PubMed · 8637358
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H Firth, P A Boyd, P Chamberlain, I Z MacKenzie, S M Huson. 1996-05-18. Limb defects and chorionic villus sampling.. https://pubmed.ncbi.nlm.nih.gov/8637358/
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Prenatal diagnosis and therapy are based mainly on the progress of diagnostic ultrasound and laboratory methods in genetics. There is a general tendency to replace second trimester fetal diagnoses by first trimester approaches. Transvaginal sonography and chorionic villus sampling in particular have been proven helpful in this context. The aim of all prenatal diagnostic measures is fetal therapy in time to prevent untreatable abnormalities. There has been some progress in this area; in particular, the application of stem cells for the correction of single cell diseases seems to be promising. Because all prenatal interventions involve a risk to the mother and especially the fetus, there is a concentrated effort to develop non-invasive screening or diagnostic methods. Extensive work on the isolation of fetal cells from the maternal circulation has revealed that such cells are present physiologically in pregnancy, but further trials need to show whether this method is safe enough for routine diagnostic use.
We have interviewed 83 couples at risk for a haemoglobin disorder, mostly beta-thalassaemia, in an effort to evaluate their attitude towards first-trimester prenatal diagnosis. Most of the families had received poor education and were of low socio-economic status and more than half of the couples were not properly aware of their genetic risk. Fifty-nine per cent of the couples were definitely in favour of prenatal diagnosis, 23 per cent were uncertain at the time of the interview, and 18 per cent were opposed to such testing, because of their religious conviction against termination of a pregnancy. Another important factor which seems to influence choice was the cost of the test. Essential issues that arise from this study include the importance of a control programme adapted to particular populations, proper information and counselling, and the need for financial support in countries such as Lebanon.
Autosomal recessive lamellar ichthyosis (LI) is a rare inherited disease of cornification of the skin. Recently, the gene responsible for type I LI has been identified and mutations have been described. The identification of mutations in families at risk for LI allows a precise and rapid prenatal diagnosis. A family with a previously unreported mutation is described and a prenatal diagnosis based on a simple polymerase chain reaction (PCR) approach is outlined. The molecular diagnosis was confirmed on post-mortem examination of the skin.