Premarital or Preconception Screening
Premarital or Preconception Screening is a service for couples who want to ensure that their children will not be at risk of inheriting a genetic disease. Screening may be completed if there is a known hereditary disease in the couple’s family history, if there is an unidentified hereditary disease in the couple’s family history or if there is no family history for hereditary disease and testing is used as an extra precaution. Depending on the couple’s family history, a genetic counselor will recommend the genetic screening tool best fit for the couple.
Who is recommended to complete Premarital or Preconception Screening?
- Couples in which either spouse has a family history of hereditary disease
- Couples who previously had a genetically abnormal child
- Couples who are close or distant relatives and know of a family history for genetic disease
- Couples with no known family history for genetic disease and who would like to complete screening as an extra precaution
Methods of Premarital and Preconception Screening:
- Identified heredity disease in family history: If a distant or close family member is affected by a hereditary disorder, this serves as an indicator to other family members that they are at increased genetic risk. When the hereditary disease present in the family history has been previously identified, screening is completed through Mutation Screening.
- Unidentified hereditary disease in family history : When a recessive disorder without an identified gene(s) is existing in a family, Exome Screening by Next Generation Sequencing is completed on one spouse, covering all genetic diseases, (autosomal dominant, autosomal recessive, x-linked, mitochondrial and Y-chromosome related disorders) including those with known gene(s) and those without a known gene. If a mutation is found, their partner will complete Sanger Sequencing on only the same mutation. If both spouses are found to be carriers of the mutation, IVF with PGD will be recommended to couple in order to avoid passing on the condition to their offspring. If one spouse is found to be a carrier while the other is not, the couple may safely pursue natural conception.
- No family history of inherited disease : In cases where an individual or couple has no family history of genetic disease and would like to undergo premarital screening, the process is as follows: one spouse will complete Exome Screening in order to determine if they are carriers of a documented mutation. If the spouse is found to be a carrier, their partner will complete Mutation Screening on only the same mutation. If both spouses are found to be carriers of the mutation, IVF with PGD will be recommended to couple in order to avoid passing on the condition to their offspring. If one spouse is found to be a carrier while the other is not, the couple may safely pursue natural conception.
To discuss your medical history with a geneticist or physician, book an appointment at Fakih IVF Fertility Center today.