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[孤立性颈项透明层增厚的管理:产前诊断多学科中心调查]

[Management of isolated increased nuchal translucency: survey among the Pluridisciplinary Centers for Prenatal Diagnosis].

作者信息

De Vriendt Manon, Rooryck Caroline, Coatleven Frédéric, Sarrau Marie, Vincienne Marie, Prier Perrine, Naudion Sophie, Sentilhes Loïc, Bouchghoul Hanane

机构信息

Service de gynécologie obstétrique, CHU de Bordeaux, Bordeaux, France.

Service de génétique médicale, CHU de Bordeaux, Bordeaux, France.

出版信息

Gynecol Obstet Fertil Senol. 2023 Jul-Aug;51(7-8):367-371. doi: 10.1016/j.gofs.2023.03.007. Epub 2023 Mar 20.

Abstract

OBJECTIVES

The management for isolated increased nuchal translucency (NT) in the first trimester with a normal karyotype and normal Chromosomal Microarray Analysis (CMA) is not consensual. The aim was to perform a survey among the Pluridisciplinary Centers for Prenatal Diagnosis (CPDPN) in France regarding their management of increased NT in the first trimester.

METHODS

We conducted a multicenter descriptive survey between September 2021 and October 2021 among the 46 CPDPNs of France.

RESULTS

The response rate was 56.5% (n = 26/46). The NT thickness threshold for which invasive diagnosis testing is performed is 3.0mm in 23.1% of centers (n = 6/26) and 3.5mm in 76.9% of centers (n = 20/26). A CMA was performed alone in 26.9% of centers (n = 7/26) while 7.7% of centers (n = 2/26) did not perform a CMA. The gestational age for the first reference ultrasound scan was 16 to 18 WG in 88.5% of centers (n = 23/26), while it was not performed before 22 WG in 11.5% of centers (n = 3/26). Fetal echocardiography is proposed systematically in 73.1% of centers (n = 19/26).

CONCLUSION

There is heterogeneity in the management of increased NT in the first trimester among the CPDPNs in France. In case of increased NT on first trimester ultrasound scan, the NT thickness threshold for which invasive diagnosis testing is performed varies from 3.0 mm or 3.5mm depending on the center. Moreover, CMA and early reference morphological ultrasound scan between 16 and 18 WG were not systematically performed, despite the current data suggesting their interest.

摘要

目的

对于孕早期孤立性颈项透明层(NT)增厚且核型正常、染色体微阵列分析(CMA)正常的情况,其管理方法尚无共识。本研究旨在对法国多学科产前诊断中心(CPDPN)就其对孕早期NT增厚的管理方法开展一项调查。

方法

2021年9月至2021年10月期间,我们对法国46家CPDPN进行了一项多中心描述性调查。

结果

回复率为56.5%(n = 26/46)。23.1%的中心(n = 6/26)进行侵入性诊断检测的NT厚度阈值为3.0mm,76.9%的中心(n = 20/26)为3.5mm。26.9% 的中心(n = 7/26)单独进行了CMA,而7.7% 的中心(n = 2/26)未进行CMA。88.5% 的中心(n = 23/26)首次参考超声扫描的孕周为16至18周,11.5% 的中心(n = 3/26)在22周之前未进行该扫描。73.1% 的中心(n = 19/26)系统地建议进行胎儿超声心动图检查。

结论

法国CPDPN对孕早期NT增厚的管理存在异质性。对于孕早期超声扫描发现NT增厚的情况,进行侵入性诊断检测的NT厚度阈值因中心而异,为3.0mm或3.5mm。此外,尽管目前的数据表明CMA以及16至18周的早期参考形态学超声扫描有意义,但并未系统地进行。

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