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21q22.1→qter 部分单体性 21 号染色体产前诊断：与宫内生长受限和胼胝体发育不良相关。

Prenatal diagnosis of partial monosomy 21q (21q22.1→qter) associated with intrauterine growth restriction and corpus callosum dysgenesis.

机构信息

Department of Obstetrics and Gynecology, Changhua Christian Hospital, Changhua, Taiwan; Department of Genomic Medicine and Center for Medical Genetics, Changhua Christian Hospital, Changhua, Taiwan.

Department of Genomic Medicine and Center for Medical Genetics, Changhua Christian Hospital, Changhua, Taiwan; Department of Genomic Science and Technology, Changhua Christian Hospital Healthcare System, Changhua Christian Hospital, Changhua, Taiwan.

出版信息

Taiwan J Obstet Gynecol. 2020 Jan;59(1):157-161. doi: 10.1016/j.tjog.2019.11.027.

DOI:10.1016/j.tjog.2019.11.027
PMID:32039787
Abstract

OBJECTIVE

A prenatal diagnosis of partial monosomy 21q(21q22.1→ qter) in fetus with intrauterine growth restriction and corpus callosum dysgenesis but escaped from the detection by cell free DNA testing was reported.

CASE REPORT

A 31-year-old, primigravida women, presented with intrauterine growth restriction and corpus callosum dysgenesis at 23 weeks of gestational age by anatomic ultrasound screening. The interphase fluorescence in situ hybridization (FISH) analysis on amniocytes revealed monosomy 21, while the cytogenetic analysis and array comparative genomic hybridization (CGH) with CytoScan gene chip ascertained a 12.35 Mb deletion at 21q22.1q22.3.

CONCLUSION

Although noninvasive prenatal testing is used extensively and can be applied to certain microdeletion diseases, the application for uncommon deletion disorders such as the present case remains limited. Prenatal examination with detailed ultra-sonography combined with different modalities of invasive prenatal testing can provide a more comprehensive information.

摘要

目的

报道了一例胎儿宫内生长受限和胼胝体发育不良，但游离 DNA 检测未能发现 21q 部分单体性（21q22.1→qter）的产前诊断。

病例报告

一名 31 岁初产妇，在 23 周妊娠时因解剖超声筛查发现胎儿宫内生长受限和胼胝体发育不良。羊水间期荧光原位杂交（FISH）分析显示单体性 21 号染色体，而细胞遗传学分析和 CytoScan 基因芯片的阵列比较基因组杂交（CGH）确定 21q22.1q22.3 处有 12.35Mb 的缺失。

结论

尽管非侵入性产前检测广泛应用，并可应用于某些微缺失疾病，但对于本病例等罕见缺失性疾病的应用仍有限制。详细的超声检查结合不同形式的侵袭性产前检测可以提供更全面的信息。

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