孕婦外周血胎兒游離DNA產(chǎn)前檢測在13-三體綜合征18-三體綜合征和唐氏綜合征診斷中的應用

Applicationof prenatal testingof peripheral blood fetal free DNAinpregnant women in thediagnosis of trisomy13-syndrome，trisomy18-syndrome，andDownsyndrome

DuLimin，GuoMengyu，LiuShuhan DepartmentofLaboratoryMedicine，ZhumadianTraditionalChineseMedicineHospital，Zhumadian463ooo，China

【Abstract】Objective To investigate the application value of peripheral blood fetal free DNA prenatal testing in pregnant women in thediagnosis of trisomy 13-syndrome，18-syndrome，and Down syndrome.Methods Ninety-eight pregnant women who underwent noninvasive prenatal tesingtesting （NIPT）atourhospital from 2022 to 2024 wereselected forthis study，and thereasons forscreening included high risk for serologic screening for high risk，borderlinecritical risk，and advanced age.Pregnant women whose fetuses were found to'have aneuploidy abnormalitiesby NIPT（noninvasive prenatal genetic testing）werefurther analyzed byamniocentesis and amniotic fluid karyotyping，and the pregnancyoutcomesof allpregnant women wereobtained bytelephone folow-up.Results Among 98 pregnant women，18 cases of fetal aneuploidy were detected，the positive rate was 18.4% ， including 10 cases of trisomy 21-syndrone，4cases of trisomy 18-syndrone，4 cases of trisomy 13-syndrone，18 cases of sex chromosomeabnormalityand 28 casesof other autosomal abnormality.Among them，25 pregnantwomenvoluntarily received prenatal diagnosis byamniotic fluid puncture.Karyotype analysis confirmedtrisomy21-syndrone（4cases）， trisomy18-syndrone（O case），trisomy13-syndrone （1 case），sex chromosomeabnormality（5 cases）and other chromosome abnormality （3 cases），and the remaining 12 cases were normal karyotype.ConclusionNIPT can screen fetal chromosomal abnormalities.

【Key Words】 Pregnant women; Trisomy 13-syndrome; Trisomy 18-syndrome;Down syndrome;Nonin-vasive prenatal testing

我國出生缺陷的發(fā)生率居高不下，高達約 5.60% 。（剩余5670字）