{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T14:52:25Z","timestamp":1792075945791,"version":"4.4.0"},"reference-count":41,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2024,6,13]],"date-time":"2024-06-13T00:00:00Z","timestamp":1718236800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Med."],"abstract":"<jats:p>Since its debut in 2011, Non-Invasive Prenatal Testing (NIPT) has continually demonstrated its effectiveness in detecting an expanding number of diseases. NIPT offers a less invasive approach to prenatal chromosomal disease screening, providing prospective parents with vital information to better prepare for their potential pregnancy outcomes. NIPT was primarily designed for screening trisomy 13, 18, and 21. However, its scope has since broadened to encompass microdeletions and autosomal dominant monogenic diseases. Conversely, the normalization of NIPT can have unintended consequences. Some patients opt for NIPT without any medical indications, driven by a desire to remain cautious. This over-screening for chromosomal abnormalities can exacerbate pregnancy-related anxiety, as individuals might feel pressured into taking the test unnecessarily. While NIPT can be highly successful when conducted correctly, it is not infallible, and obstetricians play a crucial role in managing patient expectations. This includes providing genetic counseling to individuals with relevant genetic information regarding their personal and family histories. In the context of NIPT, a bioinformatics analysis is performed on a cell-free DNA (cfDNA) sample extracted from the mother\u2019s placenta to determine the fetal fraction (FF). This FF measurement is vital for quality control and ensuring statistical confidence in the test results. Raising awareness among clinicians about the significance of FF enhances patient care and alleviate concerns about the possibility of failed NIPT. This paper aims to explore the ongoing debates and more specifically the significance and pitfalls of NIPT on a psychosocial and ethical scale, all while highlighting the importance of genetic counseling.<\/jats:p>","DOI":"10.3389\/fmed.2024.1388481","type":"journal-article","created":{"date-parts":[[2024,6,13]],"date-time":"2024-06-13T04:53:42Z","timestamp":1718254422000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":17,"title":["Advancements of non-invasive prenatal testing: the role of obstetricians"],"prefix":"10.3389","volume":"11","author":[{"given":"Nada","family":"Eltabbakh","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yalnaz","family":"Mohasin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rafiea","family":"Jeddy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2024,6,13]]},"reference":[{"key":"B1","doi-asserted-by":"crossref","first-page":"883","DOI":"10.1136\/bmj.297.6653.883","article-title":"Maternal serum screening for down\u2019s syndrome in early pregnancy.","volume":"297","author":"Wald","year":"1988","journal-title":"BMJ."},{"key":"B2","doi-asserted-by":"publisher","first-page":"281","DOI":"10.1080\/15513815.2019.1707919","article-title":"Fetal genetic diagnosis by chorionic villus sampling: evaluation of the five-year experience from a single center.","volume":"40","author":"\u00d6zt\u00fcrk","year":"2021","journal-title":"Fetal Pediatr Pathol."},{"key":"B3","doi-asserted-by":"publisher","DOI":"10.1016\/j.socscimed.2020.112930","article-title":"Governing the futures of non-invasive prenatal testing: an exploration of social acceptability using the Delphi method.","volume":"304","author":"Dupras","year":"2022","journal-title":"Soc Sci Med."},{"key":"B4","first-page":"735","article-title":"Non-invasive prenatal testing.","volume":"46","author":"Harraway","year":"2017","journal-title":"Aust Fam Physician."},{"key":"B5","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1038\/522029a","article-title":"Pregnancy: prepare for unexpected prenatal test results.","volume":"522","author":"Bianchi","year":"2015","journal-title":"Nature."},{"key":"B6","doi-asserted-by":"publisher","DOI":"10.3389\/fmed.2021.768997","article-title":"Trends in non-invasive prenatal screening and invasive testing in Denmark (2000-2019) and Israel (2011-2019).","volume":"8","author":"Sagi-Dain","year":"2021","journal-title":"Front Med."},{"key":"B7","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1159\/000458432","article-title":"Noninvasive prenatal testing - when is it advantageous to apply.","volume":"2","author":"Liehr","year":"2017","journal-title":"Biomed Hub."},{"key":"B8","doi-asserted-by":"publisher","first-page":"661","DOI":"10.1038\/s41431-021-00940-8","article-title":"Routinization of prenatal screening with the non-invasive prenatal test: pregnant women\u2019s perspectives.","volume":"30","author":"van der Meij","year":"2022","journal-title":"Eur J Hum Genet."},{"key":"B9","doi-asserted-by":"publisher","first-page":"595","DOI":"10.1002\/pd.5472","article-title":"Patient preferences for prenatal testing and termination of pregnancy for congenital anomalies and genetic diseases in Ethiopia.","volume":"39","author":"Brooks","year":"2019","journal-title":"Prenat Diagn."},{"key":"B10","doi-asserted-by":"publisher","first-page":"630","DOI":"10.1186\/s12884-020-03203-4","article-title":"The influence of experiential knowledge and societal perceptions on decision-making regarding non-invasive prenatal testing (NIPT).","volume":"20","author":"Montgomery","year":"2020","journal-title":"BMC Pregnancy Childbirth."},{"key":"B11","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.ogc.2017.10.008","article-title":"Genetic counseling overview for the obstetrician-gynecologist.","volume":"45","author":"Hoskovec","year":"2018","journal-title":"Obstet Gynecol Clin North Am."},{"key":"B12","author":"Kilpatrick","year":"2017","journal-title":"AAP Comm. on Fetus and Newborn; ACOG Comm. on Obstetric Practice: Guidelines for Perinatal Care."},{"key":"B13","doi-asserted-by":"crossref","first-page":"e108","DOI":"10.1097\/AOG.0000000000001405","article-title":"Practice bulletin No. 162: prenatal diagnostic testing for genetic disorders.","volume":"127","author":"Norton","year":"2016","journal-title":"Obstet Gynecol."},{"key":"B14","doi-asserted-by":"crossref","DOI":"10.3390\/genes12010015","article-title":"Non-Invasive prenatal testing: current perspectives and future challenges.","volume":"12","author":"Carbone","year":"2020","journal-title":"Genes."},{"key":"B15","first-page":"636","article-title":"Non-invasive prenatal testing (NIPT) - we need a national programme.","volume":"115","author":"Petch","year":"2022","journal-title":"Ir Med J."},{"key":"B16","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1016\/j.ejmhg.2011.02.003","article-title":"Chromosomal study in newborn infants with congenital anomalies in Assiut university hospital: cross-sectional study.","volume":"12","author":"Mohammed","year":"2011","journal-title":"Egyptian J Med Hum Genet."},{"key":"B17","doi-asserted-by":"crossref","first-page":"1107","DOI":"10.1056\/NEJMoa1908753","article-title":"Causal Genetic Variants in Stillbirth.","volume":"383","author":"Stanley","year":"2020","journal-title":"N Engl J Med."},{"key":"B18","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1002\/uog.14791","article-title":"Analysis of cell-free DNA in maternal blood in screening for fetal aneuploidies: updated meta-analysis.","volume":"45","author":"Gil","year":"2015","journal-title":"Ultrasound Obstet Gynecol."},{"key":"B19","doi-asserted-by":"publisher","first-page":"93","DOI":"10.1186\/s12920-021-00941-y","article-title":"Performance of cell-free DNA sequencing-based non-invasive prenatal testing: experience on 36,456 singleton and multiple pregnancies.","volume":"14","author":"La Verde","year":"2021","journal-title":"BMC Med Genomics."},{"key":"B20","doi-asserted-by":"publisher","first-page":"1733","DOI":"10.1093\/humrep\/deg320","article-title":"Kinetics of SRY gene appearance in maternal serum: detection by real time PCR in early pregnancy after assisted reproductive technique.","volume":"18","author":"Guibert","year":"2003","journal-title":"Hum Reprod."},{"key":"B21","doi-asserted-by":"crossref","first-page":"218","DOI":"10.1086\/302205","article-title":"Rapid clearance of fetal DNA from maternal plasma.","volume":"64","author":"Lo","year":"1999","journal-title":"Am J Hum Genet."},{"key":"B22","doi-asserted-by":"publisher","first-page":"100","DOI":"10.1002\/pd.5408","article-title":"Classification of factors involved in nonreportable results of noninvasive prenatal testing (NIPT) and prediction of success rate of second NIPT.","volume":"39","author":"Suzumori","year":"2019","journal-title":"Prenat Diagn."},{"key":"B23","doi-asserted-by":"publisher","first-page":"62","DOI":"10.1186\/s40246-019-0244-0","article-title":"Factors affecting cell-free DNA fetal fraction: statistical analysis of 13,661 maternal plasmas for non-invasive prenatal screening.","volume":"13","author":"Hou","year":"2019","journal-title":"Hum Genomics."},{"key":"B24","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2020.00280","article-title":"Sequencing shorter cfDNA fragments decreases the false negative rate of non-invasive prenatal testing.","volume":"11","author":"Xue","year":"2020","journal-title":"Front Genet."},{"key":"B25","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1177\/1753495X16652007","article-title":"Noninvasive prenatal testing for aneuploidy using cell-free DNA - new implications for maternal health.","volume":"9","author":"Hui","year":"2016","journal-title":"Obstet Med."},{"key":"B26","doi-asserted-by":"crossref","first-page":"2570","DOI":"10.3390\/diagnostics13152570","article-title":"Non-invasive prenatal testing (NIPT): reliability. challenges, and future directions.","volume":"13","author":"Jayashankar","year":"2023","journal-title":"Diagnostics."},{"key":"B27","doi-asserted-by":"crossref","first-page":"1998","DOI":"10.1038\/s41436-019-0467-4","article-title":"Clinical utility of noninvasive prenatal screening for expanded chromosome disease syndromes.","volume":"21","author":"Liang","year":"2019","journal-title":"Genet Med."},{"key":"B28","doi-asserted-by":"crossref","first-page":"1332","DOI":"10.1002\/pd.6002","article-title":"The potential of expanded noninvasive prenatal screening for detection of microdeletion and microduplication syndromes.","volume":"41","author":"Shi","year":"2021","journal-title":"Prenat Diagn."},{"key":"B29","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2022.1073851","article-title":"Performance of expanded non-invasive prenatal testing for fetal aneuploidies and copy number variations: a prospective study from a single center in Jiangxi province, China.","volume":"13","author":"Zou","year":"2022","journal-title":"Front Genet."},{"key":"B30","doi-asserted-by":"publisher","first-page":"155","DOI":"10.1002\/pd.5620","article-title":"Fetal fraction and noninvasive prenatal testing: what clinicians need to know.","volume":"40","author":"Hui","year":"2020","journal-title":"Prenat Diagn."},{"key":"B31","doi-asserted-by":"publisher","first-page":"9647","DOI":"10.1080\/14767058.2022.2050362","article-title":"Contribution of maternal mosaicism to false-positive chromosome X loss associated with noninvasive prenatal testing.","volume":"35","author":"Wan","year":"2022","journal-title":"J Matern Fetal Neonatal Med."},{"key":"B32","doi-asserted-by":"publisher","first-page":"251","DOI":"10.1373\/clinchem.2013.215145","article-title":"Maternal mosaicism is a significant contributor to discordant sex chromosomal aneuploidies associated with noninvasive prenatal testing.","volume":"60","author":"Wang","year":"2014","journal-title":"Clin Chem."},{"key":"B33","first-page":"S482","article-title":"Evaluation of a specialised counselling service for perinatal bereavement.","volume":"27","author":"Rogers","year":"2015","journal-title":"Psychiatr Danub."},{"key":"B34","doi-asserted-by":"publisher","first-page":"A1","DOI":"10.1530\/REP-19-0591","article-title":"Preimplantation genetic testing: Non-invasive prenatal testing for aneuploidy, copy-number variants and single-gene disorders.","volume":"160","author":"Shaw","year":"2020","journal-title":"Reproduction."},{"key":"B35","doi-asserted-by":"publisher","first-page":"112","DOI":"10.1186\/s12884-020-2763-z","article-title":"Qualitative investigation of the factors that generate ambivalent feelings in women who give birth after receiving negative results from non-invasive prenatal testing.","volume":"20","author":"Yotsumoto","year":"2020","journal-title":"BMC Pregnancy Childbirth."},{"key":"B36","doi-asserted-by":"publisher","first-page":"945","DOI":"10.1002\/jgc4.1703","article-title":"Genetic counseling for fetal sex prediction by NIPT: challenges and opportunities.","volume":"32","author":"Stevens","year":"2023","journal-title":"J Genet Couns."},{"key":"B37","doi-asserted-by":"publisher","first-page":"e0277010","DOI":"10.1371\/journal.pone.0277010","article-title":"Health professionals and scientists\u2019 views on genome-wide NIPT in the French public health system: critical analysis of the ethical issues raised by prenatal genomics.","volume":"17","author":"Perrot","year":"2022","journal-title":"PLoS One."},{"key":"B38","doi-asserted-by":"publisher","first-page":"271","DOI":"10.1007\/s11019-023-10143-1","article-title":"\u201cOverestimated technology - underestimated consequences\u201d - reflections on risks, ethical conflicts, and social disparities in the handling of non-invasive prenatal tests (NIPTs).","volume":"26","author":"Baldus","year":"2023","journal-title":"Med Health Care Philos."},{"key":"B39","first-page":"341","article-title":"Ethical dilemmas of non-invasive prenatal genetic diagnosis using cell-free fetal DNA technology: an appraisal of the first ten years since its introduction in medical practice.","volume":"33","author":"Gallo","year":"2022","journal-title":"Med Etica."},{"key":"B40","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1007\/s13669-023-00354-x","article-title":"Self-managed abortion in the United States.","volume":"12","author":"Verma","year":"2023","journal-title":"Curr Obstet Gynecol Rep."},{"key":"B41","doi-asserted-by":"publisher","first-page":"1281","DOI":"10.1002\/pd.5182","article-title":"Has noninvasive prenatal testing impacted termination of pregnancy and live birth rates of infants with down syndrome?","volume":"37","author":"Hill","year":"2017","journal-title":"Prenat Diagn."}],"container-title":["Frontiers in Medicine"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fmed.2024.1388481\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,6,13]],"date-time":"2024-06-13T04:53:56Z","timestamp":1718254436000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fmed.2024.1388481\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,6,13]]},"references-count":41,"alternative-id":["10.3389\/fmed.2024.1388481"],"URL":"https:\/\/doi.org\/10.3389\/fmed.2024.1388481","relation":{},"ISSN":["2296-858X"],"issn-type":[{"value":"2296-858X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,6,13]]},"article-number":"1388481"}}