Clinical utility of chromosomal microarray analysis and whole exome sequencing in foetuses with oligohydramnios

• Published in: Annals of medicine (Helsinki) Vol. 55; no. 1; p. 2215539
• Main Authors: Shi, Xiaomei, Ding, Hongke, Li, Chen, Liu, Ling, Yu, LiHua, Zhu, Juan, Wu, Jing
• Format: Journal Article
• Language: English
• Published: England Taylor & Francis 12.12.2023; Taylor & Francis Group
• Subjects: chromosomal microarray analysis; Exome Sequencing; Female; Fetus; Humans; Microarray Analysis; oligohydramnios; Oligohydramnios - genetics; Pregnancy; Pregnancy, Childbirth & Women's Health; Prenatal Diagnosis; Retrospective Studies; whole exome sequencing; Prenatal diagnosis; oligohydramnios; whole exome sequencing; chromosomal microarray analysis

CMA has low diagnostic utility for oligohydramnios. WES offers obvious advantages for improving the detection over CMA, which improves pregnancy management, prenatal counselling and recurrence risk assessment for future pregnancies. To evaluate the clinical utility of chromosomal microarray analysis...