Pre-Implantation Genetic Diagnosis (PGD) in Fertility Treatments

May 15, 2010

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For couples undergoing in vitro fertilization (IVF), pre-implantation genetic diagnosis (PGD) is a procedure undertaken to screen the embryos for a host of genetic diseases and disorders to ensure the delivery of a healthy baby. PGD helps physicians to identify some genetic defects within the embryo, prior to implantation, before the pregnancy is established. The couple can then decide whether or not they want to continue with the pregnancy. The procedure was first conducted in 1988 and since then this technology is increasingly being used in fertility clinics in the United States.

PGD is normally recommended for couples where one or both of the parents are a known carrier of a genetic disease such as hemophilia. The procedure involves the removal of one or two cells from an embryo which are then screened for genetic abnormalities. PGD identifies the embryos with chromosome abnormalities, thereby avoiding their transfer during an in vitro fertilization procedure. The analysis helps to detect certain inherited or chromosomal diseases such as Down syndrome, Thalassemia, cystic fibrosis, hemophilia A, Tay-Sachs disease, and Turner syndrome among others, prior to implantation.

Most fertility clinics offer PGD in select cases such as:

Women over the age of 35 who have had miscarriages or failed attempts at becoming pregnant through IVF Women who have repeated pregnancy loss due to genetic disorders or who already have one child with a genetic problem Any couple who have been unable to become pregnant through multiple IVF cycles Couples who wish to identify a tissue match for a sick sibling who can be cured with transplanted cells

For couples who are at risk of passing on serious inheritable genetic diseases to their offspring, a diagnosis before embarking on a pregnancy is preferable to medically invasive, emotionally demanding prenatal diagnostic techniques. However couples with genetic disorders should receive adequate counseling about the risks of misdiagnosis and the possibility of no diagnosis before going in for PGD.

East Bay Fertility Center California, offers a wide range of infertility treatments along with expert medical counseling to couples facing difficulty in conceiving. Under the guidance of Dr. Ellen U. Snowden, Medical Director and Reproductive Endocrinologist, medical staff at East Bay provides dedicated treatment for infertility and reproductive endocrine issues.

At the center, PGD is offered as an option to couples who are at high risk of passing on a genetic disease to their children. The Center’s IVF experience and access to advanced genetic testing and counseling holds the promise of increasing the probability of a successful pregnancy outcome from an in vitro fertilization procedure and reducing the incidence of genetic disease. The use of this advanced genetic testing procedure allows only normal embryos to be transferred back into the uterus, providing a much better chance of achieving a full-term pregnancy with chromosomally healthy embryos.

Couples urged to follow doctors’ pre-marital advice

December 24, 2009

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Those who intend to get married should follow their doctor’s instructions to avoid health problems, Pre-marital Screening Committee chairman Dr Ahmed Kamal Naji has said.

“This should be coupled with a sound diet system, physical exercise, observing weight, giving up smoking, decreasing intake of stimulants like tea, coffee, carbonated drinks and sugars for their negative effect on fertility and fetus growth,” he explained.

Dr Naji said couples should never take any medicines without consulting their doctors.
“Women should take folic acid before pregnancy to minimise any deformation to the fetal nervous tube. For women with some types of heart diseases, the case has to be stable before pregnancy for the sake of the mother’s life,” he advised.

He added that during pregnancy, the mother should have appropriate treatment which does not affect the foetus, especially medicines taken for thyroid gland, epilepsy, blood clotting, blood pressure and diabetes. “All these are necessary to avoid any hard and lengthy trouble in the future,” he stressed.

The national pre-marital check-up and counselling programme, which was launched recently, screens would-be couples for potential inherited infections or diseases they could give to their babies, especially in close-blood marriages.

Family marriages play a great role in the infection of inherited diseases caused by recessive inheritance, such as the sickle cell anemia and thalassemia.

Dr Naji said according to the type of the disease, avoidance possibilities can be discussed.

However, he said screening did not include tests that check fertility of any of the couples.

A statement issued recently by the pre-marital screening committee has emphasised that it did not mean that marriages outside the family will guarantee that babies will be free of inherited diseases or even recessive inherited diseases.

“That is why it is important to conduct certain tests to determine if the person is carrying the disease.

Therefore, pre-marital screening is important for relative and non-relative couples,” it says.

The statement explains that the potential infection of congenital diseases among couples of family relationships is higher.

“The closer the relation, the higher is the infection as every individual, regardless of age or health condition, has about 5 -10 defective genes which do not cause any disease for the person carrying them, as he possesses similar genes that are disinfected.”

“When the couple carrying infected genes get married, their children might receive double dose of those genes, that is to say, each of the father and mother gives infected genes. This causes health problems according to the type of the infected gene.”

The Supreme Council of Health has divided the diseases to be screened for into two categories: contagious and inherited diseases.

The purpose of including contagious diseases such as hepatitis B and C, and HIV/Aids is to avoid some of them through treatment or vaccination, or else to warn the other party against potential infection.

Other tests in the premarital screening includes haemoglobin abnormalities (thalassemia and sickle cell anemia), hemophilia (A and B) and syphilis.

“Many of the inherited diseases have no cure, some are difficult to treat and their treatment might be very costly and might require some advice or counselling in addition to other lengthy procedures,” Dr Naji said.

He added that premarital screening has become an appropriate, effective and less expensive tool to combat and prevent inherited diseases, adding that it implied great benefits for the whole society as it protects against inherited diseases which cost much to be cured or treated.

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