As the researchers discovered several markers of malformations in embryos, and that newer technology will bring better opportunities to diagnose development defects in unborn fetus, increasing the need for genetic counseling.
The purpose of fosterdiagnostik (both with biochemical / genetic markers and image dunder studies) and genetic counseling is to help the pregnant woman to make choices about the fate of the fetus, ie. possibly. abortion, within the framework of Danish law. This must be done by the adviser provides information that is neutral, based on the calculated risks of the research carried out. Information must be given in a way that women can understand them and so that they respect women baggru
It must be stressed that the calculated risk is a number, and that it therefore can not determine an illness or absence of such in the fetus, and that the vast majority of children are born healthy. There must also be informed that there are not examined for any diseases, and that tests'ene not always catch the disease, testing for, which is precisely the basis for the existence of risk calculations.
A genetic counseling should also include a familieanamnese, ie. a report on possible. former hereditary diseases in the family or genetic defects and mental retardation in the family. Did the woman had previous abortions, or is she in the family with the father (or on the way there are kinship ties between the woman's husband or parents).
Some of the hereditary diseases, which are investigated, may be relatively easy to calculate probabilities and possibly. exclude. These are some of the diseases that follow the classic Mendelian Inheritance monogene times (see genetics). These include on:
- Cystic fibrosis.
- Duchenne muscular dystrophy and
- Hunting's chorea.
These are tied to a single gene or chromosome. Cystic fibrosis isautosomalt ressecivthereditary, ie. if only one parent carries the gene, the child can not get the disease (50% risk of the child are healthy carrier of the gene). But if both parents are carriers, there are 25% risk that the child will be sick (50% risk that it will be healthy carrier, and 25% of it will not carry the disease).
Duchenne muscular dystrophyis tied to the female sex chromosome - X chromosome, and is ressecivt. Because men have only one X chromosome, a man could not be healthy carrier, but will have the disease if he has inherited from the mother.
Huntington's Coreaalso said that autosomalt ressecivt be hereditary, ie. it will largely be an inheritance ascystic fibrosis, With the difference that the onset of the disease varies. Huntington's Corea therefore considered as autosomal recessive, although some individual avoid being sick, even if they have the disease in both copies of the gene responsible (they arehomozygotefor the disease). Some bleeding disorders have similar inheritance times.
Other diseases have an even smaller inheritance, and it can not be based on the classic inheritance tables calculate the normal Mendelian probabilities. In addition, there may be new genetic defects, or develop defects, which are not part of parents. Therefore offered the pregnant woman a variety of studies during pregnancy, which may provide a risk assessment of any anomalies. These include about Down's syndrome and rygmarvsbrok.
The risk of developing defects increased by competing suffering of the mother. These include Second on diabetes in the mother, alcoholism, drug addiction or some medications.