Monochorionic dizygotic twins with discordant genetic findings and congenital malformations.

IF 0.6 4区医学 Q4 GENETICS & HEREDITY

Clinical Dysmorphology Pub Date : 2026-07-20 DOI:10.1097/MCD.0000000000000575

Caiqun Luo, Xiaoxia Wu, Yang Liu, Qing Feng, Liyuan Chen, Hui Wang

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引用次数: 0

Abstract

Objective: To describe prenatal evaluation and postnatal outcome of monochorionic diamniotic twins with discordant anomalies and genetic findings after intracytoplasmic sperm injection and double-embryo transfer.

Methods: A 36-year-old gravida 3 para 0 woman conceived after transfer of two blastocysts. Ultrasound identified monochorionic diamniotic twins and a liver-containing omphalocele in fetus B. Both sacs underwent separate amniocentesis. Testing included karyotyping, chromosome microarray, Beckwith-Wiedemann syndrome analysis, trio whole-exome sequencing, short tandem repeat analysis, postnatal peripheral blood fluorescence in situ hybridization, and placental histopathology.

Results: Fetus A had mosaic 45,X[9]/46,XY[91]; fetus B had a 46,XY karyotype. Other prenatal genetic tests were unremarkable. Discordance at 11 of 21 short tandem repeat loci supported dizygosity. Following prelabor rupture of membranes at 34 + 5 weeks, two male infants were delivered by cesarean section. Twin A had hypospadias and bilateral cryptorchidism; twin B had giant omphalocele requiring surgical repair. Postnatal fluorescence in situ hybridization detected no sex-chromosome mosaicism. Placental histopathology confirmed monochorionicity.

Conclusion: Monochorionicity does not exclude dizygosity after assisted reproduction. Separate sampling of both sacs may inform discordant cases, and prenatal-postnatal discrepancies in 45,X/46,XY mosaicism warrant cautious longitudinal interpretation.

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单绒毛膜异卵双胞胎有不一致的遗传发现和先天性畸形。

目的：描述单绒毛膜双羊膜双胞胎在卵胞浆内单精子注射和双胚胎移植后出现不一致异常和遗传结果的产前评估和产后结局。方法：一名36岁的孕妇在移植两个囊胚后怀孕。超声发现单绒毛膜双羊膜双胞胎和胎儿b含肝脐膨出。两个囊分别进行羊膜穿刺术。检测包括核型、染色体微阵列、beckwithwiedemann综合征分析、三联全外显子组测序、短串联重复序列分析、出生后外周血荧光原位杂交和胎盘组织病理学。结果：胎儿A嵌合45，X[9]/46,XY[91]；胎儿B的核型为46xy。其他产前基因检测结果也不明显。21个短串联重复位点中有11个不一致支持异合性。在34 + 5周发生胎膜破裂后，两名男婴通过剖宫产分娩。双胞胎A有尿道下裂和双侧隐睾；双胞胎B有巨大的脐膨出需要手术修复。出生后荧光原位杂交未检测到性染色体嵌合体。胎盘组织病理学证实为单绒毛膜。结论：辅助生殖后单绒毛膜性不排除异卵性。两个囊的单独采样可能会发现不一致的病例，并且45、X/46、XY嵌合的产前-产后差异需要谨慎的纵向解释。

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

Clinical Dysmorphology 医学-遗传学

CiteScore

1.20

自引率

0.00%

发文量

审稿时长

6-12 weeks

期刊介绍： Clinical Dysmorphology publishes succinct case reports on the etiology, clinical delineation, genetic mapping, and molecular embryology of birth defects. This journal covers such topics as multiple congenital anomaly syndromes - with particular emphasis on previously undescribed conditions, rare findings, ethnic differences in existing syndromes, fetal abnormalities, and cytogenetic aberrations that might give clues to the localization of developmental genes. Regular features include original, peer-reviewed articles, conference reports, book and software reviews, abstracts and summaries from the UK Dysmorphology Club, and literature summaries. Submitted articles undergo a preliminary review by the editor. Some articles may be returned to authors wihtout further consideration. Those being considered for publication will undergo further assessment and peer-review by the editors and those invited to do so from a reviewer pool.