DNA polymorphism and globin chain analysis in the prenatal diagnosis of β-thalassaemia major in Taiwan

Thirty-six pregnancies in 25 families at risk of β-thalassaemia major received prenatal diagnosis. Chorionic villus sampling or amniocentesis was done in 35 pregnancies to obtain fetal cells for DNA linkage study, for which Southern blotting and DNA hybridization were used to detect seven restriction fragment length polymorphisms (RFLPs) within the β-globin gene cluster: ϵ-HincII, ^Gγ-HindIII, ^Aγ-HindIII, Φβ-HincII, 3′Φβ-HincII, β-AvaII, and 3′β BarnHI. β-Thalassaemia major was diagnosed in seven and excluded in 22 pregnancies. In the remaining six cases, β-thalassaemia major could not be excluded. In these six pregnancies and another one with late booking, ultrasound-guided cordocentesis was performed at the 22nd to 27th week of gestation. Globin chain composition was determined with urea-acetic acid-Triton X-100-12 per cent polyacrylamide gel electrophoresis. β-Thalassaemia major was diagnosed in two fetuses and excluded in the other five. Eleven fetuses (in which β-thalassaemia major was excluded) have been delivered and are healthy at more than 5 months old DNA linkage analysis coupled with globin chain electrophoresis provides an effective way for prenatal diagnosis of β-thalassaemia major, although these methods are being replaced by more direct detection techniques using oligonucleotide probes.     

Structural refinement of the high-T c superconductor TlBa2Ca2Cu3O9

The Science of Nature -     

Intrauterine manometry: Technique and application to fetal pathology

A technique is described for measuring pressure within the amniotic cavity and within fetal vessels and/or body compartments. Two saline-filled catheters were connected at one end to needles inserted during indicated invasive procedures and at the other to silicon strain gauge transducers. In 36 pregnancies with normal liquor volume, stable intra-amniotic pressure (IAP, range 1–14 mmHg) increased with gestation (r=0·48, p<0·01). In pregnancies complicated by severe oligohydramnios, IAP was ≤ 1 mm Hg and rose to normal levels with saline amnioinfusion. Raised IAP (range 17–26 mm Hg), found in pregnancies with gross polyhydramnios, fell with drainage of amniotic fluid. Subtraction manometry was used to determine supra-amniotic pressure within the intervillus space, umbilical vein, umbilical artery, abdominal and thoracic cavities, and the urinary tract in normal and/or pathological fetuses. Low intravesical and intrapelvicalyceal pressures (median 6·5, range 2–10 mmHg) were noted in fetuses with obstructive uropathies. Intrauterine subtraction manometry appears to be a useful tool in the understanding of fetal pathophysiology and may be of clinical benefit in the therapeutic drainage and infusion of amniotic fluid and in the assessment of certain fetal disease states.     

Direct measurement of negative pressure in artificial-biological systems

We are very grateful to A. Gessner for his great help in the construction of the apparatus and A. Meyer for performance of some pressure bomb experiments. This work was supported by grants of the Deutsche Forschungsgemeinschaft (Forschergruppe Ökophysiologie) to U.Z. and O.L.L.