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

Ying-Chung Chen; Wan-Ju Wu; Shun-Ping Chang; Gwo-Chin Ma; Ming Chen

doi:10.1016/j.tjog.2019.11.027

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

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

Authors

Ying-Chung Chen¹, Wan-Ju Wu¹, Shun-Ping Chang², Gwo-Chin Ma³, Ming Chen⁴

Affiliations

¹ Department of Obstetrics and Gynecology, Changhua Christian Hospital, Changhua, Taiwan; Department of Genomic Medicine and Center for Medical Genetics, Changhua Christian Hospital, Changhua, Taiwan.
² 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.
³ 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; Department of Medical Laboratory Science and Biotechnology, Central Taiwan University of Science and Technology, Taichung, Taiwan.
⁴ 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 Science and Technology, Changhua Christian Hospital Healthcare System, Changhua Christian Hospital, Changhua, Taiwan; Department of Obstetrics and Gynecology, College of Medicine, National Taiwan University, Taipei, Taiwan; Department of Medical Research, Changhua Christian Hospital, Changhua, Taiwan; Department of Molecular Biotechnology, Da-Yeh University, Changhua, Taiwan. Electronic address: mingchenmd@gmail.com.

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

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.

Keywords: Down syndrome; Genetics; Monosomy; Prenatal diagnosis; Single umbilical artery.

Publication types

Case Reports

MeSH terms

Adult
Agenesis of Corpus Callosum / diagnosis*
Agenesis of Corpus Callosum / embryology
Agenesis of Corpus Callosum / genetics
Chromosomes, Human, Pair 21 / genetics
Comparative Genomic Hybridization
Female
Fetal Growth Retardation / diagnosis*
Fetal Growth Retardation / genetics
Humans
In Situ Hybridization, Fluorescence
Monosomy / diagnosis*
Monosomy / genetics
Pregnancy
Prenatal Diagnosis / methods*

Supplementary concepts

Chromosome 21 monosomy