How Can I Learn if I’m a Carrier of a Genetic or Chromosomal Disorder?

All people have genetic variants, tiny typos in DNA coding that affect how a gene works. Some variants have no effect on your health, while others may put your offspring at risk of certain diseases. 

Carrier and karyotype testing can tell you if you’re a carrier of a genetic or chromosomal disorder. Results of your testing can help you plan and prepare for pregnancy so you might lower the chance of genetic problems in your children.

At CARE Fertility in Bedford and Forth Worth, Texas, our team of reproductive endocrinologists and infertility specialists offer preimplantation genetic testing (PGT) of embryos before in vitro fertilization (IVF), helping parents who carry genetic or chromosomal disorders have healthy babies.

In this month’s blog, we explain how you can find out if you’re a carrier of a genetic or chromosomal disorder. 

About genetic and chromosomal disorders

The genes children inherit from their parents provide the coding for what they look like and how their body works. Chromosomes are found in every cell and contain the genes. All cells have the same set of 46 chromosomes, grouped into 23 pairs, with one chromosome from each parent making up each pair.

A genetic disorder is a mutation in a gene that causes inherited conditions like sickle cell disease, cystic fibrosis, and Tay-Sachs disease. Genetic disorders are autosomal recessive, so both parents must carry the gene in order for it to affect offspring.

Chromosomal disorders occur when there’s a change in the structure or number of chromosomes, causing conditions like Down syndrome or Fragile-X. Changes in the chromosomes occur randomly during cell division, and chromosomal disorders aren’t inherited. However, advanced maternal age increases risk of chromosomal abnormalities. 

Carrier and karyotype testing

Genetic testing can determine if you’re a carrier of a genetic disorder or at risk of having a child with a chromosomal problem. There are two types of tests: carrier testing and karyotype testing.

Carrier testing

Carrier screening determines if you carry genes for a genetic disorder. The tests use a sample of blood, saliva, or tissue from inside your cheek to check for specific genetic mutations. Your test is positive if you carry a genetic variant for a disorder. 

Many people wait until they’re pregnant to have carrier testing, but getting tested before pregnancy can help pregnancy planning. 

Karyotype testing

Karyotype testing looks at the size, shape, and number of chromosomes in a sample of cells from your body. 

You may benefit from this testing if you have a family history of genetic or chromosomal disorders. It’s also performed for patients struggling with infertility to determine if chromosomal changes are causing miscarriages or stillbirths.

Karyotype testing also can look for chromosomal abnormalities in a fetus. 

Benefits of knowing

Knowing you’re a carrier for a genetic disorder or at risk of having a baby with a chromosomal disorder may help you in your reproductive planning. You can talk to a genetic counselor about your results, how it might affect future pregnancies, and your reproductive options. 

You may choose to have additional screenings during pregnancy if at risk, such as chorionic villus sampling (CVS) or an amniocentesis to screen for chromosomal and genetic disorders in the fetus. You can also elect to use an egg donor or sperm donor who isn’t a carrier of a genetic disorder to reduce the chances of passing on a disease or disorder to your child.

For our patients undergoing IVF, we offer PGT. For this genetic test, we extract cells from newly formed embryos and send them to the lab to look for genetic and chromosomal disorders. We use the data from the test to select the healthiest embryos for implantation. 

Anyone planning to have children should consider testing for genetic and chromosomal disorders. If you're struggling with infertility, we can talk to you about PGT and how it may improve your chances of pregnancy. To get started, call the office near you or request an appointment online today.