ĐÁNH GIÁ HIỆU QUẢ CHẨN ĐOÁN TRƯỚC SINH TỪ MẪU MÁU CUỐNG RỐN THAI NHI TẠI BỆNH VIỆN PHỤ SẢN HÀ NỘI

Abstract

Use of fetal blood sampling (FBS) is becoming rare because diagnostic procedures such as amniocentesis and chorionic villus sampling, which pose a lower risk of fetal death, can be used instead for prenatal diagnosis of disease. The main advantages of this procedure are rapid karyotyping, prenatal diagnosis of hemoglobin Bart's hydrops fetalis by High Performance Liquid Chromatography (HPLC), investigation of chromosome mosaicism in amniotic fluid cell culture. A fetal blood sample may be taken to check for and treat severe fetal anemia or other blood problems such as Rh disease. Objectives: To evaluate the outcome of prenatal diagnosis by fetal blood sampling in Phu San Ha Noi hospital. Results: Analysis of 31 successful cultures showed 2 karyotype abnormalities: 47,XY,+21 and 47,XY,+der(9)9t(9;13); diagnosis of hemoglobin Bart's hydrops fetalis by HPLC in 4 case; investigation of 92,XXYY[20]/46,XY[30] mosaicism in amniotic fluid cell culture is pseudomosaic and confined placental mosaicism in 1 case. Time for chromosome analysis results within 4 days. Time for HPLC results within 1 day. Conclusion: Umbilical cord blood collection procedure is a necessary and preferred procedure in some cases such as late stage of pregnancy, cases of clinical edema with suspected thalassemia disease but parental mutations have not yet been established. know or confirm mosaic results from previous amniotic fluid/chondroplasia.