Coello-Cahuao Edgar, Sánchez-Durán María Ángeles, Calero Inés, Higueras María Teresa, García Mayte Avilés, Rodó Carlota, Maiz Nerea, Plaja Rustein Alberto, Castells-Sarret Neus, Mediano-Vizuete Carmen, Carreras Elena
Maternal-Fetal Medicine Department, Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona, Ps. Vall d'Hebron 119-129, 08035, Barcelona, Spain.
Molecular and Clinical Genetics Department, Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain.
Arch Gynecol Obstet. 2023 Jan;307(1):285-292. doi: 10.1007/s00404-022-06564-7. Epub 2022 Apr 29.
To evaluate the performance of chromosomal microarray analysis (CMA) in fetuses with nuchal translucency (NT) > 95th percentile. Secondary objectives were to analyze these results according to NT thickness, below or above 3.5 mm, and those without associated anomalies.
This observational single-cohort study was conducted between 2015 and 2018 in fetuses with NT > 95th percentile. Following an invasive test, quantitative fluorescence-polymerase chain reaction (QF-PCR) was performed, and if normal, CMA was performed. Pathogenic copy number variants (CNVs), non-reported pathogenic CNV, pathogenic autosomal recessive variants and variants of unknown significance (VUS) were analysed.
One-hundred and sixty-two fetuses with NT > 95th percentile, normal QF-PCR and CMA were included. Amongst 128 fetuses with NT between the 95th percentile and 3.5 mm, one (0.8%) had a pathogenic CNV, four (3.1%) had non-reported pathogenic CNV, one (0.8%) had pathogenic autosomal recessive variant and 13 (10.2%) had VUS. Amongst 34 fetuses with NT ≥ 3.5 mm, four (11.8%) had pathogenic CNV, one (2.9%) had non-reported pathogenic CNV, one (2.9%) had pathogenic autosomal recessive variant and four (11.8%) had VUS. Four in 162 (2.5%) fetuses had CNVs at the chromosome 16p13.11 region. Amongst 154 fetuses without structural abnormalities and normal QF-PCR, three (1.9%) had a pathogenic CNV, 5 (3.2%) had non-reported pathogenic CNV, one (0.6%) autosomal recessive pathogenic CNV and 16 (10.4%) had VUS.
Pathogenic CNVs were found in 1% of fetuses with an NT thickness between the 95 percentile and 3.5 mm and in 12% of fetuses with NT ≥ 3.5 mm. CNVs were found at the 16p13.11 region in 2.5% of cases.
评估染色体微阵列分析（CMA）在颈部透明带（NT）厚度大于第95百分位数的胎儿中的性能。次要目标是根据NT厚度（低于或高于3.5毫米）以及无相关异常情况来分析这些结果。
这项观察性单队列研究于2015年至2018年在NT厚度大于第95百分位数的胎儿中进行。在进行侵入性检测后，进行定量荧光聚合酶链反应（QF-PCR），如果结果正常，则进行CMA。分析致病性拷贝数变异（CNV）、未报告的致病性CNV、致病性常染色体隐性变异和意义未明的变异（VUS）。
纳入了162例NT厚度大于第95百分位数、QF-PCR和CMA结果正常的胎儿。在128例NT厚度在第95百分位数至3.5毫米之间的胎儿中，1例（0.8%）有致病性CNV，4例（3.1%）有未报告的致病性CNV，1例（0.8%）有致病性常染色体隐性变异，13例（10.2%）有VUS。在34例NT厚度≥3.5毫米的胎儿中，4例（11.8%）有致病性CNV，1例（2.9%）有未报告的致病性CNV，1例（2.9%）有致病性常染色体隐性变异，4例（11.8%）有VUS。162例胎儿中有4例（2.5%）在染色体16p13.11区域存在CNV。在154例无结构异常且QF-PCR结果正常的胎儿中，3例（1.9%）有致病性CNV，5例（3.2%）有未报告的致病性CNV，1例（0.6%）有常染色体隐性致病性CNV，16例（10.4%）有VUS。
在NT厚度在第95百分位数至3.5毫米之间的胎儿中，1%发现有致病性CNV；在NT厚度≥3.5毫米的胎儿中，12%发现有致病性CNV。2.5%的病例在16p13.11区域发现有CNV。
