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Genetic Screening in Pregnancy
There are many genetic screening options available to you during your pregnancy. These include:
Non-invasive prenatal screening (NIPS or MaternIT 21)
A NIPS is a blood test done after your 9th week of pregnancy. This test screens for the risk of Down Syndrome, Trisomy 13, Trisomy 18, and possible gender differences your baby may be born with.
| Mom's Age (at time of delivery) |
Possible Risk for Down Syndrome | Possible Risk for Chromosome Condition |
| 20 | 1 of 846 | |
| 25 | 1 in 777 | |
| 30 | 1 in 567 | |
| 35 | 1 in 230 | 1 in 114 |
| 40 | 1 in 56 | 1 in 29 |
| 45 | 1 in 21 | 1 in 8 |
Carrier Screening
This is a screening that can help you understand your chance of passing on an inherited condition to your baby. Everyone has a chance to be a carrier even if you do not have a family history of a genetic condition.
Most carriers do not have symptoms of these conditions. You may not know you are a carrier unless you have a carrier screening.
Some people are more likely to be carriers of genetic conditions because of their family history. See the “Genetic Carrier Screening” handout for more information.
Maternal serum alpha-fetoprotein (MSaFP)
A MSaFP is a blood test done after your 15th week of pregnancy. This test may tell you about possible pregnancy risks, such as spine defects.
Spine defects, including spina bifida, are a type of birth defect. This is when there is an opening in your baby’s spine. It can cause damage to their spine and nerves. Spina bifida can be mild or severe.
Genetic Conditions
Down Syndrome
Down syndrome is a genetic condition where your baby has 3 of chromosome 21, instead of only 2. This is also called “trisomy 21”. Down Syndrome may cause birth defects and learning disabilities.
Trisomy 13 & Trisomy 18
Trisomy 13 and 18 are genetic conditions where your baby has 3 of chromosome 13 or 3 of chromosome 18, instead of only 2. These conditions may cause brain and heart defects.
Gender Differences
Gender differences are genetic conditions where your baby is missing or has extra sex chromosomes. “X” chromosomes are female. “Y” chromosomes are male. These conditions may cause differences in your baby’s sexual development. They may also increase their risk of having birth defects.
FAQ's
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Do I have to do these screenings
No. Genetic screenings are optional. You decide if you would like these screenings done or not.
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What do these screening tests tell me?
These tests do not diagnose your baby with a specific condition. Screenings are done to show parents if there is a higher risk for their baby to have a genetic condition. We recommend you and your baby be referred to a genetic counselor and a maternal fetal medicine provider if a screening shows an abnormal result. They can explain screening results and go over more testing options.
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How accurate are the results?
It is important to know these tests are only screenings. They do not provide absolute answers. Each test depends on many factors that can affect the accuracy of the results. A normal (negative) result does not mean that there are no developmental concerns, birth defects, or other chromosome differences.
Your baby may still be born with these concerns.
Learn about your risk of hereditary cancer or determine if your unborn baby has a genetic