Analysis of prenatal diagnosis results of amniotic fluid cell chromosome in 3495 fetuses

Objective To explore the relationship between fetal chromosomal abnormality and various prenatal diagnosis indications. Methods After obtaining informed consents, amniocentesises were implemented with the guidance of ultrasound in 3495 second trimester pregnant women at high risk(16~21+6W). Amniotic fluids were extracted and amniotic fluid exfoliated cells were cultured and harvested for chromosome karyotype analysis. The relationship between various prenatal diagnosis indications and fetal chromosomal karyotype abnormality was analyzed. Results Totally 3494 cases of amniotic fluid cell were successfully cultured and the success rate was 99.97%.A total of 120 cases of abnormal karyotypes were detected and the abnormality rate was 3.43%(120/3494), including 70 cases of chromosome number abnormalities, 31 cases of chromosome structural abnormalities and 19 cases of other abnormalities. In various prenatal diagnosis indications, 47 cases were found with abnormal karyotypes in 1498 cases of advanced birth maternal age(≥35 years),the abnormal rate was 3.14%;there were 38 cases in 1560 cases of Down's high-risk, the rate was 2.44%;there were 30 cases in 38 cases of high risk in non-invasive fetal trisomy test, the rate was 78.95%. Compared with the advanced birth maternal age and Down's high-risk, the rate of abnormal karyotypes in high risk in non-invasive fetal trisomy test was of significant difference(P0.05). Conclusion The combination of various prenatal diagnosis indications for amniocentesis and amniotic fluid cell chromosome karyotype analysis in high-risk pregnant women can effectively improve the detection rate of fetal chromosomal disease and reduce the incidence of birth defects.