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Chromosomal Microarray Analysis in Fetuses Detected with Isolated Cardiovascular Malformation: A Multicenter Study,
Gioia Mastromoro1, Nader Khaleghi Hashemian1, Daniele Guadagnolo1
1Department of Experimental Medicine, Policlinico Umberto I Hospital, Sapienza University of Rome, 00161 Rome, Italy.
Insights
Chromosomal microarray analysis (CMA) is valuable for diagnosing fetal cardiovascular malformations (CVM). This genetic testing identifies copy number variations, aiding in prenatal management and genetic counseling for these common structural anomalies.
Area of Science:
- Medical Genetics
- Prenatal Diagnosis
- Cardiology
Background:
- Cardiovascular malformations (CVM) are the most frequent structural anomalies in newborns.
- Prenatal suspicion of CVM necessitates comprehensive evaluation, including fetal echocardiography and genetic assessment.
- Chromosomal microarray analysis (CMA) is a key genetic tool for detecting copy number variations.
Purpose of the Study:
- To determine the incremental diagnostic yield of CMA in fetuses with isolated CVM.
- To analyze CMA detection rates across different categories of fetal heart disease.
- To guide genetic counseling and prenatal management strategies for CVM.
Main Methods:
- Systematic review and meta-analysis of existing literature on CMA in fetal isolated CVM.
- Retrospective analysis of 59 fetuses with isolated CVM and normal karyotype who underwent CMA.
- Categorization of diagnostic yields based on specific types of CVM.
Main Results:
- The incremental diagnostic yield of CMA for fetal isolated CVM was 5.79%.
- Conotruncal malformations had the highest detection rate (15.93%) by CMA.
- Lower yields were observed for ventricular septal defects (2.64%) and aberrant right subclavian artery (0.66%).
Conclusions:
- CMA is an effective tool for investigating the genetic causes of fetal cardiovascular malformations.
- The diagnostic yield of CMA varies depending on the type of CVM.
- CMA findings support informed genetic counseling and prenatal management decisions.
Abstract:
Cardiovascular malformations (CVM) represent the most common structural anomalies, occurring in 0.7% of live births. The CVM prenatal suspicion should prompt an accurate investigation with fetal echocardiography and the assessment through genetic counseling and testing. In particular, chromosomal microarray analysis (CMA) allows the identification of copy number variations. We performed a systematic review and meta-analysis of the literature, studying the incremental diagnostic yield of CMA in fetal isolated CVM, scoring yields for each category of heart disease, with the aim of guiding genetic counseling and prenatal management. At the same time, we report 59 fetuses with isolated CVM with normal karyotype who underwent CMA. The incremental CMA diagnostic yield in fetuses with isolated CVM was 5.79% (CI 5.54-6.04), with conotruncal malformations showing the higher detection rate (15.93%). The yields for ventricular septal defects and aberrant right subclavian artery were the lowest (2.64% and 0.66%). Other CVM ranged from 4.42% to 6.67%. In the retrospective cohort, the diagnostic yield was consistent with literature data, with an overall CMA diagnostic yield of 3.38%. CMA in the prenatal setting was confirmed as a valuable tool for investigating the causes of fetal cardiovascular malformations.
