Detection of fetal HLA-DQα sequences in maternal blood: A gender-independent technique of fetal cell identification

The objective of this study was to detect fetal HLA-DQα gene sequences in maternal blood. HLA-DQα genotypes of 70 pregnant women and their partners were determined for type A1. We specifically sought couples where the father, but not the mother, had genotype A1. In 12 women, maternal blood samples were flow-sorted. Candidate fetal cells were isolated and amplified by using PCR primers specific for a paternal HLA-DQα A1 allele. Fetal HLA-DQα A1 genotype was predicted from sorted cells; amniocytes or cheek swabs were used for confirmation. Six of twelve sorted samples had amplification products indicating the presence of the HLA-DQα A1 allele; 6/12 did not. Prediction of the fetal genotype was 100 per cent correct, as determined by subsequent amplification of amniocytes or cheek swabs. We conclude that paternally inherited uniquely fetal HLA-DQα gene sequences can be identified in maternal blood. This system permits the identification of fetal cells independent of fetal gender, and has the potential for non-invasive prenatal diagnosis of paternally inherited conditions.     

Maternal age-specific risks for trisomies at 9—14 weeks' gestation

This study provides data on the incidence of fetal trisomies 21, 18, and 13 at 9–14 weeks' gestation in women aged 35–45 years and estimates of maternal age-specific risks in women aged 20–45 years. Our data from 5814 singleton pregnancies undergoing first-trimester karyotyping for the sole indication of maternal age ⩾ 35 years were combined with those from two previous reports and the incidence of the trisomies was calculated from a total of 15 793 pregnancies. Comparison of incidences at 9–14 weeks' gestation with published data at 15–20 weeks' gestation and in livebirths demonstrated that at birth the maternal age-specific incidence of trisomy 21 is 33 per cent lower than at 15–20 weeks' gestation and 54 per cent lower than at 9–14 weeks' gestation. Furthermore, the relative frequency of trisomies 18 and 13 decreases from 30 per cent at 9–14 weeks to 22 per cent at 15–20 weeks and 14 per cent at birth.     

MSAFP levels and oesophageal atresia

This study was undertaken to evaluate the relationship between maternal serum alpha-fetoprotein (MSAFP) levels and oesophageal atresia (OA). OA occurred in 16 fetuses of mothers who had an MSAFP test in the study interval. The multiple of the median (MOM) value for MSAFP averaged 1·54 ± 0·65 (range 0·5–2·9 MOM), which was significantly higher than the value seen in controls. The median MOM was 1·35. Using a cut-off of 2·5 MOM, the sensitivity of MSAFP for detecting OA was 19 per cent. Although OA should be considered in the differential diagnosis of an elevated MSAFP level, MSAFP cannot be considered an appropriate screening test for OA given the low sensitivity.     

Serum PAPP-A levels are depressed in women with fetal Down syndrome in early pregnancy

The value of maternal serum pregnancy-associated plasma protein (PAPP)-A in screening for Down syndrome in early pregnancy was assessed using stored samples. Seventeen cases of Down syndrome and 66 unaffected control pregnancies were studied. The median PAPP-A level in the cases was 0.42 multiples of the expected value in controls (p <0.0001). Eleven cases (65 per cent) had levels less than half the expected value compared with only six controls (9 per cent). A commercial assay kit is now needed so that prospective screening with this marker can begin.     

Zelluläre Wirkungen der ultravioletten Komponente des Sonnenlichts

The discussion on the possible increase of solar UV on earth due to the destruction of the stratospheric ozone has led to a renewed interest in the action of ultraviolet radiation on biological systems. The paper deals with changes at the cellular level stressing particularly molecular alterations in deoxyribonucleic acid, the carrier of genetic information. The most important repair processes by which lesions are removed or bypassed are described. It is also discussed whether the effectivity of a complex spectrum can be predicted on the basis of measurements with monochromatic radiation. Furthermore, possible consequences on human health are outlined which may be derived from cellular studies.     

Prenatal ultrasound diagnosis of fetal scoliosis with termination of the pregnancy: Case report

Gross scoliosis of the fetal thoracic spine was diagnosed at 18 weeks gestation. The pregnancy was terminated and the fetus found to have webbing of the neck and an imperforate anus in addition to vertebral defects.     

Hydrogen storage and distribution systems

Hydrogen storage and transportation or distribution is closely linked together. Hydrogen can be distributed continuously in pipelines or batch wise by ships, trucks, railway or airplanes. All batch transportation requires a storage system but also pipelines can be used as pressure storage system. Hydrogen exhibits the highest heating value per weight of all chemical fuels. Furthermore, hydrogen is regenerative and environment friendly. There are two reasons why hydrogen is not the major fuel of toady’s energy consumption: First of all, hydrogen is just an energy carrier. And, although it is the most abundant element in the universe, it has to be produced, since on earth it only occurs in the form of water. This implies that we have to pay for this energy, which results in a difficult economic task, because since the industrialization we are used to consuming energy for free. The second difficulty with hydrogen as an energy carrier is the low critical temperature of 33 K, i.e. hydrogen is a gas at room temperature. For mobile and in many cases also for stationary applications the volumetric and gravimetric density of hydrogen in a storage system is crucial. Hydrogen can be stored by six different methods and phenomena: high pressure gas cylinders (up to 800 bar), liquid hydrogen in cryogenic tanks (at 21 K), adsorbed hydrogen on materials with a large specific surface area (at T < 100 K), absorbed on interstitial sites in a host metal (at ambient pressure and temperature), chemically bond in covalent and ionic compounds (at ambient pressure), oxidation of reactive metals e.g. Li, Na, Mg, Al, Zn with water. These metals easily react with water to the corresponding hydroxide and liberate the hydrogen from the water. Finally, the metal hydroxides can be thermally reduced to the metals in a solar furnace.