Abstract: Objective To discussion the incidence, prenatal screening and prenatal diagnosis of birth defects of fetus in the second trimester of pregnancy. Methods From January 2009 to January 2016, 83 cases of fetus of abortion induced by birth defects whose gestational age was 14～27+6 weeks, admitted to the Department of Gynaecology & Obstetrics, PLA Army General Hospital, were included. There were 22 cases of chromosomal abnormalities. Ultrasound measurements revealed that 61 cases had fetal malformations. Amniocentesis and karyotype analysis were suggested for the women with abnormal of fetal nuchal translucency (NT) in the early pregnancy, high-risk or critical risk of serological screening in the second trimester of pregnancy, and abnormal of ultrasonographic soft markers of 20～24 gestational weeks and elderly. Prenatal non-invasive DNA testing was performed for the women who refused the inspection of amniocentesis. Statistical analysis was performed by χ2 test. Results Among the 83 cases of birth defects, 75 cases were single malformation, 8 cases were multiple malformations. The top four fetal anomalies rates were chromosomal abnormalities (26.5%, 22/83), cardiac malformations (18.1%, 15/83), neurological malformations (13.3%, 11/83) and cleft lip and palate (10.8%, 9/83). The proportion of older women of chromosome abnormality group was higher than that of other malformation group[40.9%(9/22)vs 8.2%(5/61)] , and there was statistically significant (P﹤0.05). Among the 22 cases of chromosomal abnormality, 16 cases were diagnosed by amniocentesis and 6 cases were diagnosed by ultrasound. 61 cases of system abnormalities were all diagnosed by ultrasound of first and second trimester of pregnancy. Conclusions Among the fetus of birth defects detected during the second trimester of pregnancy, chromosomal abnormalities, cardiac malformations, neurological malformations and cleft lip and palate are more common. Prenatal screening and prenatal diagnosis should be emphasized especially for the older women so as to timely detect birth defects.
李旭红 尚丽新. 83例妊娠中期胎儿出生缺陷分析[J]. 发育医学电子杂志, 2017, 5(4): 244-247.
LI Xu-hong, SHANG Li-xin. Analysis of birth defects about 83 cases of fetus in the second trimester of pregnancy. Journal of Developmental Medicine(Electronic Version), 2017, 5(4): 244-247.
2017, Vol. 5 
