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PGS, PGD – A New Hope for Preventing Thalassemia Major

If you’re considering In Vitro Fertilization (IVF), you’ll have heard references to PGD and PGS. These both are forms of preimplantation genetic testing (PGT) that are vital treatment choices out there for patients undergoing IVF treatments. Preimplantation Genetic Screening (PGS) and Preimplantation Genetic Diagnosis (PGD) are both performed on cells from embryos in the embryology lab, however each of them has completely different purposes and screen for varied genetic issues. PGS screens biopsied cells from the embryo for potential genetic abnormalities once there aren’t known potentially inherited disorders. PGD, on the other hand, uses a same technique to find a particular disorder that includes a high likelihood of being passed down from parents to their baby.

However, majority of the people undergoing fertility treatment will not need to have either of these forms of testing done, PGS or PGD may assist your reproductive endocrinologist in finding healthy embryos to implant in your uterus during the IVF treatment.

PGS And its Usage?

The reasons of miscarriage and for failure of embryos to implant are chromosomal abnormalities such as having too many or too few chromosomes. PGS, is the genetic screening that is used to check whether or not, the cells in an embryo have the correct number of chromosomes.

PGS is usually recommended for people who are starting IVF, patients who have no known genetic abnormalities, as well as the following patients:

  • Women aged 38 or older
  • Couples interested in a single embryo transfer
  • Women with a history of maternity loss or repeated miscarriages
  • Couple with a history of unsuccessful IVF/implantation failure

PGS can be a game-changer as it permits the fertility specialist to transfer only the healthiest embryos, increasing the chances of successful IVF. Five or six embryos are required for the same, which might be difficult, especially for older women with decreased ovarian reserve. There are chances where a woman might require more than one IVF cycle to grow enough embryos for testing.

Although PGS doesn’t check for specific diseases, the procedure can screen for chromosomal abnormalities, such as Down Syndrome. It also identifies chromosomal abnormalities in the embryo, though there’s no known evidence of an inherited abnormality or disease in either parent.

PGD And its Usage?

PGD is performed for genetic testing of an embryo for a particular gene mutation, if one or both biological parents are aware of any kind of genetic abnormality. PGD is important if you or your partner have a history of genetic diseases in your family and you would like to make sure that you are not passing it on to a baby. In several cases, you may be a carrier for a disease without having the disease yourself.

PGD tests for:
  • Translocations of genes (exchange of chromosomal materials or other structural rearrangements), which can cause birth defects, mental retardation, or miscarriage
  • Huntington disease
  • Marfan syndrome
  • Genetic diseases carried on the X chromosome, such as haemophilia or Duchenne muscular dystrophy

PGD is a considerably more complex process than PGS since it examines for individual genes. It is suggested for couples that have a genetic predisposition and/or have any chance of passing down a known genetic abnormality. Any couple with a case history of aneuploidy (abnormal number of chromosomes) which ends in miscarriage, birth defects, or Down Syndrome should be screened. Families that have a history of single-gene defects—such as cystic fibrosis, sickle cell anaemia, and muscular dystrophy—should also consider PGD testing.

The Next Step in Building Your Family

Both PGS and PGD are utilized to examine genetic abnormalities. In modern IVF approaches at the First Step IVF, we recommend screening all embryos to make sure the higher implantation rate and lower rates of miscarriage.

PGD has now become a Hope for Preventing Thalassemia Major.

What is Thalassemia?

Thalassemia is an inherited (genetic) blood disorder that reduces the body’s ability to produce healthy haemoglobin and causes anaemia.

The severity of the disease depends on the number of genes that are affected.

A thalassemia carrier does not have any symptoms or health problem. However, a carrier can pass on the thalassemia gene to their babies.

How will/did my child get Thalassemia?

In order for a child to get thalassemia, both parents must carry the trait for thalassemia. If both parents carry the trait (also known as “thalassemia minor”), there are high chances that the baby will be born with the severe form of the disease known as thalassemia major. People with thalassemia disease require blood transfusions every 4-6 weeks for the rest of their life which is a huge torture for them and the family as well. Sometimes, they even die before reaching adulthood if no proper treatment is given.

Thalassemia has become one of the most prevalent blood disorders around the world and is frequently screened for if couples are carrier of Thalassemia. It is very important to check the thalassemia before the actual pregnancy.

Recent Case of Thalassemia solved at First Step IVF:

The team at First Step IVF, recently solved a very challenging case, in which the intended mother was having Thalassemia Minor and the intended father was having Haemoglobin S trait, also known as sickle cell trait. Both the parents had different defects. In this case PGD was performed and the couple was later blessed with a healthy baby.

This was the first case of such kind which was successfully performed in Centre and West Delhi.

Pre-Implantation Genetic Diagnosis (PGD) in Fertility Treatments

For couples undergoing in vitro fertilization (IVF), pre-implantation genetic diagnosis (PGD) could be a procedure undertaken to screen the embryos for a number of genetic diseases and disorders to make sure the delivery of a healthy baby. Genetic diagnosis helps doctors to spot some genetic defects within the embryo, before the implantation, prior the pregnancy is established.

Genetic diagnosis is often recommended for couples where one or both of the parents are a known carrier of Thalassemia. This procedure will include the screening of few cells from an embryo for genetic abnormalities, thereby avoiding their transfer during the IVF procedure.

If you and your partner are at a risk of having a baby affected by Thalassemia, it is better to choose to conceive using Genetic Diagnosis (PGD). At First Step IVF, we perform this procedure at our own clinic to make sure that only healthy embryos are implanted during the In Vitro Fertilisation (IVF). For more details you can get in touch with our experts at First Step IVF. We are always there to serve you!!


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