Is Pre-implantation Genetic Screening (PGS) right for you?

At the first fertility consultation, your doctor will administer a range of standard fertility tests, evaluating sperm count and egg reserves to scanning the female reproductive tract and checking hormone levels. However, what should also be considered are the potential genetic markers for common birth defects that you and your partner may be carrying. Below are some reasons that necessitate Preconception Genetic Screening for couples.

A Preconception Genetic Screening can provide important information about your fertility

The sperm and the egg each carry one-half of the contributing parent’s DNA. These DNA strands join together to generate the genetic code that makes the resulting baby its unique self. In some cases, the mother may be a carrier for a genetic disorder, even though she does not have the disorder yourself or may only have mild symptoms of the disorder that have never caused any real problems. If, however, the partner is also a carrier for that same genetic disorder, the chances of having a baby with that disorder increases significantly.

When both partners test positive for a particular genetic disorder, there is a 25% chance their child will be born with the disorder. The chance that any subsequent child will have the same disorder is the same.

If it is known in advance that the one or both parties have genetic markers for a particular genetic disorder, your doctor may adjust the fertility treatment plan accordingly. It could mean using Preimplantation Genetic Diagnosis (PGD) before embryo transfer, to minimize the risk of transferring an embryo that has a genetic disorder.

The large majority of genetic disorders are recessive, which means both the mother and the father must have the gene in order for the child to have the disorder. For this reason, we typically screen the mother first. If she is a carrier for one or more disorders, we will then screen the father for those specific markers, and we base the fertility treatment plan on his results.

You, a biological child and/or your family has a history of a genetic disorder

If you, your partner, a biological child or any family members have been diagnosed with a genetic disorder, it’s important to get screened. While you may not pass your own genetic disorder on to your child, there are strong chances that you will have a child with the same disorder if your partner is a carrier.

You don’t know your family history

In many cases, you may not know your family history. There may have been a case of a genetic disorder and this fact has sort of faded through the family narrative over time. If your family history is more or less a mystery, or there seem to have been young deaths, heavy miscarriage rates or babies that died young for no apparent reason, it’s worth getting screened in case a genetic disorder was the cause.

Your ethnicity can put you at risk

It seems that no ethnicity is free of a potential genetic disorder. Caucasians are prone to cystic fibrosis, Ashkenazi Jews are more likely to develop Tay-Sachs disease, African-Americans are more likely to carry the genetic marker for sickle cell anemia, and those of Mediterranean or Southeast Asian descent have a higher risk of carrying the genetic marker for a disease called thalassemia. Being aware that you are a carrier ahead of time can increase your chances of fertility treatment success because your doctor will know what to look for and diagnose the best course of treatment.