Importance of Genetic Counseling Before Conceiving and During Pregnancy
Genetic counseling is a process to evaluate and understand a family's risk of an inherited medical condition. Genetic counseling before conception and during pregnancy involves studying your family’s medical history, making you aware of how genetic conditions are inherited, and providing counseling and support information to help you tackle the situation if the need arises. Prenatal genetic counseling has been gaining popularity amongst couples who wish to gain insights and get screened for genetic disorders during pregnancy or even before conceiving.
Why consult a genetic counselor?
A genetic counselor is a professional with advanced knowledge in the fields of genetics and counseling. Those who are pregnant or are planning to conceive can consult a genetic counselor to learn more about the possible congenital disabilities (abnormalities present from birth) that the newborn may have, considering the family medical history and other relevant factors. The counselor will help you with information on the condition in-depth, the risk factors involved with it, and the available options regarding screening and testing.
In some cases, counselors also suggest alternate treatment routes such as assisted reproduction techniques like PGT (Pre-implantation Genetic Testing) and egg or sperm donation, if necessary, and even termination of pregnancy where the condition is lethal or not compatible with life.
Understanding Genetic Disorders and Testing
Genetic disorders occur due to alterations in one’s genes leading to variant/altered genes. Such a condition may be either denovo or inherited. To help detect any such risk factors, genetic tests are performed on amniotic fluid and chorionic villus tissue as part of prenatal testing.
Some common genetic disorders that a genetic counselor will help make you aware of include:
- Down’s Syndrome
- Cystic fibrosis
- Huntington’s disease
- Neural tube defects
- Muscular dystrophy
- Haemophilia
- Thalassemia
- Fragile X syndrome
Beyond these specific syndromes, certain forms of cancer, heart defects, metabolic conditions, and epilepsy are also considered to be inherited and may be discussed during a session.
Summary of Inherited Conditions and Risks
| Category | Conditions and Factors |
|---|---|
| Common Genetic Disorders | Down’s Syndrome, Cystic fibrosis, Huntington’s disease, Thalassemia, Fragile X syndrome |
| Physical & Neural Defects | Neural tube defects, Muscular dystrophy, heart defects |
| Systemic Inherited Conditions | Certain forms of cancer, metabolic conditions, epilepsy, Haemophilia |
| Testing Methods | Amniotic fluid analysis, chorionic villus tissue testing, PGT |