{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,17]],"date-time":"2026-07-17T13:56:39Z","timestamp":1784296599301,"version":"3.55.0"},"reference-count":34,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2022,7,1]],"date-time":"2022-07-01T00:00:00Z","timestamp":1656633600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2022,7,1]],"date-time":"2022-07-01T00:00:00Z","timestamp":1656633600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2022,7,1]],"date-time":"2022-07-01T00:00:00Z","timestamp":1656633600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2022,7,1]],"date-time":"2022-07-01T00:00:00Z","timestamp":1656633600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2022,7,1]],"date-time":"2022-07-01T00:00:00Z","timestamp":1656633600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2022,7,1]],"date-time":"2022-07-01T00:00:00Z","timestamp":1656633600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2022,7,1]],"date-time":"2022-07-01T00:00:00Z","timestamp":1656633600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Seminars in Pediatric Neurology"],"published-print":{"date-parts":[[2022,7]]},"DOI":"10.1016\/j.spen.2022.100976","type":"journal-article","created":{"date-parts":[[2022,4,30]],"date-time":"2022-04-30T07:49:05Z","timestamp":1651304945000},"page":"100976","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":15,"special_numbering":"C","title":["Prenatal Genetic Testing and Screening: A Focused Review"],"prefix":"10.1016","volume":"42","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9846-2219","authenticated-orcid":false,"given":"Valentina","family":"Caceres","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Murray","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cortlandt","family":"Myers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kareesma","family":"Parbhoo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"10","key":"10.1016\/j.spen.2022.100976_bib0001","doi-asserted-by":"crossref","first-page":"1445","DOI":"10.7863\/jum.2010.29.10.1445","article-title":"Role of first-trimester sonography in the diagnosis of aneuploidy and structural fetal anomalies","volume":"29","author":"Abu-Rustum","year":"2010","journal-title":"J Ultrasound Med"},{"key":"10.1016\/j.spen.2022.100976_bib0002","series-title":"Obstetrics Essentials","first-page":"237","article-title":"Prenatal diagnostic testing for genetic disorders","author":"Arnold","year":"2017"},{"issue":"4","key":"10.1016\/j.spen.2022.100976_bib0003","doi-asserted-by":"crossref","first-page":"e48","DOI":"10.1097\/AOG.0000000000004084","article-title":"Screening for fetal chromosomal abnormalities: ACOG practice bulletin, number 226","volume":"136","author":"Rose","year":"2020","journal-title":"Obstetr Gynecol"},{"issue":"4","key":"10.1016\/j.spen.2022.100976_bib0004","doi-asserted-by":"crossref","first-page":"E96","DOI":"10.1097\/AOG.0000000000002020","article-title":"Counseling about genetic testing and communication of genetic test results","volume":"129","author":"Biggio Jr","year":"2017","journal-title":"Obstet Gynecol"},{"key":"10.1016\/j.spen.2022.100976_bib0005","first-page":"1","article-title":"The fetus in the age of the genome","author":"Schmitz","year":"2021","journal-title":"Hum Genet"},{"issue":"3","key":"10.1016\/j.spen.2022.100976_bib0006","doi-asserted-by":"crossref","first-page":"651","DOI":"10.1097\/01.AOG.0000278570.76392.a6","article-title":"First-and second-trimester screening: Detection of aneuploidies other than Down syndrome","volume":"110","author":"Breathnach","year":"2007","journal-title":"Obstetr Gynecol"},{"issue":"6","key":"10.1016\/j.spen.2022.100976_bib0007","doi-asserted-by":"crossref","first-page":"540","DOI":"10.1097\/00125817-200411000-00013","article-title":"Second trimester maternal serum screening for fetal open neural tube defects and aneuploidy","volume":"6","author":"Driscoll","year":"2004","journal-title":"Genet Med"},{"issue":"11","key":"10.1016\/j.spen.2022.100976_bib0008","doi-asserted-by":"crossref","first-page":"818","DOI":"10.1097\/GIM.0b013e3181bb267b","article-title":"Screening for fetal aneuploidy and neural tube defects","volume":"11","author":"Driscoll","year":"2009","journal-title":"Genet Med"},{"issue":"1","key":"10.1016\/j.spen.2022.100976_bib0009","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1136\/jms.9.1.43","article-title":"Assigning risk for Smith-Lemli-Opitz syndrome as part of 2nd trimester screening for Down's syndrome","volume":"9","author":"Palomaki","year":"2002","journal-title":"J Med Screen"},{"issue":"3","key":"10.1016\/j.spen.2022.100976_bib0010","doi-asserted-by":"crossref","first-page":"227","DOI":"10.1002\/pd.1970140316","article-title":"Prenatal detection of X-linked ichthyosis by maternal serum screening for Down syndrome","volume":"14","author":"Bartels","year":"1994","journal-title":"Prenat Diagn"},{"issue":"8","key":"10.1016\/j.spen.2022.100976_bib0011","doi-asserted-by":"crossref","first-page":"845","DOI":"10.1038\/gim.2017.91","article-title":"Diagnostic cytogenetic testing following positive noninvasive prenatal screening results: A clinical laboratory practice resource of the American College of Medical Genetics and Genomics (ACMG)","volume":"19","author":"Cherry","year":"2017","journal-title":"Genet Med"},{"issue":"7","key":"10.1016\/j.spen.2022.100976_bib0012","doi-asserted-by":"crossref","first-page":"937","DOI":"10.1038\/s41431-018-0132-4","article-title":"Circulating cell-free nucleic acids: Characteristics and applications","volume":"26","author":"P\u00f6s","year":"2018","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.spen.2022.100976_bib0013","series-title":"Cell-free fetal DNA coming in all sizes and shapes","author":"Chiu","year":"2021"},{"issue":"6","key":"10.1016\/j.spen.2022.100976_bib0014","doi-asserted-by":"crossref","first-page":"711","DOI":"10.1016\/j.ajog.2015.03.043","article-title":"Prenatal aneuploidy screening using cell-free DNA. SMFM Consult Series# 36","volume":"212","author":"f. M.-F. Medicine","year":"2015","journal-title":"Am J Obstet Gynecol"},{"issue":"1","key":"10.1016\/j.spen.2022.100976_bib0015","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1016\/j.tjog.2019.11.003","article-title":"Causes of aberrant non-invasive prenatal testing for aneuploidy: A systematic review","volume":"59","author":"Samura","year":"2020","journal-title":"Taiwanese J Obstetr Gynecol"},{"issue":"6","key":"10.1016\/j.spen.2022.100976_bib0016","doi-asserted-by":"crossref","first-page":"804","DOI":"10.1002\/uog.20290","article-title":"First-trimester screening for trisomies by cfDNA testing of maternal blood in singleton and twin pregnancies: Factors affecting test failure","volume":"53","author":"Galeva","year":"2019","journal-title":"Ultrasound Obstetr Gynecol"},{"issue":"10","key":"10.1016\/j.spen.2022.100976_bib0017","doi-asserted-by":"crossref","first-page":"1056","DOI":"10.1038\/gim.2016.97","article-title":"Noninvasive prenatal screening for fetal aneuploidy, 2016 update: A position statement of the American College of Medical Genetics and Genomics","volume":"18","author":"Gregg","year":"2016","journal-title":"Genet Med"},{"issue":"4","key":"10.1016\/j.spen.2022.100976_bib0018","doi-asserted-by":"crossref","first-page":"501","DOI":"10.3390\/genes12040501","article-title":"Chances and challenges of new genetic screening technologies (NIPT) in prenatal medicine from a clinical perspective: A narrative review","volume":"12","author":"Bedei","year":"2021","journal-title":"Genes"},{"issue":"1","key":"10.1016\/j.spen.2022.100976_bib0019","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1038\/s41598-019-50378-8","article-title":"A novel high-throughput molecular counting method with single base-pair resolution enables accurate single-gene NIPT","volume":"9","author":"Tsao","year":"2019","journal-title":"Sci Rep"},{"issue":"3","key":"10.1016\/j.spen.2022.100976_bib0020","doi-asserted-by":"crossref","first-page":"439","DOI":"10.1038\/s41591-018-0334-x","article-title":"Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA","volume":"25","author":"Zhang","year":"2019","journal-title":"Nat Med"},{"key":"10.1016\/j.spen.2022.100976_bib0021","first-page":"1","article-title":"Premature delivery in the domestic sow in response to in utero delivery of AAV9 to fetal piglets","author":"Rich","year":"2021","journal-title":"Gene Ther"},{"key":"10.1016\/j.spen.2022.100976_bib0022","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1016\/j.omtm.2021.02.014","article-title":"Adeno-associated virus serotype 9 antibodies in patients screened for treatment with onasemnogene abeparvovec","volume":"21","author":"Day","year":"2021","journal-title":"Mol Ther-Methods Clin Dev"},{"issue":"1","key":"10.1016\/j.spen.2022.100976_bib0023","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1002\/uog.14636","article-title":"Procedure-related risk of miscarriage following amniocentesis and chorionic villus sampling: A systematic review and meta-analysis","volume":"45","author":"Akolekar","year":"2015","journal-title":"Ultrasound Obstetr Gynecol"},{"issue":"3","key":"10.1016\/j.spen.2022.100976_bib0024","doi-asserted-by":"crossref","first-page":"807","DOI":"10.1016\/S0002-9378(96)70304-6","article-title":"Chorionic villus sampling safety Report of World Health Organization\/EURO meeting in association with the Seventh International Conference on Early Prenatal Diagnosis of Genetic Diseases, Tel-Aviv, Israel, May 21, 1994","volume":"174","author":"Kuliev","year":"1996","journal-title":"Am J Obstet Gynecol"},{"key":"10.1016\/j.spen.2022.100976_bib0025","series-title":"Prenatal Diagnosis","first-page":"147","article-title":"Rapid detection of fetal Mendalian Disorders: Tay-Sachs disease","author":"Guetta","year":"2008"},{"issue":"8118","key":"10.1016\/j.spen.2022.100976_bib0026","doi-asserted-by":"crossref","first-page":"685","DOI":"10.1016\/S0140-6736(79)91144-9","article-title":"Amniotic-fluid acetylcholinesterase as a possible diagnostic test for neural-tube defects in early pregnancy","volume":"313","author":"Smith","year":"1979","journal-title":"Lancet North Am Ed"},{"issue":"6","key":"10.1016\/j.spen.2022.100976_bib0027","doi-asserted-by":"crossref","first-page":"e262","DOI":"10.1097\/AOG.0000000000001817","article-title":"Microarrays and next-generation sequencing technology: The use of advanced genetic diagnostic tools in obstetrics and gynecology","volume":"128","author":"Vora","year":"2016","journal-title":"Obstet Gynecol"},{"issue":"10173","key":"10.1016\/j.spen.2022.100976_bib0028","doi-asserted-by":"crossref","first-page":"747","DOI":"10.1016\/S0140-6736(18)31940-8","article-title":"Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): A cohort study","volume":"393","author":"Lord","year":"2019","journal-title":"Lancet North Am Ed"},{"issue":"10173","key":"10.1016\/j.spen.2022.100976_bib0029","doi-asserted-by":"crossref","first-page":"758","DOI":"10.1016\/S0140-6736(18)32042-7","article-title":"Whole-exome sequencing in the evaluation of fetal structural anomalies: A prospective cohort study","volume":"393","author":"Petrovski","year":"2019","journal-title":"Lancet North Am Ed"},{"key":"10.1016\/j.spen.2022.100976_bib0030","doi-asserted-by":"crossref","first-page":"761","DOI":"10.3389\/fgene.2019.00761","article-title":"Prenatal diagnosis of fetuses with increased nuchal translucency by genome sequencing analysis","volume":"10","author":"Choy","year":"2019","journal-title":"Front Genet"},{"issue":"9","key":"10.1016\/j.spen.2022.100976_bib0031","doi-asserted-by":"crossref","first-page":"1121","DOI":"10.1007\/s00439-019-02088-4","article-title":"The current and future impact of genome-wide sequencing on fetal precision medicine","volume":"139","author":"Sabbagh","year":"2020","journal-title":"Hum Genet"},{"issue":"3","key":"10.1016\/j.spen.2022.100976_bib0032","doi-asserted-by":"crossref","DOI":"10.3390\/genes12030376","article-title":"Whole genome sequencing in the evaluation of fetal structural anomalies: A parallel test with chromosomal microarray plus whole exome sequencing","volume":"12","author":"Zhou","year":"2021","journal-title":"Genes (Basel)"},{"issue":"1","key":"10.1016\/j.spen.2022.100976_bib0033","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1002\/pd.5195","article-title":"Joint Position Statement from the International Society for Prenatal Diagnosis (ISPD), the Society for Maternal Fetal Medicine (SMFM), and the Perinatal Quality Foundation (PQF) on the use of genome-wide sequencing for fetal diagnosis","volume":"38","author":"Diagnosis","year":"2018","journal-title":"Prenat Diagn"},{"issue":"1","key":"10.1016\/j.spen.2022.100976_bib0034","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1007\/s12291-012-0269-9","article-title":"First trimester maternal serum screening using biochemical markers PAPP-A and free \u03b2-hCG for down syndrome, patau syndrome and edward syndrome","volume":"28","author":"Shiefa","year":"2013","journal-title":"Indian J Clin Biochem"}],"container-title":["Seminars in Pediatric Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1071909122000249?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1071909122000249?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,21]],"date-time":"2025-10-21T06:40:01Z","timestamp":1761028801000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1071909122000249"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,7]]},"references-count":34,"alternative-id":["S1071909122000249"],"URL":"https:\/\/doi.org\/10.1016\/j.spen.2022.100976","relation":{},"ISSN":["1071-9091"],"issn-type":[{"value":"1071-9091","type":"print"}],"subject":[],"published":{"date-parts":[[2022,7]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Prenatal Genetic Testing and Screening: A Focused Review","name":"articletitle","label":"Article Title"},{"value":"Seminars in Pediatric Neurology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.spen.2022.100976","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2022 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}],"article-number":"100976"}}