Individualized blood testing includes genetic screening for Hispanics
Dr. Joel Batzofin brings attention to the benefits of genetic screening during the early phases of fertility assessments. When couples have experienced infertility, they understandably will take every reasonable measure to get pregnant and to protect the health of their children. Preconception testing is an invaluable tool for determining potential risk factors prior to becoming pregnant when the door is still open for preventive measures.
Every man and woman, regardless of race or ethnicity, is a good candidate for preconception testing. Your family history, however, can increase your risk for having an inheritable disorder. For example, people of Mediterranean descent are more likely to have a genetic disorder called Thalassemia and African Americans are prone to sickle cell disease.
Our genetic screening for Hispanics will address a concern about cystic fibrosis, SMA, Beta-Thalassemia Major and sickle cell.
The preconception test that Dr. Batzofin orders will focus on life-altering diseases, a list recommended by the American Congress of Obstetricians and Gynecologists (ACOG). One of those diseases, more prevalent in the Caucasian and Hispanic populations, is cystic fibrosis. CF is a disease caused by a defective gene that impacts the lungs, pancreas and other organs. People with CF produce excessive amounts of mucus, making it increasingly difficult to breathe and properly digest foods.
Another disease that we test for on the panel, spinal muscular atrophy (SMA), affects voluntary muscle movement for breathing, swallowing and walking. There is no cure for CF or SMA. One in 46 people of Hispanic origin is a carrier of the CF gene; one in 68 will have the spinal muscular atrophy (SMA) gene mutation.
Because we live in a global society, men and women are more likely than ever to have a diverse ethnic background, and so we gravitate toward multi-ethnic carrier screening.
The benefits of having genetic screening for Hispanics and other patient populations
Giving men and women reproductive options is an underlying goal of the entire team at our New York fertility center. We will test one partner first, and then proceed to the second partner if we find a gene mutation. When a couple learns that they are both carriers of an autosomal recessive disorder, they can anticipate the odds for having an affected child.
- There is a 25% chance that the baby will have the active form of the disease.
- There is a 50% chance that the baby will have just one gene in the pair that is affected, and he or she will be a symptomless carrier.
- There is a 25% chance that the baby will not inherit an affected gene at all.
Dr. Batzofin will discuss the options for having preimplantation genetic diagnosis, PGD, in conjunction with IVF. We can biopsy embryos without disturbing the cellular mass that will become the fetus. A sample of cells will reveal whether or not the embryo is affected by the genetic mutation. The couple then has the option to transfer only unaffected embryos.
A genetic screening test, IVF lab test at New York Fertility Services and genetic counseling can prepare couples to make sound decisions that bring peace of mind. If you would like more information on genetic screening for Hispanics, please contact us, and watch for news of genetic screening events at our New York fertility center.