Prenatal diagnosis of a de novo 17q25.3 microdeletion encompassing RAC3 and CSNK1D in a fetus associated with partial agenesis of the corpus callosum, small brain volume, micrognathia and total anomalous pulmonary venous return

IF 2 4区医学 Q2 OBSTETRICS & GYNECOLOGY

Taiwanese Journal of Obstetrics & Gynecology Pub Date : 2025-03-01 DOI:10.1016/j.tjog.2024.12.013

Chih-Ping Chen , Liang-Kai Wang , Fang-Tzu Wu , Yen-Ting Pan , Peih-Shan Wu , Wayseen Wang

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引用次数: 0

Abstract

Objective

We present prenatal diagnosis of a de novo 17q25.3 microdeletion in a fetus with abnormalities of the brain, heart and face.

Case report

A 32-year-old, gravida 2, para 1, woman underwent amniocentesis at 25 weeks of gestation because of fetal abnormalities of partial agenesis of the corpus callosum with absence of the splenium, small brain volume, colpocephaly and micrognathia on fetal magnetic resonance imaging (MRI) and total anomalous pulmonary venous return (TAPVR) and partial agenesis of the corpus callosum on fetal ultrasound at 23 weeks of gestation. Amniocentesis revealed a karyotype of 46,XY, and simultaneous array comparative genomic hybridization (aCGH) analysis on the DNA extracted from uncultured amniocytes showed arr [GRCh37 (hg19)] 17q25.3 (79,838,999–80,426,634) × 1.0 with a 587.64-kb 17q25.3 microdeletion encompassing 23 OMIM genes including RAC3 and CSNK1D. The parental bloods did not have such a microdeletion. The pregnancy was subsequently terminated, and a malformed fetus was delivered with facial dysmorphism of abnormal head shape, low-set ears, micrognathia, depressed nasal bridge and hypertelorism. aCGH analysis on the cord DNA confirmed the prenatal diagnosis of a 17q25.3 microdeletion.

Conclusion

A 17q25.3 microdeletion encompassing RAC3 and CSNK1D may present abnormalities of the brain, heart and face on fetal imaging.

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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.