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The Gift of Genetic Testing

This time of year families gather to celebrate holiday traditions, think about the year ahead and remember the years gone by. Health and prosperity are top-of-mind for many as they make resolutions for the New Year. Many couples will make life’s most exciting resolution this year–the decision to start a family. While the choice to become a parent can be filled with excitement and exhilaration, some individuals face apprehension and anxiety–knowing that they could pass along genetic diseases to their children. This is where the gift of genetic testing comes in.

Every parent wants a happy, healthy baby. Parents will move mountains to ensure their child’s happiness, but a baby’s health is often a matter of biology and, more specifically, genetics. However, through advancements in modern technology, parents-to-be can opt to undergo genetic testing, prior to getting pregnant, to help minimize the risk of passing on fatal or debilitating inherited diseases. For those who know they are at risk, genetic counseling should be a priority and will help create peace-of-mind. What you learn can save you and, most importantly, your future child from unnecessary healthcare risks and complications.

Preimplantation genetic diagnosis (PGD) & Single gene screening: While there is controversy surrounding genetic testing, for my team, it is solely focused on helping our patients deliver healthy children. Well-validated genetic testing platforms identify the likelihood of passing genetic diseases or disorders (caused by a defect in a single gene) to a child. Most genetic diseases are known as “recessive disorders,” which means that each parent needs to pass along an affected gene to the baby in order for the child to be affected. In other words, if you screen positive for a genetic abnormality but your partner does not, your child will be less likely to inherit the condition.

Some of the more familiar genetic disorders that can be tested for are Tay-Sachs Disease, Cystic Fibrosis, Sickle Cell Anemia and Spinal Muscular Atrophy (SMA). Other conditions are X-linked and are likely to affect boys, such as Hemophilia, Duchenne Muscular Dystrophy and Fragile X Syndrome.

With the use of in vitro fertilization (IVF), couples at risk can test embryos and select the healthiest ones, predicted not to have the genetic disease. This greatly reduces the risk of passing on a potentially-life threatening disease from 25-50% down to less than 1%. Invasive prenatal testing such as chorionic villus sampling or amniocentesis is an option to confirm the safety of the pregnancy.

Comprehensive Chromosome Screening (CCS): High-performing fertility centers, like Reproductive Medicine Associates of New Jersey (RMANJ), routinely utilize comprehensive chromosome screening (CCS), a process that safely screens all 23-pairs of chromosomes in an embryo at the molecular level, to determine which embryos have a balanced number of chromosomes and which have aneuploidy (an unbalanced number). Balanced embryos are more likely to implant and result in a healthy pregnancy and delivery, whereas those with missing or extra chromosomes are more likely to result in miscarriages and abnormal pregnancies. While the risk of having a baby with Down Syndrome is 1 in 100 for a woman who is pregnant at age 40, by testing the embryo in advance, CCS reduces the risk in that same woman to what it is for a healthy fertile woman in her mid-20s, less than 1 in 1000.

With more and more Millennials starting their families later in life, there will be an increasing reliance on IVF and many hopeful parents will need an evidence-based approach to improve the safety and efficacy of their IVF treatments. Although effective treatment for certain genetic conditions may not yet be available, individuals with hopes of starting a family in the New Year can benefit from the gift of genetic screening and test for these conditions before they occur.

 



Dr. Richard T. Scott, Jr.

Dr. Richard T. Scott, Jr. IVI-RMA CEO, a founding partner of Reproductive Medicine Associates of New Jersey (RMANJ), a world renowned leader in reproductive medicine and cutting edge technology. Dr. Scott was also one of the pioneers of IVF and comprehensive chromosome screening.

More authored articles by Dr. Richard T. Scott.