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- Title
Fetal macrocephaly in late pregnancy: don't forget overgrowth syndromes.
- Authors
Yu, Q.‐X.; Zhen, L.; Lin, X.‐M.; Wen, Y.‐J.; Li, D.‐Z.
- Abstract
This article discusses the diagnosis of overgrowth syndromes in utero through the use of prenatal clinical exome sequencing. The study collected data from 14 cases of overgrowth syndrome diagnosed during pregnancy, and all cases had clinical features of overgrowth syndromes and underwent genetic amniocentesis. The study identified various genes associated with overgrowth syndrome, and the majority of the variants were de novo and inherited in an autosomal dominant manner. The article emphasizes the importance of accurate diagnosis in the prenatal setting for patient counseling and management.
- Subjects
PREGNANCY; SYNDROMES; PRENATAL diagnosis; AMNIOCENTESIS
- Publication
Ultrasound in Obstetrics & Gynecology, 2023, Vol 62, Issue 6, p908
- ISSN
0960-7692
- Publication type
Article
- DOI
10.1002/uog.26289