Prenatal diagnosis of 9q34.3 microdeletion-associated Kleefstra syndrome in a pregnancy complicated by polyhydramnios: A case report and literature review

IF 2 4区医学 Q2 OBSTETRICS & GYNECOLOGY

Taiwanese Journal of Obstetrics & Gynecology Pub Date : 2024-10-29 DOI:10.1016/j.tjog.2024.06.013

Yi-Yun Tai , Chih-Ling Chen , Chen-Tu Wu , Chien-Nan Lee , Shin-Yu Lin

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引用次数: 0

Abstract

Objective

Kleefstra Syndrome (KS) is a rare genetic disorder caused by a deletion at 9q34.3. Studies showed that various heart defects are observed in 41–43% of patients and abnormal features on brain imaging in 58–63%. To date, the prenatal phenotype in KS has yet to be defined.

Case report

We present the first prenatal diagnosis and chromosomal microarray analysis (CMA) of a case of 9q34.3 microdeletion in a fetus with increased amniotic fluid, supported by abnormal prenatal ultrasound findings, and confirmed via autopsy. CMA revealed a 2.1 Mb 9q34.3 microdeletion encompassing an OMIM gene of EHMT1, which is consistent with the diagnosis of Kleefstra syndrome and 9q subtelomeric deletion syndrome.

Conclusion

When a fetus with normal karyotype presents with polyhydramnios or abnormalities noted during second-trimester prenatal ultrasound screening, CMA analysis can be considered as the next step to rule out or confirm the diagnosis of chromosomal or other genetic aberrations.

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产前诊断 9q34.3 微缺失相关 Kleefstra 综合征并发多胎妊娠：病例报告和文献综述

目的克莱夫斯特拉综合征（KS）是一种罕见的遗传性疾病，由 9q34.3 缺失引起。研究显示，41%-43%的患者会出现各种心脏缺陷，58%-63%的患者会出现脑部成像异常。迄今为止，KS 的产前表型仍未确定。病例报告我们首次对一例羊水增多的 9q34.3 微缺失胎儿进行了产前诊断和染色体微阵列分析（CMA），并得到了异常产前超声检查结果的支持和尸检的证实。结论当染色体核型正常的胎儿出现多羊水或在第二胎产前超声筛查中发现异常时，可考虑进行 CMA 分析，以排除或确诊染色体或其他基因畸变。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Taiwanese Journal of Obstetrics & Gynecology OBSTETRICS & GYNECOLOGY-

CiteScore

3.60

自引率

23.80%

发文量

207

审稿时长

4-8 weeks

期刊介绍： Taiwanese Journal of Obstetrics and Gynecology is a peer-reviewed journal and open access publishing editorials, reviews, original articles, short communications, case reports, research letters, correspondence and letters to the editor in the field of obstetrics and gynecology. The aims of the journal are to: 1.Publish cutting-edge, innovative and topical research that addresses screening, diagnosis, management and care in women''s health 2.Deliver evidence-based information 3.Promote the sharing of clinical experience 4.Address women-related health promotion The journal provides comprehensive coverage of topics in obstetrics & gynecology and women''s health including maternal-fetal medicine, reproductive endocrinology/infertility, and gynecologic oncology. Taiwan Association of Obstetrics and Gynecology.