What Prenatal Testing Options Are Available?

*Contributed post by Jenna Smith

Throughout your pregnancy, your doctor will closely monitor the growth and development of your child. In order to do this, he or she will conduct routine screenings and may offer diagnostic tests. Prenatal screening is meant to give your doctor an indication as to what might be a concern for your baby’s health. What Prenatal Testing Options Are Available?

Noninvasive Prenatal Genetic Testing

During pregnancy, DNA associated with the fetus circulates throughout the mother’s body. Using a blood sample from the mother, scientists can analyze this DNA to assess the risk that the fetus may have a chromosomal abnormality. This screening method is referred to as noninvasive prenatal genetic testing. Noninvasive prenatal testing can be done as early as week 10 in your pregnancy. Prenatal diagnostic tests, which are offered if a screening shows a risk is present, will give definitive answers.


First Trimester Screening Test

A first-trimester screen is the first screening offered to pregnant women. This screening consists of a two-part test. One part involves collecting a sample of blood from the mother in order to look at two substances: the hormone human chorionic gonadotrophin (hCG) and the protein pregnancy-associated plasma protein A (PAPP-A). The level of each substance could indicate a risk of a chromosomal abnormality.

The other part of a first-trimester screening involves ultrasound imaging. During the ultrasound, the doctor measures the amount of fluid located in a certain region behind the baby’s neck, referred to as the nuchal translucency. The amount of this fluid may indicate a high risk of a chromosomal abnormality. The first-trimester screening test is typically performed between gestation weeks 11 and 13.

Chorionic Villus Sampling

If your doctor believes that your developing baby has a high risk of having a chromosomal or genetic disorder due to the results of screening tests, you will be offered the option of diagnostic testing.

One diagnostic testing option is Chorionic villus sampling or CVS. During this procedure, your doctor guides a needle through your abdomen or cervix using an ultrasound image for guidance. A sample of the placenta is collected and analyzed in order to identify any possible chromosomal abnormalities or genetic disorders. If you choose to get CVS, this procedure is usually performed between gestation weeks 10 and 13.

Triple/Quad Screening Test

Further along in your pregnancy, your doctor may want to monitor levels of specific hormones and proteins in your blood. Using a blood sample from the mother, a triple screening measures
the amount of alpha-fetoprotein (AFP), human chorionic gonadotropin (hCG) and estriol. In a quad screening, all the mentioned substances are measured in addition to Inhibin A. If the levels of one or more of these substances are out of range, this may indicate a high risk of a chromosome abnormality. Triple/quad screening is typically done between gestation weeks 15 and 18.


Amniocentesis is a diagnostic testing option that analyzes cells found in the amniotic fluid for chromosomal abnormalities, genetic disorders, or neural tube defects. This procedure involves collecting a sample of amniotic fluid by using an ultrasound image to guide a needle through your abdomen into the uterus. If you choose to get an amniocentesis, this procedure is typically done between gestation weeks 16 and 20.

Still, Have Questions About Prenatal Testing?

If you’d like more information regarding prenatal testing during your pregnancy, talk to your doctor or schedule an appointment with a genetic counselor. When you’re informed, you can make the best decisions regarding your pregnancy.







  1. Gabrielle says:

    This is really important information for anyone planning motherhood.

  2. Very informative. Not sure I would have wanted to avail myself of most of these when I was expecting my children.

  3. I knew some of these but not all. wow!

  4. It is surprising that testing can be done as early as 10 weeks. So many advancements have been made in the last few years.

  5. Chris L says:

    So many test options. I am not sure if this is really good.

  6. There are more prenatal tests now then when I had my children years ago.

  7. Good information for poeple who are pregnant or think they are!

  8. melissa craig says:

    I had my children at an older age so I had MANY tests

  9. Good article to inform folks what is available and to be aware of reasons for tests.

  10. April Gupton says:

    Things have come a long way, great info!

  11. Sandy Cain says:

    And what if the baby shows abnormalities? Abortion? A very troubling question. Should we abort those with Down’s Syndrome, for example? I know I couldn’t.

  12. Cynthia R says:

    We’ve come a long way. So much safer for mom and baby. Compare now to scenes from say Call of the Midwife.

  13. I had no idea all these thing existed. Thanks for sharing!

  14. Victoria Scott says:

    This is an awesome list. Definitely worth sharing!

  15. I used to work for a ob/gyn back in the middle 90’s things have really come a long way since then,,the big question I always asked when offering the options of the testing that was available back then,was what would you do if it comes back positive? have to consider that when choosing too,,an ive seen some false positives,that led to much more testing and expense,usually by then its a late term abortion if that is the route they choose,,,back then most of the tests were optional,,we had to sent them to another bigger town for the abortion,,our office did not do them,,ive seen it go both ways termination and carrying the baby to the end,,and handling what comes,,it is a very hard decision,,personally I chose not to know,because I wasn’t going to terminate either way

  16. I was not aware that prenatal testing could be done as early as 10 weeks.

  17. patty.wright says:

    I think this will be done more often in the future.

  18. Wow, that’s a lot of testing available for pregnant women!

  19. patty.wright says:

    I already had kids and they are grown. Good article though

  20. Michelle Castagne says:

    Very interesting info. So many tests!

  21. Good information! I had no idea!

  22. Gabrielle says:

    It’s amazing how many tests there are now.

  23. I didn’t realize there were so many options. Thanks for posting this.

  24. So many decisions for expectant parents to make.

  25. April Gupton says:

    Things have come a long way!

  26. VICKI RAINS says:

    Wish they would have had some of this information years ago when I needed it.

  27. monique s says:

    it is great for expectant moms to have resources like this

  28. Jay Jackson says:

    Great article, I will have to share this with my sister in law, she is trying to get pregnant.

  29. tat2gurlzrock says:

    Interesting article. I didn’t realize there are so many test options.

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