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

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

doi:10.3390/genes12122021

Genes (Dec 2021)

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

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

Affiliations

Katarzyna Kowalczyk: Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland
Magdalena Bartnik-Głaska: Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland
Marta Smyk: Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland
Izabela Plaskota: Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland
Joanna Bernaciak: Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland
Marta Kędzior: Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland
Barbara Wiśniowiecka-Kowalnik: Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland
Krystyna Jakubów-Durska: Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland
Natalia Braun-Walicka: Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland
Artur Barczyk: Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland
Maciej Geremek: Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland
Jennifer Castañeda: Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland
Anna Kutkowska-Kaźmierczak: Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland
Paweł Własienko: Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland
Marzena Dębska: 1st Department of Obstetrics and Gynecology Medical University of Warsaw, Plac Starynkiewicza 1/3, 02-015 Warsaw, Poland
Anna Kucińska-Chahwan: Department of Gynecology Oncology and Obstetrics, Medical Centre of Postgraduate Education (CMKP), Czerniakowska 231, 00-416 Warsaw, Poland
Tomasz Roszkowski: Department of Gynecology Oncology and Obstetrics, Medical Centre of Postgraduate Education (CMKP), Czerniakowska 231, 00-416 Warsaw, Poland
Szymon Kozłowski: Clinic of Obstetrics and Gynaecology, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland
Boyana Mikulska: Clinic of Obstetrics and Gynaecology, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland
Tadeusz Issat: Clinic of Obstetrics and Gynaecology, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland
Ewa Obersztyn: Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland
Beata Anna Nowakowska: Department of Medical Genetics, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, Poland

DOI: https://doi.org/10.3390/genes12122021
Journal volume & issue: Vol. 12, no. 12
p. 2021

Abstract

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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.

Published in Genes

ISSN: 2073-4425 (Online)
Publisher: MDPI AG
Country of publisher: Switzerland
LCC subjects: Science: Biology (General): Genetics
Website: http://www.mdpi.com/journal/genes/

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