Reproductive genetic screening includes a number of tests that can either identify the likelihood of you passing a genetic condition on to a child or that of a current pregnancy being impacted by one. Genetic testing can provide valuable information for individuals and families, but it is important to understand the potential benefits, risks, and limitations of these tests. It is recommended that individuals considering genetic testing consult with a healthcare professional or genetic counselor to discuss their options and make informed decisions.
What Is Reproductive Genetic Screening?
Genetic testing for reproductive purposes can help people evaluate their chances of having a child with a genetic disorder, before or during pregnancy. These optional tests can help a family make more well-informed family planning decisions, prepare for appropriate treatments for their children, increase the likelihood of successful pregnancies, and provide peace of mind for those with a higher risk of passing on genetic conditions.
Why Consider Genetic Screening Before Pregnancy?
Although genetic carrier screening can be performed during pregnancy, it offers even greater value when done as part of preconception planning. It helps couples understand their risk of passing on certain genetic conditions, giving them the opportunity to make thoughtful, informed choices about their reproductive options. Depending on the results, some may consider alternative paths to parenthood, such as in vitro fertilization (IVF) or use of an egg donor.
Carrier testing might target a specific genetic condition if there’s a known family history. In contrast, expanded carrier screening checks for a broader range of genetic disorders—regardless of ethnicity or family background.
Who Should Get Genetic Screening?
Couples who are considering becoming pregnant, undergoing fertility treatments, or who have become pregnant are encouraged to consider reproductive genetic screening since genetic conditions can be present even if there’s no known family history. The American College of Obstetricians and Gynecologists (ACOG) recommends that providers offer noninvasive prenatal testing (NIPT) to all pregnant women, regardless of risk.
Genetic screening is especially beneficial for couples with a family history of genetic disorders, pregnant women over the age of 35, and those from ethnic groups with a higher prevalence of specific genetic conditions. For instance, people of Ashkenazi Jewish descent have a higher chance of being carriers for Tay-Sachs disease, while individuals of African American ancestry may be more likely to carry the gene for sickle cell disease.
Types of Reproductive Genetic Tests
Reproductive genetic testing can provide insights into the genetic health of individuals, embryos, and developing babies. Test options can include carrier screening, prenatal screening, and preimplantation genetic testing (PGT).
Carrier screening is a genetic test that identifies whether a person carries a gene change that could lead to an inherited health condition in their children. Many genetic conditions can be present even if there’s no known family history, so screening is often offered to individuals or couples planning a pregnancy—or early in pregnancy itself.
Prenatal screening tests are those performed during pregnancy to check if the baby might be at risk for certain genetic conditions. Some common types of prenatal screening include: non-invasive prenatal testing (NIPT), which tests the mother’s blood for chromosomal abnormalities, and chorionic villus sampling, which tests a sample of the placenta and amniocentesis, which tests the amniotic fluid.
Preimplantation Genetic Testing (PGT) is used during in vitro fertilization to check embryos for genetic issues before they are implanted in the uterus. It helps find embryos that might have a higher chance of leading to a miscarriage or passing on inherited conditions.
Carrier Screening
Each person carries some genetic changes, often without any impact on their own health. In most cases, carriers don’t show any signs or symptoms of the condition they carry. However, if both biological parents carry a mutation in the same gene, there’s a higher chance their child could inherit the condition.
A carrier screening test is usually done through a simple blood test and can help assess the risk of having a child with a genetic disease. It’s important to understand that even if you already have healthy children, you can still be a carrier of a genetic condition.
Carrier screening can check for conditions such as cystic fibrosis, sickle cell disease, fragile X syndrome, Tay-Sachs disease, spinal muscular atrophy, and Wilson disease. You should discuss testing options with your provider to determine which tests may be most appropriate based on your ancestry and family history.
Noninvasive Prenatal Screening
NIPT screening uses a blood test to analyze fetal DNA present in a pregnant woman’s blood. It can screen for a chromosome condition, such as Down syndrome (trisomy 21) and Edwards syndrome (trisomy 18). Because not all NIPT screening panels test for the same conditions, you should ask your provider which are included in your test. It can also reveal the sex of the fetus.
NIPT testing is highly accurate, allows for early detection, and poses no risk to the pregnancy. It is a screening test that provides an estimated risk of a fetus having a specific genetic condition but does not provide a diagnosis.
How Does Genetic Screening Work?
Because carrier screening and NIPT are performed through blood tests, no advanced preparation is required. Additional preparation may be required for other forms of genetic screening, such as amniocentesis. Your provider will provide you with details about how each test works and how best to prepare.
Understanding Your Test Results
Typically, your healthcare provider will review the results with you, answer questions you may have, and discuss additional test recommendations, if applicable. You may also wish to meet with a genetic counselor or a maternal fetal medicine specialist to better understand the results.
Advantia’s Approach to Genetic Screening
For pregnant families or those who are thinking about becoming pregnant, most Advantia Health providers offer carrier screening and non-invasive prenatal screening. Our providers can recommend a personalized testing approach based on your family history and wishes.
- Carrier screening can be performed before or during pregnancy to determine if you, your partner, or your donor carry inheritable health conditions that could be passed down to a child.
- Noninvasive prenatal (NPT) screening can be performed at 10 weeks of pregnancy and provide information about the chance of a chromosome condition. It can also reveal the predicted sex of a baby for single or twin pregnancies.
- The SneekPeek Early Gender Test is an NPT available for pregnant women. It can predict fetal sex as early as six weeks into pregnancy with 99% accuracy.
In some cases, your provider may recommend additional prenatal screening, such as amniocentesis or chorionic villus sampling (CVS).
Schedule Your Genetic Screening Consultation Today!
NIPT is offered as part of your comprehensive obstetric care with Advantia providers. If you would like to schedule carrier screening, please talk to your provider or call your nearest office to confirm availability.
