Prevalence of chromosomal abnormalities in fetal heart defects, congenital diaphragmatic hernia and non-immune hydrops fetalis based on molecular karyotyping data (experience of the national center)
17.02.2025
17:11
The group of researchers from Academician V.I. Kulakov National Medical Research Centre for Obstetrics, Gynecology and Perinatology, Ministry of Health of Russia (Moscow, Russia) conduct a study aimed to evaluate the role of chromosomal abnormalities in the development of fetal heart defects, congenital diaphragmatic hernia, and non-immune fetal hydrops.
The study showed that the incidence of chromosomal abnormalities in the fetuses of pregnant women in the study groups was 19.4% (30/155), including 11.6% (18/155) cases of pathogenic copy number variations. Conventional karyotyping would classify these patients as fetuses without chromosomal abnormalities. Given these findings, chromosomal microarray analysis is recommended as a first-line test in the genetic study of fetuses with congenital malformations and non-immune fetal hydrops.
Since a number of fetal malformations tend to be detected late, it is recommended to perform invasive prenatal diagnostic procedures at more than 22 weeks gestation in order to provide complete perinatal counseling to the couple and to enable the family to make a reproductive choice.
