Abstract: 【Abstract】 Objective To explore the prenatal diagnosis, genetic counseling and pregnancy outcomes of patients with chromosome 8 abnormality detected by non-invasive prenatal testing (NIPT). Method From April 1, 2016 to October 31, 2022, among the pregnant women who underwent NIPT in Peking Union Medical College Hospital, 16 cases underwent prenatal diagnosis for chromosome 8 abnormality. All the 16cases underwent amniocentesis for prenatal chromosomal karyotyping and chromosomal microarray analysis(CMA). Fluorescence in situ hybridization (FISH) of uncultured cells on chromosome 8 was completed in some cases. Clinical data, prenatal genetic diagnosis results, and pregnancy outcomes were analyzed retrospectively. Result ① 13 cases without other chromosomal abnormality were considered as isolated NIPT chromosome 8 abnormality group (isolated group). One case was diagnosed as trisomy 8 mosaicism,and the pregnant woman decided to continue the pregnancy after counseling. No abnormality was found inprenatal ultrasound examination and postnatal neonatal follow-up. The other 12 cases were normal in theprenatal genetic testing and continued the pregnancy except three cases lost follow-up. No abnormality was found in neonates during follow-up. ② Three cases with other chromosomal abnormalities were considered asnon-isolated NIPT chromosome 8 abnormality group (non-isolated group). One case was diagnosed as trisomy16 mosaicism with fetal heart abnormality by ultrasound, and the pregnancy was terminated. The other twocases were normal in the prenatal genetic testing. One pregnant woman was diagnosed as left breast cancer at29 gestational weeks of pregnancy, who terminated the pregnancy via cesarean section, and no abnormalitywas found in the newborn during follow-up. One case lost follow-up. Conclusion Further prenatal diagnosis should be performed in cases with chromosome 8 abnormality detected by NIPT. The recommended genetic testing regimen includes chromosomal karyotyping, CMA and FISH analysis of uncultured cells. For cases diagnosed as trisomy 8 mosaicism, detailed genetic counseling should be performed. If no abnormality is detected by ultrasound, the prognosis of the fetus would be good in general, and the pregnancy could be considered to continue.
2023, Vol. 11 
