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

Autor: Coello-Cahuao E; Maternal-Fetal Medicine Department, Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona, Ps. Vall d'Hebron 119-129, 08035, Barcelona, Spain., Sánchez-Durán MÁ; Maternal-Fetal Medicine Department, Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona, Ps. Vall d'Hebron 119-129, 08035, Barcelona, Spain., Calero I; Maternal-Fetal Medicine Department, Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona, Ps. Vall d'Hebron 119-129, 08035, Barcelona, Spain., Higueras MT; Maternal-Fetal Medicine Department, Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona, Ps. Vall d'Hebron 119-129, 08035, Barcelona, Spain., García MA; Maternal-Fetal Medicine Department, Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona, Ps. Vall d'Hebron 119-129, 08035, Barcelona, Spain., Rodó C; Maternal-Fetal Medicine Department, Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona, Ps. Vall d'Hebron 119-129, 08035, Barcelona, Spain., Maiz N; Maternal-Fetal Medicine Department, Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona, Ps. Vall d'Hebron 119-129, 08035, Barcelona, Spain. nmaiz@vhebron.net., Plaja Rustein A; Molecular and Clinical Genetics Department, Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain., Castells-Sarret N; Molecular and Clinical Genetics Department, Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain., Mediano-Vizuete C; Molecular and Clinical Genetics Department, Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain., Carreras E; Maternal-Fetal Medicine Department, Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona, Ps. Vall d'Hebron 119-129, 08035, Barcelona, Spain.
Jazyk: angličtina
Zdroj: Archives of gynecology and obstetrics [Arch Gynecol Obstet] 2023 Jan; Vol. 307 (1), pp. 285-292. Date of Electronic Publication: 2022 Apr 29.
DOI: 10.1007/s00404-022-06564-7
Abstrakt: 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.
(© 2022. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)
Databáze: MEDLINE
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