Prenatal Genetic and Sonographic Features of KBG Syndrome: A Cohort Study of 19 Fetal Cases
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The authors aimed to characterize the prenatal genetic and sonographic features of KBG syndrome in a cohort of 19 fetal cases to enhance prenatal diagnosis and genetic counseling. They found that common sonographic features included fetal growth restriction and increased nuchal translucency, while chromosomal microarray analysis and whole-exome sequencing revealed significant genetic variations, particularly in the ANKRD11 gene. The study highlights the importance of integrating sonographic findings with genetic testing for effective management of at-risk pregnancies.
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