背景:流产和胎儿死亡在全前脑畸形的胎儿中很常见,所以基因检查通常必须在验尸环境中进行。在这些情况下使用培养的成纤维细胞进行常规核型分析的效率由于频繁的培养失败而受到限制。在目前的研究中,全前脑的存档病例,要求进行验尸基因评估并且有足够的冷冻材料,使用定量荧光聚合酶链反应(QF-PCR)技术进行重新评估。
方法:测试染色体13、15、16、18、21、22、X、用QF-PCR技术对7例全前脑畸形的存档冷冻绒毛中分离的DNA进行了Y检测。
结果:QF-PCR在所有7例病例中均成功。两例13三体,两例三倍体,发现一例18三体综合征,意味着71%的诊断率。QF-PCR的成功率(100%,7/7)优于常规核型分析(43%,3/7)。
结论:使用QF-PCR技术进行快速非整倍体检测是一种简单的,可靠,具有时间和成本效益的方法足以在死后的大多数全前脑病例中完成病因调查。
BACKGROUND: Abortion and fetal death are common in fetuses with holoprosencephaly, so genetic examinations often have to be made in a post-mortem setting. The efficiency of the conventional karyotyping using cultured fibroblasts in these situations is limited due to frequent culture failure. In the current study, archived cases of holoprosencephaly, where post-mortem genetic evaluation was requested and sufficient frozen material was available, were reevaluated using the quantitative fluorescence polymerase chain reaction (QF-PCR) technique.
METHODS: Testing for aneuploidies of chromosomes 13, 15, 16, 18, 21, 22, X, and Y with the QF-PCR technique was carried out on DNA isolated from archived frozen chorionic villi in seven cases of holoprosencephaly.
RESULTS: QF-PCR was successful in all seven cases. Two cases of trisomy 13, two cases of triploidy, and one case of trisomy 18 was found meaning a 71% diagnostic yield. The success rate of QF-PCR (100%, 7/7) was superior compared to conventional karyotyping (43%, 3/7).
CONCLUSIONS: Rapid aneuploidy testing using the QF-PCR technique is a simple, reliable, time- and cost-effective method sufficient to conclude the etiologic investigation in the majority of holoprosencephaly cases post-mortem.