Chromosomal Microarray Analysis in Fetuses Detected with Isolated Cardiovascular Malformation: A Multicenter Study, Systematic Review of the Literature and Meta-Analysis.
Gioia MastromoroNader Khaleghi HashemianDaniele GuadagnoloMaria Grazia GiuffridaBarbara TorresLaura BernardiniFlavia VentrigliaGerardo PiacentiniAntonio PizzutiPublished in: Diagnostics (Basel, Switzerland) (2022)
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.
Keyphrases
- copy number
- mitochondrial dna
- genome wide
- gestational age
- pregnant women
- systematic review
- dna methylation
- left ventricular
- pulmonary hypertension
- computed tomography
- high resolution
- gene expression
- smoking cessation
- hepatitis c virus
- bioinformatics analysis
- hiv testing
- sensitive detection
- real time pcr
- loop mediated isothermal amplification