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Choice in genetic testing in your first and second trimesters

Pregnancy is a dynamic time. Several tests are available in your first and second trimesters to provide information about the genetic health of your developing baby.



Noninvasive prenatal tests (NIPT) can screen for trisomy 21 (Down syndrome) and other chromosomal abnormalities—as well as the sex of your baby—as early as nine weeks into your pregnancy, and with a high degree of accuracy. Integrated Genetics offers three NIPTs.

  • MaterniT® 21 PLUS, the pioneering NIPT, screens for common trisomies (such as trisomy 21, Down syndrome),  and can be customized to screen for more conditions (eg, DiGeorge syndrome).
    • GENOME-Flex, a new NIPT high risk pathway. Rapidly re-sequence previously run MaterniT 21 PLUS samples using MaterniT GENOME when late stage anomalies are suspected. Now you have options if a second NIPT is required.

  • MaterniT® GENOME reports on every chromosome to tell you even more about your baby’s health—our most robust NIPT offering.


Serum screening

Maternal serum screening tests estimate the chance that your baby could have Down syndrome, trisomy 18 or open neural tube defects, leading to the detection of about 80% to 90% of babies with these birth defects, depending on the particular test your doctor uses and how far along you are in your pregnancy.

Similar to NIPT, a positive serum screen can be confirmed with a diagnostic test. As with NIPT, we offer choices. Learn more about serum screening options.


Diagnostic testing

Diagnostic procedures (such as amniocentesis and CVS, chorionic villus sampling) are used to test for chromosomal abnormalities, open neural tube defects, and/or specific inherited diseases.

We also offer pediatric diagnostic testing to analyze chromosomes in newborns and infants for changes that can explain certain birth defects or developmental delays.


Understanding prenatal genetic testing options

This video reviews and compares screening and testing options for Down syndrome and other chromosome abnormalities. Learn more about genetic testing options here.

NIPT vs. serum screening vs. diagnostic tests

You may choose to have NIPT, a serum screening test, a diagnostic test, a combination of the tests, or no testing at all. Here are the most important differences between the tests:


  • Can be performed as early as nine weeks
  • Tells you the chances of your baby having a chromosomal abnormality such as trisomy 21 (Down syndrome) and—depending on the type of NIPT you choose—many more conditions
  • Screens for fetal sex
  • Done via a maternal blood sample from the mother’s arm
  • Does not cause miscarriages
  • Can require diagnostic testing to confirm a positive result (a “positive result” likely means the baby is affected)

Serum screening

  • Can be performed as early as 10 weeks
  • Done via a maternal blood sample from the mother’s arm
  • Does not cause miscarriages
  • Tells you the chance that your baby could have trisomy 21 (Down syndrome), trisomy 18 (Edwards syndrome), and when drawn after 15 weeks, open neural tube defects (such as spina bifida)
  • Sometimes show a high risk even when the baby does not have one of these problems

NOTE: The American College of Obstetricians and Gynecologists recommends that women with a “high risk” maternal serum screening result be offered diagnostic testing.1 Women with a “low risk” result often choose not to have diagnostic testing.

Diagnostic tests

  • Can be performed as early as 10 weeks (CVS) or 15 weeks (amniocentesis)
  • Tell you with greater than 99% accuracy whether your baby is affected or is not affected with Down syndrome or trisomy 18
  • Tell you with greater than 90% accuracy whether your baby is affected with an open neural tube defect
  • Can test for other genetic disorders when additional risks are identified in a patient’s history
  • Are estimated to cause miscarriage in 1 in 300 to 1 in 500 pregnancies for amniocentesis and up to 1 in 100 with CVS

NOTE: Not even diagnostic testing can show all birth defects or genetic diseases. No test is perfect: even when all the results of diagnostic testing are normal, all pregnancies still have approximately a 3-5% risk of birth defects.

Carrier screening

While NIPTs, serum screening, and prenatal diagnostic testing indicate the genetic health of your baby, carrier screening is different, as it detects the carrier status of you and your partner, and helps to determine if there’s any risk of passing on a genetic disorder, such as cystic fibrosis (which affects about 1 in 3,500 babies born in the US).2 

These tests are performed on a blood sample from your arm, and can either be performed prior to or during a pregnancy. Learn more about carrier screening tests.

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.


  1. Ob-Gyns release revised recommendations on screening and testing for genetic disorders [news release]. Washington, DC: American College of Obstetricians and Gynecologists (ACOG) and Society for Maternal-Fetal Medicine (SMFM); March 1, 2016. Accessed September 26, 2017.
  2. Cystic fibrosis and your baby. March of Dimes website. Accessed July 20, 2017.