How Screening Tests Can Help with Family Planning

When planning for a family, you may want to take a screening test. In the New York Times article, "Everything You Need to Know About Blood Tests During Pregnancy" doctors recommend pregnant women get certain blood tests to reveal information on the health of their baby. Two of these tests are the non-invasive prenatal test (NIPT) and carrier screening. NIPT can be done as early as nine or ten weeks (depending on the method of the test) and carrier screening can be performed before pregnancy.

Understanding NIPT

What is NIPT?

NIPT (also known as a cell-free DNA screen) is a non-invasive prenatal test that can scan your baby's DNA to let you know the risk of certain chromosomal conditions. While the New York Times mentions NIPT can be taken as early as ten weeks, Panorama™ uses SNP-based technology allowing expecting mothers to take the test at 9 weeks. SNP-based technology allows doctors to differentiate between the mother and the baby's DNA, and scan for additional genetic conditions. These conditions are highlighted in the next section.

What does NIPT screen for?

A few conditions NIPT can screen for are Trisomy 21 (Down syndrome), Trisomy 13 (Patau syndrome), and Trisomy 18 (Edwards syndrome). Additionally, Panorama™ NIPT can screen for Triploidy, sex chromosome aneuploidies, microdeletions, and other conditions, depending on the panel chosen. Optionally, you can also determine fetal sex.

According to the New York Times, Trisomy 21 (Down syndrome) is the most common condition occurring with 1 in every 700 babies.

When should I get it?

Pregnant women can order Panorama™ as early as nine weeks, while some other NIPTs can be ordered after 10 weeks.

Although the risk of chromosome anomalies increases as a mother ages, they can happen to anyone. Prenatal screening is recommended for all pregnant women, and NIPT is the most accurate screen available.

For more information on Panorama™, please visit our Non-Invasive Prenatal Test page.

Understanding Carrier Screening

What is Carrier Screening?

A carrier screen is a blood test that scans your DNA for genetic changes (called mutations) or disorders that you may be passed on to your child(ren).  

Doctors typically recommend this test based on family history or ethnicity as some conditions are more common in certain groups. However, many people may not be aware of their full genetic lineage, and many conditions are recessive, so an expanded carrier screen is appropriate for most individuals.

What does carrier screening test for?

A few conditions carrier screening tests for are:

• Tay-Sachs disease
• Gaucher disease
• Niemann-Pick disease
• Huntington's disease
• Cystic Fibrosis

Expanded Carrier Screening (ECS) through LifeLabs looks at gene mutations relating to 289 genetic conditions through one test. The full list is available here. 

When should I get it?

Typical carrier screens occur before pregnancy or during the first trimester of your pregnancy. LifeLabs Genetics' Expanded Carrier Screening can test individuals or couples any time before or during pregnancy. 

For more information on our Expanded Carrier Screening test, please visit our Expanded Carrier Screening page.

References

1. Everything You Need to Know About Blood Tests During Pregnancy. https://www.nytimes.com/article/prenatal-blood-tests-guide.html
2. Panorama Non-Invasive Prenatal Test. https://www.lifelabsgenetics.com/product/non-invasive-prenatal-testing/ 
3. Expanded Carrier Screening. https://www.lifelabsgenetics.com/product/expanded-carrier-screening/