Abstract:
Introduction. The medical-genetic counseling is one of the most widespread and effective
methods of prenatal diagnosis (PD) and prophylaxis of congenital and hereditary pathologies.
Aim of the study. To highlight the role of medical-genetic counseling and prenatal diagnosis in
pregnancies with risk for malformations of the brain (MB) at early stages of intrauterine
development to reduce the incidence of congenital MB in newborn.
Materials and methods. The medical-genetic counseling of the 657 pregnant women during
2015-2017 years, which were divided into two groups: a) I group - 239 women with medium and
high genetic risk; b) the II group - 418 women with low genetic risk.
Results. All pregnant women in the study performed noninvasive PD: ultrasound and
biochemical screening. In 49 cases the values of serum alpha-fetoprotein were elevated.
Examination of pregnant women on informative terms by non-invasive prenatal diagnosis (fetal
ultrasonography) allowed the diagnosis of MB to fetuses in 33 cases. Cerebral fetal
malformations diagnosed prenatally through the ultrasound examination were: spina bifida - 6
cases, anencephaly - 5 cases, holoprozencephaly - 5 cases, corpus calosum agenesia - 7 cases,
hydrocephaly - 4 cases, Dandy-Walker malformation - 3 cases, schizencephaly - 1 case,
lisencephaly - 1 case. The medical-genetic counseling were provided to couples. The final
decision to interrupt the pregnancy was made by couples. A prophylaxis plan was developed in
families with genetic risk.
Conclusions. PD and medical-genetic counseling help to reduce the frequency of congenital
malformations in newborns also makes it possible to prevent the birth of children with CM and
chromosomal abnormalities diagnosed prenatally until 21 weeks of gestation.
Description:
Department of
Molecular Biology and Human Genetics,
Nicolae Testemitanu State University of Medicine and Pharmacy of the Republic of Moldova,
PMSI Institute Mother and Child, Chisinau Republic of Moldova