Trakya University Faculty of Medicine, Department of Obstetrics and Gynecology, Division of Perinatology, Edirne, Turkey.
Trakya University Faculty of Medicine, Department of Obstetrics and Gynecology, Division of Perinatology, Edirne, Turkey.
Taiwan J Obstet Gynecol. 2021 Mar;60(2):350-354. doi: 10.1016/j.tjog.2021.01.015.
The objective of this study was to report the first case of prenatal diagnosis of the fetal 20p13 microdeletion syndrome in the literature.
The mother was 31 years old and had a first trimester serum screening that indicated the fetus was at low risk. The prenatal ultrasound at 23 weeks of gestation showed mild ventriculomegaly (10.2 mm) and absent septum pellucidum. She underwent amniocentesis because of the abnormal imaging results. Karyotype analysis revealed normal results. Chromosome microarray analysis (CMA) was then performed to provide genetic analysis of the fetus and parents. CMA detected 317.902 kb deletion of 20p13 in fetus. Finally, pregnancy was terminated at 32 weeks of gestation.
This study is the first to report the prenatal diagnosis of a 20p13 microdeletion syndrome. Our results further confirmed that genes in this region, including SOX12, NRSN2 are essential for normal fetal growth and TBC1D20 for normal brain development.
本研究旨在报道首例胎儿 20p13 微缺失综合征的产前诊断。
母亲 31 岁，孕早期血清筛查提示胎儿低风险。孕 23 周时的产前超声显示轻度脑室扩大（10.2mm）和透明隔缺失。由于异常的影像学结果，她接受了羊膜穿刺术。核型分析显示结果正常。随后进行了染色体微阵列分析（CMA），以提供胎儿和父母的遗传分析。CMA 检测到胎儿存在 20p13 处 317.902kb 的缺失。最终，妊娠在孕 32 周时终止。
本研究首次报道了 20p13 微缺失综合征的产前诊断。我们的结果进一步证实，该区域的基因，包括 SOX12、NRSN2，对胎儿正常生长至关重要，TBC1D20 对正常大脑发育至关重要。
