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Results for “prenatal testing”

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At least 127 records · Page 7Linked to original sources
PubMed1986

Application of a closely linked polymorphism of restriction fragment length to counselling and prenatal testing in families with myotonic dystrophy.

The close genetic linkage between the loci for apolipoprotein CII (ApoC2) and myotonic dystrophy makes ApoC2 the closest fully validated marker for prediction of myotonic dystrophy. Application to genetic counselling and presymptomatic and prenatal prediction is reported in seven families with myotonic dystrophy, including one case in which the disorder was excluded prenatally. Only one of the families did not have members with ApoC2 genotypes that allowed prediction, but careful clinical study of older family members was found to be an important factor. ApoC2 typing of families with myotonic dystrophy should be of practical help both in prediction for asymptomatic relatives and for prenatal diagnosis in pregnancies of an affected parent.

Adult↗
PubMed1996

Diagnostic, predictive, and prenatal testing for facioscapulohumeral muscular dystrophy: diagnostic approach for sporadic and familial cases.

Facioscapulohumeral muscular dystrophy (FSHD) is one of the common inherited neuromuscular disorders. The major gene involved, FSHD1, has been localised to chromosome 4q35. This 4q35 locus, detected by pE13-11 (D4F104S1), shows a mutation frequency of about 10% of the incidence. New mutants are characterised by de novo deletions of tens to hundreds of kilobases of DNA. Although these deletion fragments are very useful as a molecular genetic tool, their use in diagnostic DNA testing is hampered by multiple factors, particularly in familial cases. In this report we describe a protocol that can be used for DNA testing in well defined familial cases or proven de novo cases, and in the differential diagnosis of muscular dystrophy patients clinically suspected of having FSHD. In addition, we describe a prenatal diagnosis performed for FSHD1.

DNA↗
PubMed1980

Polyacrylamide gel electrophoresis of amniotic fluid cholinesterases: a good prenatal test for neural tube defects.

The qualitative assay of the cholinesterases (ChE) in amniotic fluid on polyacrylamide gel gave a single major band (cholinesterase) in all samples from normal pregnancies, and two major bands (cholinesterase and acetylcholinesterase) in all cases from fetuses with open neural tube defects. Five fluids which were true false positive on alpha-fetoprotein (AFP) assay (elevated AFP in a clear fluid but normal fetus) had a single band, and two fluids which were false negative on AFP testing (normal AFP but spina bifida fetus) had two bands. The second 'diagnostic' ChE band sometimes occurred, together with other extra bands, in some fluids which were very severely contaminated by maternal or fetal blood, but in four of six fluids from normal fetuses where fetal blood staining was sufficient to cause the AFP to be elevated, there was only one ChE band. It is suggested that the qualitative assay of ChE should be performed in addition to AFP in the prenatal diagnosis of neural tube defects.

Amniotic Fluid↗