Kiran Ivf Macherla

Pre-implantation Genetic Diagnosis (PGD)

Pre-implantation Genetic Diagnosis (PGD) is an advanced technique used to study the chromosomal and genetic makeup of embryos before they are transferred into the uterus. It works similarly to prenatal genetic testing, but the key difference is that PGD helps identify genetic problems before pregnancy begins. This allows couples with known genetic risks to prevent passing these conditions to their child.

PGD is performed as part of an IVF cycle, since embryos need to be created in the laboratory for testing. A few cells are safely taken from the embryo, usually at the blastocyst stage (Day 5–6), as this method is gentler and has shown better embryo survival.

Understanding Pre-implantation Stage

In humans, implantation happens when a fertilized egg (now called a blastocyst) attaches to the uterine wall. At this point, it begins receiving nutrients and oxygen from the mother.
PGD is performed before this stage — hence the term pre-implantation.

Pre-implantation Genetic Screening (PGS / Aneuploidy Screening)

PGS, also known as aneuploidy screening, checks whether the embryo has the correct number of chromosomes. Chromosomal abnormalities are a major cause of implantation failure and miscarriage. Through PGS, embryos with normal chromosome numbers can be selected for transfer, improving the chances of a healthy pregnancy.

What Does PGD Test For?

PGD focuses on detecting specific genetic disorders, especially in couples with:

  • A known family history of a genetic disease
  • Previous pregnancies affected by genetic or chromosomal abnormalities
  • Carriers of inherited conditions

PGD can help identify embryos affected by monogenic (single-gene) disorders such as:

Common Autosomal Recessive Disorders

  • Cystic fibrosis
  • Beta-thalassemia
  • Sickle cell disease
  • Spinal muscular atrophy (SMA Type 1)

Autosomal Dominant Disorders

  • Huntington’s disease
  • Myotonic dystrophy
  • Charcot–Marie–Tooth disease

X-Linked Disorders

  • Fragile X syndrome
  • Hemophilia A
  • Duchenne muscular dystrophy

PGD enables the selection of healthy embryos free of these mutations, reducing the risk of affected offspring.

PGD for Infertile Couples

Couples undergoing IVF who also carry an inherited condition often opt for PGD because it can be seamlessly integrated into their treatment plan at Kiran Infertility Center, Marichela.

Does PGD Improve Pregnancy Chances?

A related concept, Pre-implantation Genetic Profiling (PGP), attempts to assess embryo quality by sampling a single cell. However, because of natural mosaicism (different cells may have different genetic makeups), results from a single cell may not always represent the entire embryo.

While PGD and PGS can help in selecting the healthiest embryos, they do not guarantee pregnancy but can significantly reduce the chance of genetic abnormalities.

Important Legal Disclaimer

As per Indian law, PGD/PGS cannot be used for gender determination.
Kiran Infertility Center strictly follows all national regulations and does not perform gender selection under any circumstances.

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