Role of prenatal serum screening and ultrasound in diagnosis of fetal chromosome abnormality

Objective To study the role of prenatal serum screening and ultrasound in diagnosis of abnormal chromosome in fetuses. Methods Serum screening data of 5 907 pregnant women with Down’s syndrome and abnormal chromosome in 40 fetuses,admitted to our hospital during the past 3 years,were retrospectively analyzed. Results Among the 5 907 pregnant women,high risk for Down’s syndrome was detected in 521（8.82%） including 82 with their age≥35 years.Of these 521 women,198 underwent amniocentesis with a success rate of 38%.Blood or amniotic fluid samples taken from 40 terata during their induction for the detection of abnormal chromosome.Abnormal chromosome was detected in 17 fetuses.Among them,trisome 21,trisome 18,trisome 13,Turner syndrome,Klinefelter syndrome,short arm deletion of chromosome 18,and inverted chromosome 9 were detected in 8,3,1,1,1,and 2 fetuses,respectively.Abnormal chromosome was found in 5 out of 8 fetuses who received serum screening.Ultrasound showed abnormal chromosome in 11 fetuses.Abnormal chromosome-related malformations mainly included multi-malformation,heart malformation,fetal edema and digestive malformation. Conclusion The success rate of serum screening and amniocentesis for pregnant women with Down’s syndrome should be improved.Ultrasound plays an important role in the diagnosis of abnormal chromosome in fetuses.