Genetic correlation between fetal nuchal translucency thickening and cystic hygroma and exploration of pregnancy outcome

• Published in: Scientific reports Vol. 14; no. 1; pp. 27191 - 10
• Main Authors: Zheng, Jianli, Wang, Tiantian, Sun, Huilin, Guan, Yongjuan, Yang, Fangfang, Wu, Jing, Ying, Feifei, Fu, Yadong, Li, Min, Liu, Jianbing
• Format: Journal Article
• Language: English
• Published: London Nature Publishing Group UK 08.11.2024; Nature Publishing Group; Nature Portfolio
• Subjects: 631/337; 692/4017; Adult; Chromosome Aberrations; Copy number; DNA Copy Number Variations; DNA microarrays; Exome Sequencing; Female; Fetus - diagnostic imaging; Fetuses; Follow-up; Genetic abnormalities; Genetic analysis; Genetic counseling; Genetic examination; Genetic screening; Humanities and Social Sciences; Humans; Karyotypes; Lymphangioma, Cystic - diagnostic imaging; Lymphangioma, Cystic - genetics; multidisciplinary; Nuchal cystic hygroma; Nuchal Translucency Measurement; Nuchal translucency thickening; Patients; Point mutation; Pregnancy; Pregnancy Outcome; Prenatal diagnosis; Prenatal Diagnosis - methods; Retrospective Studies; Science; Science (multidisciplinary); Ultrasonic imaging; Ultrasonography, Prenatal; Ultrasound; Whole genome sequencing; Genetic examination; Prenatal diagnosis; Nuchal translucency thickening; Nuchal cystic hygroma; Follow-up

Chromosome microarray analysis (CMA) and whole exome sequencing (WES) are increasingly utilized in prenatal diagnosis of abnormal ultrasound findings, but studies on correlation between pathogenic copy number variations (pCNVs) and single-gene mutations in fetuses with nuchal translucency (NT) thick...