[Prenatal diagnosis in the 1st trimester of pregnancy of the male fetus at risk for hemophilia B]. / Prenatalna dijagnoza muskog zametka u prvom trimestru trudnoce pod rizikom za hemofiliju B.

It is for the first time that chorionic villi biopsy was performed for diagnostic purposes; the indication for prenatal testing was haemophilia B-X-linked disease. The chorionic tissue was obtained by transcervical aspiration in the 9th week of gestation under ultrasound guidance. The techniques used for cytogenetic investigation were the Y body technique and direct fetal karyotyping. The presence of Y body was determined by slide examination. The analysis of the fetal karyotype confirmed the diagnosis of a male fetus. As this fetus had a great risk (50%) of being born with haemophilia B, the parents decided to terminate the pregnancy. It was done 9 days following the test. During this period no complications were observed. The chorionic villi biopsy has proved easy, quick, and successful in the diagnosis of X-linked disorders.

[Prenatal diagnosis of hereditary diseases using chorionic villi]. / Prenatalna dijagnoza naslednih oboljenja na horionskim cupicama.

The paper is based on the first results of a preliminary study of the cytogenetic analysis of chorionic villi samples. Chorionic villi were obtained from 31 women undergoing artificial abortion in the first trimester of pregnancy. The tissue was used for direct chromosome preparations and sex-chromatin examinations (X and Y body). The results suggest the possibility of a simple and quick prenatal determination of fetal sex in the first trimester and the provision of a sufficient number of mitosis with well-spread chromosomes. This new method may become the method of choice in prenatal diagnosis after being thoroughly examined and verified.