Genetic Testing for Inheritable Diseases and Pregnancy Loss

doctor shaking hands with patient in waiting room

Inheritable Diseases

Each cell in the human body contains three billion pairs of DNA, organized across 46 chromosomes (23 matching pairs), which together carry the genetic material that makes every individual unique.

You receive genetic material from both of your genetic parents; half from the egg and half from the sperm. The genes determine which features you inherit, such as hair and eye color, blood type, or height, just to name a few. Depending on variations in the genetic code, some changes in DNA can cause inheritable diseases.

If there is a change or mutation in an important “coding region” of a gene that is passed on from one or both parents, the resultant child may express a genetic disease. Cystic Fibrosis and Tay-Sachs disease are examples of inherited diseases that can be passed on from parents to children.

Expanded Carrier Screening (ECS)

Prior to conceiving, many potential parents undergo a blood test called Expanded Carrier Screening (ECS) to determine whether together they are at risk of passing hundreds of diseases onto their children.

The Karyotype Test

If you have had multiple pregnancy losses, or if there is no sperm in your partner’s ejaculation, your physician may recommend that you have a blood test to determine your karyotype. Usually done as a blood test, a karyotype looks at the structure, number, and arrangement of chromosomes found in a sample of cells. This test may also be called a chromosome analysis.

During the karyotype test, blood cells are processed and photographed to determine if there are any missing or extra chromosomes, or if there are any structural changes that could prevent you from getting pregnant or that could cause miscarriages.

Genetic Tests During Pregnancy

Once you are pregnant, there are tests such as Non-Invasive Pre-Natal Testing (NIPT), chorionic villus sampling (CVS), and amniocentesis, all of which are genetic tests that can determine the baby’s health and sex.

The results of genetic testing may be complicated and even emotionally difficult to handle. Patients are encouraged to talk to their fertility doctor or even a genetics counselor about the details of testing.

Dr. Alan Copperman is a board-certified reproductive endocrinologist and infertility specialist with a long history of success in treating infertility and applying fertility preservation technologies. He serves as Medical Director of Progyny, a leading fertility benefits management company, and co-founded and serves as Medical Director of RMA of New York, one of the largest and most prestigious IVF centers in the country. Dr. Copperman is also the Vice Chairman and Director of Infertility for the Icahn School of Medicine at Mount Sinai, and Chief Medical Officer of Sema4, a health information company. Dr. Copperman has been named to New York magazine’s list of Best Doctors 17 years in a row. He has been recognized by his peers and patient advocacy organizations for his commitment to patient-focused and data-driven care. He has published more than 100 original manuscripts and book chapters on reproductive medicine and has co-authored over 300 scientific abstracts on infertility, in vitro fertilization, egg freezing, ovum donation, and reproductive genetics.