Advocating a specific risk calculation of trisomy 18 in case of low maternal serum markers during screening for fetal Down syndrome

被引：0

作者：

Gernez, Emeline ^{[1
]}

Sault, Corinne ^{[2
]}

Chatron, Nicolas ^{[3
]}

Beaumont, Marion ^{[4
]}

Roland, Estelle ^{[1
]}

Renom, Gilles ^{[1
]}

机构：

[1] CHU Lille, Ctr Biol Pathol & Genet, Lab Depistage Perinatal, CS 70002, F-59037 Lille, France

[2] Lab Eurofins Biomnis, 17-19 Ave Tony Garnier,BP 7322, F-69357 Lyon 07, France

[3] Hosp Civils Lyon, Lab Cytogenet, F-69677 Bron, France

[4] Lab Eylau Unilabs, 79 rue Martre, F-92110 Clichy, France

来源：

JOURNAL OF GYNECOLOGY OBSTETRICS AND HUMAN REPRODUCTION | 2025年 / 54卷 / 03期

关键词：

Prenatal screening; Trisomy; 18; risk; 21; Decreased serum markers; NIPT;

D O I：

10.1016/j.jogoh.2025.102915

中图分类号：

R71 [妇产科学];

学科分类号：

100211 ;

摘要：

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.

引用

页数：4

共 13 条

[1] [Anonymous], 2018, J Off Repub Fr
[2] Preimplantation genetic diagnosis: State of the art
Basille, Claire
Frydman, Rene
El Aly, Abdelwahab
Hesters, Laetitia
Fanchin, Renato
Tachdjian, Gerard
Steffann, Julie
LeLorc'h, Marc
Achour-Frydman, Nelly
[J]. EUROPEAN JOURNAL OF OBSTETRICS & GYNECOLOGY AND REPRODUCTIVE BIOLOGY, 2009, 145 (01) : 9 - 13
[3] Antenatal screening for Down's syndrome, trisomy 18, and trisomy 13: Reporting a single screening result for all three
Bestwick, Jonathan P.
Wald, Nicholas J.
[J]. JOURNAL OF MEDICAL SCREENING, 2015, 22 (02) : 100 - 105
[4] Dupont J.M., Recommandations pour le depistage des anomalies chromosomiques foetales par l'etude de l'ADN libre circulant (ADNlc)
[5] HAS, Examens bases sur l'ADN libre circulant realises dans le cadre du depistage de la trisomie 21: opportunites du reperage d'autres anomalies chromosomiques
[6] Maternal serum screening for fetal trisomy 18: Benefits of patient-specific risk protocol
Hogge, WA
Fraer, L
Melegari, T
[J]. AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY, 2001, 185 (02) : 289 - 291
[7] An audit of the detection of trisomy 18 in prenatal screening for Down syndrome using the Combined test
Huttly, Wayne J.
Wald, Nicholas J.
[J]. PRENATAL DIAGNOSIS, 2011, 31 (13) : 1317 - 1317
[8] Down syndrome maternal serum screening: Results' comments recommended by the accredited biologists
Muller, F.
Dreux, S.
Czerkiewicz, I.
Bernard, M.
Guibourdenche, J.
Lacroix, I.
Moineau, M. -P.
Read, M. -H.
Sault, C.
Thibaud, D.
Veyrat, B.
Bidat, L.
[J]. JOURNAL DE GYNECOLOGIE OBSTETRIQUE ET BIOLOGIE DE LA REPRODUCTION, 2014, 43 (09): : 671 - 679
[9] Second trimester two-step trisomy 18 screening using maternal serum markers
Muller, F
Sault, C
Lemay, C
Roussel-Mizon, N
Forestier, F
Frendo, JL
[J]. PRENATAL DIAGNOSIS, 2002, 22 (07) : 605 - 608
[10] Screening for fetal aneuploidies at 11 to 13 weeks
Nicolaides, Kypros H.
[J]. PRENATAL DIAGNOSIS, 2011, 31 (01) : 7 - 15

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