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.

[Ultrasonographic evaluation of fetal central nervous system in I trimester of pregnancy using vaginal probes].

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.

[Deletions within the gene of dystrophin in Duchenne and Becker muscular dystrophy].

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.

[Use of intravaginal ultrasonography in obstetrics and gynecology].

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.