Prenatal diagnosis of fetal diencephalic-mesencephalic junction dysplasia: a case report
10.3760/cma.j.cn113903-20230103-00004
- VernacularTitle:产前诊断胎儿间脑-中脑连接处发育不良1例
- Author:
Peiwei ZHAO
1
;
Luyi CHEN
;
Lei ZHANG
;
Xuelian HE
Author Information
1. 华中科技大学同济医学院附属武汉儿童医院（武汉市妇幼保健院）精准医学实验室，武汉 430016
- Keywords:
Diencephalon;
Mesencephalon;
Abnormalities, multiple;
Protocadherins;
Genetic variation;
Prenatal diagnosis
- From:
Chinese Journal of Perinatal Medicine
2023;26(8):684-686
- CountryChina
- Language:Chinese
-
Abstract:
We report a case of fetal diencephalic-mesencephalic junction dysplasia (DMJD) diagnosed prenatally. Prenatal ultrasound at 24 gestational weeks showed that the fetus was small, about the size at 22 weeks' gestation, with short biparietal diameter and enhanced echo at the anterior border of thalamus. Fetal MRI showed short T2 signal shadow in the left choroid plexus, and hemorrhage and midbrain dysplasia were suspected. A pathogenic homozygous mutation variant in protocadherins 12 gene (c.1558C>T) was found in this fetus by whole exome sequencing and both parents carried the same heterozygous variation revealed by Sanger sequencing. All of the above information lead to the diagnosis of fetal DMJD, and the pregnancy was terminated after genetic counseling.
