Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center affiliated to Guangzhou Medical University, Guangzhou, Guangdong, China.
Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center affiliated to Guangzhou Medical University, Guangzhou, Guangdong, China.
Eur J Obstet Gynecol Reprod Biol. 2022 Jul;274:28-32. doi: 10.1016/j.ejogrb.2022.04.025. Epub 2022 May 6.
To present the experience on prenatal diagnosis of Miller-Dieker syndrome (MDS)/PAFAH1B1-related lissencephaly to further determine fetal phenotypes of this syndrome.
This was a retrospective study of ten pregnancies with fetal MDS/PAFAH1B1-related lissencephaly identified by chromosomal microarray (CMA)/exome sequencing (ES). Clinical and laboratory data were collected and reviewed for these cases, including maternal demographics, prenatal sonographic findings, CMA or ES results and pregnancy outcomes.
Two cases were diagnosed in the first trimester because of an increased nuchal translucency. The remaining eight cases were identified at late gestation, including four in the second trimester because of fetal cardiac anomalies or ventriculomegaly, and four in the third trimester because of ventriculomegaly. CMA revealed 17p13.3 deletions in nine cases, and ES detected a de novo PAFAH1B1 missense mutation in one case.
The prenatal presentation of MDS/PAFAH1B1-related lissencephaly depended on the gestational age when the diagnosis was made. Mild ventriculomegaly was the most common prenatal sonographic sign identified in cases of MDS/PAFAH1B1-related lissencephaly. It is important that fetal MRI and invasive testing with CMA should be considered in fetuses with apparently 'isolated' mild ventriculomegaly.
介绍 Miller-Dieker 综合征（MDS）/PAFAH1B1 相关无脑回畸形的产前诊断经验，以进一步确定该综合征的胎儿表型。
这是一项通过染色体微阵列（CMA）/外显子测序（ES）对 10 例胎儿 MDS/PAFAH1B1 相关无脑回畸形进行的回顾性研究。收集并回顾了这些病例的临床和实验室数据，包括母体人口统计学资料、产前超声检查结果、CMA 或 ES 结果以及妊娠结局。
2 例因颈项透明层增厚而在孕早期被诊断为 MDS。其余 8 例在孕晚期被诊断，包括 4 例因胎儿心脏异常或脑室扩大而在孕中期被诊断，4 例因脑室扩大而在孕晚期被诊断。9 例 CMA 显示 17p13.3 缺失，1 例 ES 检测到 PAFAH1B1 错义突变。
MDS/PAFAH1B1 相关无脑回畸形的产前表现取决于诊断时的孕龄。轻度脑室扩大是 MDS/PAFAH1B1 相关无脑回畸形最常见的产前超声征象。对于明显“孤立性”轻度脑室扩大的胎儿，应考虑进行胎儿 MRI 和 CMA 有创检查，这一点很重要。
