[The results of cytogenetic analyses in prenatal diagnosis]

Med Pregl. 2007 Nov-Dec;60(11-12):611-3. doi: 10.2298/mpns0712611j.
[Article in Serbian]

Abstract

Introduction: G-banding and other classical cytogenetic methods are still in use, together with molecular cytogenetic techniques such as FISH (Fluorescence In Situ Hybridization) and SKY (Spectral Karyotyping).

Material and methods: This retrospective study evaluated clinical data on individuaols seeking genetic counseling over a 15-year period (1992 - 2007) at the Medical Genetic Center, Child and Youth Health Care Institute of Vojvodina in Novi Sad. The study included 37.191 genetic counselings, and 20.607 prenatal analyses (amniocentesis and cordocentesis).

Results: Over a 15-year period (1992 - 2007) 17.937 amniotic fluid samples were analyzed and 274 abnormal karyotypes were found; out of 2.670 fetal blood samples, there were 78 abnormal karyotypes. During a 15-year period, prenatal diagnosis, using amniocentesis and/or cordocentesis, showed 352 fetuses with chromosomal aberrations.

Discussion: On average, over the past 15-year period, 8% of pregnancies were controlled with invasive prenatal procedures. The percentage has changed; in fact, it is increasing from year to year. In 1992, only 0.82% (N=139/17000) of pregnant women in Vojvodina underwent invasive prenatal procedures, and in 2006 the rate increased to 15.65% (N=2660/17000).

Conclusion: It is necessary to improve and promote the possibilities of genetic counseling and invasive prenatal diagnosis in order to prevent the occurrence of chromosomal aberrations and other genetic diseases.

Publication types

  • English Abstract

MeSH terms

  • Cytogenetic Analysis*
  • Female
  • Genetic Counseling
  • Humans
  • Karyotyping
  • Pregnancy
  • Prenatal Diagnosis*