Analysis of balanced translocation at amniocentesis on prenatal diagnosis
10.3969/j.issn.1006-5725.2015.23.028
- VernacularTitle:羊水染色体平衡易位在产前诊断中的分析
- Author:
Xiaojin LUO
;
Liang HU
;
Jian RAN
;
Fengxiang WEI
- Publication Type:Journal Article
- Keywords:
Prenatal Diagnosis;
Chromosome;
Karyotyping;
Balanced Traslocation
- From:
The Journal of Practical Medicine
2015;31(23):3904-3906
- CountryChina
- Language:Chinese
-
Abstract:
Objective To explore the prenatal indications and pregnant outcome of balanced transloca-tion at amniocentesis, so as to provide scientific guidelines of prenatal diagnosis for local pregnant women. Methods Retrospective review was made on 76 cases of balanced translocation at amniocentesis from 2011 to 2015 at our hospital. Results In 76 cases, 38 cases were aged pregnancy prenatally, 20 cases carriers, 9 cas-es abnormal serum screening , 5 cases with previous abnormal births , 2 cases with abnormal ultrasound findings and 2 cases with other problems. Conclusion Balanced translocation concomitant aneuploidy , de novo X-auto-some translocation or de novo complex chromosome rearrangements can cause fetal abnormalities on prenatal di-agnosis. The results of ultrasound, FISH and array-CGH could provide for de novo simple translocation at amnio-centesis.
