Abstract:

Objective To evaluate the roles of non-invasive prenatal testing（NIPT） and NIPT-plus in screening fetal chromosomal abnormalities among in vitro fertilization-embryo transfer（IVF） pregnant women through peripheral blood. Methods Pregnant women undergoing NIPT and NIPT-plus at Obstetrics and Gynecology Hospital of Fudan University from May 2017 to October 2019 were enrolled and classified into 2 groups,IVF group and natural conception（control） group. Through retrospective analysis,the roles of NIPT and NIPT-plus in IVF fetal chromosomal abnormalities,including chromosome aneuploidy and copy number variation（CNV）,were evaluated. Results A total of 1 312 pregnant women were enrolled as IVF group,and the age was （32.83±4.02） years at gestational （15.59±2.16） weeks when received NIPT and NIPT-plus,with singleton pregnancy 925 cases and twin pregnancy 387 cases. The age of control group was （30.62±4.77） years at gestational （16.44±2.73） weeks when received NIPT and NIPT-plus,with singleton pregnancy 22 444 cases and twin pregnancy 587 cases. In IVF group,4 cases（3.05‰）were screened out trisomy 21（T21）,and the positive predictive value（PPV） was 100%;3 cases（2.29‰）were screened out trisomy 13（T13）;17 cases（12.96‰）were screened out sex chromosome abnormality,and the PPV was 55.56%;3 cases（2.29‰）were screened out CNV;6 cases（4.57‰）were screened out other chromosomal abnormalities,and the PPV was 33.33%. Conclusions NIPT and NIPT-plus are valuable in chromosomal aneuploidy screening in IVF group. NIPT and NIPT-plus are effective in detecting autosomal and sex chromosome trisomy. When being applied to screening out chromosomal monomer and CNV,NIPT and NIPT-plus have certain value.

Key words: Non-invasive prenatal testing, Expanded non-invasive prenatal testing, In vitro fertilization-embryo transfer, Prenatal diagnosis