Correlation of sole prenatal indication to fetal chromosomal karyotype abnormality

Objective 　To analysis the clinical high risk factors for fetal chromosomal abnormalities. Methods 　Amniocentesis, chromosomal karyotype analysis and other related methods were performed on 4829 pregnant women, who presented sole indication of prenatal diagnosis such as advanced age, high risk factors and fetal ultrasound abnormalities, for analyzing the correlations of those women to the incidence of fetal chromosomal abnormalities. Results 　The detection rates of abnormal karyotype were 5.0% (57/1143), 1.7% (40/2367) and 4.3% (57/1319) in the older women group (age>35), abnormal maternal serological screening group and abnormal fetal ultrasound finding group, respectively. The detection rats of karyotype abnormality were 6.9% (23/333) in women with fetal congenital heart diseases, 8.5% (20/234) in those with abnormal amniotic fluid, 1.1% (1/89) in those with fetal ventriculomegaly, 1.1% (10/898) in those with fetal intracardiac hyperechogenicity, 5.9% (2/34) in those with fetal choroid cyst and 5.6% (1/18) in those with fetal renal pelvis broadening. Conclusion 　The pregnant women with age>35, fetal sonographic structural anomalies or two or more soft marker abnormalities should be prenatally diagnosed and doing the genetic counseling combined with the family history. DOI: 10.11855/j.issn.0577-7402.2017.02.14