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Prenatal diagnosis of Miller-Dieker syndrome by chromosomal microarray
Xiaomei Shi1, Weiwei Huang1, Jian Lu1
1Gentic Medical Center, Guangdong Women and Children Hospital, Guangzhou, China.
Objective:
To assess the experience on prenatal diagnosis of Miller-Dieker syndrome (MDS) to further delineate the fetal presentation of this syndrome.
Methods:
This was a retrospective study. Fetal MDS was diagnosed prenatally by chromosomal microarray (CMA). Clinical data were reviewed for these cases, including maternal characteristics, indications for prenatal diagnosis, sonographic findings, CMA results, and pregnancy outcomes.
Results:
Four cases were diagnosis as MDS by CMA. The most common sonographic features were ventriculomegaly (3/4) and polyhydramnios (2/4). Deletion sizes ranged from 1.5 to 5.4 Mb. All microdeletions were located at the MDS critical region and showed haploinsufficiency of the YWHAE, CRK, and PAFAH1B1. All patients chose to terminate the pregnancy. Parental chromosome analysis were preformed in three cases and demonstrated that two cases were de novo and one case was caused by inherited derivative chromosomes from parental balanced translocations.
Conclusion:
The most common prenatal ultrasound findings of MDS were ventriculomegaly and polyhydramnios. CMA can improve diagnostic precision for detecting MDS.
Insights
Prenatal diagnosis of Miller-Dieker syndrome (MDS) identified ventriculomegaly and polyhydramnios as common ultrasound findings. Chromosomal microarray (CMA) improved diagnostic accuracy for fetal MDS.
Area of Science:
- Genetics
- Prenatal Diagnosis
- Medical Genetics
Background:
- Miller-Dieker syndrome (MDS) is a rare genetic disorder.
- Prenatal diagnosis of MDS is crucial for genetic counseling and management.
- Fetal presentation of MDS requires further delineation.
Purpose of the Study:
- To assess the prenatal diagnostic experience of Miller-Dieker syndrome (MDS).
- To delineate the fetal presentation of MDS through prenatal diagnosis.
- To evaluate the utility of chromosomal microarray (CMA) in diagnosing fetal MDS.
Main Methods:
- Retrospective study of prenatal diagnosis cases.
- Diagnosis of fetal MDS using chromosomal microarray (CMA).
- Review of clinical data including maternal characteristics, indications for diagnosis, sonographic findings, CMA results, and pregnancy outcomes.
Main Results:
- Four cases of fetal MDS were diagnosed by CMA.
- Common sonographic features included ventriculomegaly (3/4) and polyhydramnios (2/4).
- Deletion sizes ranged from 1.5 to 5.4 Mb, affecting key MDS genes; all pregnancies were terminated. Parental chromosome analysis revealed de novo and inherited translocations.
Conclusions:
- Ventriculomegaly and polyhydramnios are the most common prenatal ultrasound findings in MDS.
- Chromosomal microarray (CMA) enhances diagnostic precision for fetal MDS detection.
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