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1. What can First Trimester screening tell me about my pregnancy?
The screening determines what is the probability that the baby might have Down syndrome, or trisomy 13. This probability, or chance, is based on three criteria: your age, information obtained on a sonogram (ultrasound), and bloodwork. Your genetic counselor will discuss the results in more detail and answer all your questions.

2. How is First Trimester Screening performed?
This screening requires a sonogram and maternal blood work performed between 11 1/7 – 13 6/7 weeks of pregnancy. The sonogram will confirm how far along your pregnancy is. In addition, a measurement of the collection of fluid at the back of the baby's neck, called the nuchal translucency (NT), will be taken. Several other observations will be made including the presence of the nasal bone (see photo to the left), bladder length and the number of vessels in the umbilical cord. A maternal blood sample is also offered and used to analyze two chemicals called free beta-human chorionic gonadotropin (hCG) and pregnancy associated plasma protein-A (PAPP-A), which are found in the blood of all pregnant women. In some pregnancies when the baby has Down syndrome or trisomy 18, there is extra fluid behind the baby's neck and the hCG and PAPP-A results are higher or lower than average. Combining your age-related risk with the NT measurement and blood work provides you with a revised risk figure for Down syndrome and a risk figure for trisomy 18.

3. How accurate is First Trimester Screening?
Because this is a screening test, a positive result (showing an increased risk) does not mean that your baby has a problem, only that further diagnostic tests are options for you to consider. Also, a negative or normal result (one that shows a decreased risk) does not mean that the baby will not have Down syndrome or trisomy 18. The First Trimester screen detects about 95% of pregnancies in which the baby has Down syndrome or trisomy 18. A nuchal translucency sonogram can be performed without measuring hCG and PAPP-A; however, the detection rate of Down syndrome and trisomy 18 is reduced to about 85%. Finally, this screen is not designed to provide information about the possibility of other chromosome conditions, nor about many other genetic syndromes, genetic disorders, birth defects, or causes of mental retardation.

4. Should I still have the second trimester screening (triple or quad screen)?
The second trimester maternal serum screening test, also known as the "triple screen" or "quad screen", is performed between 16-22 weeks. Both of these screens measure chemicals in the mother's blood. Like the First Trimester screening, results from a second trimester "triple screen" or "quad screen" can be used to statistically adjust a woman's age-related risk for Down syndrome and trisomy 18. In addition, the AFP portion of the screen can identify pregnancies at an increased risk for open neural tube defects such as spina bifida, which First Trimester screening does not include. While these screens are certainly used as  additional screening options after having the First Trimester screening, interpretation of the results of the second test in light of the first is complex. Currently most laboratories do not combine results from First Trimester and second trimester screening into one overall adjusted risk figure.

5. What is the cost of First Trimester Screening?
The screening involves a charge for the ultrasound examination and the blood test. The blood test, may not be covered by your insurance and you may want to check with your insurance company to see if your specific plan will cover the cost of it. If they do not cover it, we maybe able to arrange a special discount. As with any service, if your insurance company requires pre-authorization, you are responsible for obtaining it from your OB or primary care physician prior to the appointment.

6. How will I receive my First Trimester Screening results?
The results based on Mothers age, the previous genetic history and the ultrasound will be discussed immediately after the examination. If you also have the blood test, the composite results will usually be available in 3-5 days.

We will receive these results from NTD Laboratories and will contact you and your primary physician with your results.

7. What if the screening shows an increased risk for one of the conditions?
If the screening results indicate that your baby is at an increased risk for either Down syndrome or trisomy 18, this does NOT mean that your baby necessarily has one of these conditions. A genetic counselor is available to go over your result and to discuss additional testing options such as chorionic villus sampling (CVS) and amniocentesis. CVS and amniocentesis are diagnostic tests that can tell you with greater than 99% accuracy whether or not a baby has a chromosome abnormality, such as Down syndrome or trisomy 18. Also, extra fluid behind the baby's neck (a larger than expected nuchal translucency) is known to be associated with other birth defects like congenital heart defects, skeletal defects and other genetic syndromes.

8. How do I schedule an appointment for First Trimester Screening?
Your obstetrician's office can give you more information about scheduling this screen at our office. You may also call us directly at 434-220-8620. Please make sure to check with your insurance company regarding coverage for this exam. As with any sonogram, you will not need to have a full bladder.