First Trimester Screening

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  • Also Known As:
  • Pregnancy-associated plasma protein-A (PAPP-A) with hCG
  • total or free beta subunit and nuchal translucency ultrasound
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At a Glance

Why Get Tested?

For pregnant women, to assess the risk of your baby having a chromosome disorder, such as Down syndrome (trisomy 21) or Edwards syndrome (trisomy 18)

When To Get Tested?

Usually between 11 and 14 weeks of pregnancy

Sample Required?

A blood sample drawn from a vein in your arm or a blood spot collected on special paper from a finger stick; a nuchal translucency requires a special ultrasound exam.

Test Preparation Needed?

You may be instructed to have a full bladder when having the nuchal translucency ultrasound performed.

What is being tested?

The first trimester screening is a combination of two blood tests and a special ultrasound that are used to assess a pregnant woman’s risk of carrying a baby with Down syndrome (trisomy 21) or Edwards syndrome (trisomy 18). Performing and evaluating them together, plus considering the woman’s age, increases both the sensitivity and specificity of the screening results.

  • Pregnancy-associated plasma protein A (PAPP-A) is a protein produced first by the growing placenta. During a normal pregnancy, levels of this protein increase in the pregnant woman’s blood until delivery.
  • Human chorionic gonadotropin (hCG) is a hormone produced during pregnancy in large quantities by the placenta. Either free beta subunit or total hCG can be used in first trimester screening. Levels of both usually rise rapidly in the pregnant woman’s blood for the first 8 to 10 weeks, then decrease and stabilize at a lower level for the remainder of the pregnancy.
  • Nuchal translucency is measurement made by ultrasound. The ultrasonagrapher measures the fluid collection between the spine and the skin at the nape of the fetus’s neck. It is a procedure that requires a specially trained radiologist, proper alignment of the fetus, and careful measurement. It is not a routine ultrasound, and it is not a procedure that is available at every hospital or health facility.

If the results of first trimester screening are cause for concern, diagnostic tests such as amniocentesis or chorionic villus sampling (CVS) may be recommended.

How is the sample collected for testing?

Blood is drawn from a vein in the woman’s arm or collected from a finger stick. The nuchal translucency ultrasound may be performed from outside the abdomen (transabdominally) or the probe may be inserted into the vagina (transvaginally).

Is any test preparation needed to ensure the quality of the sample?

You may be instructed to have a full bladder when having the nuchal translucency ultrasound performed.

Common Questions

How is it used?

The first trimester screening is a combination of tests for PAPP-A, hCG and nuchal translucency that are used to assess the risk that the fetus a pregnant woman is carrying has a chromosome disorder such as Down syndrome (trisomy 21) or Edwards syndrome (trisomy 18). The first trimester screen is one of the options you may be offered for prenatal Down syndrome screening. Other options include the second trimester maternal serum screen and the cell-free fetal DNA test.

One advantage of the first trimester screen is that it gives expecting women the option of earlier screening. However, the first trimester screen does not assess risk of neural tube defects such as spina bifida. This may be assessed in the second trimester as part of the maternal serum screen (triple or quad screen) or on its own.

The screening approach a woman may choose depends on what technology is available and when she first seeks prenatal care.

When is it ordered?

Your health care practitioner may offer you the test between 11 and 14 weeks of pregnancy.

What does the test result mean?

A genetic counselor or clinician who can explain the meaning of the results and offer choices about follow up should interpret the screening results.

A mathematical calculation using the results obtained from the PAPP-A, hCG, and nuchal translucency ultrasound is used to determine a numeric risk of a chromosomal defect in the fetus. This risk is compared with an established cut-off. If the risk is higher than the cut-off value (e.g., probability of 1 in 230 or higher), then it is considered a positive screen and the woman may be at increased risk for having a baby with a chromosomal abnormality.

It is important to remember that positive screening tests are not diagnostic of fetal abnormalities. While they do indicate an increased risk, only a very small number of women with a positive first trimester screen have babies who actually have a chromosome disorder.

In pregnancies where the fetus is carrying a chromosomal defect, such as the extra chromosome material that results in Down syndrome or Edwards syndrome, the levels of PAPP-A tend to be decreased, the levels of hCG are significantly increased, and the space at the fetus’s neck is larger than normal.

While the first trimester screen can correctly identify approximately 85% of women carrying a fetus with Down syndrome and up to 75% of those with Edwards syndrome, about 5% to 10% of normal pregnancies will have a false-positive result.

If a screening test is positive, more definitive tests are needed to determine and confirm a diagnosis. These may include a diagnostic test such as chorionic villus sampling (CVS) in the first trimester or amniocentesis in the second trimester. While these two procedures are more accurate than screening tests, they are also invasive and carry a small risk of miscarriage and a rare risk of injury to the fetus.

Screening will not detect all cases of fetal abnormalities.

Is there anything else I should know?

Test results are very dependent on nuchal translucency techniques and the accurate determination of the gestational age of the fetus. If the gestational age of the fetus has not been accurately determined, the results may be either falsely high or low.

In multiple gestation pregnancies (twins, triplets, etc.), calculation of the risk of Down syndrome or Edwards syndrome can be difficult because the amount of PAPP-A and free beta hCG is increased. The nuchal translucency ultrasound, however, is an assessment that is unique to each fetus and can be done independently with ultrasound. A woman with a multiple gestation pregnancy should consult her health care practitioner about her options.

What is Down syndrome?

About 1 in 700 babies are born with Down syndrome (trisomy 21) each year in the U.S. The condition causes mild to moderate mental retardation and developmental problems and can be associated with congenital heart defects, respiratory and hearing problems, leukemia, and thyroid disorders. Many of the complications of Down syndrome can be treated and the lifespan of those affected has greatly increased in recent years. The risk of having a child with Down syndrome or other chromosomal abnormality increases with the age of the mother. Although the risk of having an affected baby is significantly greater in those older than 35, the majority of Down syndrome babies (about 80%) are born to those under 35 because this age group has the greatest number of children. For this reason, the American College of Obstetricians and Gynecologists has recommended that all pregnant women be offered a screening test for Down syndrome.

What is Edwards syndrome?

Edwards syndrome (trisomy 18) is a condition in which there are three copies of chromosome 18. As with Down syndrome, the risk of carrying a fetus with Edwards syndrome increases with maternal age. Edwards syndrome is associated with multiple abnormalities and is usually fatal, with live-born infants rarely living beyond one year of age. The frequency of this abnormality is much less than Down syndrome, occurring in only 1 in 6,000 live births. For more information, see the Trisomy 18 Foundation web site.

Are there other non-invasive screening tests for these disorders?

A newer test called cell-free fetal DNA (cffDNA) only requires a blood sample from the pregnant woman and can be used to screen for certain fetal chromosome disorders, including Down syndrome, Edwards syndrome, and Patau syndrome (trisomy 13). It can be performed as early as the tenth week of pregnancy. Invasive diagnostic tests such as chorionic villus sampling (CVS) and amniocentesis are still needed to confirm the results of cffDNA. Since cffDNA screening is a relatively new test, some insurance companies may not cover it and it may not be available everywhere.

I am pregnant; will I have both first and second trimester screening performed?

There are several approaches to screening depending on what technology is available where you are and when you first visit your healthcare practitioner for prenatal care. Options include:

• First trimester screening for chromosome abnormalities using the combined tests for PAPP-A, hCG and nuchal translucency ultrasound (first-trimester Down syndrome screen), followed by a blood test for maternal AFP and/or a fetal ultrasound in the second trimester to check for neural tube defects

• Second trimester maternal serum screening (triple or quad screen) to assess risk for chromosome abnormalities and neural tube defects; this may be the only testing done, especially in the case of women who do not visit their healthcare practitioner until the second trimester.

• Cell-free fetal DNA testing in the first or second trimester, followed by a blood test for maternal AFP and/or a fetal ultrasound in the second trimester to check for neural tube defects

Typically, if first trimester screening for chromosome disorders has been performed, then screening in the second trimester is not performed because the risks for Down syndrome and Edwards syndrome have already been assessed. However, if you and your healthcare practitioner wish to use the results of both the first trimester Down syndrome screen combined tests and the second trimester maternal serum screen to assess the risk of chromosome abnormalities, then one of the following approaches is used:

• Integrated screening – involves performing both first trimester Down syndrome screening and second trimester maternal serum screening and not releasing the results until all testing is completed

• Sequential screening – involves performing a first trimester screen; if the screen indicates increased risk for Down syndrome or Edwards syndrome, a diagnostic procedure such as chorionic villus sampling (CVS) is offered. If the screen does not indicate increased risk, then a quad screen in the second trimester is offered and results from both the first and second trimester screens are used in the final risk assessment.

Related Content

On This Site

Tests: Second Trimester Maternal Serum Screening; hCG Pregnancy; Amniotic Fluid Analysis; Chromosome Analysis; Cell-Free Fetal DNA

Elsewhere On The Web

KidsHealth.org: Down Syndrome
National Down Syndrome Society
Trisomy 18 Foundation

View Sources

Sources Used in Current Review

(Reviewed 2014 October 21). Centers for Disease Control and Prevention. Data and statistics, occurrence of Down syndrome. Available online at https://www.cdc.gov/ncbddd/birthdefects/downsyndrome/data.html. Accessed 12/26/2016.

Lewis, R. (2015 July 3). Cell-free fetal DNA testing warrants caution, committee says. Medscape Medical News. Available online at http://www.medscape.com/viewarticle/847440. Accessed 12/26/2016.

(2015 September). American College of Obstetricians and Gynecologists. Committee Opinion, Number 640. Available online at http://www.acog.org/Resources-And-Publications/Committee-Opinions/Committee-on-Genetics/Cell-free-DNA-Screening-for-Fetal-Aneuploidy. Accessed 12/26/2016.

(2015 October 8). First trimester screening. Mayo Clinic. Available online at http://www.mayoclinic.com/health/first-trimester-screening/MY00126. Accessed 12/26/2016.

(2016 May). Practice Bulletin Number 163: Screening for fetal aneuploidy. American College of Obstetricians and Gynecologists. Available online at https://s3.amazonaws.com/cdn.smfm.org/publications/224/download-491f0e6962960848d2097447ab57a024.pdf. Accessed 12/26/2016.

Gregg A.R., Skotko, B.G., Bekendorf J.L., et al. (2016 July 28). Noninvasive prenatal screening for fetal aneuploidy, 2016 update: A position statement of the American college of medical genetics and genomics. Genetics in Medicine. Available online at http://www.nature.com/gim/journal/vaop/ncurrent/full/gim201697a.html. Accessed 12/26/2016.

(2016 September). American College of Obstetricians and Gynecologists. Screening for birth defects. Available online at http://www.acog.org/~/media/For%20Patients/faq165.pdf?dmc=1&ts=20130213T1410405774. Accessed 12/26/2016.

(2016 October). March of Dimes. Down syndrome. Available online at http://www.marchofdimes.com/baby/birthdefects_downsyndrome.html. Accessed 12/26/2016.

(Reviewed 2016 October 20). Centers for Disease Control and Prevention. Birth defects, diagnosis. Available online at http://www.cdc.gov/ncbddd/birthdefects/diagnosis.html. Accessed 12/26/2016.

(© 1995-2016). Mayo Medical Laboratories. First trimester maternal screen. Available online at http://www.mayomedicallaboratories.com/test-catalog/2011/Clinical+and+Interpretive/87857. Accessed 12/26/2016.

(© 2016). Trisomy 18 Foundation. What is trisomy 18? Available online at http://www.trisomy18.org/site/PageServer?pagename=whatisT18_whatis. Accessed 12/26/2016.

(September 2016) American Congress of Obstetricians and Gynecologists. Prenatal Genetic Screening Tests. Available online at http://www.acog.org/Patients/FAQs/Prenatal-Genetic-Screening-Tests?IsMobileSet=false. Accessed January 2017.

Sources Used in Previous Reviews

Pagana, Kathleen D. & Pagana, Timothy J. (© 2007). Mosby’s Diagnostic and Laboratory Test Reference 8th Edition: Mosby, Inc., Saint Louis, MO. Pp 710-713.

Thomas, Clayton L., Editor (1997). Taber’s Cyclopedic Medical Dictionary. F.A. Davis Company, Philadelphia, PA [18th Edition].

Newberger, D. (2000 August 15). Down Syndrome: Prenatal Risk Assessment and Diagnosis. American Family Physician [On-line journal]. Available online at http://www.aafp.org/afp/20000815/825.html. Accessed on 4/15/07.

Qin, Q., et. al. (2002). Point-of-Care Time-resolved Immunofluorometric Assay for Human Pregnancy-associated Plasma Protein A: Use in First-Trimester Screening for Down Syndrome. Clinical Chemistry 48:473-483 [On-line journal]. Available online at http://www.clinchem.org/cgi/content/full/48/3/473. Accessed on 4/15/07.

(2007 January). Maternal Blood Screening for Birth Defects. March of Dimes [On-line information]. Available online at http://www.marchofdimes.com/printableArticles/14332_1166.asp. Accessed on 4/15/07.

Barclay, L. and Lie, D. (2007 January 4). New Guidelines Recommend Universal Prenatal Screening for Down Syndrome. Medscape Medical News [On-line information]. Available online at http://www.medscape.com/viewarticle/550256_print. Accessed on 4/10/07

Cleary-Goldman, J. and Malone, F. (2005 September 26). Advances in Prenatal Diagnosis. Medscape from Appl Radiol 2005;34(9): 8-18 [On-line information]. Available online at http://www.medscape.com/viewarticle/513126_print. Accessed on 4/10/07.

Cole, D.S. (© 2005). Advances in First-Trimester Prenatal Diagnosis: Combined, Integrated, or Amniocentesis? Medscape Conference Coverage: American College of Obstetricians and Gynecologists 53rd Annual Clinical Meeting [On-line information]. Available online at http://www.medscape.com/viewprogram/4078_pnt. Accessed on 4/10/07.

American College of Radiology and the Radiological Society of North America. Radiology Info, Obstetric ultrasound (online information, accessed June 2007). Available online at http://www.radiologyinfo.org/en/info.cfm?PG=obstetricus.

Malone FD, et al. First Trimester or Second Trimester Screening or Both for Down Syndrome. New England Journal of Medicine. 2005;353: 2001-2011.

ACOG News Release (January 2, 2007). New Recommendations for Down Syndrome Call for Screening of All Pregnant Women. Available online at http://www.acog.org/from_home/publications/press_releases/nr01-02-07-1.cfm.

ACOG Practice Bulletin Clinical Management Guidelines for Obstetrician-Gynecologists. Number 77, January 2007. Screening for Fetal Chromosomal Abnormalities. Obstetrics & Gynecology 2007; 109: 217-227.

(© 2010). Screening for Birth Defects. ACOG [On-line information]. Available online at http://www.acog.org/publications/patient_education/bp165.cfm. Accessed June 2010.

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Mayo Clinic Staff. (2008 July 2). First trimester screening. MayoClinic.com [On-line information]. Available online at http://www.mayoclinic.com/health/first-trimester-screening/MY00126. Accessed June 2010.

Ekelund, C. et. al. (2008 December 08). Impact of a new National Screening Policy for Down’s Syndrome in Denmark: Population Based Cohort Study. Medscape from BMJ. 2008;337(2547) [On-line information]. Available online at http://www.medscape.com/viewarticle/584622. Accessed June 2010.

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(February 2006) American Pregnancy Association. First Trimester Screen. Available online at http://www.americanpregnancy.org/prenataltesting/firstscreen.html. Accessed September 2010.

Clarke, W. and Dufour, D. R., Editors (2006). Contemporary Practice in Clinical Chemistry, AACC Press, Washington, DC Pp 416-418.

ACOG. Screening for Birth Defects. Available online at http://www.acog.org/~/media/For%20Patients/faq165.pdf?dmc=1&ts=20130213T1410405774. Accessed February 2013.

CDC. Birth Defects, Diagnosis. Available online at http://www.cdc.gov/ncbddd/birthdefects/diagnosis.html. Accessed February 2013.

MayoClinic.com. First trimester screening. Available online at http://www.mayoclinic.com/health/first-trimester-screening/MY00126. Accessed February 2013.

March of Dimes. Birth defects: Down syndrome. Available online at http://www.marchofdimes.com/baby/birthdefects_downsyndrome.html. Accessed February 2013.

Trisomy 18 Foundation: What is Trisomy 18? Available online at http://www.trisomy18.org/site/PageServer?pagename=whatisT18_whatis. Accessed February 2013.

LabCorp. First Trimester Maternal Serum Screening. PDF available for download at http://www.ptow.com/x_upload/files/Maternal%20Serum%20Screening.pdf. Accessed February 2013.

 

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