Caiqun Luo

Oct 19, 2024 | obgyn.onlinelibrary.wiley.com | Caiqun Luo |Yang Liu |Hui Wang |Liyuan Chen

What’s already known about this topic? ◦ Prenatal ultrasound findings commonly seen include macrocephaly and mild cerebral ventricul-omegaly in Sotos syndrome. What does this study add? ◦ We contribute an additional ultrasonographic phenotype, specifically aberrancy in brain sulcation, to aid in the prenatal diagnosis of Sotos syndrome. 1 Introduction Sotos syndrome is caused by deletions or intragenic variants in NSD1 gene located on chromosome 5 [1].

Oct 2, 2024 | onlinelibrary.wiley.com | Shenzhen Maternity |Erya Wen |Yang Liu |Caiqun Luo

1 Introduction The prevalence of central nervous system (CNS) abnormalities is 0.14%–0.16% among live births and is as high as 3%–6% among stillbirths (Onkar, Onkar, and Mitra 2014; Sun et al. 2015; Huang et al. 2012). Causes of foetal CNS abnormalities vary. In addition to environmental factors, CNS abnormalities in foetuses are frequently associated with chromosomal aneuploidy, copy number variants (CNVs) and pathogenic sequence variants in developmental genes.