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The paper summarises the results of prenatal diagnosis obtained during first three years after introducing this method in the Medical University of Gdansk. During that period 270 pregnant women, aged 18-47 years, underwent amniocentesis. The most frequent indication for prenatal diagnosis was the advanced age of a pregnant woman - 72.6% of women were tested for this reason. Other indications were: previous birth of a child with a chromosomal rearrangement, or a central nervous system defect and familiar occurrence of a chromosomal translocation. The efficacy of prenatal diagnosis was high and amounted to 99.2%. Foetal karyotypes were normal in 94.8% of cases, whereas abnormal results were obtained in 4.2% of cases. Among abnormal results autosomal trisomies were observed most often, and the trisomy 21 was the most frequent (1.9%). Among other chromosomal abnormalities single cases of trisomies 13 and 18, two cases of monosomy X, pericentric inversion of chromosome 2 and two translocations - unbalanced between chromosomes 13 and 18 and reciprocal, probably balanced between chromosomes 9 and 13 were found. Familial constitutional polymorphism of chromosome 9 (pericentric inversion) was observed in five cases, with the frequency of 1.8%, equal to the frequency of this rearrangement in the general population. It should be noticed that most mothers (73.3%) and fathers (65.9%) from the couples who decided to undergo prenatal diagnosis had secondary or higher education. Prenatal diagnosis meets with general acceptance of pregnant women, who have expressed their positive opinion about prenatal diagnosis more than once.

Type

Journal article

Journal

Annales Academiae Medicae Gedanensis

Publication Date

01/12/2000

Volume

30

Pages

27 - 35