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PubMedDate not supplied

Carrier detection and prenatal diagnosis in haemophilia A and B.

Sixty probable carriers of haemophilia from 25 families were studied by using coagulation phenotype and DNA analysis: 33 with haemophilia A and 27 with haemophilia B. Coagulation phenotype was based on factor VIII/IX assay and DNA analysis on the examination of restriction fragment length polymorphisms (RFLPs) within and closely linked to factor VIII or IX: 3 RFLP for factor VIII and 3 for factor IX. The comparison between the coagulation phenotype and RFLP analysis showed the misclassification of 15 females (6 for haemophilia A and 9 for haemophilia B). Four prenatal haemophilia A diagnosis were made by DNA analysis of chorionic villi, taken with a transcervical trophoblastic biopsy, between the 18th and the 11th week.

Chorionic Villi Sampling↗
PubMedDate not supplied

A mixed blessing.

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Chorionic Villi Sampling↗
PubMed1991

[DNA analysis and prenatal diagnosis in cystic fibrosis].

Cystic fibrosis (CF) is the most common autosomal recessive lethal genetic disorder in man, affecting 1 in 2,000 live births. The carrier frequency in Caucasians is 1 in 20. Approximately 70 per cent of the mutations correspond to a specific deletion on chromosome 7 (region 7q31). This delta F 508 mutation of the CF gene results in the loss of phenylalanine at position 508 in the gene product. About 50 per cent of the individuals with CF are homozygous for this deletion and suffer from pancreatic insufficiency. The remaining half are mostly compound heterozygotes between this deletion and another mutation. They exhibit less severe symptoms. Several simple polymerase chain reaction (PCR) tests are available to detect the delta F 508 mutation, allowing rapid prenatal diagnosis of the disease. In those families where other mutations of the CF gene are involved prenatal diagnosis is performed by means of tightly linked restriction fragment length polymorphisms (RFLPs). PCR tests are available for RFLP analysis too. Testing for the delta F 508 deletion, present in about 3 per cent of the normal population, may prove invaluable for extensive carrier screening. Thus, half of the couples at risk could be recognized before the first affected child is born.

Amino Acid Sequence↗
PubMed1990

[Use of molecular and genetic approaches in prenatal diagnosis and prevention of hemophilia A and Duchenne muscular dystrophy].

Allele polymorphism has been evaluated using blot hybridization and a polymerase cascade of DNA synthesis in 40 families at high risk of hemophilia A (a total of 147 subjects) and in 15 families with Duchenne's myodystrophy, Heterozygous carriage of hemophilia A was identified or confirmed in 18 and ruled out in 4 close female relatives of probands. Prenatal tests for fetal hemophilia A were performed in 5 women from families with hemophilia A (in the 1st trimester in 2 and in the 2nd trimester in 3). Four diagnoses of hemophilia A were confirmed and 1 was ruled out. The DNA methods proved revealing in 34 of 40 families with hemophilia A and in 11 of 15 families with Duchenne's myodystrophy. Three of 9 probands were found to have a deletion of the proximal gene for Duchenne's myodystrophy in the DNA probe area of XY 1.1. Prospects of screening for heterozygous carriage and prenatal identification of hemophilia A and Duchenne's myodystrophy are discussed.

Chorionic Villi Sampling↗
PubMed1990

[Obstetrical approach in prenatal diagnosis in the first and second trimester of pregnancy].

From 712 women-patients in Genetic Consultation Department 284 of them were submitted to antenatal diagnostics. The most common indications were old age of pregnant women or a malformed child in the previous pregnancies or in the family. Horion biopsy was done in 118 patients and amniocentesis was performed in the I and II trimester of pregnancy in 188 of them. The fetal loss according to the weeks of pregnancy in the groups, where was done the antenatal diagnostic treatment was not significantly different from horion biopsy was 1.9% and the success of cultivating of horion tissue was 98%. The findings of chromosome analysis were confirmed in all cases.

Amniocentesis↗
PubMed1990

[Possibilities of prenatal diagnosis in hemophilia A based on DNA analysis].

Haemophilia-A is the most common bleeding disorder in man, resulting from a deficiency of the coagulant protein, factor VIII. The factor VIII gene is located at Xq28 and the disease is inherited as an X-linked recessive disorder. There is a possibility using DNA probes closely linked to the gene factor VIII to determine the genotype. The availability of factor VIII DNA probes has led to the detection of carrier females and first trimester prenatal diagnosis of haemophilia-A. The authors give a short account on their experiences with four DNA probes. Their studies were carried out in nine families who have affected individuals and plan another pregnancies in the near future. DNA analysis can allow first trimester prenatal diagnosis from chorionic villi taken at 8-10th weeks of gestation. In the case of a male fetus it is possible to determine whether the mutant gene is inherited or not. Till now seven prenatal diagnoses have been performed based on the chorionic DNA.

Chorionic Villi Sampling↗
PubMed1990

[Prenatal diagnosis of triploidy].

In two pregnant women the diagnosis fetal triploidy was made by transabdominal villous biopsy at 20 and 21 weeks. Chromosomal analysis revealed a 69, XXX respectively 69, XXY karyotype. The diagnosis was suspected because of fetal growth retardation and a large vesicular placenta on sonographic examination. One patient had bilateral multilocular ovarian cysts. She had an eclamptic seizure at 22 weeks. In both patients labour was induced by intravenous prostaglandins. One fetus had a small spina bifida, the other fetus had no congenital malformations. Microscopy of both placentas showed a partial mole. A short description is given of the abnormalities associated with triploidy.

Adult↗
PubMed1990

[Women's experience of chorionic villi biopsy and its significance for the course of pregnancy. A qualitative study].

Twenty-nine pregnant women and their families were questioned about how they experienced chorion villus biopsy in order to illustrate the significance of the test for the pregnancy. Semistructured interviews were carried out immediately after the test, one week later when the result was available and at ultrasonic scanning at the 18th-20th weeks of pregnancy, and these results form the basis for this study. One woman had a foetus with Down's syndrome. The remaining foetuses had normal chromosomes. The main interpretation of early foetal diagnosis and of a living foetus was positive. For the pregnant woman and her family, the main advantages were that the time of waiting for the result was reduced (as compared to the waiting time following amniocentesis) the psychological relief that the investigation can be performed early in pregnancy and that a possible termination could take place under full anaesthesia.

Adult↗