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A woman receiving genetic testing during pregnancy

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:
Cell-free DNA testing

The most common option is cell-free fetal DNA screening (non-invasive prenatal testing). This simple blood test — the most accurate genetic screening available — will tell you if your pregnancy is high or low risk for a variety of conditions, as well as information about the child’s sex. 
First trimester screen

This test, performed between weeks 11 and 14, will tell you if your pregnancy is at high or low risk for chromosomal conditions such as Down syndrome or trisomy 18 (Edwards syndrome). It involves an ultrasound and blood draw. 
Quad screen

This blood test is performed between weeks 16 and 22. It tells you if your pregnancy is high or low risk for Down syndrome, trisomy 18 and spina bifida, an opening in the spine. 
Maternal serum alpha-fetoprotein

This blood test is performed between weeks 16 and 22. It looks for a marker in your blood to determine if your pregnancy is at high risk for an opening in the spine, called spina bifida (open neural tube defect), or abdominal wall defects.


What are diagnostic genetic tests?

These tests can provide a yes or no answer about a genetic condition.

Chorionic villus sampling (CVS)

This test takes place between weeks 11 and 14. A maternal-fetal medicine specialist will insert a thin needle through your abdomen to collect placental tissue that can be tested to determine if your baby has a genetic condition. 

This procedure, performed by a maternal-fetal medicine specialist, is monitored by ultrasound and involves placement of a thin needle through your abdomen to collect amniotic fluid. This test may be offered to you if your pregnancy is considered high risk.
Carrier screening

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. 



Is genetic testing right for me?

A genetic counselor would be happy to meet with you, review your personal and family history and discuss genetic screening and testing options that may be best for you and your family. If you’re thinking about genetic counseling, talk to your provider.

Talk to our team today to schedule an appointment

Call 800-275-6401 and say “women’s services.” 
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