Maternal urinary steroid profiles in prenatal diagnosis of Smith-Lemli-Opitz syndrome: first patient series comparing biochemical and molecular studies.

Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder caused by reduced activity of 7-dehydrocholesterol (7DHC) reductase, resulting in a decreased level of cholesterol and increased concentrations of 7DHC and 8DHC in body fluids and tissues. Ten pregnancies at 25% risk of SLOS underwent prenatal testing. Diagnostic studies included DHCR7 mutation analysis in chorionic villus samples, amniotic fluid sterol analysis and serial measurements of oestriol (E3), pregnanetriol (PT), 7-dehydropregnanetriol (7DHPT) and 8-dehydroesteriol (8DHE3) concentrations in maternal urine samples obtained between 9 and 20 weeks of gestation. All tests were diagnostic and revealed nine unaffected foetuses (two normal homozygotes and seven DHCR7 heterozygotes) and one affected foetus. In the affected pregnancy, 7DHC and 8DHC in amniotic fluid were 9.87 and 3.7 microg/ml, respectively [reference range (RR) 0.0026 +/- 0.0015 microg/ml and not detectable, respectively] and maternal urinary steroid analyses showed increased ratios of 7DHPT/PT and 8DHE3/E3 of 0.74 and 1.7, respectively (RR 0-0.0147 and 0-0.019). In the heterozygous foetuses, 7DHPT/PT and 8DHE3/E3 ratios did not exceed those found in 48 normal controls. This is the first series of prenatal diagnostic testing for SLOS where non-invasive biochemical testing was performed in tandem with invasive diagnostic testing. We conclude that steroid measurements in maternal urine are a reliable means of prenatal diagnosis for SLOS.

[Ultrasonographic evaluation of fetal central nervous system in I trimester of pregnancy using vaginal probes]. / Ultrasonograficzna ocena osrodkowego ukladu nerwowego plodu w I trymestrze ciazy przy uzyciu sondy pochwowej.

Vaginal ultrasound gauge of 7 MHz frequency (Brüel and Kjaer) was used to examine 70 pregnant women. These women were referred to the prenatal counselling center due to previous deliveries of babies with CNS defects or other anatomical or genetic abnormalities. Ultrasound scans were carried out in the 8th to 12 ve week of gestation. The authors suggest that ultrasound enables precise assessment of fetal CNS in the I trimester already (visible skull and cerebral ventricles after 8-9 weeks, spine--after 9-10 weeks). Authors' findings are documented photographically.

[Deletions within the gene of dystrophin in Duchenne and Becker muscular dystrophy]. / Wystepowanie delecji w obrebie genu dystrofiny w dystrofii miesniowej typu Duchenne'a i Backera.

DNA was isolated and analysed in 96 patients with Duchenne or Becker muscular dystrophy (DMD, BMD); 9 of them were affected with BMD. Delections were found in 60 Patients (62.5%) using six cDNA probes. In some cases the PCR technique was also applied. In patients with BMD all deletions but one were in frame and involved exons 45-54. On the contrary, most deletions in DMD were out of frame and varied in their location. In five families prenatal diagnosis was carried out.

[Use of intravaginal ultrasonography in obstetrics and gynecology]. / Zastosowanie ultrasonografii przezpochwowej w poloznictwie i ginekologii.

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.

Insulin and human growth hormone in the amniotic fluid in normal pregnancy and in cases of fetal central nervous system anomalies.

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.

Phosphate compounds in the erythrocytes of newborns with ABO systems haemolytic disease.

The following phosphate compounds of the erythrocyte acid-soluble fraction were subjected to chromatographic separation: ADP, ATP, adenylo-diphosphoglycerate, 2,3-diphosphoglycerate, hexose monophosphate, hexose diphosphate. In each of the fractions total phosphorus, and in fraction II inorganic phosphorus, were estimated. The material was derived from ten newborns with haemolytic disease as a result of ABO incompatability and from ten full-term healthy newborns, just after birth. The concentration of the compounds assayed, except for 2,3-DPG (the values in both groups were similar) was higher in the erythrocytes from affected newborns, but lower than that found in the material derived from the newborns with Rh incompatibility. It is suggested that the metabolism of erythrocytes of the newborns with haemolytic ABO disease may be somewhat different from that in Rh incompatibility cases because in the former the haemolysis is weaker, the anaemia is less pronounced and the tissue hypoxia is of a smaller degree.