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目的探讨羊水染色体平衡易位的产前指征分布及妊娠结局情况,为该地区的优生提供科学依据。方法对2011年2月-2015年3月在该院进行羊水染色体核型分析的76例平衡易位病例进行回顾分析。结果 76例病例的主要产前指征为高龄妊娠(38例)、夫妇易位携带者(20例)、唐氏筛查高风险(9例)、不良孕产史(5例)、B超结果异常(2例)及其他原因(2例)。17例为新发突变(14例简单易位和3例复杂重排),14例简单易位中9例选择继续妊娠,4例选择终止妊娠,1例由于涉及X-常染色体易位,B超证实存在先天畸形行终止妊娠。检出1例为易位伴随Turner综合征,1例为复杂型易位伴随缺失与重复。结论羊水染色体核型平衡易位者可由于伴随非整倍体异常、新突发X-常染色体易位及复杂易位而导致胎儿畸形。新突发简单易位需依据B超等详细结果给予准确妊娠指导。
Objective To investigate the prenatal distribution of amniotic fluid chromosome translocation and the outcome of pregnancy and provide a scientific basis for eugenics in this area. Methods A retrospective analysis was performed on 76 cases of balanced translocation in amniotic fluid karyotype analysis from February 2011 to March 2015 in this hospital. Results The main prenatal indications of 76 cases were advanced pregnancy (38 cases), couple translocation (20 cases), Down’s screening high risk (9 cases), bad pregnancy history (5 cases), B- Abnormal results (2 cases) and other causes (2 cases). Seventeen new mutations (14 simple translocations and three complicated rearrangements), 9 of 14 simple translocations chose to continue with pregnancy, 4 chose termination of pregnancy, 1 had X-autosomal translocations, and B Super confirmed the existence of congenital malformations to terminate the pregnancy. One patient was diagnosed as translocation with Turner syndrome and one patient with complex translocation accompanied by deletion and duplication. Conclusions Amniotic fluid chromosome karyotype balanced translocation may be due to aneuploidy associated with aneuploidy, new burst X-autosomal translocation and complex translocation leading to fetal malformations. The new burst of simple translocation depends on the B ultrasound and other detailed results to give accurate pregnancy guidance.