Emeline Gernez , Corinne Sault , Nicolas Chatron , Marion Beaumont , Estelle Roland , Gilles Renom
{"title":"提倡在筛查胎儿唐氏综合征时，在母体血清标记物较低的情况下，对18三体进行特定的风险计算。","authors":"Emeline Gernez , Corinne Sault , Nicolas Chatron , Marion Beaumont , Estelle Roland , Gilles Renom","doi":"10.1016/j.jogoh.2025.102915","DOIUrl":null,"url":null,"abstract":"<div><h3>Background</h3><div>In France, legislation concerning pregnancy monitoring only considers screening for Down syndrome (T21), while the contingent introduction of the circulating cell free DNA test (DPNI) also allows screening for trisomies 13 and 18 with similar performances.</div></div><div><h3>Methods</h3><div>We retrospectively studied more than 800,000 patients among whom 7971 presented serum markers suggestive of T18 (but without increased risk of T21), of which 438 benefited from NIPT and of a complete pregnancy follow-up.</div></div><div><h3>Results</h3><div>We show that the use of a specific risk calculation for T18 would have improve the relevance of the prescription.</div></div><div><h3>Conclusion</h3><div>The generalization of this calculation would allow an optimization of the management of patients presenting a suggestive biochemical profile without significantly increasing the number of NIPT prescribed.</div></div>","PeriodicalId":15871,"journal":{"name":"Journal of gynecology obstetrics and human reproduction","volume":"54 3","pages":"Article 102915"},"PeriodicalIF":1.6000,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Advocating a specific risk calculation of trisomy 18 in case of low maternal serum markers during screening for fetal Down syndrome\",\"authors\":\"Emeline Gernez , Corinne Sault , Nicolas Chatron , Marion Beaumont , Estelle Roland , Gilles Renom\",\"doi\":\"10.1016/j.jogoh.2025.102915\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><h3>Background</h3><div>In France, legislation concerning pregnancy monitoring only considers screening for Down syndrome (T21), while the contingent introduction of the circulating cell free DNA test (DPNI) also allows screening for trisomies 13 and 18 with similar performances.</div></div><div><h3>Methods</h3><div>We retrospectively studied more than 800,000 patients among whom 7971 presented serum markers suggestive of T18 (but without increased risk of T21), of which 438 benefited from NIPT and of a complete pregnancy follow-up.</div></div><div><h3>Results</h3><div>We show that the use of a specific risk calculation for T18 would have improve the relevance of the prescription.</div></div><div><h3>Conclusion</h3><div>The generalization of this calculation would allow an optimization of the management of patients presenting a suggestive biochemical profile without significantly increasing the number of NIPT prescribed.</div></div>\",\"PeriodicalId\":15871,\"journal\":{\"name\":\"Journal of gynecology obstetrics and human reproduction\",\"volume\":\"54 3\",\"pages\":\"Article 102915\"},\"PeriodicalIF\":1.6000,\"publicationDate\":\"2025-03-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of gynecology obstetrics and human reproduction\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S2468784725000121\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2025/1/20 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q3\",\"JCRName\":\"OBSTETRICS & GYNECOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of gynecology obstetrics and human reproduction","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S2468784725000121","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/1/20 0:00:00","PubModel":"Epub","JCR":"Q3","JCRName":"OBSTETRICS & GYNECOLOGY","Score":null,"Total":0}
Advocating a specific risk calculation of trisomy 18 in case of low maternal serum markers during screening for fetal Down syndrome
Background
In France, legislation concerning pregnancy monitoring only considers screening for Down syndrome (T21), while the contingent introduction of the circulating cell free DNA test (DPNI) also allows screening for trisomies 13 and 18 with similar performances.
Methods
We retrospectively studied more than 800,000 patients among whom 7971 presented serum markers suggestive of T18 (but without increased risk of T21), of which 438 benefited from NIPT and of a complete pregnancy follow-up.
Results
We show that the use of a specific risk calculation for T18 would have improve the relevance of the prescription.
Conclusion
The generalization of this calculation would allow an optimization of the management of patients presenting a suggestive biochemical profile without significantly increasing the number of NIPT prescribed.
期刊介绍：
Formerly known as Journal de Gynécologie Obstétrique et Biologie de la Reproduction, Journal of Gynecology Obstetrics and Human Reproduction is the official Academic publication of the French College of Obstetricians and Gynecologists (Collège National des Gynécologues et Obstétriciens Français / CNGOF).
J Gynecol Obstet Hum Reprod publishes monthly, in English, research papers and techniques in the fields of Gynecology, Obstetrics, Neonatology and Human Reproduction: (guest) editorials, original articles, reviews, updates, technical notes, case reports, letters to the editor and guidelines.
Original works include clinical or laboratory investigations and clinical or equipment reports. Reviews include narrative reviews, systematic reviews and meta-analyses.
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