Huntington disease–unaffected fetus diagnosed from maternal plasma using QF-PCR

The discovery of fetal DNA in maternal plasma from early pregnancies has led to new opportunities for clinical application. In the last few years there have been numerous reported applications, mainly fetal gender and RhD genotyping. The prenatal diagnosis of some inherited genetic diseases such as Huntington disease is also very frequently required in the prenatal diagnosis routine. We have successfully diagnosed, with a non-invasive procedure, an unaffected HD fetus at the 13th week of gestation using fetal DNA from maternal plasma and the quantitative fluorescent PCR method, which is one of the most sensitive ways to detect fetal DNA in maternal plasma at such an early time of gestation. Copyright © 2003 John Wiley & Sons, Ltd.     

美军三大自然环境试验中心

介绍了美军三大自然环境试验中心———沙漠环境试验中心、寒冷地区试验中心及热带地区试验中心的职能,并叙述了3个试验中心所能进行的有关测试项目。     

Improved direct molecular diagnosis and rapid fetal sexing

Adaptations of the techniques of modern molecular biology to prenatal diagnosis has opened new avenues for the detection of genetic diseases. We have taken advantage of the rapid adhesion of colony forming cells in cultured amniotic fluid samples to develop an improved method for molecular diagnosis. By employing the cell adherence regime sickle cell diagnosis using Mst II can be undertaken directly. In addition, hybridization with a cloned repetitive sequence that is of Y origin and has limited autosomal homology permits rapid fetal sexing in 3 to 4 days without compromising conventional cytogenetic or biochemical analysis. This combination of techniques provides a useful adjunct to convential prenatal genetic diagnosis in the second trimester.     

Cytogenetic prenatal diagnosis and its relative effectiveness in the mersey region and North Wales

The relative effectiveness of cytogenetic prenatal diagnosis in the Mersey Region and North Wales is presented by estimating the percentage detection rates of Down's syndrome annually following amniocentesis from 1978–1984 inclusive. Tables indicating the percentage of screened pregnancies, types of chromosomal aberrations detected and the occurrence of Down's syndrome in mothers in age groups of five-year intervals are also presented. The average prenatal detection rate for Down's syndrome (estimated at the time of birth) was 15–15 per cent over the years 1978–1984 and was above 22 per cent for the last two years when 44–13 per cent of all pregnancies to mothers of 35 years and over were investigated.