Exploration of the process of prenatal screening and diagnosis for women with advanced maternal age based on results of 351 cases of fetal chromosomal abnormalities / 中华医学遗传学杂志

ABSTRACT

OBJECTIVE@#To explore the suitable process for prenatal screening and diagnosis for women with advanced maternal age.@*METHODS@#From January 2014 to November 2017, the indications and distributions of prenatal diagnosis for women with advanced maternal age only or accompanying with positive maternal serum test screening and non-invasive prenatal testing (NIPT), abnormal fetal ultrasound, one harboring chromosomal abnormalities or anomalous reproductive history were analyzed. The rate of fetal chromosomal abnormalities was compared between different groups.@*RESULTS@#The 351 pregnant women with fetal chromosomal abnormalities have included 196 cases with advanced maternal age, 26 with positive maternal serum test, 96 with high-risk by NIPT, 14 with abnormal fetal ultrasound, 15 with one partner harboring chromosomal abnormalities, and 4 with anomalous reproductive history. Assuming that all pregnant women had undergone maternal serum test screening or NIPT without amniocentesis, the detection rate of fetal chromosome abnormality would be 51.0% and 69.2%, respectively. However, should these women have received both tests, the detection rate would be as high as 84.6%. Should those with one partner harboring chromosomal abnormalities undergone maternal serum test screening or NIPT without amniocentesis, the detection rate of fetal chromosomal abnormality would only be 6.7%.@*CONCLUSION@#Should pregnant women with advanced maternal age undergo both maternal serum test and NIPT, the detection rate of fetal chromosomal abnormality will be higher than those receiving only maternal serum test screening or NIPT. Couples with one partner harboring chromosomal abnormalities should undergo prenatal diagnosis by amniocentesis.