Antenatal diagnosis of haemoglobinopathies, haemophilia, von Willebrand's disease, Duchenne's muscular dystrophy, and chronic granulomatous disease by fetal blood analysis
DeVore, G.R.; Mahoney, M.J.; Hobbins, J.C.
Clinics in Obstetrics and Gynaecology 7(1): 41-72
1980
ISSN/ISBN: 0306-3356 PMID: 6155237 Document Number: 4993
It is estimated that 2 per cent of all children born have some obvious, severe defect of genetic origin which subsequently requires costly or long-term custodial care. For example, one study estimated that 11 per cent of all paediatric hospital admissions were due to genetic disease and another 18.4 per cent were due to congenital malformations of which part were genetic in origin. At the present time, the number of genetic diseases defined and classified is over 3000 and can be grouped according to : (a) chromosomal anomalies; (b) single gene or Mendelian disorders (dominant, recessive and X-linked diseases); and (c) multifactorial disorders (most congenital malformations). When a genetic disease is suspected, the current evaluation involves diagnosis, informative and supportive counselling, and family follow-up observation. Once the genetic defect and its mode of transmission has been defined, the most challenging and difficult task for the genetic- obstetric team is that of in utero diagnosis or exclusion of a particular genetic disease. Twenty-five years ago genetic counselling consisted of reviewing family genealogies and merely predicting the future risk of recurrence for a particular disease. At the present time, however, there are three diagnostic tools available: amniocentesis, ultrasound, and fetal tissue analysis.
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