The importance of preconception tests

Even before couples conceive, however, there are genetic testing methods that provide couples an indication of their likelihood of particular pregnancy outcomes.Preconception genetic testing can help better understand the likelihood of passing an illness on to the unborn child by identifying whether the couples are carriers of a genetic problem. Before getting pregnant, genetic testing can help you know what to expect and provide you some alternatives for what to do.

Dr. Shiva Murarka, Senior Scientist, Reproductive GenomicsWhen planning a pregnancy, genetic testing is specifically done for three major reasons: determining the causes of infertility/Recurrent pregnancy losses, identifying genetic illnesses that are transmissible to offspring, and improving the use of assisted reproductive technologies (ART).

Dr. Shiva Murarka, Senior Scientist, Reproductive Genomics says, “Each person usually has two copies of each gene, one from each of the parents.These genes contain DNA, the instructions for growth and function.The risk of passing a genetic disease from a parent to a baby depends on the inheritance pattern of that particular disease. Some disorders require that both parents are carriers of the child with the disorder. Other conditions may require only one parent to be a carrier in order to be passed on to children.”

Currently, the main genetic tests routinely used for the initial screening work-up are the couple karyotyping, chromosome Y microdeletions as well as sperm DNA fragmentation. Many-a-times, more genetic tests are required to identify the cause of male and/or female infertility and recurrent pregnancy losses as well as identify carriers of inherited diseases.

Preconception Testing solutions like Carrier Screening are available to the couples to screen for over 2,000 genetic disorders, from common diseases such as Hemoglobinopathies (such as sickle cell disease, alpha thalassemia, or beta thalassemia), cystic fibrosis (CFTR), Fragile X syndrome and spinal muscular atrophy (SMA) to more complex conditions such as intellectual disability and congenital heart disease.

Who should opt:
• Individuals or couples who want to know more about their genetic status in order to make more informed reproductive decisions.

• Individuals or couples receiving donor sperm or eggs and who want to select a donor that doesn’t carry the same mutation as the member of the couple who will provide the gametes.

• People with a family history of a genetic disease or from an ethnic background known to be at risk for certain genetic diseases and who are therefore at higher risk of being carriers for those diseases.

• Couples who are already pregnant and who wish to know more about the genetic health of their pregnancy

Benefits:

Because they do not exhibit any signs of the condition, many people who are carriers of genetic disorders might not be aware of it. Knowing the findings of your genetic testing will provide you the chance to receive genetic counseling for that particular condition because the results of genetic testing might show whether you are a carrier for a certain disease and whether there are ways to prevent this through pre-implantation genetic testing (PGT) and reproductive alternatives.

If you or your partner are considered at high risk because they have a family history of a genetic disorder or belong to an ethnic group that is at increased risk for a particular genetic disorder, your doctor will probably recommend testing.