Advances in Genetic Screening

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When you’re trying to have a baby, you do whatever you can to improve your chances of having a successful pregnancy. For couples struggling with unexplained infertility or recurrent pregnancy loss, newer studies suggest that chromosomal abnormalities in the egg, sperm or embryo may play a more significant role in preventing them from conceiving and carrying a healthy baby.

One of the newest advances in in-vitro fertilization (IVF) that helps increase the success rate of conception and live birth is the ability to screen how many chromosomes are in an embryo. Forty-six chromosomes are needed to have a healthy embryo. Many factors are at play when an embryo has an abnormal number of chromosomes, including a patient’s age. In fact, at least 50 percent of embryos that do not result in a healthy pregnancy have the wrong number of chromosomes.

In the last three years, increasing numbers of couples seeking IVF at The Reproductive Medicine Group are opting for genetic testing before having their embryos implanted.

“We can help stack the cards in a patient’s favor to significantly increase the chances of success,” said Sandy Goodman, M.D. of The Reproductive Medicine Group.

There are two common types of testing: pre implantation genetic screening and pre implantation genetic diagnosis. In pre implantation genetic screening (PGS), the most common type of testing, a biopsy from the embryo is taken to determine if the embryo has the correct number of chromosomes.

“We can eliminate a number of problems when genetic testing is utilized, and that’s why we advise our patients to consider PGS,” added Dr. Goodman. “PGS is especially helpful for women above age 35 trying to conceive through IVF, but there are also many patients, regardless of their age, who choose to have genetic testing to improve their chances of conceiving and carrying a healthy pregnancy to birth.”

Pre implantation genetic diagnosis (PGD) is another type of screening utilized to determine if an embryo has a genetic defect carried by both parents. This information can be discovered on routine pre-conception testing or if a couple has an affected child. Knowing this before implantation can help prevent those defects or diseases from being passed to the child. Would-be parents who are carriers of genetic disorders, such as sickle cell anemia or cystic fibrosis, among others, are candidates for PGD.

When Lisa Ferlita and her husband decided to have their third child, they turned to The Reproductive Medicine Group for pre implantation genetic diagnosis screening to ensure they would be able to have a healthy baby. Their first two children were born with an extremely rare muscle condition called Emardd. In fact, the children are only the fifteenth and sixteenth diagnosed cases in the world. The couple’s first born son passed away at six months, and their daughter, Lucia, now three years old, struggles with the condition. Severely disabled, Lucia requires a ventilator, feeding tube and around the clock nursing care. Through genetic screening, doctors determined that Ferlita and her husband both carry a mutation on the same gene resulting in a significant possibility that a child conceived together would be affected by the disease.

If we know both parents are carriers of a recessive genetic defect or disorder, there is a 25 percent chance that the baby will have the disease,” noted Dr. Goodman. Embryos can be prescreened helping couples to give their child the best opportunity to avoid struggling with a serious health disorder.

In Ferlita’s case, doctors were able to create a probe to look for the specific abnormal gene and screen the embryos to detect the ones that were not affected. Then Ferlita underwent IVF to implant embryos without the abnormal gene. The couple welcomed a healthy baby boy six months ago.

Knowing all options available helps parent-to-be make the decision that’s right for them and their family.

“I think it’s the best and safest option,” Ferlita said of using PGD. “Why not make sure your child is healthy?”

The following video explains genetic or “carrier” screening in greater depth. For more information about genetic screening, please call The Reproductive Medicine Group directly at 813-914-7304 to schedule an appointment.

Genetic screening is also one of the topics discussed at The Reproductive Medicine Group’s “New Beginnings Fertility Conference“.