死后全脑畸形快速非整倍体检测

IF 1.6 4区 医学 Q4 DEVELOPMENTAL BIOLOGY
Lajos Gergely, Vanda Repiská, Daniel Böhmer, Miroslav Korbeľ, Zuzana Václavová, Liam McCullough, Katarína Melišová, Petra Priščáková
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引用次数: 0

摘要

背景 全脑畸形胎儿常见流产和胎儿死亡,因此往往需要在死后进行遗传学检查。在这种情况下,使用培养成纤维细胞进行传统核型分析的效率有限,因为培养经常失败。在本研究中,我们利用定量荧光聚合酶链反应(QF-PCR)技术,对要求进行死后基因评估且有足够冷冻材料的全脑畸形存档病例进行了重新评估。 方法 采用 QF-PCR 技术,对 7 例全绒毛膜促性腺激素畸形的存档冷冻绒毛中分离出的 DNA 进行 13、15、16、18、21、22、X 和 Y 染色体非整倍体检测。 结果 QF-PCR 在所有 7 个病例中都取得了成功。发现两例 13 三体综合征、两例三倍体综合征和一例 18 三体综合征,诊断率为 71%。QF-PCR 的成功率(100%,7/7)优于传统核型分析(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、可靠、省时、经济的方法,足以对大多数死后全脑畸形病例进行病因学调查。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Post-mortem rapid aneuploidy testing for holoprosencephaly

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.

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来源期刊
Birth Defects Research
Birth Defects Research Medicine-Embryology
CiteScore
3.60
自引率
9.50%
发文量
153
期刊介绍: The journal Birth Defects Research publishes original research and reviews in areas related to the etiology of adverse developmental and reproductive outcome. In particular the journal is devoted to the publication of original scientific research that contributes to the understanding of the biology of embryonic development and the prenatal causative factors and mechanisms leading to adverse pregnancy outcomes, namely structural and functional birth defects, pregnancy loss, postnatal functional defects in the human population, and to the identification of prenatal factors and biological mechanisms that reduce these risks. Adverse reproductive and developmental outcomes may have genetic, environmental, nutritional or epigenetic causes. Accordingly, the journal Birth Defects Research takes an integrated, multidisciplinary approach in its organization and publication strategy. The journal Birth Defects Research contains separate sections for clinical and molecular teratology, developmental and reproductive toxicology, and reviews in developmental biology to acknowledge and accommodate the integrative nature of research in this field. Each section has a dedicated editor who is a leader in his/her field and who has full editorial authority in his/her area.
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