Prenatal Diagnosis by Array Comparative Genomic Hybridization in Fetuses with Cardiac Abnormalities.

Katarzyna Kowalczyk ,Krystyna Jakubów‐Durska ,Tomasz Roszkowski ,Boyana Mikulska ,Szymon Kozłowski ,Ewa Obersztyn ,Marta Kędzior ,Jennifer Castañeda ,Joanna Bernaciak ,Anna Kutkowska-Kaźmierczak ,Maciej Geremek ,Paweł Własienko ,Barbara Wiśniowiecka‐Kowalnik ,Natalia Braun-Walicka ,Marzena Dębska ,Tadeusz Issat ,Izabela Plaskota ,Anna Kucińska‐Chahwan ,Marta Smyk ,Magdalena Bartnik-Głaska ,Artur Barczyk ,Beata Nowakowska

doi:10.3390/genes12122021

Katarzyna Kowalczyk , Krystyna Jakubów‐Durska + Show 20 more

Open Access

https://doi.org/10.3390/genes12122021

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Abstract

Congenital heart defects (CHDs) appear in 8–10 out of 1000 live born newborns and are one of the most common causes of deaths. In fetuses, the congenital heart defects are found even 3–5 times more often. Currently, microarray comparative genomic hybridization (array CGH) is recommended by worldwide scientific organizations as a first-line test in the prenatal diagnosis of fetuses with sonographic abnormalities, especially cardiac defects. We present the results of the application of array CGH in 484 cases with prenatally diagnosed congenital heart diseases by fetal ultrasound scanning (256 isolated CHD and 228 CHD coexisting with other malformations). We identified pathogenic aberrations and likely pathogenic genetic loci for CHD in 165 fetuses and 9 copy number variants (CNVs) of unknown clinical significance. Prenatal array-CGH is a useful method allowing the identification of all unbalanced aberrations (number and structure) with a much higher resolution than the currently applied traditional assessment techniques karyotype. Due to this ability, we identified the etiology of heart defects in 37% of cases.

Highlights

IntroductionCongenital heart defects (CHDs) are the most common life-threatening birth defects, with an estimated incidence of 0.6% to 0.8%, affecting more than 150,000 in all newborns
We present the results of the chromosomal microarray analysis in a cohort of 484 cases with prenatally diagnosed congenital heart diseases by fetal ultrasound scanning (256 isolated Congenital heart defects (CHDs) and 228 CHD coexisting with other malformations)
Chromosomal aberrations were found in 176 cases (74 in isolated CHD and 102 in CHD coexisting with other malformations)

Summary

Introduction

Congenital heart defects (CHDs) are the most common life-threatening birth defects, with an estimated incidence of 0.6% to 0.8%, affecting more than 150,000 in all newborns. The phenotype of CHD is often associated with other anomalies and genetic syndromes. Detection of CHD in the fetus enables the use of specialized procedures in the perinatal period and in the first days of life. Patients with CHD often require surgical intervention, intensive medical management, and multidisciplinary follow-up. Chromosomal pathogenic abnormalities are detected in 27–28% of children with heart defects coexisting with other birth abnormalities [1] and 3–12% in fetuses with isolated heart defects revealed by ultrasound [2]

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