What Is Preimplantation Genetic Diagnosis (PGD)?  

Feb 5, 2025

Fertility

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Preimplantation Genetic Diagnosis (PGD) is an assisted reproductive technology (ART) that involves creating embryos through IVF and testing them for chromosomal or genetic abnormalities before implantation.  

PGD is primarily used for couples with a known genetic disorder, allowing them to prevent passing the condition to their child. By identifying the genetic status of each embryo, only embryos without the targeted abnormality are selected for transfer into the uterus.  

 What Genetic Abnormalities Can PGD Detect?  

PGD can identify various genetic and chromosomal disorders, including:  

- Aneuploidies – Abnormal chromosome numbers (e.g., Down syndrome, Turner syndrome).  

- Chromosomal structural abnormalities – Translocations (where parts of chromosomes swap places).  

- Deletions and gene mutations – Missing genetic material that may lead to disease.  

- Specific genetic disorders – PGD can detect inherited diseases like:  

  - Thalassemia  

  - Cystic fibrosis  

  - Sickle cell disease  

  - Tay-Sachs disease  

By screening embryos before implantation, PGD helps improve reproductive outcomes for at-risk couples.

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