50% were RASopathies, and 33% were Multisystem disorders, and those cases were associated with low-set ears and micrognathia. In brain abnormalities, TES+ive rates of ventriculomegaly and malformations of cortical development (MCD) were 33.3% and 33.3%, respectively.
Conclusions:The high TES+ive rate of 32.8% in fetal ultrasonography abnormal cases was obtained in our data. Our data suggested that sonographic findings include increased NT, low-set ears, micrognathia in the first trimester scan, skeletal dysplasia, a strong suspicion of genetic ventriculomegaly, and MCD in the mid-gestation may lead to a higher TES+ive rate. More studies will be required for the more effective utilisation of NGS for prenatal diagnosis for future perspectives.
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