{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,21]],"date-time":"2026-10-21T23:03:26Z","timestamp":1792623806313,"version":"4.5.0"},"reference-count":22,"publisher":"MDPI AG","issue":"11","license":[{"start":{"date-parts":[[2022,11,3]],"date-time":"2022-11-03T00:00:00Z","timestamp":1667433600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>A vanishing twin (VT) occurs in up to 30% of early diagnosed twin pregnancies and is associated with an increased risk of fetal aneuploidy. Here, we describe our experience in a large VT population of 847 patients that underwent noninvasive prenatal testing (NIPT) for common fetal trisomies over a three-year period. All patients underwent an ultrasound examination prior to NIPT. Two comparison populations were included, namely, the singleton (n = 105,560) and the viable multiple gestation pregnancy samples (n = 9691) collected over the same period. All NIPT samples in the VT population received a result, of which 14 were high-risk for trisomy 21 (1.6%), nine for trisomy 18 (1.1%), and six for trisomy 13 (0.7%). Diagnostic testing confirmed the presence of trisomy 21 in 6\/12 samples, giving a positive predictive value of 50%. One trisomy 18 case and no trisomy 13 cases were confirmed. The time between fetal demise and NIPT sampling did not appear to affect the number of true- or false-positive cases. In conclusion, NIPT is an effective screening method for trisomy 21 in the surviving fetus(es) in VT pregnancies. For trisomies 18 and 13, a positive NIPT should be interpreted carefully and ultrasound monitoring is preferrable over invasive diagnostic testing.<\/jats:p>","DOI":"10.3390\/genes13112027","type":"journal-article","created":{"date-parts":[[2022,11,4]],"date-time":"2022-11-04T03:28:10Z","timestamp":1667532490000},"page":"2027","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Noninvasive Prenatal Screening for Trisomy 21 in Patients with a Vanishing Twin"],"prefix":"10.3390","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4008-1058","authenticated-orcid":false,"given":"Pascale","family":"Kleinfinger","sequence":"first","affiliation":[{"name":"Laboratory CERBA, 7\/11 Rue de l\u2019\u00c9querre, 95310 Saint-Ouen-l\u2019Aum\u00f4ne, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Armelle","family":"Luscan","sequence":"additional","affiliation":[{"name":"Laboratory CERBA, 7\/11 Rue de l\u2019\u00c9querre, 95310 Saint-Ouen-l\u2019Aum\u00f4ne, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L\u00e9a","family":"Descourvieres","sequence":"additional","affiliation":[{"name":"Obstetrics Center, Jeanne de Flandre Hospital, CHRU Lille, 59000 Lille, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniela","family":"Buzas","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, Ren\u00e9 Dubos Hospital, 95300 Pontoise, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3937-5040","authenticated-orcid":false,"given":"Aicha","family":"Boughalem","sequence":"additional","affiliation":[{"name":"Laboratory CERBA, 7\/11 Rue de l\u2019\u00c9querre, 95310 Saint-Ouen-l\u2019Aum\u00f4ne, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"St\u00e9phane","family":"Serero","sequence":"additional","affiliation":[{"name":"Laboratory CERBA, 7\/11 Rue de l\u2019\u00c9querre, 95310 Saint-Ouen-l\u2019Aum\u00f4ne, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Myl\u00e8ne","family":"Valduga","sequence":"additional","affiliation":[{"name":"Laboratory CERBA, 7\/11 Rue de l\u2019\u00c9querre, 95310 Saint-Ouen-l\u2019Aum\u00f4ne, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Detlef","family":"Trost","sequence":"additional","affiliation":[{"name":"Laboratory CERBA, 7\/11 Rue de l\u2019\u00c9querre, 95310 Saint-Ouen-l\u2019Aum\u00f4ne, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Marc","family":"Costa","sequence":"additional","affiliation":[{"name":"Laboratory CERBA, 7\/11 Rue de l\u2019\u00c9querre, 95310 Saint-Ouen-l\u2019Aum\u00f4ne, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4921-0047","authenticated-orcid":false,"given":"Alexandre J.","family":"Vivanti","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, DMU Sant\u00e9 des Femmes et des Nouveau-n\u00e9s, Antoine B\u00e9cl\u00e8re Hospital, AP-HP, Universit\u00e9 Paris Saclay, 92140 Clamart, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurence","family":"Lohmann","sequence":"additional","affiliation":[{"name":"Laboratory CERBA, 7\/11 Rue de l\u2019\u00c9querre, 95310 Saint-Ouen-l\u2019Aum\u00f4ne, France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,11,3]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1002\/jcu.1870040104","article-title":"Ultrasonic assessment of the high rate of human multiple pregnancy in the first trimester","volume":"4","author":"Levi","year":"1976","journal-title":"J. Clin. Ultrasound"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"1241","DOI":"10.1002\/pd.5817","article-title":"Should vanishing twin pregnancies be systematically excluded from cell-free fetal DNA testing?","volume":"41","author":"Balaguer","year":"2020","journal-title":"Prenat. Diagn."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"2821","DOI":"10.1093\/humrep\/dei142","article-title":"Consequences of vanishing twins in IVF\/ICSI pregnancies","volume":"20","author":"Pinborg","year":"2005","journal-title":"Hum. Reprod."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"256","DOI":"10.1016\/j.rbmo.2009.11.015","article-title":"Adverse obstetric outcome for the vanishing twin syndrome","volume":"20","author":"Almog","year":"2010","journal-title":"Reprod. Biomed. Online"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1067\/mob.2002.118915","article-title":"Spontaneous reduction of multiple pregnancy: Incidence and effect on outcome","volume":"186","author":"Dickey","year":"2002","journal-title":"Am. J. Obstet. Gynecol."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"2707","DOI":"10.1093\/humrep\/dem225","article-title":"Vanishing twins: A predictor of small-for-gestational age in IVF singletons","volume":"22","author":"Pinborg","year":"2007","journal-title":"Hum. Reprod."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1016\/j.fertnstert.2005.11.073","article-title":"Effect of the mode of assisted reproductive technology conception on obstetric outcomes for survivors of the vanishing twin syndrome","volume":"86","author":"Villani","year":"2006","journal-title":"Fertil. Steril."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"814","DOI":"10.1016\/j.ajog.2006.06.022","article-title":"Are in vitro fertilization pregnancies with early spontaneous reduction high risk?","volume":"195","author":"Chasen","year":"2006","journal-title":"Am. J. Obstet. Gynecol."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"1536","DOI":"10.1016\/j.fertnstert.2004.04.062","article-title":"Spontaneous embryonic loss after in vitro fertilization with and without intracytoplasmic sperm injection","volume":"82","author":"Nucera","year":"2004","journal-title":"Fertil. Steril."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"1720","DOI":"10.1093\/humrep\/deg308","article-title":"Risk of spontaneous abortion in singleton and twin pregnancies after IVF\/ICSI","volume":"18","author":"Tummers","year":"2003","journal-title":"Hum. Reprod."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1093\/humupd\/4.2.177","article-title":"The vanishing twin: A review","volume":"4","author":"Landy","year":"1998","journal-title":"Hum. Reprod. Update"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1046\/j.1469-0705.1992.02020107.x","article-title":"Vanishing twins: The frequency of spontaneous fetal reduction of a twin pregnancy","volume":"2","author":"Sampson","year":"1992","journal-title":"Ultrasound Obstet. Gynecol. Off. J. Int. Soc. Ultrasound Obstet. Gynecol."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"1399","DOI":"10.1016\/j.fertnstert.2016.07.1098","article-title":"Prevalences and pregnancy outcome of vanishing twin pregnancies achieved by in vitro fertilization versus natural conception","volume":"106","author":"Kozinszky","year":"2016","journal-title":"Fertil. Steril."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"e71","DOI":"10.1016\/j.ajog.2014.10.012","article-title":"Detection of triploid, molar, and vanishing twin pregnancies by a single-nucleotide polymorphism-based noninvasive prenatal test","volume":"212","author":"Curnow","year":"2015","journal-title":"Am. J. Obstet. Gynecol."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1002\/pd.2445","article-title":"First trimester aneuploidy screening in the presence of a vanishing twin: Implications for maternal serum markers","volume":"30","author":"Spencer","year":"2010","journal-title":"Prenat. Diagn."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"547","DOI":"10.1002\/uog.19004","article-title":"Prolonged duration of persistent cell-free fetal DNA from vanishing twin","volume":"52","author":"Niles","year":"2018","journal-title":"Ultrasound Obstet. Gynecol. Off. J. Int. Soc. Ultrasound Obstet. Gynecol."},{"key":"ref_17","doi-asserted-by":"crossref","unstructured":"American College of Obstetricians and Gynecologists (ACOG), and Society for Maternal-Fetal Medicine (SMFM) (2020). Screening for Fetal Chromosomal Abnormalities: ACOG Practice Bulletin Summary, Number 226. Obstet. Gynecol., 136, 859\u2013867.","DOI":"10.1097\/AOG.0000000000004107"},{"key":"ref_18","unstructured":"ACLF (2022, August 16). Recommandations pour le de Pistage des Anomalies Chromosomiques F\u0153tales par l\u2019ETude de l\u2019ADN Libre Circulant (ADNlc). Available online: http:\/\/www.eaclf.org\/docs\/GBP_ADNlc-V4.pdf."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"1210","DOI":"10.1093\/clinchem\/hvab067","article-title":"Performance of a Paired-End Sequencing-Based Noninvasive Prenatal Screening Test in the Detection of Genome-Wide Fetal Chromosomal Anomalies","volume":"67","author":"Pertile","year":"2021","journal-title":"Clin. Chem."},{"key":"ref_20","doi-asserted-by":"crossref","unstructured":"Kleinfinger, P., Lohmann, L., Luscan, A., Trost, D., Bidat, L., Debarge, V., Castaigne, V., Senat, M.V., Brechard, M.P., and Guilbaud, L. (2020). Strategy for Use of Genome-Wide Non-Invasive Prenatal Testing for Rare Autosomal Aneuploidies and Unbalanced Structural Chromosomal Anomalies. J. Clin. Med., 9.","DOI":"10.3390\/jcm9082466"},{"key":"ref_21","first-page":"1056","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. Off. J. Am. Coll. Med. Genet."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"226","DOI":"10.1002\/pd.5836","article-title":"Applications of noninvasive prenatal testing in vanishing twin syndrome pregnancies after treatment of assisted reproductive technology in a single center","volume":"41","author":"Zou","year":"2021","journal-title":"Prenat. Diagn."}],"container-title":["Genes"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2073-4425\/13\/11\/2027\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T01:10:05Z","timestamp":1760145005000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2073-4425\/13\/11\/2027"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,11,3]]},"references-count":22,"journal-issue":{"issue":"11","published-online":{"date-parts":[[2022,11]]}},"alternative-id":["genes13112027"],"URL":"https:\/\/doi.org\/10.3390\/genes13112027","relation":{},"ISSN":["2073-4425"],"issn-type":[{"value":"2073-4425","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,11,3]]}}}