First and second trimester serum screening

Maternal serum screening tests use a blood sample from the mother to identify pregnancies at risk for certain birth defects

What’s the difference between serum screening and noninvasive prenatal testing?

While serum screening has been in use for more than 40 years, noninvasive prenatal testing (NIPT) was introduced in 2011 (with our own test, MaterniT 21, being the first commercially available NIPT). Both tests are noninvasive (i.e. they require a blood sample from the mother’s arm, not tissue from the placenta or fluid from the amniotic sac).

However, serum screening typically screens for just three common birth defects—Down syndrome, trisomy 18 and open neural tube defects—whereas NIPT can screen for many more defects, as well as fetal sex. Additionally, MaterniT 21 PLUS has higher detection rates than serum screening.

A maternal serum screening test:

  • tells you the chance that your baby could have trisomy 21 (Down syndrome), trisomy 18 or open neural tube defects
  • will detect about 80%–90% of babies with these birth defects, depending on the particular test your doctor uses and how far along you are in your pregnancy. That means that about 10%–20% of these birth defects are missed by this screening
  • sometimes shows an increased risk even when the baby does not have one of these problems
  • does not cause miscarriages

At Integrated Genetics, we offer five choices in serum screening.

Afp4® screening measures certain proteins to provide risk assessments for Down syndrome, trisomy 18 and open neural tube defects (e.g., spina bifida) in the second trimester. Download brochure

FirstScreen® shows if you are at increased risk of having a baby with Down syndrome or trisomy 18. It requires a sample of your blood and an ultrasound measurement, and is performed between the 10th and 14th week of your pregnancy. Download brochure

IntegratedScreen® shows if you are at increased risk of having a baby with Down syndrome, trisomy 18, or an open neural tube defect. It requires a sample of your blood and an ultrasound measurement performed in the first trimester of pregnancy, and a second blood sample taken during the second trimester. Download brochure

SequentialScreen® shows if you are at increased risk of having a baby with Down syndrome, trisomy 18, or an open neural tube defect. It is the only screen that can provide you with two answers. Part 1 leads to the detection of approximately 70% of Down syndrome cases and 80% of trisomy 18 cases, and Part 2 leads to detection of approximately 90% of Down syndrome cases, 90% of trisomy 18 cases and 80% of open neural tube defects.* Download brochure

SerumIntegratedScreen® is a two-part maternal serum screening test that combines results from the 1st and 2nd trimester to screen for Down syndrome, trisomy 18 and open neural tube defects, such as spina bifida. Download brochure

 

*According to several large, multi-center studies

Other testing options

In addition to serum screening, we offer noninvasive prenatal testing (NIPT) for Down syndrome and other conditions; carrier screening for disorders such as cystic fibrosis; diagnostic testing options for post-pregnancy or further confirmation of screening tests; and hereditary cancer screening.

If you’ve not had a test and have questions about costs or coverage, use our estimator.

If you have already had a test performed, we can help answer questions about results.

Ask questions about genetic testing options or results, or schedule an appointment.