[The activity of certain enzymes in the blood plasma in the early stages of pregnancy and after its interruption].
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Biomedical subjects
Publications and source records attributed to L Wiśniewski.
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Our patients with 9p-syndrome show typical stigmata when compared with the 28 know cases described in the literature . In Table 1 we compared our 4 cases with those previously described. Only A.K. lacks two features present in all the others: flat occiput and micrognathia.
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The case of the child with ring chromosome 4 is presented. The phenotype of the patient does not show features of Wolf syndrome (4p-).
A role and advantages of the vaginal transducer ultrasound in obstetric and gynecological diagnosis is discussed. Sixteen selected ultrasonograms illustrate cases of selected diagnoses made with this technique. Authors' own experience justify a conclusion that this technique is a significant progress in obstetric and gynecological diagnosis. It is well tolerated and very useful, specially in cases difficult to diagnose with routine ultrasound techniques.
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It is believed that the method of detection of chromosomal translocation carrier state may be a prognostic factor for the risk of giving birth to an ill child with unbalanced karyotype. For verification of this view 30 families were studied which had balanced mutual translocations identified by means of GTG banding technique in the Genetics Laboratory of the Child's Health Centre. In each family the risk was estimated of the development of an undifferentiated karyotype in live born offspring and fetuses in the 2nd trimester of pregnancy using a method evolved by Stengel--Rutkowski et al. (1988). In the group of families identified by examination of a child with abnormalities the individual risk of development of an undifferentiated karyotype in a newborn was from 0.45% to 19.78% and in a fetus it was 4.5% to 46%. In the group of families identified by spontaneous abortion the risk in the newborns was from 0 to 7% and in the fetuses in 2nd trimester it was 0 to 35%, while in the families undergoing cytogenetic examinations for indications other than reproduction disturbances the risk of an unbalanced karyotype in the newborns was from 0 to 23%, and in the fetuses from 0 to 34%. Since in each group of families high-risk translocations were found, the used methods of preliminary estimation of the risk based on the used ways of family identification are open to reservations.
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Amniotic fluid samples were obtained by amniocentesis in the 17th-18th weeks of pregnancy from 36 women with normal pregnancy and 6 patients with pregnancy complicated by anencephaly and/or spina bifida. Insulin and human growth hormone levels were determined by radioimmunoassay. In normal pregnancy the mean values were: 3.39 +/- 0.54 microU/ml for insulin, and 9.32 +/- 1.03 ng/ml for human growth hormone. In pregnancy complicated by anencephaly and spina bifida low insulin values and normal growth hormone values were found.
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