Who is a genetic counsellor?
A genetic counsellor can guide a couple planning pregnancy through genetic information that can identify any genetic concerns in a pregnancy. With a the help of a counsellor, a couple can find out if there is a need for specific genetic tests or screenings, and also make important decisions in case there is a risk of having a baby with a genetic defect or birth disorder.
Genetic counselling becomes especially important if a hereditary condition has been found to be present in either partner’s family.
Certain conditions that are present in a family can be passed down to the future generations. Discussing its possibility with a genetic counsellor helps a couple understand their risk factors and is important information that could prepare them to make informed choices during pregnancy.
When to see a genetic counsellor
So, when does a visit to a genetic counsellor become essential? A couple should consider genetic counselling if:
- The either partner’s family has a history of an inherited disorder.
- Either partner belongs to an ethnic group that has a higher risk of certain genetic disorders.
- The couple already has a child with a genetic disease, birth defect or mental retardation.
- The woman partner is above 35 years of age.
- There have been three or more miscarriages previously or an early death of a new-born.
The importance of genetic counselling can only be summarised by the fact that the body has 25,000 genes, and an alteration of DNA in any one of them can create a serious genetic condition.
What happens in genetic counselling?
Genetic counselling begins with a discussion of medical histories of each partner, their families (up to three generations) and any past pregnancies. Based on the details, the genetic counsellor looks at inheritance patterns and risks of disorders in the couple and chances of a future baby with the disorders.
A child inherits some disorders like Huntington’s disease if any one of the parents has the abnormal gene for it. There are other conditions that may be present in parents in recessive form, only activating in a future child if the latter receives defective genes from both parents. Such disorders include sickle-cell anaemia, cystic fibrosis, Tay-Sachs disease, etc.
The most common pre-pregnancy method of checking for risk of having a baby with a recessive genetic disorder is carrier testing.
If either partner is a carrier of a genetic disease, s/he will not show symptoms and is not affected by the disease. However, the risk factor for a future baby for that disorder increases if the other partner is also a carrier of the same disease.
A third type of genetic disorder is not inherited, but results from a cell division error or gene mutation in the early weeks of foetal development.
What happens in case there is a high risk of a genetic disorder?
If a couple finds out that there is a high risk of having a child with a genetic defect, the following may be done:
- Post-fertilisation testing – In vitro fertilised egg can be tested for defects at the early eight-cell stage, and only normal embryos are implanted in the uterus.
- Using sperm or egg from a donor.
- Undergoing prenatal screening tests during pregnancy.
- Going ahead despite risks and having the child.
- Opting for adoption.
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“Genetic Counseling & Testing,” ChildbirthConnection.org, National Partnership for Women & Families, https://www.childbirthconnection.org/article.asp?ck=10310
“Genetic Counseling,” KidsHealth.org, https://kidshealth.org/parent/system/medical/genetic_counseling.html#
“Pre-pregnancy Counselling,” Patient.co.uk, https://www.patient.co.uk/doctor/pre-pregnancy-counselling
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