ABSTRACT
Objective To investigate the value of serological screening combined with fetal aneuploidy prenatal noninvasive DNA test ( NIPT) in prenatal diagnosis ,and provide guidance for reducing the birth of children with genetic defects in the future .Methods A retrospective analysis was conducted in 15282 pregnant women with prenatal counseling who performed serological screening and NIPT test .The high risk and critical TANG recommended NIPT test and severe abnormal karyotype children recommend termination of pregnancy .Results Down syndrome screening results showed that 804 cases of 15,282 cases of serological screening samples were detected in high risk , the high risk rate was 5.26％.A total of 804 patients with high risk of Don screen were further tested with noninvasive DNA,which was positive in 10 cases.Among them,8 cases were confirmed by amniocentesis ,including 5 cases of trisomy 21,1 case of trisomy 18 and 2 cases of sex chromosome abnormality (45,XO in one case and 47,XYY in one case),the consistency was 100.00％.Conclusion Noninvasive gene detection of fetal aneuploidy has the advantages of noninvasive ,safe and accurate .It has a wide range of clinical value in the diagnosis of fetal chromosomal abnormalities .