Array study in fetuses with nuchal translucency above the 95th percentile: a 4-year observational single-centre study

• Published in: Archives of gynecology and obstetrics 2023-01, Vol.307 (1), p.285-292
• Main Authors: 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
• Format: Article
• Language: English
• Subjects: Amniotic fluid; Chromosome Aberrations; Chromosomes; Cohort analysis; Cohort Studies; Endocrinology; Female; Fetus - diagnostic imaging; Fetuses; Genetic testing; Gynecology; Human Genetics; Humans; Hybridization; Maternal-Fetal Medicine; Medicine; Medicine & Public Health; Nuchal Translucency Measurement - methods; Obstetrics; Obstetrics/Perinatology/Midwifery; Performance evaluation; Polymerase chain reaction; Pregnancy; Prenatal Diagnosis - methods; Ultrasonic imaging
• ISSN: 1432-0711; 0932-0067; 1432-0711
• DOI: 10.1007/s00404-022-06564-7

Purpose 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. Methods 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. Results 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. Conclusion Pathogenic CNVs were found in 1% of fetuses with an NT thickness between the 95 th 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.