Clinical value and effectiveness of sonography screening for fetal chromosomal abnormalities in the middle and late pregnancy / 中华超声影像学杂志

ABSTRACT

Objective To evaluate the clinical value and effectiveness of ultrasound screening for fetal chromosomal abnormalitie in the middle and late pregnancy. Methods Fetuses who were detected with abnormal ultrasound findings during the middle and late pregnancy, and high risk of maternal serum screening underwent amnioeentesis or eordocentesis for fetal chromosome karyotypes. Results (1) A total of 31 cases with fetal malformation diagnosed by ultrasound were analysed for fetal chromosome karyotypes, and 8 (25.8%) cases were proved with fetal abnormal chromosome karyotypes. There were 3 cases of cervical springwater cyst accompany with edema,and all were fetal abnormal chromosome karyotypes. There were 3 cases of cervical pachyderma,and 2 were fetal abnormal chromosome karyotypes. There was one case with multiple malformations, one with Dandy-Walker malformation and one with holoprosencephaly malformation,all were revealed fetal abnormal chromosome karyotypes. (2) A total of 516 cases with high risk of Down's syndrome and trisomy 18 by maternal serum screening were analysed for fetal chromosome karyotypes,and 14(2.710%) cases were proved with fetal abnormal chromosome karyotypes, which include 7 cases of Down's syndrome and 7 cases of other fetal abnormal chromosome karyotypes. (3) A total of 544 (516 + 28)cases with high risk by the combination of ultrasound and maternal serum screening were analysed for fetal chromosome karyotypes, and 21 (3.86%) cases were proved with fetal abnormal chromosome karyotypes, the rate of detection higher than only maternal serum screening 42.43%.Conclusions Fetal structure abnormalities were the effective ultrasound signs for fetus chromosomal abnormalities screening in the middle and late pregnancy. The combination of ultrasound and maternal serum screening can improve the rate of fetus chromosomal abnormalities screening and be an effective way to retrieve false-positive and lower risk of maternal serum screening.