[Prenatal cytogenetic diagnosis of trisomy 21 using amniotic fluid cells]. / Prenatálna cytogenetická diagnostika trizómie 21 z buniek plodovej vody.

BACKGROUND: Trisomy 21 is the most frequent chromosomal disorder which is associated with advanced maternal age. OBJECTIVES: The aim of our work was to examine the risk of trisomy 21 occurrence in a group of pregnant women subdued to prenatal cytogenetic examination. METHODS: The examined group consisted of 1128 pregnant women. The cells for cytogenetic analysis were obtained by means of transabdominal amniocentesis during the second trimester of pregnancy. Cultivation of amniocytes lasted 15-20 days. The chromosomes were stained by a conventional and G-striping method. RESULTS: Cytogenetic analyses have indicated that the aberrant karyotype was present in 32 (2.82%) out of 1128 fetuses. In addition the results have confirmed that trisomy represented the most frequent chromosomal aberration (60%) detected by means of prenatal cytogenetic diagnostic examinations and the risk of its incidence increased exponentially in women who were older than 35 years of age. CONCLUSIONS: The prenatal cytogenetic diagnosis represents a significant role in the prevention of hereditary conditioned chromosomal disorders. (Tab. 1, Fig. 1, Ref, 13.)

[Prenatal cytogenetic diagnosis in older pregnant women]. / Prenatálna cytogenetická diagnostika u tehotných zien vyssích vekových skupín.

The paper deals with the genetic risk of advanced age of women assessed on the basis of prenatal cytogenetic analysis during the second trimester of gestation. The examined group comprised 614 pregnant women older than 35 years. The cells for chromosomal analysis were obtained by transabdominal amniocentesis during the 16th to 18th week of gestation. Cytogenetic examination revealed that the general risk of an aneuploid foetus in women of more advanced age is 2.12% and the most frequently encountered chromosomal aberration was trisomy 21 which was confirmed in 1.30 cytogenetically examined foetuses.