Affiliation:
1. Clinical Center Niš, Pediatric Clinic, Niš
2. Clinical Center Niš, Pediatric Clinic, Niš + Faculty of Medicine, Niš
3. Clinical Center Niš, Center for Pathology and Pathological Anatomy, Niš
Abstract
Congenital anomalies are the cause of prenatal death in 20-25% of the cases,
while 3% of children are born with a malformation of varying size. Many of
these anomalies can be detected before birth using different non-invasive
and invasive prenatal diagnostic tests. This study was used to determine the
distribution of genetic disorders in relation to the age of the mother, the
frequency of aberrations and to study the effects and importance of prenatal
diagnosis in South Serbia. Prenatal diagnostics was performed at the
Pediatric Clinic within the Clinical Center of Nis. This retrospective study
included a group of 8830 pregnant women, aged between 18 and 47 years during
the period from 2004 to 2017. Amniocentesis was performed between the 16th
and 18th week of pregnancy and involved the aspiration of 20 ml of amniotic
fluid. Isolated cells were cultured in a medium that stimulates cell growth
for 10 days. After cytogenetic processing, the obtained karyotype was
analyzed using G-banding techniques. In 8830 samples of amniotic fluid cell
cultures, 198 karyotypes with chromosomal aberrations were found - 179 with
numerical aberrations and 19 with structural aberrations such as
translocations, inversions and deletions. There were 85 karyotypes with
autosomal numerical aberrations and 32 karyotypes with sex chromosome
numerical aberrations. The most frequent one was trisomy 21 (106 cases). The
highest number of autosomal numerical aberrations, 84%, was found in
pregnancies where maternal age was above 30 years. Preventive action,
advice, education and availability of prenatal diagnosis can lead to a
significant reduction in the number of children born with various
malformations.
Publisher
National Library of Serbia
Cited by
1 articles.
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