PubMed Health⌕ Search

Biomedical subjects

S Blunt

Publications and source records attributed to S Blunt.

30 records · Page 2Linked to original sources
PubMed1979

Tissue typing amniotic fluid cells: potential use for detection of contaminating maternal cells.

The presence of contaminating maternal cells in amniotic fluid is an important, though infrequent, cause of error in karyotyping the fetus. A method of detecting contaminating maternal cells in amniocentesis specimens by determining the HLA phenotype of the cells of amniotic fluid and the mother is described. Tissue typing of 15 amniocentesis specimens was performed, and in 14 cases the fetal origin of the cells was established. In one case, the results of tissue typing suggested maternal cell contamination, though this had not been suspected from chromosome studies of the amniotic fluid cell cultures. Other possible uses for tissue typing of amniotic fluid specimens for prenatal diagnosis are also described.

Amniotic Fluid↗
PubMed1979

Sixteen years' experience of counselling, diagnosis, and prenatal detection in one genetic centre: progress, results, and problems.

The work of one Genetic Centre over 16 years, covering about 14 000 kinships, is described. The numbers registered in a year increased from an average of 477 in the early 1960s to 1612 in 1976/1977. The increase is largely, but not entirely, attributable to the advent of prenatal diagnosis, and an account is given of our experience with this. In 1916 patients who had a successful amniocentesis, results indicative of fetal abnormality were found in 4.3% and a balanced translocation was found in an additional 0.9%. Results indicative of fetal abnormality were found in 3.5% of mothers referred because of a maternal age of 40 or more, 3.9% referred because of a high risk of neural tube defect, and 19.3% referred because of a high risk of an inborn error of metabolism. A number of cases with difficult diagnostic problems are described.

Amniocentesis↗
PubMed1977

Prenatal recognition of 4p- syndrome.

A fetus with the rare 4p- syndrome was detected by chromosome analysis of amniotic cell culture, and the pregnancy terminated. The fetus showed a number of the physical stigmata of the syndrome.

Abnormalities, Multiple↗
PubMed1976

Amniotic cell 4-methylumbelliferyl-alpha-glucosidase activity for prenatal diagnosis of Pompe's disease.

Using a simple fluorometric assay for alpha-glucosidase activity of cultured amniotic cells, we have monitored two pregnancies from families at risk for Pompe's disease. The fetus was judged to be affected in one, the pregnancy being terminated and unaffected in the other. The accuracy of these predictions was confirmed. These results suggest that this assay allows accurate prenatal diagnosis of Pompe's disease, three weeks after diagnostic amniocentesis.

Amniotic Fluid↗
PubMed1974

Prenatal diagnosis of galactosaemia.

We have monitored two pregnancies from families at risk for galactosaemia. The fetus was diagnosed as having galactosaemia in one and to be unaffected in the other. The accuracy of the predictions was confirmed postnatally. Assays for galactose 1-phosphate uridyl transferase involving the reduction of the coenzymes NAD or NADP are unsuitable for amniotic cells whereas estimation of (14)C-UDP-galactose produced from (14)C-galactose 1-phosphate detected the homozygous mutant fetus.

Amniocentesis↗
PubMedDate not supplied

Fetoscopy and fetal blood sampling in the management of a twin pregnancy with 45,X/46,XX amniotic fluid cell mosaicism and a suspected fluid sampling error.

A 37 year-old woman with a twin pregnancy underwent amniocentesis to exclude fetal chromosome abnormality. The results indicated that both fetuses were mosaics, with 45,X and 46,XX, cell lines. Since it was suspected from the ultrasound scan that the twins were dizygotic, the result was questioned. Fetoscopy and fetal blood sampling were performed and karyotyping the fetal lymphocytes confirmed that one twin was indeed a mosaic, 45,X/46,XX, but the other had a normal male chromosome complement. The pregnancy resulted in the birth of a phenotypically normal girl, in whom the 45,X/46,XX mosaicism was confirmed, and a normal boy.

Adult↗