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Published on: February 15, 2013
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Microarray analysis in fetuses with duodenal obstruction: It is not just trisomy 21
Wenwen Zhang1, Tingying Lei1, Fang Fu1
1Department of Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China.
Prenatal Diagnosis
|October 1, 2020
Summary
Copy number variants (CNVs) are linked to fetal duodenal obstruction (DO). Chromosomal microarray analysis (CMA) is valuable for diagnosing DO and identifying genetic causes.
Area of Science:
- Medical Genetics
- Prenatal Diagnosis
- Congenital Anomalies
Background:
- Fetal duodenal obstruction (DO) is a significant congenital anomaly.
- Understanding the genetic underpinnings of DO is crucial for accurate diagnosis and counseling.
- Copy number variants (CNVs) are increasingly recognized as a cause of congenital anomalies.
Purpose of the Study:
- To investigate the prevalence and spectrum of CNVs in fetuses diagnosed with duodenal obstruction.
- To evaluate the association of CNVs with prenatal findings and postnatal outcomes in DO cases.
- To assess the utility of chromosomal microarray analysis (CMA) as a first-tier diagnostic tool for fetal DO.
Main Methods:
- Retrospective review of 51 fetuses with diagnosed DO.
- Analysis of data from chromosomal microarray analysis (CMA) performed between January 2014 and May 2019.
- Comparison of CNV frequencies between isolated DO and DO with additional anomalies.
Main Results:
- Pathogenic chromosomal aberrations were identified in 15.7% of fetuses with DO.
- Pathogenic CNVs were found in 9.8% of cases, including deletions on chromosome 13q and duplications/microduplications on chromosomes 1q and 17q.
- No significant difference in pathogenic CNV rates was observed between isolated DO and DO with other anomalies (9.5% vs 11.1%).
- Among the 51 fetuses, 11 pregnancies were terminated, 8 had chromosomal abnormalities, 1 resulted in intrauterine death, and 39 were live births.
- Post-surgical outcomes for 31 neonates were favorable, with no reported neonatal deaths.
Conclusions:
- Chromosomal microarray analysis (CMA) is a valuable tool for identifying genetic causes of fetal duodenal obstruction.
- CNVs represent a significant genetic etiology that should be considered in the diagnostic workup of DO.
- CMA is recommended as a first-tier test for fetuses presenting with duodenal obstruction.
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