Publication Information

{'id': 'https://openalex.org/W2413895862', 'doi': 'https://doi.org/10.1002/uog.15975', 'title': 'Implications of fetoplacental mosaicism on cell‐free <scp>DNA</scp> testing: a review of a common biological phenomenon', 'display_name': 'Implications of fetoplacental mosaicism on cell‐free <scp>DNA</scp> testing: a review of a common biological phenomenon', 'publication_year': 2016, 'publication_date': '2016-05-31', 'ids': {'openalex': 'https://openalex.org/W2413895862', 'doi': 'https://doi.org/10.1002/uog.15975', 'mag': '2413895862', 'pmid': 'https://pubmed.ncbi.nlm.nih.gov/27240559'}, 'language': 'en', 'primary_location': {'is_oa': True, 'landing_page_url': 'https://doi.org/10.1002/uog.15975', 'pdf_url': 'https://obgyn.onlinelibrary.wiley.com/doi/pdfdirect/10.1002/uog.15975', 'source': {'id': 'https://openalex.org/S22881060', 'display_name': 'Ultrasound in Obstetrics and Gynecology', 'issn_l': '0960-7692', 'issn': ['0960-7692', '1469-0705'], 'is_oa': False, 'is_in_doaj': False, 'is_core': True, 'host_organization': 'https://openalex.org/P4310320595', 'host_organization_name': 'Wiley', 'host_organization_lineage': ['https://openalex.org/P4310320595'], 'host_organization_lineage_names': ['Wiley'], 'type': 'journal'}, 'license': None, 'license_id': None, 'version': 'publishedVersion', 'is_accepted': True, 'is_published': True}, 'type': 'review', 'type_crossref': 'journal-article', 'indexed_in': ['crossref', 'pubmed'], 'open_access': {'is_oa': True, 'oa_status': 'bronze', 'oa_url': 'https://obgyn.onlinelibrary.wiley.com/doi/pdfdirect/10.1002/uog.15975', 'any_repository_has_fulltext': False}, 'authorships': [{'author_position': 'first', 'author': {'id': 'https://openalex.org/A5053909568', 'display_name': 'Francesca Romana Grati', 'orcid': 'https://orcid.org/0000-0002-3836-5190'}, 'institutions': [], 'countries': ['IT'], 'is_corresponding': True, 'raw_author_name': 'F. R. Grati', 'raw_affiliation_strings': ['Research and Development, Cytogenetics and Medical Genetics Unit, TOMA Advanced Biomedical Assays S.p.A., Busto Arsizio, Varese, Italy'], 'affiliations': [{'raw_affiliation_string': 'Research and Development, Cytogenetics and Medical Genetics Unit, TOMA Advanced Biomedical Assays S.p.A., Busto Arsizio, Varese, Italy', 'institution_ids': []}]}], 'institution_assertions': [], 'countries_distinct_count': 1, 'institutions_distinct_count': 0, 'corresponding_author_ids': ['https://openalex.org/A5053909568'], 'corresponding_institution_ids': [], 'apc_list': {'value': 4480, 'currency': 'USD', 'value_usd': 4480, 'provenance': 'doaj'}, 'apc_paid': None, 'fwci': 1.085, 'has_fulltext': True, 'fulltext_origin': 'ngrams', 'cited_by_count': 45, 'citation_normalized_percentile': {'value': 0.998581, 'is_in_top_1_percent': True, 'is_in_top_10_percent': True}, 'cited_by_percentile_year': {'min': 95, 'max': 96}, 'biblio': {'volume': '48', 'issue': '4', 'first_page': '415', 'last_page': '423'}, 'is_retracted': False, 'is_paratext': False, 'primary_topic': {'id': 'https://openalex.org/T10978', 'display_name': 'Prenatal Screening and Diagnostics', 'score': 0.9999, 'subfield': {'id': 'https://openalex.org/subfields/2735', 'display_name': 'Pediatrics, Perinatology and Child Health'}, 'field': {'id': 'https://openalex.org/fields/27', 'display_name': 'Medicine'}, 'domain': {'id': 'https://openalex.org/domains/4', 'display_name': 'Health Sciences'}}, 'topics': [{'id': 'https://openalex.org/T10978', 'display_name': 'Prenatal Screening and Diagnostics', 'score': 0.9999, 'subfield': {'id': 'https://openalex.org/subfields/2735', 'display_name': 'Pediatrics, Perinatology and Child Health'}, 'field': {'id': 'https://openalex.org/fields/27', 'display_name': 'Medicine'}, 'domain': {'id': 'https://openalex.org/domains/4', 'display_name': 'Health Sciences'}}, {'id': 'https://openalex.org/T11287', 'display_name': 'Cancer Genomics and Diagnostics', 'score': 0.9821, 'subfield': {'id': 'https://openalex.org/subfields/1306', 'display_name': 'Cancer Research'}, 'field': {'id': 'https://openalex.org/fields/13', 'display_name': 'Biochemistry, Genetics and Molecular Biology'}, 'domain': {'id': 'https://openalex.org/domains/1', 'display_name': 'Life Sciences'}}, {'id': 'https://openalex.org/T12552', 'display_name': 'Fetal and Pediatric Neurological Disorders', 'score': 0.9785, 'subfield': {'id': 'https://openalex.org/subfields/2735', 'display_name': 'Pediatrics, Perinatology and Child Health'}, 'field': {'id': 'https://openalex.org/fields/27', 'display_name': 'Medicine'}, 'domain': {'id': 'https://openalex.org/domains/4', 'display_name': 'Health Sciences'}}], 'keywords': [{'id': 'https://openalex.org/keywords/cell-free-fetal-dna', 'display_name': 'Cell-free fetal DNA', 'score': 0.52898085}], 'concepts': [{'id': 'https://openalex.org/C71924100', 'wikidata': 'https://www.wikidata.org/wiki/Q11190', 'display_name': 'Medicine', 'level': 0, 'score': 0.700285}, {'id': 'https://openalex.org/C552990157', 'wikidata': 'https://www.wikidata.org/wiki/Q7430', 'display_name': 'DNA', 'level': 2, 'score': 0.54084384}, {'id': 'https://openalex.org/C152110520', 'wikidata': 'https://www.wikidata.org/wiki/Q14225730', 'display_name': 'Cell-free fetal DNA', 'level': 5, 'score': 0.52898085}, {'id': 'https://openalex.org/C54355233', 'wikidata': 'https://www.wikidata.org/wiki/Q7162', 'display_name': 'Genetics', 'level': 1, 'score': 0.498389}, {'id': 'https://openalex.org/C70721500', 'wikidata': 'https://www.wikidata.org/wiki/Q177005', 'display_name': 'Computational biology', 'level': 1, 'score': 0.45629787}, {'id': 'https://openalex.org/C60644358', 'wikidata': 'https://www.wikidata.org/wiki/Q128570', 'display_name': 'Bioinformatics', 'level': 1, 'score': 0.33935624}, {'id': 'https://openalex.org/C86803240', 'wikidata': 'https://www.wikidata.org/wiki/Q420', 'display_name': 'Biology', 'level': 0, 'score': 0.16483644}, {'id': 'https://openalex.org/C2779234561', 'wikidata': 'https://www.wikidata.org/wiki/Q11995', 'display_name': 'Pregnancy', 'level': 2, 'score': 0.15407133}, {'id': 'https://openalex.org/C2778258057', 'wikidata': 'https://www.wikidata.org/wiki/Q1136569', 'display_name': 'Prenatal diagnosis', 'level': 4, 'score': 0.13103944}, {'id': 'https://openalex.org/C172680121', 'wikidata': 'https://www.wikidata.org/wiki/Q26513', 'display_name': 'Fetus', 'level': 3, 'score': 0.12066287}], 'mesh': [{'descriptor_ui': 'D015193', 'descriptor_name': 'Chorionic Villi Sampling', 'qualifier_ui': 'Q000379', 'qualifier_name': 'methods', 'is_major_topic': True}, {'descriptor_ui': 'D009030', 'descriptor_name': 'Mosaicism', 'qualifier_ui': 'Q000196', 'qualifier_name': 'embryology', 'is_major_topic': True}, {'descriptor_ui': 'D011296', 'descriptor_name': 'Prenatal Diagnosis', 'qualifier_ui': 'Q000379', 'qualifier_name': 'methods', 'is_major_topic': True}, {'descriptor_ui': 'D000782', 'descriptor_name': 'Aneuploidy', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D002474', 'descriptor_name': 'Cell-Free System', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D015193', 'descriptor_name': 'Chorionic Villi Sampling', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D004247', 'descriptor_name': 'DNA', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D004247', 'descriptor_name': 'DNA', 'qualifier_ui': 'Q000032', 'qualifier_name': 'analysis', 'is_major_topic': False}, {'descriptor_ui': 'D005260', 'descriptor_name': 'Female', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D006801', 'descriptor_name': 'Humans', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D008297', 'descriptor_name': 'Male', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D009030', 'descriptor_name': 'Mosaicism', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D011247', 'descriptor_name': 'Pregnancy', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D011296', 'descriptor_name': 'Prenatal Diagnosis', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D012189', 'descriptor_name': 'Retrospective Studies', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}], 'locations_count': 2, 'locations': [{'is_oa': True, 'landing_page_url': 'https://doi.org/10.1002/uog.15975', 'pdf_url': 'https://obgyn.onlinelibrary.wiley.com/doi/pdfdirect/10.1002/uog.15975', 'source': {'id': 'https://openalex.org/S22881060', 'display_name': 'Ultrasound in Obstetrics and Gynecology', 'issn_l': '0960-7692', 'issn': ['0960-7692', '1469-0705'], 'is_oa': False, 'is_in_doaj': False, 'is_core': True, 'host_organization': 'https://openalex.org/P4310320595', 'host_organization_name': 'Wiley', 'host_organization_lineage': ['https://openalex.org/P4310320595'], 'host_organization_lineage_names': ['Wiley'], 'type': 'journal'}, 'license': None, 'license_id': None, 'version': 'publishedVersion', 'is_accepted': True, 'is_published': True}, {'is_oa': False, 'landing_page_url': 'https://pubmed.ncbi.nlm.nih.gov/27240559', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S4306525036', 'display_name': 'PubMed', 'issn_l': None, 'issn': None, 'is_oa': False, 'is_in_doaj': False, 'is_core': False, 'host_organization': 'https://openalex.org/I1299303238', 'host_organization_name': 'National Institutes of Health', 'host_organization_lineage': ['https://openalex.org/I1299303238'], 'host_organization_lineage_names': ['National Institutes of Health'], 'type': 'repository'}, 'license': None, 'license_id': None, 'version': None, 'is_accepted': False, 'is_published': False}], 'best_oa_location': {'is_oa': True, 'landing_page_url': 'https://doi.org/10.1002/uog.15975', 'pdf_url': 'https://obgyn.onlinelibrary.wiley.com/doi/pdfdirect/10.1002/uog.15975', 'source': {'id': 'https://openalex.org/S22881060', 'display_name': 'Ultrasound in Obstetrics and Gynecology', 'issn_l': '0960-7692', 'issn': ['0960-7692', '1469-0705'], 'is_oa': False, 'is_in_doaj': False, 'is_core': True, 'host_organization': 'https://openalex.org/P4310320595', 'host_organization_name': 'Wiley', 'host_organization_lineage': ['https://openalex.org/P4310320595'], 'host_organization_lineage_names': ['Wiley'], 'type': 'journal'}, 'license': None, 'license_id': None, 'version': 'publishedVersion', 'is_accepted': True, 'is_published': True}, 'sustainable_development_goals': [{'display_name': 'Good health and well-being', 'score': 0.68, 'id': 'https://metadata.un.org/sdg/3'}], 'grants': [], 'datasets': [], 'versions': [], 'referenced_works_count': 98, 'referenced_works': ['https://openalex.org/W1495912443', 'https://openalex.org/W1530237392', 'https://openalex.org/W1576120545', 'https://openalex.org/W1583962399', 'https://openalex.org/W1588460931', 'https://openalex.org/W1600681439', 'https://openalex.org/W1606421373', 'https://openalex.org/W1607914109', 'https://openalex.org/W1680591717', 'https://openalex.org/W1762791179', 'https://openalex.org/W1820772169', 'https://openalex.org/W1834160389', 'https://openalex.org/W1871011023', 'https://openalex.org/W1881396234', 'https://openalex.org/W1893105838', 'https://openalex.org/W1927939230', 'https://openalex.org/W1935149375', 'https://openalex.org/W1965715692', 'https://openalex.org/W1966512787', 'https://openalex.org/W1972431488', 'https://openalex.org/W1973063821', 'https://openalex.org/W1975630843', 'https://openalex.org/W1979092199', 'https://openalex.org/W1980197422', 'https://openalex.org/W1984795584', 'https://openalex.org/W1987488018', 'https://openalex.org/W1995337991', 'https://openalex.org/W1998116517', 'https://openalex.org/W2005412505', 'https://openalex.org/W2008445810', 'https://openalex.org/W2009406052', 'https://openalex.org/W2013102126', 'https://openalex.org/W2017898548', 'https://openalex.org/W2026015523', 'https://openalex.org/W2029030547', 'https://openalex.org/W2042419753', 'https://openalex.org/W2043828486', 'https://openalex.org/W2044611249', 'https://openalex.org/W2045241738', 'https://openalex.org/W2050728776', 'https://openalex.org/W2050949291', 'https://openalex.org/W2057814045', 'https://openalex.org/W2067610340', 'https://openalex.org/W2069401773', 'https://openalex.org/W2070056897', 'https://openalex.org/W2070930343', 'https://openalex.org/W2071428826', 'https://openalex.org/W2077259940', 'https://openalex.org/W2078927009', 'https://openalex.org/W2080647711', 'https://openalex.org/W2091695435', 'https://openalex.org/W2096328220', 'https://openalex.org/W2099601546', 'https://openalex.org/W2104083677', 'https://openalex.org/W2104478010', 'https://openalex.org/W2105320303', 'https://openalex.org/W2106530124', 'https://openalex.org/W2107428492', 'https://openalex.org/W2108311250', 'https://openalex.org/W2109837835', 'https://openalex.org/W2110804222', 'https://openalex.org/W2123174759', 'https://openalex.org/W2123370218', 'https://openalex.org/W2124750874', 'https://openalex.org/W2128037807', 'https://openalex.org/W2128848658', 'https://openalex.org/W2129125677', 'https://openalex.org/W2130572312', 'https://openalex.org/W2139926668', 'https://openalex.org/W2144067971', 'https://openalex.org/W2144252620', 'https://openalex.org/W2144967747', 'https://openalex.org/W2146921721', 'https://openalex.org/W2150176199', 'https://openalex.org/W2150771165', 'https://openalex.org/W2152148986', 'https://openalex.org/W2154440650', 'https://openalex.org/W2156283009', 'https://openalex.org/W2156318404', 'https://openalex.org/W2171420586', 'https://openalex.org/W2171812329', 'https://openalex.org/W2175880398', 'https://openalex.org/W2206731767', 'https://openalex.org/W2223596472', 'https://openalex.org/W2225021839', 'https://openalex.org/W2233214392', 'https://openalex.org/W2298489122', 'https://openalex.org/W2302938642', 'https://openalex.org/W2313526757', 'https://openalex.org/W2314141379', 'https://openalex.org/W2462099102', 'https://openalex.org/W2486998136', 'https://openalex.org/W2613008786', 'https://openalex.org/W2950811416', 'https://openalex.org/W4246806847', 'https://openalex.org/W4285719527', 'https://openalex.org/W4289105501', 'https://openalex.org/W594725272'], 'related_works': ['https://openalex.org/W3027591656', 'https://openalex.org/W2620273846', 'https://openalex.org/W2602739028', 'https://openalex.org/W2364940938', 'https://openalex.org/W2328853164', 'https://openalex.org/W2320242398', 'https://openalex.org/W2147946132', 'https://openalex.org/W2095327934', 'https://openalex.org/W2053120783', 'https://openalex.org/W1553015389'], 'abstract_inverted_index': {'Cell-free': [0], 'DNA': [1, 157, 591, 1298], '(cfDNA)': [2], 'testing,': [3], 'also': [4, 325, 552, 722, 1426, 1935, 2117, 2834, 3413, 3622, 4386], 'known': [5, 607, 2936], 'as': [6, 489, 541, 543, 616, 695, 818, 983, 1227, 1800, 1900, 2032, 2038, 2126, 2182, 2285, 2296, 2902, 2905, 3358, 3435, 4064, 4474, 4476], 'non-invasive': [7, 2272, 2297, 2910, 3903], 'prenatal': [8, 22, 39, 118, 131, 755, 853, 1187, 1578, 1777, 2087, 2298, 3729, 4033, 4184, 4217, 4462, 4472], 'testing/screening,': [9], 'for': [10, 193, 268, 290, 295, 300, 305, 313, 327, 333, 346, 504, 690, 727, 1068, 1650, 1653, 1656, 1660, 1708, 1711, 1714, 1718, 1788, 1829, 1892, 1962, 1965, 1968, 1972, 2021, 2077, 2193, 2200, 2217, 2233, 2239, 2256, 2264, 2281, 2369, 2722, 2756, 2837, 2851, 2880, 2947, 3052, 3055, 3060, 3104, 3109, 3135, 3138, 3155, 3162, 3217, 3229, 3246, 3294, 3307, 3364, 3409, 3441, 3445, 3450, 3457, 3533, 3580, 3615, 3794, 3800, 3836, 3852, 3902, 3920, 3936, 4068, 4118, 4299, 4328, 4482], 'fetal': [11, 57, 194, 271, 512, 517, 523, 581, 729, 736, 798, 951, 970, 1035, 1061, 1157, 1389, 1492, 1516, 1555, 1832, 1850, 2218, 2223, 2438, 2447, 2476, 2508, 2598, 2635, 2723, 2839, 2881, 2993, 3305, 3334, 3700, 3761, 3776, 3808, 3818, 3939, 3949, 3985, 4030, 4078, 4483], 'aneuploidy': [12, 2994], 'is': [13, 64, 71, 105, 145, 183, 247, 352, 627, 881, 981, 989, 997, 1005, 1013, 1051, 1119, 1130, 1183, 1246, 1265, 1287, 1359, 1479, 1494, 1706, 1752, 1761, 1772, 1797, 1806, 1839, 1867, 1934, 1949, 2051, 2084, 2106, 2110, 2116, 2135, 2208, 2305, 2308, 2478, 2491, 2732, 2833, 2955, 2978, 3031, 3111, 3132, 3297, 3319, 3346, 3389, 3477, 3585, 3607, 3711, 3884, 3928, 3971, 4009, 4047, 4090, 4156, 4371, 4460], 'one': [14, 1228, 2956], 'of': [15, 44, 77, 102, 111, 117, 169, 173, 180, 221, 232, 270, 343, 359, 363, 367, 416, 418, 439, 480, 494, 510, 532, 560, 590, 593, 644, 659, 759, 791, 804, 807, 821, 833, 847, 875, 887, 916, 925, 949, 1018, 1024, 1049, 1071, 1079, 1086, 1148, 1156, 1164, 1193, 1209, 1215, 1229, 1233, 1314, 1318, 1326, 1350, 1362, 1368, 1381, 1388, 1395, 1414, 1417, 1433, 1465, 1491, 1515, 1554, 1563, 1571, 1577, 1614, 1669, 1678, 1691, 1814, 1819, 1831, 1835, 1860, 1889, 1912, 1922, 1926, 1939, 1985, 1990, 2016, 2036, 2041, 2046, 2061, 2072, 2081, 2114, 2129, 2155, 2158, 2165, 2169, 2222, 2268, 2320, 2337, 2446, 2464, 2489, 2500, 2507, 2527, 2538, 2586, 2616, 2634, 2642, 2671, 2693, 2702, 2738, 2753, 2762, 2808, 2817, 2830, 2860, 2897, 2928, 2944, 2957, 2962, 2969, 2972, 2981, 2991, 3004, 3009, 3015, 3026, 3042, 3048, 3101, 3129, 3152, 3173, 3241, 3269, 3290, 3304, 3314, 3333, 3336, 3353, 3369, 3395, 3403, 3432, 3438, 3465, 3480, 3494, 3501, 3515, 3577, 3592, 3661, 3704, 3739, 3760, 3774, 3814, 3830, 3846, 3867, 3875, 3878, 3888, 3945, 4000, 4013, 4024, 4072, 4084, 4114, 4127, 4171, 4183, 4191, 4203, 4209, 4216, 4238, 4247, 4264, 4273, 4278, 4286, 4308, 4320, 4337, 4341, 4347, 4359, 4389, 4398, 4404, 4414, 4430, 4439], 'the': [16, 42, 51, 55, 75, 78, 82, 87, 108, 122, 152, 161, 170, 174, 176, 330, 357, 419, 440, 447, 476, 481, 530, 553, 657, 768, 783, 788, 792, 796, 802, 830, 855, 884, 917, 921, 926, 929, 944, 950, 957, 962, 1014, 1046, 1057, 1072, 1075, 1080, 1087, 1099, 1103, 1115, 1122, 1132, 1151, 1161, 1165, 1170, 1181, 1220, 1225, 1243, 1249, 1254, 1268, 1273, 1283, 1296, 1302, 1308, 1319, 1366, 1373, 1379, 1384, 1386, 1401, 1415, 1418, 1423, 1427, 1431, 1437, 1448, 1453, 1489, 1512, 1540, 1552, 1561, 1564, 1572, 1586, 1590, 1593, 1615, 1667, 1672, 1676, 1679, 1703, 1722, 1757, 1764, 1770, 1790, 1794, 1812, 1822, 1840, 1858, 1871, 1880, 1920, 1923, 1930, 1945, 2004, 2014, 2033, 2039, 2049, 2058, 2064, 2070, 2079, 2093, 2104, 2112, 2127, 2133, 2142, 2152, 2156, 2161, 2166, 2183, 2195, 2203, 2206, 2212, 2266, 2278, 2318, 2329, 2335, 2443, 2451, 2462, 2474, 2486, 2498, 2581, 2602, 2607, 2746, 2798, 2806, 2815, 2835, 2876, 2895, 2926, 2942, 2958, 2970, 2979, 2982, 2988, 2992, 3002, 3013, 3024, 3029, 3040, 3086, 3092, 3139, 3149, 3171, 3174, 3189, 3199, 3205, 3238, 3302, 3367, 3381, 3419, 3474, 3478, 3495, 3502, 3513, 3520, 3525, 3574, 3659, 3671, 3679, 3688, 3702, 3709, 3733, 3742, 3750, 3764, 3787, 3791, 3843, 3857, 3865, 3870, 3876, 3967, 3975, 4073, 4109, 4112, 4125, 4136, 4148, 4169, 4172, 4175, 4179, 4189, 4199, 4236, 4259, 4274, 4276, 4283, 4306, 4309, 4321, 4338, 4345, 4360, 4367, 4378, 4387, 4390, 4395, 4399, 4412, 4420, 4431], 'most': [17, 1015, 1449, 2213, 2349, 3234], 'important': [18, 4234], 'technical': [19, 486], 'advances': [20], 'in': [21, 129, 160, 237, 251, 283, 349, 580, 654, 669, 738, 765, 771, 878, 936, 956, 961, 1029, 1045, 1056, 1060, 1102, 1113, 1121, 1127, 1131, 1138, 1150, 1169, 1180, 1213, 1218, 1241, 1248, 1253, 1262, 1267, 1272, 1281, 1301, 1337, 1365, 1378, 1383, 1422, 1436, 1457, 1483, 1539, 1621, 1671, 1769, 1821, 1851, 1870, 1919, 2013, 2048, 2063, 2277, 2286, 2374, 2545, 2580, 2740, 2790, 2819, 2858, 2873, 2884, 2930, 2986, 3012, 3028, 3039, 3067, 3089, 3170, 3188, 3198, 3204, 3285, 3292, 3312, 3415, 3424, 3519, 3603, 3647, 3658, 3687, 3690, 3695, 3708, 3715, 3728, 3737, 3755, 3790, 3807, 3810, 3869, 3881, 3954, 3979, 4040, 4042, 4124, 4158, 4282, 4324, 4393], 'care': [23], 'and': [24, 50, 70, 136, 140, 151, 202, 224, 266, 279, 288, 293, 298, 303, 309, 311, 337, 382, 390, 398, 411, 425, 457, 470, 529, 564, 595, 619, 653, 661, 692, 777, 866, 923, 939, 952, 973, 988, 1085, 1135, 1238, 1251, 1259, 1270, 1275, 1278, 1370, 1407, 1430, 1445, 1461, 1488, 1503, 1522, 1529, 1547, 1600, 1602, 1626, 1628, 1658, 1674, 1716, 1853, 1970, 1978, 2023, 2086, 2120, 2205, 2290, 2358, 2389, 2395, 2414, 2420, 2426, 2483, 2510, 2516, 2559, 2565, 2610, 2625, 2631, 2669, 2679, 2685, 2735, 2783, 2792, 2937, 3007, 3019, 3057, 3063, 3083, 3106, 3117, 3122, 3144, 3179, 3203, 3212, 3222, 3248, 3263, 3301, 3317, 3324, 3326, 3341, 3384, 3447, 3486, 3499, 3618, 3644, 3668, 3748, 3769, 3783, 3798, 3839, 3861, 4104, 4178, 4201, 4208, 4246, 4262, 4270, 4280, 4303, 4357, 4381, 4416, 4422, 4428, 4433, 4450, 4468, 4479], 'its': [25, 4227, 4231], 'uptake': [26], 'has': [27, 257, 262, 842, 1642, 2549, 4486], 'increased': [28, 191, 725], 'rapidly.': [29], 'Practitioners': [30], 'offering': [31, 2124, 2908], 'this': [32, 103, 1096, 1898, 2082, 2294, 2303], 'screening': [33, 63, 69, 149, 617, 633, 711, 3228, 4026, 4119, 4165, 4204, 4481], 'test': [34, 134, 712, 1729, 1881, 2191, 2677, 2964, 3850, 4027, 4062, 4155, 4177, 4382, 4391, 4434], 'must': [35, 4212], 'provide': [36, 467, 2211, 2437, 3573], 'comprehensive': [37, 4020, 4194], 'pretest': [38, 130, 3957, 4195], 'counseling,': [40, 132, 142, 3958], 'including': [41, 210, 703, 1398, 1997, 3959, 4198], 'risk': [43, 76, 192, 689, 726, 1514, 1553, 1641, 1664, 1938, 2040, 2060, 2157, 2215, 2878, 3303, 3332, 3431, 3468, 3527, 3935], 'possible': [45, 449, 2458, 2743, 2849, 3166, 3630, 3938], 'discordances': [46], 'between': [47, 147, 1200, 1756], 'cfDNA': [48, 124, 154, 181, 260, 344, 452, 585, 614, 1329, 1635, 1728, 1780, 1865, 1954, 2019, 2075, 2162, 2190, 2257, 2350, 2434, 2475, 2517, 2566, 2611, 2624, 2676, 2730, 2754, 2853, 2898, 2945, 2976, 3005, 3049, 3077, 3102, 3153, 3215, 3362, 3407, 3481, 3613, 3636, 3849, 3882, 3918, 3987, 4051, 4061, 4154, 4176, 4210, 4218, 4289, 4312, 4477], 'results': [49, 472, 506, 1633, 2440, 2678, 3078, 3405], 'ultrasound': [52, 2444, 2484, 2505, 2557, 2632, 2686, 2888, 3819, 4045, 4079, 4133], 'examination': [53, 430, 2144], 'and/or': [54, 708, 2449], 'actual': [56, 2983], 'genetic': [58, 831, 2241, 2316, 2614, 4185, 4196], 'chromosomal': [59, 478, 549, 625, 789, 822, 2882, 3803, 4074, 4240, 4469], 'constitution.': [60], 'Although': [61, 2236, 2933, 3023, 3251], 'cfDNA-based': [62], 'similar': [65, 2250, 3037], 'to': [66, 106, 127, 184, 385, 485, 679, 829, 1054, 1160, 1198, 1289, 1558, 1645, 1682, 1699, 1754, 1763, 1801, 1811, 1907, 2029, 2053, 2092, 2151, 2210, 2293, 2377, 2407, 2552, 2742, 2787, 2900, 2912, 2917, 3113, 3146, 3159, 3177, 3237, 3348, 3512, 3529, 3587, 3601, 3713, 3856, 3899, 3913, 3922, 3966, 3998, 4005, 4028, 4086, 4092, 4168, 4188, 4225, 4266], 'traditional': [67, 97], 'serum': [68, 98, 4164, 4480], 'aimed': [72], 'at': [73, 189, 405, 431, 682, 767, 1475, 2000, 2868, 3990, 4135, 4362, 4456], 'revising': [74], 'pregnant': [79, 2066, 3923], 'woman,': [80], 'assessing': [81, 1789], 'nucleic': [83, 235], 'acids': [84, 236], 'derived': [85, 114, 166, 548, 836, 1306], 'from': [86, 115, 167, 573, 837, 1307, 1734, 1944, 2230, 2442, 2450, 2480, 2785], 'placenta': [88, 793, 940, 1058, 3643, 3858], 'poses': [89, 2225], 'unique': [90], 'interpretative': [91], 'challenges': [92], 'not': [93, 248, 403, 621, 664, 747, 1252, 1271, 1399, 1473, 1567, 1589, 1854, 2253, 2342, 2359, 2605, 3472, 4333, 4376], 'commonly': [94], 'encountered': [95, 810], 'with': [96, 413, 475, 671, 742, 849, 861, 1007, 1034, 1542, 2310, 2541, 2575, 2771, 2864, 3046, 3091, 3148, 3209, 3225, 3278, 3507, 3555, 3956, 4077, 4344, 4442, 4454], 'screening.': [99], 'The': [100, 178, 273, 341, 751, 824, 872, 964, 979, 1064, 1639, 1662, 2300, 2536, 3099, 3126, 3233, 3288, 4401], 'purpose': [101], 'article': [104], 'translate': [107], 'established': [109], 'knowledge': [110], 'placental': [112, 953, 985, 992, 1141, 1291, 1310, 1351, 2493, 2984, 3207], 'genetics,': [113], 'decades': [116], 'diagnostic': [119, 622, 2034, 2453, 3127, 4206], 'cytogenetics,': [120], 'into': [121, 1108], 'new': [123, 812, 4239, 4300], 'testing': [125, 155, 182, 206, 261, 345, 586, 1636, 1781, 1866, 2273, 2435, 2731, 2755, 2899, 2946, 2977, 3006, 3103, 3154, 3216, 3363, 3408, 3614, 3883, 3919, 3988, 4207, 4211, 4219, 4478], 'paradigm': [126], 'assist': [128], 'when': [133, 143, 473, 1176, 1526, 1767, 2096, 2473, 2504, 2597, 2623, 3406, 3916, 4152], 'limits': [135], 'advantages': [137], 'are': [138, 165, 188, 208, 356, 459, 501, 556, 605, 666, 968, 974, 1027, 1143, 1305, 1447, 1848, 1916, 2003, 2352, 2456, 2750, 2856, 2922, 2935, 3088, 3220, 3276, 3375, 3412, 3463, 3505, 3621, 3628, 3683, 3763, 3781, 3893, 4243, 4331], 'explained,': [139], 'post-test': [141], 'there': [144, 500, 1358, 1915, 1933, 2921, 2934, 3219, 3606, 3627, 3682], 'discordance': [146], 'a': [148, 263, 360, 364, 437, 533, 557, 574, 588, 606, 647, 672, 686, 699, 704, 709, 743, 811, 819, 838, 893, 898, 913, 998, 1008, 1021, 1042, 1177, 1189, 1201, 1216, 1315, 1332, 1393, 1535, 1688, 1726, 1736, 1741, 1748, 1785, 1817, 1885, 1936, 1941, 1952, 1982, 1986, 2017, 2042, 2044, 2073, 2138, 2175, 2188, 2269, 2313, 2321, 2492, 2513, 2519, 2528, 2542, 2546, 2562, 2568, 2572, 2576, 2583, 2587, 2590, 2613, 2628, 2643, 2682, 2689, 2694, 2703, 2733, 3036, 3068, 3071, 3164, 3279, 3331, 3392, 3401, 3430, 3436, 3466, 3484, 3556, 3634, 3638, 3648, 3654, 3662, 3675, 3706, 3716, 3721, 3758, 3775, 3811, 3822, 3828, 3834, 3847, 3885, 3896, 3926, 4019, 4025, 4050, 4059, 4070, 4082, 4094, 4153, 4159, 4163, 4348, 4372, 4443, 4461], 'result': [150, 358, 1620, 1730, 1818, 1943, 2020, 2045, 2076, 2192, 3714, 3851, 4063], "'truth'.": [153], 'analyzes': [156], 'fragments': [158, 592, 1299], 'circulating': [159, 601, 1300], 'maternal': [162, 238, 514, 561, 594, 1303, 2591, 2870, 3081, 3160], 'bloodstream': [163], 'that': [164, 187, 259, 507, 612, 781, 787, 841, 1570, 1725, 2228, 2302, 2845, 2952, 3047, 3073, 3184, 3275, 3374, 3391, 3417, 3504, 3609, 3681, 4242, 4330], 'apoptosis': [168], 'external': [171, 1309], 'layer': [172], 'placenta,': [175], 'trophoblast1-3.': [177], 'aim': [179], 'detect': [185, 1683, 4029], 'pregnancies': [186, 285, 351, 4129], 'an': [190, 717, 724, 834, 1543, 1548, 1908, 2097, 2170, 2715, 3508, 3946, 4044, 4268], 'aneuploidies,': [195, 1932, 2194, 2949, 3255], 'namely': [196], 'trisomy': [197], '21': [198], '(T21),': [199], '18': [200], '(T18)': [201], '13': [203], '(T13).': [204], 'Several': [205], 'strategies': [207, 396], 'available,': [209], 'massively': [211], 'parallel': [212, 377], 'shotgun': [213, 378], 'sequencing,': [214, 379], 'chromosome-selective': [215, 380], 'sequence': [216, 381], 'analysis': [217, 220, 362, 806, 1070, 1078, 1192, 1313, 1984, 4467], 'or': [218, 402, 428, 435, 492, 513, 521, 716, 844, 903, 907, 959, 1203, 1405, 1411, 1740, 1744, 1808, 2054, 2160, 2346, 2497, 2530, 2589, 2714, 3597, 3650, 3653, 3699, 3720, 3779, 3821, 3941], 'digital': [219], 'selected': [222], 'regions': [223, 2769], 'single': [225, 839, 1454], 'nucleotide': [226], 'polymorphism': [227], '(SNP)-only-based': [228], 'analysis4-8.': [229], 'Other': [230], 'methods': [231, 415, 634, 2371, 2403, 4340], 'examining': [233], 'fetoplacental': [234, 527, 596, 603, 816, 1171, 1234, 1616, 1861, 1927, 2539, 2573, 2953, 2973, 3201, 3244, 3286, 3578], 'blood': [239, 4379], 'have': [240, 685, 746, 1153, 2243, 2252, 2261], 'been': [241, 749, 1643, 2254, 2550], 'described': [242, 3625, 3686], 'previously;': [243], 'however,': [244, 732], 'their': [245, 3805], 'implementation': [246, 2744, 2896, 4215], 'currently': [249, 1798], 'widespread': [250], 'clinical': [252, 429, 2279, 3280, 4002, 4249, 4295, 4421, 4452], 'practice9-15.': [253], 'A': [254, 2828], 'recent': [255, 2734], 'meta-analysis': [256], 'shown': [258], 'high': [264, 873, 2085, 2119, 3886], 'sensitivity': [265, 456, 1677], 'specificity': [267, 458], 'detection': [269, 277, 331, 3368, 4405], 'aneuploidies16.': [272], 'respective': [274], 'weighted': [275], 'pooled': [276, 361], 'rates': [278, 281, 658, 2368, 3094, 3964, 4384], 'false-positive': [280, 567, 1622, 1663, 3076, 3359, 3404], '(FPRs)': [282], 'singleton': [284], 'were:': [286], '99.2%': [287], '0.09%': [289], 'T21,': [291, 665, 1963, 3053], '96.3%': [292], '0.13%': [294, 299], 'T18,': [296, 1654, 1712, 1966, 2024], '91.0%': [297], 'T13,': [301, 662, 1651, 1709, 3061], '90.3%': [302], '0.23%': [304], 'monosomy': [306], 'X': [307], '(MX),': [308], '93.0%': [310], '0.14%': [312], 'sex': [314, 582, 2224, 2231, 2248, 2366, 2477, 2639, 3175], 'chromosome': [315, 420, 730, 1244, 1429, 1434, 2323], 'aneuploidies': [316, 348, 863], '(SCAs)': [317], 'other': [318, 347, 728, 3064], 'than': [319, 668, 1059, 2057, 2180, 3137, 3254, 3974, 4230, 4235, 4366], 'MX.': [320, 3156], 'Less': [321], 'well-validated': [322], 'performances': [323, 4388, 4435], 'were': [324, 1342, 1472, 1976, 2372, 2405], 'available': [326], 'twin': [328, 350], 'pregnancies;': [329], 'rate': [332, 3887, 3978], 'T21': [334, 1499, 1528, 1657, 1715, 2022], 'was': [335, 339, 763, 786, 1334, 3693], '93.7%': [336], 'FPR': [338, 1705], '0.23%16.': [340], 'performance': [342, 450, 2943, 2980, 3003, 3041, 3128, 4361], 'unknown.': [353], 'These': [354, 536, 1145, 1609, 1974, 3191, 3909], 'data': [355, 721, 2006, 3242, 3572], 'heterogeneous': [365], 'group': [366], '37': [368], 'published': [369], 'studies': [370, 734, 2260, 2376, 3014, 3034, 4298, 4453], 'based': [371, 637, 1980, 2353, 3079], 'on': [372, 433, 638, 920, 1392, 1666, 1675, 1721, 1879, 1981, 2354, 2360, 2461, 2601, 2814, 2825, 2975, 3080, 3243, 3380, 3732, 3786, 3864, 3984, 4146, 4258, 4471], 'different': [373, 386, 394, 414, 850, 1154, 1231, 1396, 1786, 1924, 2479, 3200, 3210, 4339], 'molecular': [374], 'methodologies': [375], '(massively': [376], 'SNP),': [383], 'applied': [384], 'pregnancy': [387, 2548, 2914, 3719, 3837], 'populations': [388, 846], '(high': [389], 'general/low': [391], 'risk),': [392], 'using': [393, 3070], 'recruitment': [395], '(prospective': [397], 'retrospective,': [399], 'operators': [400], 'blinded': [401, 4451], 'blinded)': [404], 'variable': [406], 'gestational': [407, 1887, 3992], 'ages': [408, 3993], '(7–40': [409], 'weeks)': [410, 3996], 'analyzed': [412, 1846], 'diagnosis': [417, 756, 2088, 2242, 3730, 3829, 4034, 4096, 4186, 4463], 'abnormality': [421, 1435, 4046], 'under': [422], 'investigation': [423, 707], '(prenatal': [424], 'neonatal': [426], 'karyotyping': [427, 737, 758, 1208, 2482, 2511, 2560, 2609, 2626, 2680, 2838, 3008, 3044, 3131], 'delivery': [432], 'all': [434, 632, 739, 2826, 2869, 3937, 4441], 'only': [436, 955, 960, 1400, 2005, 3422, 3751, 4069, 4377, 4408], 'portion': [438, 3394, 4071], 'whole': [441, 2799], 'tested': [442, 2315], 'population).': [443], 'Nevertheless,': [444, 1686], 'even': [445, 2102, 2311, 3372, 3799, 3826], 'considering': [446, 1687], 'best': [448], 'characteristics,': [451], 'tests': [453, 615, 677, 2351, 4120, 4329], 'can': [454, 466, 508, 577, 1105, 1223, 1321, 1618, 1782, 2099, 2274, 2324, 2436, 3074, 3195, 3282, 4407], 'fail;': [455], 'never': [460], '100%': [461], 'and,': [462, 694, 1212, 3904, 4392], 'although': [463, 2920], 'rare,': [464], 'they': [465, 697, 1471, 2404, 3470, 3610], 'discordant': [468, 505, 2441, 2963], '(false-negative': [469], '-positive)': [471], 'compared': [474, 1033, 3045], 'real': [477], 'constitution': [479, 790], 'fetus.': [482, 1011, 1573], 'In': [483, 640, 852, 1376, 1574, 2069, 2890, 3157, 3724, 3741, 4017, 4140], 'addition': [484, 3158, 4237], 'issues': [487], '(such': [488, 2284], 'sample': [490, 2470, 3950, 4326], 'swap': [491, 2471], 'lack': [493], 'sufficient': [495], 'internal': [496], 'quality': [497, 4284], 'control': [498], 'metrics)17,': [499], 'biological': [502, 609, 813, 2960, 3631], 'reasons': [503], 'be': [509, 934, 1106, 1196, 1646, 1783, 1827, 2027, 2090, 2100, 2149, 2275, 2325, 2378, 2408, 2534, 2553, 2594, 2620, 2647, 2698, 2848, 3114, 3196, 3283, 3356, 3400, 3538, 3595, 3833, 3952, 3999, 4036, 4055, 4122, 4144, 4222, 4253, 4409], 'either': [511, 1735], 'origin.': [515], 'Contributing': [516], 'factors': [518, 1397, 2940], 'include': [519, 2901, 4318], 'insufficient': [520], 'absent': [522], 'fraction': [524], '(FF)18,': [525], '19,': [526, 651], 'mosaicism20-26': [528], 'presence': [531, 1380, 2267, 2319, 2701, 2807, 2990, 3514, 3660, 3703, 3806], 'vanishing': [534, 3084], 'twin27.': [535], 'may': [537, 2026, 2122, 2847], 'cause': [538, 566, 578, 2488, 4101], 'false-negative28,': [539], '29,': [540], 'well': [542, 4475], 'false-positive,': [544], 'results27,': [545], '30.': [546], 'Maternally': [547], 'abnormalities': [550, 1451, 2883, 3820, 4031, 4075, 4134], '(probably': [551], 'submicroscopic': [554, 2724, 3249, 3273, 3581], 'ones)31-34': [555], 'rare': [558, 2822, 3253, 3619, 3676, 3684, 3726, 3752, 3801, 3853], 'case': [559, 1214, 2015, 2071, 4126], 'occult': [562], 'malignancy35': [563], 'usually': [565], 'results31,': [568], '34.': [569], 'Maternal': [570, 624], 'organ/tissue': [571], 'transfer': [572], 'male': [575, 2385, 2397, 2416, 2428, 2514, 2547, 2569, 2577, 2588, 2629, 2667, 2690], 'donor': [576], 'errors': [579, 3183], 'determination36.': [583], 'Because': [584, 1295, 1914], 'targets': [587, 2904, 3880, 4241], 'mixture': [589], 'origin': [597, 1852], '(the': [598], 'so-called': [599], "'total": [600], "cfDNA'),": [602], 'discrepancies': [604, 817, 1327, 1928, 3245, 3579], 'unavoidable': [608], 'limiting': [610, 629], 'factor': [611, 630, 2879], 'categorize': [613], 'tools': [618], 'clearly': [620], 'assays.': [623], 'background': [626], 'another': [628], 'affecting': [631], 'except': [635], 'those': [636, 670, 3308, 3373], 'SNPs-only37.': [639], 'addition,': [641, 2891, 4018], 'nearly': [642], '2%': [643, 1961], 'samples': [645, 3027], 'show': [646, 1511, 1534, 2637, 2688, 3330, 3429], 'FF': [648, 681, 745, 3383, 4322, 4343, 4363, 4402], '<': [649], '4%18,': [650], '38': [652], 'these': [655, 942, 2002, 2892, 3033, 3230, 3396], 'cases': [656, 741, 943, 1463, 1579, 1649, 2283, 3360, 3685, 4041], 'T18': [660, 691, 3056], 'but': [663, 1425, 1588, 3605, 4385], 'higher': [667, 687, 1022, 2056], 'successful': [673, 753], 'test39.': [674], 'Therefore,': [675], 'failed': [676, 740], 'owing': [678], 'low': [680, 744, 4444], 'second': [683, 2094, 3743], 'redraw': [684, 4380], 'a-priori': [688, 3934], 'T13': [693, 1478, 1969, 2109], 'such,': [696], 'necessitate': [698], 'particular': [700], 'healthcare': [701], 'management': [702], 'detailed': [705], 'sonographic': [706, 2143, 4021], 'non-cfDNA-based': [710], '(gestational': [713], 'age': [714, 1888], 'permitting)': [715], 'invasive': [718, 1750, 2185, 2918, 3890, 3906, 3968], 'procedure.': [719], 'Preliminary': [720], 'suggest': [723, 2844], 'abnormalities;': [731], 'systematic': [733], 'performing': [735, 1095, 4288, 4465], 'yet': [748], 'performed40-42.': [750], 'first': [752, 1872, 3672], 'cytogenetic': [754, 805, 993, 1069, 1186, 1312, 1612, 1776, 1991, 2198, 4466], 'by': [757, 773, 883, 912, 977, 991, 1328, 1345, 1634, 2363, 2729, 3095, 3361, 3930, 4058, 4097, 4419, 4446], 'chorionic': [760], 'villi': [761], '(CV)': [762], 'performed': [764, 1197, 1336, 1869, 1950, 2101, 3989, 4037], '1983': [766], 'Mangiagalli': [769], 'Hospital': [770], 'Milan': [772], 'Professors': [774], 'Bruno': [775], 'Brambati': [776], 'Giuseppe': [778], 'Simoni43.': [779], 'At': [780], 'time': [782, 4151], 'general': [784, 2065, 2139], 'assumption': [785], 'faithfully': [794], 'reflected': [795], 'true': [797, 969, 2989, 3553, 3575], 'karyotype.': [799], 'Soon': [800], 'after': [801, 1951, 2187, 4049, 4162], 'introduction': [803, 3877, 4346], 'CV,': [808, 1219, 1385, 1424, 1541, 1823, 3604], 'scientists': [809], 'phenomenon,': [814], 'i.e.': [815, 1793, 2571], 'consequence': [820, 3874], 'mosaicism.': [823], 'term': [825], "'chromosomal": [826], "mosaicism'": [827], 'refers': [828], 'composition': [832], 'individual': [835], 'zygote': [840], 'two': [843, 965, 1354, 1610, 1758, 2375, 2751, 3206, 3629], 'more': [845, 867, 1052, 3107, 3252], 'cells': [848, 860, 1838, 1847, 3698], 'karyotypes44.': [851], 'diagnosis,': [854, 1188, 1778], 'mosaicism': [856, 888, 971, 986, 1019, 1149, 1217, 1226, 1352, 1382, 1459, 1670, 1768, 1820, 2047, 2083, 2115, 2159, 2540, 2574, 2954, 2974, 3161, 3602, 3788, 3815, 3868], 'generally': [857, 3108], 'involves': [858, 869, 892, 3674], 'abnormal': [859, 930, 1116, 1166, 1284, 1412, 1419, 1438, 1544, 1549, 1648, 1698, 1738, 1746, 3509, 3640, 3656, 4015], 'full': [862, 3802], '(usually': [864, 909], 'trisomies)': [865, 2823], 'rarely': [868], 'structural': [870, 3258, 3266, 3295, 3397, 3461, 3535], 'rearrangements.': [871], 'prevalence': [874], 'trisomies': [876, 1443, 1455, 3141, 3620, 3727, 3754, 3766, 3854, 4066], 'found': [877], 'mosaic': [879, 1178, 1340, 1410, 1467, 1545, 1694, 1942, 3651, 3753, 3765, 3777], 'karyotypes': [880], 'explained': [882], 'underlying': [885, 4174], 'mechanism': [886, 924], 'formation,': [889], 'which': [890, 1114, 1128, 1139, 1242, 1263, 1282, 1338, 1903, 1956, 2332, 2804, 3270, 3476, 3691, 3970, 4043, 4099], 'frequently': [891, 1481, 1868], 'non-disjunction': [894], '(NDJ)': [895], 'error': [896, 1044], 'during': [897, 904, 1037, 1173, 1185, 1774], 'mitotic': [899, 1025, 1043, 3181], 'postzygotic': [900, 914], 'cell': [901, 931, 1062, 1117, 1167, 1285, 1420, 1439, 1595, 1695, 2578, 3193], 'division': [902], 'meiosis': [905], 'I': [906, 1237], 'II': [908, 1258], 'maternal)': [910], 'followed': [911], 'correction': [915], 'trisomy45.': [918], 'Depending': [919], 'timing': [922], 'NDJ': [927, 945, 3182], 'error,': [928], 'line': [932, 1118, 1168, 1421, 1596, 1696, 2579, 3090], 'could': [933, 1731, 1896, 2148, 3168, 3832, 4054, 4100, 4121], 'present': [935, 1247, 1266], 'both': [937, 1140, 1290, 1527, 2202], 'fetus': [938, 958, 2645, 2696, 3645, 3664], '(in': [941], 'occurred': [946], 'before': [947], 'separation': [948], 'compartments),': [954], 'placenta.': [963, 3871], 'former': [966], 'conditions': [967], '(TFM)': [972], 'therefore': [975, 1905], 'identifiable': [976, 990], 'amniocentesis.': [978, 1477], 'latter': [980], 'defined': [982], 'confined': [984, 3855], '(CPM)': [987], 'analysis46,': [994], '47.': [995], 'CPM': [996, 1202, 1236, 1257, 1276, 1371, 3831], "'false": [999], "alarm'": [1000], '(false-positive': [1001], 'finding)': [1002], 'because': [1003, 1020, 1779, 1845, 2164, 3366, 3469], 'it': [1004, 1129, 1264, 2025, 3388, 3584, 3692, 4251], 'associated': [1006, 2770, 3224, 3277, 3506, 4076], 'karyotypically': [1009], 'normal': [1010, 1701, 2862, 2865, 3663], 'It': [1012, 3345], 'common': [1016, 1374, 1931, 2747, 2948, 3735, 4065, 4349], 'type': [1017, 1402, 1432, 2816], 'number': [1023, 2726, 3025], 'divisions': [1026], 'required': [1028], 'extrafetal': [1030], 'developing': [1031], 'tissues': [1032, 1036, 1292], 'early': [1038, 1047, 2171, 3991], 'development;': [1039], 'hence,': [1040], 'theoretically,': [1041], 'stages': [1048], 'development': [1050, 2618], 'likely': [1053, 2487, 3942], 'occur': [1055], 'lineages48.': [1063], 'gold': [1065, 1841, 2196], 'standard': [1066, 1842, 2197, 4368, 4424], 'method': [1067, 2199, 4353], 'CV': [1073, 1104, 1152, 1182, 1458, 1484, 1771, 1803, 1946, 2050, 3293, 3313, 3416, 3425, 3756], 'includes': [1074], 'combined': [1076, 1097], 'karyotype': [1077, 1191, 1562], 'cytotrophoblast': [1081, 1123, 1250, 1320, 1546, 1565, 1673, 2204, 2532, 2544, 2985, 3010, 3043, 3096, 3130, 3657], '(by': [1082, 1090], "'direct'": [1083], 'preparation)': [1084], 'mesenchymal': [1088, 1255, 3420], 'core': [1089, 3421], 'long-term': [1091], 'culture)49,': [1092], '50.': [1093], 'By': [1094], 'approach,': [1098], 'mosaics': [1100, 2062, 3186, 3414], 'detected': [1101, 1184, 2326, 3357, 3599, 3694, 4048], 'classified': [1107], 'three': [1109, 1146, 3192], 'types:': [1110], 'Type': [1111, 1125, 1136, 1536, 1606, 1631, 3426, 3455, 3531, 3542, 3547], '1': [1112, 1599, 1625, 3316, 3559, 3667, 3747], 'identified': [1120, 1474, 1482, 1773], 'only;': [1124, 1134], '2': [1126, 1404, 1444, 3000], 'mesenchyme': [1133, 1211, 1269, 2207], '3': [1137, 1537], 'layers': [1142, 3208], 'affected51.': [1144], 'types': [1147, 1925, 2752], 'likelihoods': [1155], 'involvement52.': [1158], 'Due': [1159, 4167], 'unpredictable': [1162, 3782], 'distribution': [1163, 1416, 1538], 'compartment': [1172], 'embryonic': [1174], 'development,': [1175, 3986], 'condition': [1179, 3673, 3707], 'confirmatory': [1190, 1749, 1843, 2184, 2452, 2481, 2608, 3907], 'amniocytes': [1194, 1222], 'should': [1195, 1826, 2089, 2333, 2533, 2593, 2619, 2646, 2697, 3911, 3951, 4143, 4317], 'discriminate': [1199], 'TFM': [1204, 1239, 1260, 1279, 1369, 3437, 3454, 3530], 'condition.': [1205], 'Thus,': [1206], 'sequential': [1207], 'cytotrophoblast,': [1210, 1587, 1747, 2582, 3475], 'corresponding': [1221], 'identify': [1224], 'six': [1230], 'classes': [1232], 'discrepancy:': [1235], 'IV,': [1240], 'aberration': [1245], 'core;': [1256], 'V,': [1261], 'cytotrophoblast;': [1274], 'III': [1277], 'VI,': [1280], 'lineage': [1286], 'generalized': [1288], '(Table': [1293, 3142], '1)52.': [1294], 'trophoblastic': [1297], 'plasma': [1304], 'layer,': [1311], 'direct': [1316], 'preparation': [1317], 'further': [1322, 3165, 4223], 'increase': [1323], 'our': [1324], 'understanding': [1325], 'testing.': [1330, 1893, 2258], 'Such': [1331], 'study': [1333, 1349, 2010, 3069], 'indeed': [1335], '1001': [1339], 'placentas': [1341], 'sequentially': [1343], 'characterized': [1344], 'karyotyping52.': [1346], 'This': [1347, 1760, 2009, 2339, 4314, 4370], 'large': [1348, 4437], 'elucidated': [1353], 'main': [1355, 2877], 'findings.': [1356, 2466], 'First,': [1357], 'consistent': [1360, 3812], 'evidence': [1361, 1724, 2950, 3608], 'chromosome-specific': [1363, 1917, 1937], 'differences': [1364, 1918], 'frequency': [1367, 1921, 2080, 2113, 2537, 3289], 'among': [1372, 1452, 1929], 'aneuploidies.': [1375, 2748], 'fact,': [1377, 3725, 4141], 'likelihood': [1387, 1490, 3759], 'involvement': [1390, 1493, 1517, 3306, 3335], 'depends': [1391, 1665, 3378, 3862], 'combination': [1394, 3955], '(1,': [1403], '3)': [1406, 1601, 1627, 3318], 'modality': [1408], '(abnormal': [1409], 'non-mosaic)': [1413], 'involved': [1428, 1456, 3284], 'line.': [1440], 'For': [1441, 2401, 4108], 'example,': [1442], '7': [1446], 'frequent': [1450], '(77': [1460], '74': [1462], 'out': [1464], '504': [1466], 'trisomies,': [1468, 3804], 'respectively),': [1469], 'however': [1470], 'follow-up': [1476, 1959, 1999, 4455], 'less': [1480], '(n': [1485, 1496, 1500, 1508], '=': [1486, 1497, 1501, 1509, 1520, 3558], '42)': [1487], '2.4%': [1495], '1).': [1498], '56)': [1502], 'small': [1504, 1530], 'supernumerary': [1505, 1531], 'marker': [1506, 1532, 3522], 'chromosomes': [1507, 1533, 3176], '65)': [1510], 'highest': [1513], '(34%;': [1518], 'n': [1519], '19': [1521], '22,': [1523], 'respectively).': [1524], 'However,': [1525, 1863, 2348, 3387], 'non-mosaic': [1550], 'mesenchyme,': [1551], 'confirmation': [1556, 1830, 3762], 'increases': [1557], '100%52.': [1559], 'Second,': [1560], 'does': [1566, 2341], 'always': [1568], 'match': [1569, 2606], 'about': [1575, 3962], '1%': [1576], '(514/60': [1580], '347;': [1581], '0.85%': [1582], '(95%': [1583, 2381, 2386, 2392, 2398, 2411, 2417, 2423, 2429], 'CI,': [1584, 2382, 2387, 2393, 2399, 2412, 2418, 2424, 2430], '0.78–0.93%))': [1585], 'fetus,': [1591, 2521, 2570, 2691], 'contains': [1592], 'aneuploid': [1594], '(CPM': [1597, 1623, 3665, 3745], 'Types': [1598, 1624, 3315, 3666, 3746], 'vice': [1603], 'versa': [1604], '(TFM': [1605, 1630, 3541], '5)30,': [1607], '52.': [1608], 'opposing': [1611], 'constitutions': [1613], 'compartments': [1617, 3202], 'potentially': [1619], 'false-negative': [1629, 1640, 3467, 3526], '5)': [1632], '(Figure': [1637, 2718], '1)30.': [1638], 'calculated': [1644, 1979], '1/136': [1647], '1/64': [1652], '1/135': [1655], '1/14': [1659], 'MX30.': [1661, 1719], 'level': [1668, 3789, 3813, 3866, 4403], 'specific': [1680, 2767, 3382], 'assay': [1681], 'lower': [1684, 3134, 3973, 4365], 'levels.': [1685], 'conservative': [1689, 3487], 'cut-off': [1690], '30%': [1692], 'detectable': [1693], '(30%': [1697], '70%': [1700], 'cells),': [1702], 'estimated': [1704], '1/3754': [1707], '1/7472': [1710], '1/7372': [1713], '1/1421': [1717], 'Based': [1720, 3983], 'above': [1723], 'high-risk': [1727, 1953, 2018, 2074, 2189, 2282, 3635, 3848], 'possibly': [1732], 'arise': [1733], 'truly': [1737, 3639], 'conceptus': [1739, 3641, 3710], 'falsely': [1742, 3598, 3655, 4056], '(homogeneous': [1743], 'mosaic)': [1745], 'procedure': [1751, 1766, 1844, 2035, 2128, 2186], 'recommended': [1753, 1765], 'distinguish': [1755], 'conditions53-57.': [1759], 'analogous': [1762], 'first-trimester': [1775], 'considered': [1784], 'approach': [1787, 2295, 2304, 2340], 'same': [1791, 4110], 'tissue,': [1792, 3701], 'cytotrophoblast.': [1795], 'There': [1796, 2455, 2749, 3411], 'debate': [1799], 'whether': [1802], 'sampling': [1804], '(CVS)': [1805], 'appropriate': [1807], 'whether,': [1809], 'due': [1810, 3511, 3528, 3600], 'possibility': [1813], 'again': [1815], 'obtaining': [1816, 1940, 2043], 'amniocentesis': [1824, 1883, 2098, 2125, 2181, 2929], 'alone': [1825], 'used': [1828, 2276, 4157], 'involvement.': [1833], 'Karyotyping': [1834], 'amniotic': [1836, 3696], 'fluid': [1837, 3697], 'mainly': [1849], 'placental,': [1855], 'thus': [1856, 3583], 'avoiding': [1857], 'issue': [1859, 4374], 'discrepancies.': [1862], 'whereas': [1864], 'trimester': [1873, 2095], '(≥': [1874], '9–10': [1875], "weeks'": [1876, 4088], 'gestation,': [1877], 'depending': [1878, 2460], 'used),': [1882], 'requires': [1884], 'minimum': [1886], '15': [1890, 4087], 'weeks': [1891], 'Some': [1894, 2841], 'women': [1895, 2886, 2909, 4053], 'perceive': [1897], 'delay': [1899], 'psychologically': [1901], 'untenable,': [1902, 4106], 'might': [1904], 'lead': [1906, 3912], 'unconfirmed': [1909], 'voluntary': [1910], 'termination': [1911], 'pregnancy58.': [1913], 'if': [1947, 2103, 2132, 2141, 2174, 3489, 3827], 'CVS': [1948, 1992, 2031, 2147, 2178], 'result,': [1955, 2163], 'would': [1957, 3355, 3399, 3537, 3594, 3816], 'require': [1958, 2343], 'amniocentesis:': [1960], '4%': [1964], '22%': [1967], '59%': [1971], 'MX59.': [1973], 'risks': [1975], 'studied': [1977], 'retrospective': [1983], 'prospectively': [1987], 'collected': [1988], 'database': [1989], 'results.': [1993, 2965], 'Despite': [1994], 'various': [1995], 'limitations,': [1996], 'limited': [1998, 3239, 4001], 'delivery,': [2001], 'presently': [2007], 'available.': [2008], 'suggests': [2011, 2951], 'that,': [2012, 2263, 2309], 'reasonable': [2028], 'offer': [2030], 'choice': [2037, 2130], 'equal': [2052], 'slightly': [2055], 'overall': [2059], 'population': [2067, 3227], '(∼2%)52.': [2068], 'MX,': [2078, 3105], 'deferred': [2091], 'sonogram': [2105, 2134, 2603], 'normal.': [2107], 'When': [2108, 2556, 2675, 3670], 'involved,': [2111], 'relatively': [2118], 'likewise': [2121], 'warrant': [2123], '(especially': [2131], 'normal).': [2136], 'As': [2137, 3483, 3624, 3793], 'rule,': [2140], 'detects': [2145], 'anomalies,': [2146], 'offered': [2150], 'patient': [2153], 'regardless': [2154], 'obvious': [2167, 4132], 'benefits': [2168, 4200], 'diagnosis.': [2172], 'Practically,': [2173], 'woman': [2176, 3927], 'chooses': [2177], 'rather': [2179, 4229], 'analyzing': [2201, 4436], 'necessary': [2209, 4091, 4254], 'accurate': [2214, 2307], 'assessment': [2216], 'involvement59.': [2219], 'Non-invasive': [2220], 'determination': [2221], 'ethical': [2226], 'problems': [2227], 'derive': [2229], 'selection': [2232, 4008], 'non-medical': [2234], 'reasons60.': [2235], 'professional': [2237], 'societies': [2238], 'preimplantation': [2240], 'made': [2244], 'recommendations': [2245, 2251], 'regarding': [2246], 'embryo': [2247], 'testing61,': [2249], 'provided': [2255], 'Previous': [2259], 'noted': [2262], 'determining': [2265], 'Y': [2270, 2322, 2707], 'chromosome,': [2271], 'setting': [2280], 'serious': [2287], 'X-linked': [2288], 'disorders)': [2289], 'actually': [2291, 3972], 'refer': [2292], 'diagnosis62-64.': [2299], 'reason': [2301], 'so': [2306], 'just': [2312], 'few': [2314], 'loci,': [2317], 'easily': [2327], 'against': [2328], "mother's": [2330], 'background,': [2331], 'reflect': [2334], 'absence': [2336, 2499], 'Y-SNPs.': [2338], 'complex': [2344], 'algorithms': [2345, 4432], 'computations.': [2347], "'counting'": [2355], 'Y-specific': [2356], 'sequences': [2357, 3518], 'genotyping': [2361], 'them': [2362, 3354], 'SNPs.': [2364], 'Fetal': [2365], 'concordance': [2367], 'SNP-based': [2370], 'reported': [2373, 2406, 2551, 3011, 3112], '358/358': [2379], 'female': [2380, 2391, 2410, 2422, 2520, 2529, 2563, 2638, 2683], '99.0–100%),': [2383], '418/418': [2384], '99.1–100%)65,': [2388], '253/253': [2390], '98.5–100%)': [2394], '161/161': [2396], '97.67–100%)40.': [2400], 'counting': [2402], '243/249': [2409], '94.8–99.1%)': [2413], '227/229': [2415], '96.9–99.9%)66,': [2419], '1681/1685': [2421], '99.39–99.91%)': [2425], '1634/1637': [2427], '99.46–99.94%)67,': [2431], '68.': [2432, 2720, 3125], 'Occasionally': [2433], 'gender': [2439, 2515, 2564, 2630, 2684], 'observations': [2445], 'genitalia': [2448, 2509, 2599, 2636], 'result68.': [2454], 'several': [2457, 2923], 'etiologies': [2459], 'combinations': [2463], 'conflicting': [2465], 'After': [2467], 'excluding': [2468], 'laboratory': [2469, 4116, 4423, 4464], 'errors,': [2472], 'findings,': [2485], 'discrepancy': [2490], 'issue,': [2494], "'confounding'": [2495], 'genotype': [2496], 'quality-control': [2501], 'steps.': [2502], 'Specifically,': [2503, 2622, 3322], 'findings': [2506, 2558, 2633, 2687, 3736], 'indicate': [2512, 2561, 2627, 2681], 'indicates': [2518, 2567], 'then': [2522, 2640, 3524], 'low/insufficient': [2523], 'FF,': [2524, 4445], 'cotwin': [2525, 2584], 'demise': [2526, 2585], '45,X': [2531, 2543], 'suspected.': [2535, 2595], '∼1/24': [2554], '00058.': [2555], 'transplantation/transfusion': [2592], 'Conversely,': [2596], 'seen': [2600], 'do': [2604, 3471], 'results,': [2612], 'disorder': [2615], 'sexual': [2617], 'considered.': [2621], 'feminization': [2641], '46,XY': [2644], 'suspected': [2648, 2699], '(i.e.': [2649, 2700, 2777, 4354], 'Smith–Lemli–Opitz': [2650], 'syndrome': [2651], '(OMIM': [2652, 2661, 2673], '#270400),': [2653], 'incidence': [2654, 2663, 3576], '1/20': [2655, 2664], '000–1/40': [2656], '000;': [2657], 'androgen': [2658], 'receptor': [2659], 'defects': [2660], '#300068),': [2662], '000–1/64': [2665], '000': [2666], 'births;': [2668], 'deficiency': [2670], '5α-reductase': [2672], '#264600)).': [2674], 'masculinization': [2692], '46,XX': [2695], 'cryptic': [2704], 'sex-determining': [2705], 'region': [2706], 'sequence,': [2708], 'exogenous': [2709], 'androgens,': [2710], 'congenital': [2711], 'adrenal': [2712], 'hyperplasia': [2713], 'androgen-producing': [2716], 'tumor)': [2717], '2)36,': [2719], 'Screening': [2721], 'copy': [2725], 'variations': [2727], '(CNVs)': [2728], 'interesting': [2736], 'topic': [2737], 'discussion': [2739], 'relation': [2741], 'beyond': [2745], 'CNVs:': [2757], '(i)': [2758, 4256], 'investigating': [2759, 2794], 'restricted': [2760], 'panels': [2761], 'pathogenic': [2763, 3940], 'CNVs': [2764, 2795, 2802, 2809, 2846, 2855, 2874, 3921], '(pCNVs)': [2765], 'targeting': [2766], 'critical': [2768, 4373], 'well-known': [2772], 'highly': [2773], 'penetrant': [2774], 'genomic': [2775, 3231], 'syndromes': [2776], '22q11,': [2778], '15q11,': [2779], '5p-,': [2780], '4p-,': [2781], '1p36)': [2782], 'ranging': [2784], '1.5': [2786], '∼30': [2788], 'Mb': [2789, 2812, 2832], 'size;': [2791], '(ii)': [2793, 4291], 'located': [2796, 2824], 'across': [2797], 'genome': [2800], '(genome-wide': [2801], '(GW-CNVs)),': [2803], 'investigates': [2805], '≥': [2810], '7–10': [2811, 2831], '(depending': [2813], 'test)': [2818], 'size': [2820, 2829], '(including': [2821], 'chromosomes.': [2827], 'resolution': [2836], 'metaphases.': [2840], 'intriguing': [2842], 'aspects': [2843], 'candidates': [2850], 'additional': [2852, 3879], 'targets.': [2854, 3232], 'prevalent': [2857], '1.7%': [2859], 'anatomically': [2861], 'fetuses': [2863], 'karyotype,': [2866], 'constant': [2867], 'ages,': [2871], 'resulting': [2872], 'being': [2875, 3433], 'younger': [2885], 'without': [2887, 4130], 'abnormalities69.': [2889], 'technologies': [2893], 'allow': [2894, 4267], 'many': [2903], 'possible,': [2906], 'thereby': [2907], 'options': [2911], 'avoid': [2913], 'complications': [2915], 'related': [2916], 'procedures,': [2919], 'publications': [2924], 'indicating': [2925], 'safety': [2927], 'non-anomalous': [2931], 'fetuses70-72.': [2932], 'still': [2938, 4010, 4332], 'unknown': [2939, 3860], 'influencing': [2941, 4375], 'major': [2959], 'causes': [2961], 'An': [2966, 3872], 'indirect': [2967], 'proof': [2968], 'influence': [2971], 'predicting': [2987], '(positive': [2995], 'predictive': [2996, 3844, 4396], 'value': [2997, 3845], '(PPV)).': [2998], 'Table': [2999], 'summarizes': [3001], 'Gil': [3016], 'et': [3017, 3021], 'al.16': [3018], 'Grati': [3020], 'al.30.': [3022], 'cohorts': [3030, 4438], 'different,': [3032], 'display': [3035], 'trend': [3038], 'testing:': [3050], 'excellent': [3051], 'good': [3054, 3059], 'fairly': [3058], 'MX': [3062, 3136], 'SCAs.': [3065], 'Furthermore,': [3066, 4039], 'methodology': [3072], 'exclude': [3075], 'mosaicisms': [3082, 3291], 'twins,': [3085], 'FPRs': [3087], 'predicted': [3093], 'analysis16,': [3097], '58.': [3098], 'PPV': [3100, 3151], 'SCA,': [3110], '∼50%': [3115], '(lower': [3116], 'upper': [3118], 'confidence': [3119], 'boundaries': [3120], '23.7%': [3121], '76.3%,': [3123], 'respectively)58,': [3124], 'significantly': [3133], 'autosomal': [3140], '2)': [3143], 'seems': [3145, 3997], 'fit': [3147], 'poor': [3150], 'SCA34,': [3163], 'explanation': [3167], 'reside': [3169], 'tendency': [3172], 'recombine': [3178], 'create': [3180], 'generate': [3185], '46,XX/47,XXX/45,X': [3187], 'conceptus45.': [3190], 'lines': [3194], 'distributed': [3197], 'percentages': [3211], 'proportions.': [3213], 'Regarding': [3214], 'CNVs,': [3218, 3582, 3797], 'limitations': [3221, 4202], 'drawbacks': [3223], 'broad-based': [3226], 'relevant': [3235], 'relates': [3236], 'availability': [3240], 'microscopic': [3247], 'CNVs.': [3250], 'cytogenetically': [3256, 3376, 3459, 4014], 'visible': [3257, 3460], 'rearrangements': [3259, 3296, 3329, 3398, 3462, 3536], '(47,+mar,': [3260], 'unbalanced': [3261, 3458, 3534], '(UR)': [3262], 'apparently': [3264, 3327, 3451, 3496], 'balanced': [3265, 3328, 3452, 3497], 'rearrangements,': [3267], '∼8%': [3268], 'supposedly': [3271], 'underline': [3272], 'imbalances': [3274], 'phenotype)73': [3281], 'mosaicisms52.': [3287], '0.4%': [3298], '(243/60': [3299], '347)': [3300], 'involving': [3309], 'cytotrophoblasts': [3310], '(mosaic': [3311, 3423], '19%': [3320], '(21/110)52.': [3321], '47,+mar': [3323, 3503], 'UR': [3325, 3446, 3557], '41.2%': [3337], '(14/34),': [3338], '10.6%': [3339], '(7/66)': [3340], '0%': [3342], '(0/10),': [3343], 'respectively52.': [3344], 'difficult': [3347, 3586], 'determine': [3349, 3588], 'exactly': [3350, 3589], 'what': [3351, 3590], 'proportion': [3352, 3591], 'GW-CNVs': [3365], 'partial': [3370, 3796], 'imbalances,': [3371], 'visible,': [3377], 'largely': [3379, 3784, 3863], 'sequencing': [3385], 'depth.': [3386], 'clear': [3390], '(significant)': [3393], 'source': [3402], 'GW-CNVs.': [3410], 'involve': [3418, 3473], '2).': [3427], 'They': [3428], 'confirmed': [3434], '25.8%': [3439], '(8/31)': [3440], '47,+mar,': [3442], '7.9%': [3443], '(6/76)': [3444], '19.2%': [3448], '(5/26)': [3449], 'rearrangements52.': [3453], '5': [3456, 3532, 3543, 3548], 'sources': [3464], 'target': [3479], 'tests.': [3482, 3908, 4313], 'rough': [3485], 'estimate,': [3488], 'we': [3490], 'consider': [3491], 'UR,': [3492], '8%': [3493], 'ones': [3498], '13%': [3500], 'outcome': [3510], 'euchromatic': [3516], '(coding)': [3517], 'extra': [3521], 'chromosome73,': [3523], '∼1/42': [3539], '(∼2.4%)': [3540], '(47,+mar': [3544, 3549], '+': [3545, 3550, 3552, 3560, 3562, 3564, 3566, 3568], 'UR)/TFM': [3546], 'UR)': [3551], 'positive': [3554], '6': [3561, 3565], '0.4/1': [3563], '0.4': [3567], '300)52.': [3569], 'Currently': [3570], 'no': [3571, 4487], 'pCNVs': [3593], 'missed': [3596], 'exist74.': [3611], 'With': [3612], 'GW-CNVs,': [3616], 'triploidies': [3617], 'targeted.': [3623], 'previously,': [3626], 'situations': [3632], 'generating': [3633], 'result:': [3637], '(both': [3642], 'affected': [3646], 'homogeneous': [3649], 'form)': [3652], '3).': [3669], 'trisomy,': [3677], 'despite': [3678], 'fact': [3680], 'literature': [3689], 'such': [3705], 'unlikely': [3712], 'clinically': [3717], 'recognized': [3718], 'viable': [3722], 'birth.': [3723], 'are,': [3731], 'contrary,': [3734], 'products': [3738], 'conception83.': [3740], 'situation': [3744], '3),': [3749], 'showing': [3757], '4': [3767], '(T4)': [3768], '16': [3770], '(T16)52.': [3771], 'Clinical': [3772], 'consequences': [3773], 'T16': [3778], 'T4': [3780], 'dependent': [3785], 'fetus84-93.': [3792], "'large'": [3795], 'tissue': [3809], 'trigger': [3817], 'lethal': [3823], 'phenotype.': [3824], 'Finally,': [3825, 4081], 'sign': [3835], 'complication': [3838], 'intrauterine': [3840], 'growth': [3841], 'restriction,': [3842], 'remains': [3859], 'expected': [3873], 'unnecessary': [3889], 'procedures.': [3891], 'We': [3892], 'already': [3894, 4310], 'seeing': [3895], 'commercial': [3897], 'race': [3898], 'expand': [3900], 'indications': [3901], 'consequently,': [3905], 'concerns': [3910], 'extreme': [3914], 'caution': [3915], 'proposing': [3917], 'women.': [3924], 'If': [3925], 'concerned': [3929], 'her': [3931], '1/60': [3932], '(1.7%)': [3933], 'pCNVs69,': [3943], 'CMA': [3944], 'invasively': [3947], 'obtained': [3948], 'proposed': [3953], 'updated': [3960], 'information': [3961], 'pregnancy-loss': [3963], 'consequent': [3965, 4187], 'procedure,': [3969], 'historical': [3976], '0.5–1%': [3977], 'non-malformed': [3980], 'fetuses71,': [3981], '72.': [3982], '(<': [3994], '11': [3995], 'value.': [4003], 'Prior': [4004], 'this,': [4006], 'natural': [4007], 'triggering': [4011], 'elimination': [4012], 'conceptuses.': [4016], 'scan': [4022], 'instead': [4023], 'requiring': [4032], 'cannot': [4035], 'reliably.': [4038], 'test,': [4052], 'reassured': [4057], 'low-risk': [4060, 4128], 'account': [4067], 'abnormalities94.': [4080], 'wait': [4083], 'up': [4085], 'gestation': [4089], 'make': [4093], 'definitive': [4095], 'amniocentesis,': [4098], 'avoidable': [4102], 'prolonged,': [4103], 'sometimes': [4105], 'anxiety.': [4107], 'reasons,': [4111], 'stress': [4113], 'rapid': [4115], 'reporting': [4117, 4149], 'mitigated': [4123], 'any': [4131], 'routine': [4137], '12-week': [4138], 'scan.': [4139], 'emphasis': [4142], 'placed': [4145], 'improving': [4147], 'turnaround': [4150], 'contingent': [4160], 'model': [4161], 'test95.': [4166], 'complexity': [4170], 'biology': [4173], 'continuously': [4180], 'changing': [4181], 'scenario': [4182], 'application': [4190, 4413], 'genome-wide': [4192], 'technologies,': [4193], 'counseling': [4197], 'vs': [4205], 'occur.': [4213], 'Future': [4214], 'will': [4220, 4252], 'certainly': [4221], 'addressed': [4224], 'improve': [4226, 4305], "'quality'": [4228], "'quantity'.": [4232], 'More': [4233], 'poorly': [4244], 'validated': [4245], 'uncertain': [4248], 'value,': [4250], 'to:': [4255], 'work': [4257], 'simplification,': [4260], 'automation': [4261], 'standardization': [4263], 'protocols': [4265, 4418], 'effective': [4269], 'robust': [4271, 4415], 'regionalization': [4272], 'tests,': [4275], 'reduction': [4277], 'costs': [4279], 'improvement': [4281], 'standards': [4285], 'laboratories': [4287], 'testing;': [4290], 'perform': [4292], 'statistically': [4293, 4447], 'powered': [4294], 'perspective': [4296], 'validation': [4297, 4358, 4406], 'emerging': [4301], 'technologies;': [4302], '(iii)': [4304], 'accuracy': [4307], 'consolidated': [4311], 'last': [4315], 'point': [4316], 'integration': [4319], 'measurement': [4323], 'each': [4325], 'submitted': [4327], 'doing': [4334], 'so,': [4335], 'harmonization': [4336], 'measuring': [4342], "'gold": [4350], "standard'": [4351], 'reference': [4352], 'Y-chromosome': [4355], 'measurement)': [4356], 'levels': [4364], '4%.': [4369], 'failure': [4383], 'turn,': [4394], 'values': [4397], 'results17.': [4400], 'achieved': [4410], 'through': [4411], 'codified': [4417], 'institute': [4425], '(EP17-A2': [4426], 'procedure)': [4427], 'revalidation': [4429], 'samples,': [4440, 4473], 'powered,': [4448], 'prospective': [4449], 'delivery.': [4457], 'TOMA': [4458], 'Lab': [4459], 'microarray': [4470], 'aneuploidy.': [4484], 'F.R.G.': [4485], 'financial': [4488], 'disclosures.': [4489]}, 'cited_by_api_url': 'https://api.openalex.org/works?filter=cites:W2413895862', 'counts_by_year': [{'year': 2024, 'cited_by_count': 2}, {'year': 2023, 'cited_by_count': 8}, {'year': 2022, 'cited_by_count': 5}, {'year': 2021, 'cited_by_count': 6}, {'year': 2020, 'cited_by_count': 7}, {'year': 2019, 'cited_by_count': 7}, {'year': 2018, 'cited_by_count': 6}, {'year': 2017, 'cited_by_count': 3}, {'year': 2016, 'cited_by_count': 1}], 'updated_date': '2024-12-12T08:46:53.802505', 'created_date': '2016-06-24'}