1.Department of Obstetrics and Gynecology, Wenzhou Central Hospital, Wenzhou 325000, China; 2.Center of Prenatal Diagnosis, Wenzhou Central Hospital, Wenzhou 325000, China
CHEN Yangping,XU Feng,TANG Shaohua, et al. Cytogenetic analysis of amniotic fluid on 4 943 high-risk pregnant women[J]. JOURNAL OF WEZHOU MEDICAL UNIVERSITY, 2019, 49(10): 756-759.
Abstract：Objective: To explore how different prenatal diagnostic indications are related to the frequency and type of abnormal karyotype of amniotic fluid cells in high-risk pregnant women. Methods: A retrospective analysis was made on the clinical data of 4943 cases receiving prenatal diagnosis because of various risk factors in our hospital. Results: A total of 182 cases were diagnosed as chromosomal abnormalities, with the detection rate being 3.68%. The highest abnormality rate was 90.47% in the non-invasive DNA high-risk group, and in the other 12 cases the abnormality rate was 75% after amniocentesis due to non-invasive DNA indicated sex chromosomal abnormalities. The abnormal rate was 7.61% in the ultrasound abnormal group, 3.43% in the elderly group, 3.09% in the down-screening 21-trisomy high-risk group, 2.28% in the down-screening 18-trisomy high-risk group, and 0.37% in the adverse pregnancy history group. The non-invasive DNA high-risk group had the highest chromosomal abnormality rate, followed by the ultrasound abnormality group. Conclusion: The non-invasive DNA could not completely replace the amniotic fluid cell karyotype analysis, which was considered the gold standard for detecting the fetal chromosomal abnormality. The fetal chromosomes in elderly pregnant women were prone to mutations. It is recommended that prenatal diagnosis be performed directly, and meanwhile, extra gene chips are recommended for those with ultrasound abnormalities or the elderly pregnant women.
