Yang Dan, Yang Xin, Lei Tingying, Fu Fang, Li Ru, Li Dongzhi, Liao Can
Institute of Birth Health and Perinatal Medicine, Guangzhou Women and Children's Medical Center Affiliated to Guangzhou Medical University, Guangzhou, Guangdong 510623, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2020 Aug 10;37(8):833-838. doi: 10.3760/cma.j.issn.1003-9406.2020.08.007.
To explore genetic etiology and prognosis for fetuses with increased nuchal translucency (NT).
A total of 815 fetuses with increased NT (≥ 3.0 mm) were included. The fetuses were grouped by NT thickness and divided into 3.0-3.4 mm, 3.5-4.4 mm, 4.5-5.4 mm, 5.5- 6.4 mm and ≥ 6.5 mm groups. Based on the presence of additional abnormalities, the samples were divided into increased NT alone group and increased NT and other anomalies group. Chromosomal microarray analysis (CMA) was applied as a first-line test to detect pathogenic copy number variations (CNVs). The outcome of the pregnancies was followed up.
One hundred seventy-eight (21.8%) fetuses were found to harbor pathogenic CNVs, which included 138 (77.5%) with chromosomal aneuploidies, 14 (7.9%) with microdeletion/microduplication syndromes, and 26 (14.6%) harboring non-syndromic pathogenic CNVs. A significant difference was found in the detection rate of pathogenic CNVs between groups with different NT thickness. The detection rate of pathogenic CNVs also significantly differed between groups with regard to other structural abnormalities or the overall adverse pregnancy outcome.
CMA can be used as a first-line test for fetuses with increased NT during early pregnancy, with the overall detection rate of pathogenic CNVs being as high as 21.8%. Our results confirmed that NT thickness is correlated with other structural abnormalities and adverse pregnancy outcome, especially for those with NT ≥ 4.5 mm. At the same time, fetuses with other structural abnormalities are at an increased risk for adverse pregnancy outcome.
探讨颈项透明层（NT）增厚胎儿的遗传病因及预后。
共纳入815例NT增厚（≥3.0 mm）的胎儿。根据NT厚度将胎儿分组，分为3.0 - 3.4 mm、3.5 - 4.4 mm、4.5 - 5.4 mm、5.5 - 6.4 mm和≥6.5 mm组。根据是否存在其他异常，将样本分为单纯NT增厚组和NT增厚合并其他异常组。采用染色体微阵列分析（CMA）作为一线检测方法，以检测致病性拷贝数变异（CNV）。对妊娠结局进行随访。
发现178例（21.8%）胎儿存在致病性CNV，其中138例（77.5%）为染色体非整倍体，14例（7.9%）为微缺失/微重复综合征，26例（14.6%）为非综合征性致病性CNV。不同NT厚度组之间致病性CNV的检测率存在显著差异。在其他结构异常或总体不良妊娠结局方面，不同组之间致病性CNV的检测率也存在显著差异。
CMA可作为孕早期NT增厚胎儿的一线检测方法，致病性CNV的总体检测率高达21.8%。我们的结果证实，NT厚度与其他结构异常及不良妊娠结局相关，尤其是NT≥4.5 mm的胎儿。同时，合并其他结构异常的胎儿发生不良妊娠结局的风险增加。
