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Genetic etiology and pregnancy outcomes of abnormal fluid accumulation in fetus: A retrospective cohort study
Loading metrics Open Access Peer-reviewed Research Article Citation: Cai M, Lin N, Su L, Fu M, Huang H, Xu L (2025) Genetic etiology and pregnancy outcomes of abnormal fluid accumulation in fetus: A retrospective cohort study. PLoS One 20(12): e0337437.
Ultrasound Phenotype, Genetic Analysis, and Pregnancy Outcomes of Fetuses With 1p36 Deletion Syndrome
1 Introduction A deletion in chromosome 1 at position 1p36, at the end of the short arm, is referred to as 1p36 deletion syndrome or 1p36 monomer syndrome. This is the most common chromosome deletion syndrome and has an incidence of approximately 0.1% in newborns and a detection rate of approximately 1% in patients with intellectual disability (Kang et al. 2016; Valerie et al. 2015).
Pathogenic copy number variations are associated with foetal short femur length in a tertiary referral centre study
1 INTRODUCTION Foetal femur length (FL) is a primary ultrasound measure used to assess foetal growth and skeletal development during pregnancy. Short FL is a common abnormal phenotype in foetuses, which often causes anxiety in pregnant women, and ultrasonographic diagnostic criteria for short FL have not yet been standardized.
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