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Preimplantation Genetic Diagnosis (PGD): Process & Benefits

Dr. Pujil Gulati, IVF Specialist with over 13 years of experience in Assisted Reproductive Techniques BabyBloom IVF Gurgaon

February 27, 2025

Introduction

Preimplantation Genetic Diagnosis (PGD) is an advanced reproductive technology used during in vitro fertilization (IVF) to detect genetic disorders in embryos before implantation. It helps couples with a high risk of passing genetic diseases to their children, ensuring that only healthy embryos are selected for transfer.

In this article, we will explore what PGD is, its process, benefits, risks, and who should consider it.

What is Preimplantation Genetic Diagnosis (PGD)?

PGD is a genetic screening technique performed on embryos before implantation to identify any genetic or chromosomal abnormalities. It is commonly used in IVF treatments to increase the chances of a healthy pregnancy.

🔹 Key Points of PGD:

Used to detect single-gene disorders, chromosomal abnormalities, and sex-linked disorders in embryos.
Helps couples with genetic conditions avoid passing them to their offspring.
Conducted on embryos created via IVF before transferring them to the uterus.

PGD Process: Step-by-Step

1. Ovarian Stimulation & Egg Retrieval

The woman undergoes hormonal stimulation to produce multiple eggs.
Eggs are retrieved from the ovaries using a minor surgical procedure.

2. Fertilization via IVF or ICSI

The retrieved eggs are fertilized with sperm in a laboratory using IVF (In Vitro Fertilization) or ICSI (Intracytoplasmic Sperm Injection).

3. Embryo Culture & Growth

The embryos develop in a controlled environment for about 5–6 days until they reach the blastocyst stage.

4. Embryo Biopsy (Cell Extraction)

A few cells are carefully removed from the embryo without damaging it.
These cells are then tested for genetic mutations or chromosomal abnormalities.

5. Genetic Testing & Diagnosis

The extracted cells undergo genetic screening to identify any inherited disorders.
Only genetically healthy embryos are selected for implantation.

6. Embryo Transfer to Uterus

A healthy embryo is implanted into the uterus, increasing the chances of a successful pregnancy.
The remaining healthy embryos can be frozen for future use. Read More:- Frozen Embryo Transfer (FET) Guide.

7. Pregnancy Test

After 10–14 days, a pregnancy test is conducted to confirm implantation success.

Benefits of PGD

1. Reduces the Risk of Genetic Disorders

PGD ensures that only embryos free from inherited genetic diseases are transferred, lowering the risk of conditions such as:

Cystic Fibrosis
Sickle Cell Anemia
Huntington’s Disease
Thalassemia
Tay-Sachs Disease

2. Increases IVF Success Rates

Selecting genetically healthy embryos improves the success rate of IVF treatments and reduces the chances of miscarriage.

3. Prevents Sex-Linked Genetic Disorders

PGD can determine the sex of the embryo, helping to avoid X-linked diseases like Duchenne Muscular Dystrophy and Hemophilia.

4. Helps Couples with Recurrent Miscarriages

Women with a history of recurrent pregnancy loss due to genetic abnormalities can benefit from PGD.

5. Reduces the Need for Pregnancy Termination

Since only healthy embryos are implanted, couples are less likely to face difficult decisions about terminating pregnancies due to genetic conditions.

6. Increases the Chances of a Healthy Baby

By eliminating embryos with genetic disorders, PGD ensures a healthier pregnancy and baby.

Who Should Consider PGD?

✅ Couples with a family history of genetic diseases
✅ Women with recurrent miscarriages
✅ Couples undergoing IVF treatments
✅ Women over 35 years (higher risk of chromosomal abnormalities)
✅ Couples who have had a previous child with a genetic disorder
✅ Individuals who are carriers of inherited diseases

Risks & Limitations of PGD

🚨 1. Ethical & Legal Concerns

Some countries have legal restrictions on sex selection and genetic screening.

🚨 2. Expensive & Not Always Covered by Insurance

PGD is a costly procedure and may not be covered by insurance in many regions.

🚨 3. No Guarantee of Pregnancy

Even with PGD, IVF success rates are not 100% guaranteed.

🚨 4. Possible Embryo Damage

Though rare, the biopsy process can sometimes harm the embryo.

PGD vs. PGT (Preimplantation Genetic Testing)

PGD is often confused with PGT (Preimplantation Genetic Testing). While they are similar, there are key differences:

Feature	PGD	PGT
Purpose	Detects specific genetic diseases	Screens for chromosomal abnormalities
Target Group	Couples with inherited disorders	Women over 35 years & IVF patients
Common Use	Prevents single-gene disorders	Reduces miscarriage risks

Conclusion

Preimplantation Genetic Diagnosis (PGD) is a breakthrough in reproductive medicine that helps couples prevent genetic disorders and improve IVF success rates. While it comes with some risks and ethical concerns, the benefits often outweigh the challenges. OR If you need any information related to IVF, contact our Babybloom IVF Centre or call us at 9266046700 to clear your doubts.

If you are considering PGD, consult a fertility specialist to understand if it is the right option for you.