目的:在正常核型和正常染色体微阵列分析(CMA)的早期妊娠中,对孤立性增加的颈项透明(NT)的处理不是一致的。目的是在法国产前诊断多学科中心(CPDPN)中进行一项调查,以了解他们在妊娠早期对NT增加的管理。
方法:我们在2021年9月至2021年10月期间对法国的46个CPDPN进行了多中心描述性调查。
结果:有效率为56.5%(n=26/46)。进行侵入性诊断测试的NT厚度阈值在23.1%的中心为3.0mm(n=6/26),在76.9%的中心为3.5mm(n=20/26)。在26.9%的中心(n=7/26)中单独进行CMA,而7.7%的中心(n=2/26)未进行CMA。在88.5%的中心(n=23/26)中,首次参考超声扫描的胎龄为16至18WG,而在11.5%的中心(n=3/26)中,在22个WG之前没有进行。在73.1%的中心(n=19/26)中,系统地提出了胎儿超声心动图检查。
结论:在法国的CPDPN中,妊娠早期NT增加的管理存在异质性。在妊娠早期超声扫描NT增加的情况下,根据中心的不同,进行侵入性诊断测试的NT厚度阈值从3.0mm或3.5mm不等。此外,没有系统地进行16和18WG之间的CMA和早期参考形态超声扫描,尽管目前的数据,表明他们的兴趣。
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.
We conducted a multicenter descriptive survey between September 2021 and October 2021 among the 46 CPDPNs of France.
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).
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.