谢成秀

摘 要：目的 探究羊水染色體核型分析在产前诊断中的重要性。方法 从2010年12月～2017年11月妊娠17～31周具有羊水穿刺指征以及自愿要求的孕妇16896例，在B超引导下穿刺抽取20 ml，对胎儿的脱落细胞进行培养，收获，制片，G显带，上机扫片并进行核型分析。结果 在16896例羊水染色体分析中，共检测出异常核型495例，检出率为2.92%，多态性1312例，检出率为7.76%；高龄孕妇6377例，异常检出率为2.47%，唐氏筛查高风险孕妇7746例，异常检出率为1.61%，18三体筛查高风险351例，异常检出率为3.13%，超声NT异常218 例，异常检出率13.76%，鼻骨缺失50 例，异常检出率4.00%，超声综合指标1168例，异常检出率6.25%，NIPT阳性141例，异常检出率58.15%，夫妻一方为染色体携带者或者异常者83例，异常检出率为34.93%，异常生育史448例，异常检出率为1.11%，不良接触史114例，异常检出率4.38%，要求羊水穿刺468例，异常检出率1.49%。结论 在产前诊断的过程中，羊水染色体核型分析依然是重要的诊断方法，由于染色体条带分辨水平有限，超声和其它分子遗传学检测可以与之互补，提高胎儿异常检出率，减少出生缺陷。

关键词：羊水穿刺；染色体异常；核型分析；产前诊断

中图分类号：R714.5 文献标识码：A DOI：10.3969/j.issn.1006-1959.2018.10.024

文章编号：1006-1959（2018）10-0080-04

Analysis of Genetic Effect of Chromosome Karyotype in Amniotic Fluid

XIE Cheng-xiu

（Prenatal Diagnosis Center，Chengdu Women and Children Center Hospital，Chengdu 610000， Sichuan，China）

Abstract：Objective To explore the importance of amniotic fluid karyotype analysis in prenatal diagnosis.Methods From December 2010 to November 2017，16896 pregnant women with amniotic fluid aspiration indication and voluntary request were selected under the guidance of B-ultrasound to culture，harvest and make G banding of fetal exfoliated cells.Scan the machine and analyze the karyotype.Results In 16896 cases of amniotic fluid chromosome analysis，495 cases of abnormal karyotype were detected，the detection rate was 2.92%，1312 cases of polymorphism of which the detection rate was 7.76%，6377 cases of elderly pregnant women，2.47% of abnormal detection rate，7746 cases of high risk pregnant women accepted Down screening and the abnormal detection rate was 1.61%.18 trisomy screening in 351 cases，and abnormal detection rate was 3.13%，ultrasonic NT abnormality in 218 cases，abnormal detection rate was 13.76 6%，nasal bone defect in 50 cases，abnormal detection rate was 4.00%，ultrasonic comprehensive index in 1168 cases，abnormal detection rate 6.25%.NIPT positive in 141 cases，the abnormal detection rate was 58.15%，there were 83 cases of chromosomal carriers or abnormality in the couples，the abnormal detection rate was 34.93%，the abnormal fertility history were 448 cases，and the abnormal detection rate was 1.11%，114 cases of bad contact history，abnormal detection rate of 4.38%，requiring amniotic fluid puncture in 468 cases，the abnormal detection rate was 1.49%.Conclusion In the process of prenatal diagnosis，amniotic fluid chromosome karyotype analysis is still an important diagnostic method.Due to the limited resolution of chromosomal bands，ultrasound and other molecular genetic tests can complement each other to improve the detection rate of fetal abnormalities and reduce birth defects.

Key words：Amniocentesis；Chromosome abnormality；Karyotype analysis；Prenatal diagnosis

大多数的染色体异常是致病的，患者多存在明显的生长发育迟缓，智力低下，生育能力异常，多系统和多器官的畸形等异常表现，目前无有效的治疗方案。因此，在胎儿出生以前尽早做出诊断，降低异常胎儿的出生率显得至关重要。本研究主要是对我院具有羊水穿刺指征以及自愿要求羊穿的孕妇16896例结果进行总体分析，为能更好的把握产前诊断指征，提高胎儿的异常检出率，现报告如下。……