The role of chromosomal abnormalities in fetal congenital heart defects

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Abstract

Objective: The objective of this study was to investigate the frequency of chromosomal abnormalities in various nosological forms of fetal congenital heart defects (CHDs).

Materials and methods: The study included 72 pregnant women who received a prenatal diagnosis of fetal CHD. Between 15 and 30 weeks of pregnancy, the women underwent invasive prenatal diagnostic procedures. Fetal DNA testing was performed in two stages. The first stage was detection of abnormalities in chromosomes 13, 18, 21, X, and Y using polymerase chain reaction analysis of short-tandem repeat (STR) markers (STR-PCR). The second stage was chromosomal microarray analysis (CMA).

Results: Among 72 women, congenital heart defects were found in combination with chromosomal abnormalities in 16 сases (22.2% of total cases). Of them, trisomy 21 was identified in 4 cases (5.6%), trisomy 18 in 2 cases (2.8%), microdeletion from chromosome 22 in 8 cases (11.1%), microdeletion from chromosome 12 in 1 case (1.4%), microdeletion from chromosome 1 in 1 case (1.4%). Additionally, aneuploidies were detected in 6 cases (8.3%) using quantitative fluorescent polymerase chain reaction (QF-PCR), and all copy number variations were confirmed by chromosomal microarray analysis (CMA) in 10 cases (13.9%).

Conclusion: The study found that fetal congenital heart defects were associated with chromosomal abnormalities in 22% of cases (in 16 cases out of 72). The majority of abnormalities were related to pathogenic gene copy number variants in 62.5% of cases (in 10 cases out of 16). Based on the findings, the preferred invasive method of prenatal diagnostics should be considered to be chromosomal microarray analysis, as it provides comprehensive genetic information.

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About the authors

Viсtoriia S. Pak

Academician V.I. Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, Ministry of Health of Russia

Author for correspondence.
Email: v_pak@oparina4.ru
ORCID iD: 0009-0002-1444-9071

post-graduate student

Russian Federation, Moscow

Nana K. Tetruashvili

Academician V.I. Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, Ministry of Health of Russia

Email: n_tetruashvili@oparina4.ru
ORCID iD: 0000-0002-9201-2281

PhD, Head of the Obstetric Department of Pregnancy Pathology No. 2

Russian Federation, Moscow

Ekaterina L. Bokeriya

Academician V.I. Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, Ministry of Health of Russia

Email: e_bokeriya@oparina4.ru
ORCID iD: 0000-0002-8898-9612

PhD, Researcher at the Department of Patology of Newborn and Prematurely-Born Children No. 2

Russian Federation, Moscow

Jekaterina Shubina

Academician V.I. Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, Ministry of Health of Russia

Email: e_shubina@oparina4.ru
ORCID iD: 0000-0003-4383-7428

PhD (Bio.), Head of the Laboratory of Genomic Data Analysis

Russian Federation, Moscow

Nadezhda V. Zaretskaya

Academician V.I. Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, Ministry of Health of Russia

Email: n_zaretskaya@oparina4.ru
ORCID iD: 0000-0001-6754-3833

PhD, Head of the Laboratory of Clinical Genetics of the Institute of Reproductive Genetics

Russian Federation, Moscow

Anna S. Bolshakova

Academician V.I. Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, Ministry of Health of Russia

Email: a_bolshakova@oparina4.ru
ORCID iD: 0000-0002-7508-0899

geneticist, Department of Clinical Genetics of the Institute of Reproductive Genetics

Russian Federation, Moscow

Daria G. Lyushnina

Academician V.I. Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, Ministry of Health of Russia

Email: d_lyushnina@oparina4.ru
ORCID iD: 0009-0004-3160-8737

post-graduate student

Russian Federation, Moscow

Maria V. Kuznetsova

Academician V.I. Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, Ministry of Health of Russia

Email: mkarja@mail.ru
ORCID iD: 0000-0003-3790-0427

PhD (Bio.), Senior Researcher at the Laboratory of Molecular and Genetic Methods of the Institute of Reproductive Genetics

Russian Federation, Moscow

Galina V. Mikhailovskaya

Academician V.I. Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, Ministry of Health of Russia

Email: g_mikhailovskaia@oparina4.ru

biologist at the Laboratory of Molecular and Genetic Methods of the Institute of Reproductive Genetics

Russian Federation, Moscow

Igor O. Sadelov

Academician V.I. Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, Ministry of Health of Russia

Email: a_sadelov@oparina4.ru
ORCID iD: 0000-0002-5144-6307

geneticist, Laboratory of Genomic Data Analysis

Russian Federation, Moscow

Dmitriy Yu. Trofimov

Academician V.I. Kulakov National Medical Research Center for Obstetrics, Gynecology and Perinatology, Ministry of Health of Russia

Email: d_trofimov@oparina4.ru
ORCID iD: 0000-0002-1569-8486

Dr. Bio. Sci., Professor of the RAS, Corresponding Member of the RAS, Director of the Institute of Reproductive Genetics

Russian Federation, Moscow

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