Sheldon Reed, a geneticist at the University of Minnesota, coined the expression 'Genetic counselling' in 1947 and described it as a kind of genetic social work. Till the mid 1960s, genetic counselling was available in only a few speciality clinics. But in 1967, after the usage of amniocentesis for the first time, genetic counselling was offered in many hospitals and speciality clinics.
Genetic tests are done by using small samples of blood or by body tissues. Geneticists carry out tests to analyse whether the mother or the father or the unborn baby carry defective genes and chromosomes for certain inherited diseases. Genetic tests can reveal the presence, absence or mutation of genes and chromosomes. Genetic counsellors help to identify and interpret the probability of an inherited disorder and suggest the options available as to how to deal with the problem. Genetic counsellors are usually doctors with professional training in medical genetics and counselling.
Genetic counselling is essential if an individual suffers from any of the following risk factors:
- If either parents or a close relative suffers from any genetic disorder.
- If either parents already have children with genetic disorders.
- If the mother- to- be has a history of repeated miscarriages.
- If the mother has had babies who have died in infancy.
- If the mother-to-be is over 35 years of age, as it increases the chances of having a baby with Down's syndrome.
- If a standard prenatal test shows any abnormality.
- If an amniocentesis reveals any abnormality.
When a couple is expecting a baby and their pedigree analysis show that both are probable carriers of a serious genetic disorder, the pregnancy is referred to as high risk pregnancy. The child born is at high risk to inherit the disorder. A mother-to-be with a high risk pregnancy is advised to undergo amniocentesis.
Amniocentesis is a medical procedure, usually carried out during the sixteenth week of pregnancy, for the diagnosis of congenital abnormalities in the foetus, before birth. A sterilized surgical needle is inserted through the abdominal wall of the mother to withdraw 10 to 15 cm3 of amniotic fluid surrounding the foetus. The embryonic cells in the fluid are cultured to study any gene or chromosomal defect. The fluid is also analysed for certain bio-chemical substances that indicates specific disorders in the foetus.
If genetic tests reveal defects in the foetus, the options available to the mother may include:
- Abortion to end the pregnancy.
- To continue with the pregnancy and prepare herself to face the challenges of bringing up a baby with genetic disorder.
- Foetal surgery to repair the defect, wherever applicable and if medically recommended.
If a prospective mother has learnt before conception that she or her partner is at high risk of having a baby with genetic disorders, then her options may include:
- Using donor egg or donor sperm
- Pre- implantation diagnosis
In this procedure, the eggs are fertilized outside the womb. The fertilized eggs are screened for genetic defects at the eight-cell or blastocyst stage. The normal blastocysts are then implanted in the womb to establish pregnancy
- Not to have a baby
- Adoption