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Preimplantation Genetic Diagnosis (PGD)

To avert catastrophic genetic illnesses, Ekmi Fertility has provided advanced genetic analysis of embryos, preimplantation genetic diagnosis, for more than a decade.

What Is PGD? 

Preimplantation genetic diagnosis (PGD) is a technique that is used to identify genetic defects in embryos created before pregnancy, through in vitro fertilization (IVF). Preimplantation genetic diagnosis (PGD) refers specifically to when one or both genetic parents has a known genetic abnormality and testing is performed on an embryo to determine if it also carries a genetic abnormality. In contrast, preimplantation genetic screening (PGS) refers to techniques where embryos from presumed chromosomally normal genetic parents are screened for aneuploidy.

Because only unaffected embryos are transferred to the uterus for implantation, preimplantation genetic testing provides an alternative to current postconception diagnostic procedures (ie, amniocentesis or chorionic villus sampling), which are frequently followed by the difficult decision of pregnancy termination, if results are unfavorable. PGD and PGS are presently the only options available for avoiding a high risk of having a child affected with a genetic disease prior to implantation.

What are the Diseases Detectable With PGD?

PGD is used to identify single gene defects such as cystic fibrosis, Tay-Sachs disease, sickle cell anemia, and Huntington disease. In such diseases, the abnormality is detectable with molecular techniques using polymerase chain reaction (PCR) amplification of DNA from a single cell.

The most common single-gene disorders that PGD has been used for are:

  • Cystic fibrosis.
  • Tay-Sachs disease.
  • Spinal muscular atrophy (SMA)
  • Hemophilia.
  • Sickle cell disease.
  • Duchenne muscular dystrophy.
  • Thalassemia.

Can PGD Technology Ensure A Baby Free Of Sickle Cell Disease?

Sickle cell anemia is a genetic condition of the red blood cells that can lead to pain attacks and damage to essential organs, as well as death. For many years, scientists have recognized the genetic basis of sickle cell disease inheritance. However, this genetic knowledge has only lately proved beneficial in assisting families that are known to contain the sickle cell gene in preventing the birth of sickle cell disease-affected infants. Ekmi Fertility in Los Angeles and New York’s sickle cell prevention PGD program comes close to guaranteeing couples that a pregnancy will not result in the delivery of a child with sickle cell disease.

When a person gets two sickle cell genes (one from each parent) or a combination of one sickle cell gene from one parent and any of several different defective hemoglobin genes from the other, sickle cell disease is known to arise. Sickle cell disease is the most frequent genetic illness seen in African infants and maybe the world’s most common inherited disorder. Sickle cell disease or one of its variations affects one percent to two percent of newborns born on the African continent.

The genes underlying sickle-related illnesses emerged as a result of gene mutation during mankind’s evolution. Because sickle genes provide some protection against the hazards of falciparum malaria, these gene anomalies proliferated in locations where malaria was or is prevalent. Sickle cell disease is prevalent among the Bantus in African countries north of the Zambesi River, with prevalence variable but considerable in all other sections of the continent.

A sickle cell disease is passed down from parent to child at the time of conception. When a human egg with a sickle trait is fertilized by sperm with a similar disease, the ensuing new embryo is irrevocably imprinted with the genetic blueprint that will eventually and inevitably manifest itself in the infant as a sickle cell disorder.

Prior to the analysis of embryos, the future mother and father will have blood tests performed by to identify and characterize the type of sickle-related genetic condition they carry. This information is then used to help distinguish between normal embryos resulting from the fresh fertilization and embryos destined to develop a sickle cell disease.

The best doctors and best IVF surrogacy centres linked with Ekmi Fertility will have investigated the embryos and identified those both disease-free and bearing the sickle cell-related condition within a few days of their development. The clinicians then share this crucial genetic information with the parents, allowing them to almost eliminate the risk of a pregnancy carrying a designated sickle-related illness.

Are PGD and Screening Possible With In-Vitro Fertilisation?

In vitro fertilisation provides a one-of-a-kind opportunity to screen the developing embryo for genetic issues. To comprehend the technique of preimplantation genetic diagnosis, one must first comprehend the in vitro fertilisation procedure. In vitro fertilisation is the act of taking the feminine half of a future pregnancy, the egg, and the male half, the sperm, and combining them in a highly specialised and safe laboratory dedicated to this delicate process.

After ovarian stimulation and ovulation triggering, the eggs are surgically collected. Sperm are extracted from a freshly acquired semen sample at the same time as the eggs are collected. Intracytoplasmic sperm injection is the procedure of joining an egg and a single isolated sperm (ICSI). A healthy-looking sperm is injected into the egg in this technique. Because preimplantation genetic diagnosis is so sensitive, any excess sperm present around the egg could skew the results of the exceedingly sensitive genetic tests to be performed on the upcoming pregnancy, the ICSI process is essential. Despite the physical connection of the sperm and the egg at this point, the genetics are still being worked out.

The new unique embryo can be recognised on the first day after the egg retrieval and ICSI technique. These newly produced embryos are nurtured for 5-6 days under 24-hour observation, progressing from cleavage (growing) stage embryos on the third day (4 to 10 cell stage) to blastocyst stage embryos on the sixth day (growing and differentiating, with both a foetal side and a placental side).

Embryo biopsy, or genetic testing of the embryo, can be done at any stage, including from the egg itself via polar body biopsy, at the cleavage stage where one cell can be removed without harming the embryo, and at the blastocyst stage where 10-12 cells can be removed without harming the growing embryo. Please see the diagram below for a representation of the various stages, which include the egg (polar body biopsy), cleavage embryo (Day 3 biopsy), and differentiated blastocyst (Day 5 biopsy). We routinely do biopsies at the blastocyst stage due to better accuracy and survival.

Amniocentesis And PGD

PGD is not a replacement for mid-trimester genetic ultrasonography, amniocentesis, or chorionic villi sampling. Once a successful pregnancy has been established, we recommend additional genetic testing to validate the overall genetic health of the ensuing pregnancy.

If you are facing infertility and looking for the best fertility treatment centre to help you, Ekmi Fertility is the right place for you. You can reach out to us by calling +91-7011-587-880 or email us at


How many diseases can PGD test for?

Preimplantation genetic diagnosis can test for over 400 different single-gene disorders, including cystic fibrosis, sickle cell anemia, Tay-Sachs, and Huntington’s disease.

What is PGD and when is it used?

Pre-implantation genetic diagnosis (PGD) is a laboratory procedure used in conjunction with in vitro fertilization (IVF) to reduce the risk of passing on inherited conditions.

What does PGD mean in fertility?

Preimplantation genetic testing (PGD) is a screening test that can be performed on embryos created via in vitro fertilization (IVF) to genetically analyze the embryos prior to transfer.

When should PGD be used?

PGD is used to identify single gene defects such as cystic fibrosis, Tay-Sachs disease, sickle cell anemia, and Huntington disease. In such diseases, the abnormality is detectable with molecular techniques using polymerase chain reaction (PCR) amplification of DNA from a single cell.

Is PGD safe?

PGD is generally considered a safe procedure. “Many babies have been born after PGD, and their growth and development is similar to children who have not undergone this technique,” says