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Pre-Implantation Genetic Diagnosis (PGD) for monogenic disorders

What Is Pre-Implantation Genetic Diagnosis (PGD) for Monogenic Disorders?

Introduction

Pre-Implantation Genetic Diagnosis (PGD) is a specialized genetic testing method performed during IVF to detect specific inherited single-gene (monogenic) disorders in embryos before pregnancy.

By identifying embryos free of certain genetic diseases, PGD allows couples with a known risk of passing on a disorder to achieve a healthy pregnancy, giving their child the best start in life.

Understanding Monogenic Disorders

Monogenic disorders are caused by mutations in a single gene. They can be inherited in an autosomal dominant, autosomal recessive, or X-linked manner.
Common examples include:

Cystic Fibrosis
Thalassemia
Sickle Cell Anemia
Duchenne Muscular Dystrophy
Spinal Muscular Atrophy (SMA)
Tay-Sachs Disease
Huntington’s Disease

Couples who are carriers or have a family history of these conditions can benefit greatly from PGD.

Why Choose PGD for Monogenic Disorders?

Prevention of Genetic Diseases: PGD identifies embryos that do not carry the genetic mutation, preventing transmission to the child.
Informed Decision-Making: Couples can make knowledgeable choices about embryo transfer.
Reduced Emotional Burden: Avoids difficult decisions later in pregnancy related to prenatal diagnosis.
Increased IVF Success Rates: Healthy embryos have a better chance of successful implantation and full-term development.

Who Should Consider PGD for Monogenic Disorders?

PGD is highly recommended for:

Couples who are carriers of a known genetic mutation
Individuals with a family history of a specific inherited disorder
Previous pregnancy affected by a genetic condition
Patients undergoing IVF who wish to screen for monogenic disorders proactively

How Does PGD Work?

Genetic Counseling: A detailed family and medical history is taken, and specific genetic tests are recommended.
IVF and Embryo Biopsy: Embryos are created through IVF and biopsied at the blastocyst stage (Day 5 or 6).
Genetic Analysis: Biopsied cells undergo advanced molecular testing (like PCR, NGS) to detect the specific gene mutation.
Embryo Selection: Only embryos free of the disorder (and often those who are not even carriers) are selected for transfer.

The process ensures that the child is not affected by the inherited condition.

What Are the Outcomes of PGD for Monogenic Disorders?

Unaffected Embryos: No copy of the mutation; ideal for transfer.
Carrier Embryos: Carry one copy but are not affected; transfer may be considered based on counseling.
Affected Embryos: Carry two copies of the mutation (recessive disorders) or one copy (dominant/X-linked disorders); usually not selected for transfer.

Benefits of PGD for Monogenic Disorders

Ensures transfer of healthy embryos
Reduces risk of inherited diseases
Minimizes emotional and physical stress during pregnancy
Empowers couples with knowledge and options
Advances family planning for at-risk families

Conclusion

Pre-Implantation Genetic Diagnosis (PGD) for Monogenic Disorders offers a powerful, proactive approach to family building for couples at risk of passing on serious genetic conditions. With modern genetic technology and compassionate counseling, PGD helps ensure that the dream of a healthy child can become a reality.

Interested in learning more or getting tested?

Schedule Your PGD Consultation With Our Genetic Specialists Today!

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