Genetic testing during pregnancy
Genetic tests and screenings can help provide more information about your baby before birth. Learn if they're right for you.
Genetic screening and testing during pregnancy
When you’re pregnant, your healthcare provider will explain several potential genetic tests and screenings. These tests are all optional and are available to provide more information about your baby before birth.
Should I have prenatal genetic testing?
Many parents choose to have genetic testing done because they want to know if their baby has a genetic condition.
After age 35, the chance of having a baby with a genetic condition increases.
You might also opt for genetic testing if there was an abnormal finding on your ultrasound, or if a genetic condition runs in either parent’s family.
What happens during a genetic test?
Most genetic tests involve a simple blood draw. But some genetic tests involve taking a sample from the uterus. Those tests, called chorionic villus sampling or amniocentesis, are typically performed by a maternal fetal medicine specialist who cares for those with high-risk pregnancies. These tests might be discussed if your child’s at high risk for having a genetic condition.
What conditions can be screened for?
Conditions that can be detected with screening include:
- Trisomy 21, also known as Down syndrome
- Trisomy 18, also known as Edwards syndrome
- Trisomy 13, also known as Patau syndrome
- Spina bifida, a condition that occurs when the spinal cord doesn't develop properly
- Sex chromosome conditions, which affect the X and Y chromosomes that determine whether a child is male or female. If prenatal screening detects differences in these chromosomes, you may be referred to a genetic counselor to learn more. Examples of sex chromosome conditions are monosomy X (Turner syndrome) and Klinefelter syndrome.
What are the genetic screening options?Screening options for chromosomal conditions include:
What are diagnostic genetic tests?
These tests can provide a yes or no answer about a genetic condition.
This blood test analyzes samples from both biological parents to determine if you carry any of several genetic conditions. If you’re both carriers of a certain genetic condition, your children will have an increased risk of inheriting the condition.
All patients are offered carrier screening for:
- Cystic fibrosis
- Spinal muscular atrophy
- Sickle cell disease
- Beta thalassemia
- Alpha thalassemia
You may be offered screenings for more conditions based on your family history or other factors specific to your pregnancy. There are options for carrier screening for more than 200 recessive conditions.