산전진단된 Down증후군 30례의 초음파소견과 임상적 고찰 = Prenatal Diagnosis and Sonographic Findings of Down Syndrome; Review of 30 Cases

다국어 초록 (Multilingual Abstract)

Obstetric record and prenatal ultrasound findings were reviewed in 30 fetuses which have been proved Down syndrome(trisomy21)during 7 year period. Elderly gravida above 35 years old were 15 cases among 30 cases(50%) Eleven cases(65%) among 17 were maternal serum screening positive for Down syndrome. In 11 out of 15 women below 35 years old, obtained fetal karyotyping because of abnormal ultrasound finding(73%) which reviewed nuchal translucency(5 cases) in early pregnancy. When modified Benacerraf scoring(Thickened nuchal fold 2, Major abnormality 2, Short femur 1, Short humerus 1, Pyelectasis 1, Hyperechogenic bowel 1, Choroid plexus cyst 1, Nuchal translucency 2, We added a nuchal translucency over 3 mm to our modified system) was applied in ultrasound finding, 18 case had score above 2. Sensitivity and specificity was respectively 60%, 99% by ultrasound screening for Down Syndrome using modified Benacerraf scoring above 2. In the future, it may be possible to combine sonographic scoring system, maternal age, and the triple marker serum evaluation to refine further the prediction of risk of Down syndrome.