Pre-Pregnancy Screening
Premarital or Preconception Screening helps couples ensure that their future children are not at risk of inheriting genetic disorders. This screening can be done when a hereditary condition is known in the family, when an unidentified genetic issue is suspected, or even as a precaution when there is no family history of genetic disease.
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Based on your medical and family history, our genetic counselor will recommend the most suitable screening method to provide clarity, reassurance, and guidance for your reproductive journey.
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Who Should Consider Screening?
Who is recommended to complete Premarital or Preconception Screening?
- Couples with a known family history of hereditary disease
- Couples who previously had a child with a genetic abnormality
- Couples who are close or distant relatives and have a family history of genetic disorders
- Couples with no known family history but who wish to undergo screening as a preventive measure
Identified Hereditary Disease in Family History:
If a close or distant family member has a known hereditary disorder, other family members may be at increased genetic risk. In such cases, screening is carried out using Mutation Screening to detect whether the couple are carriers of the identified genetic condition.
Unidentified Hereditary Disease in Family History:
When a recessive disorder exists in the family but the responsible gene(s) are unknown, Exome Screening by Next Generation Sequencing is performed on one spouse. This comprehensive test covers all genetic diseases, including autosomal dominant, autosomal recessive, X-linked, mitochondrial, and Y-chromosome-related disorders, both with known and unknown gene mutations. If a mutation is detected, the other spouse undergoes Sanger Sequencing for that specific mutation. If both partners are carriers, IVF with Pre-Implantation Genetic Testing (PGT) is recommended to prevent passing the condition to their child. If only one partner is a carrier, natural conception is considered safe.
No Family History of Inherited Disease:
For couples with no known family history but who wish to undergo premarital or preconception screening, one spouse completes Exome Screening to detect any known mutations. If a mutation is found, the other spouse undergoes Mutation Screening for that specific mutation. If both partners are carriers, IVF with PGT is advised to prevent inheritance of the condition. If only one partner is a carrier, the couple may proceed with natural conception safely.