Discussing the possibility of having genetic diagnosis, genetic tests, pre and post-test genetic counseling, interpretation of genetic tests done, elsewhere.
- Preconception genetic counseling: Couple with a previous affected child with a suspected genetic disorder, or a positive family history. Couples having concerns about their marriage due to a risk of genetic disorder in their prospective offspring.
- Prenatal genetic counseling: This service can be helpful in cases of anomalous fetuses, abnormal aneuploidy screening tests, previous history of an affected child.
- Pre- test genetic counseling: This helps in understanding the specificity and sensitivity and limitation of each test, and guiding the family in choosing the most appropriate test for suspected genetic disorder.
- Post-test genetic counseling: Thorough evaluation and discussion and interpretation of the reports is a crucial aspect of the genetic services
Pre-conceptional or Prenatal genetic counseling is a service provided by Geneticist to assess the risk of genetic diseases by interpreting family medical history. The parents can learn about:
- The estimated risk of a genetic disorder to future child
- Genetic tests which can check for genetic disease
- Requirement of these tests
Genetic counseling is indicated in following conditions:
- Positive family history/affected child– Couples who have family members or children with genetic or birth disorders
- Consanguinity – Risk of autosomal recessive disorders is more
- Outside exposure – Women who were exposed to toxins (poisons)/ infection that can trigger a birth disorder
- Abortion or Infant loss – Couples who have had three or more miscarriages (fetus dies before 20 weeks of pregnancy) or early death of child
- Infertility– No spontaneous conception after marriage
- Ethnicity – People of Southeast Asian or Mediterranean origin, as they may have an increased of having babies with thalassemia (a blood disease)
- Women with abnormal biochemical screening results or abnormal pregnancy ultrasound reports
The test results will
- Provide risk of recurrence
- Offer prenatal invasive genetic testing during pregnancy by either chorionic villous sampling or amniocentesis
- Help to decide about continue the pregnancy when the baby’s problem is lethal