Tests & Screenings for High Risk Pregnancy
Our maternal fetal medicine specialists offer extensive diagnostic tests and screenings and will recommend those necessary for your individual pregnancy.
First Trimester Screening
This optional screening test is offered to all pregnant women. It provides early information about a baby's risk of certain genetic diseases and conditions, such as Down syndrome (trisomy 21) and trisomy 18 and trisomy 13. It does not tell you the sex of the baby.
First trimester screening involves:
- A blood test
- A specialized ultrasound to measure an area on the back of the baby’s neck called the nuchal translucency
First trimester screening is usually done between week 11 and week 14. Results are usually available within 3 to 7 days.
Cell-Free DNA Screening
Our maternal-fetal medicine physicians might recommend cell-free DNA screening if:
- You’ve had a prior child with a condition such as Down syndrome, trisomy 13, or trisomy 18
- You’re 35 or older
- Results of an earlier screening test were unclear
This test is usually done after week 10. Results are usually available within one week.
Chorionic Villus Sampling
Our specialists will offer you the option to have this test if:
- Other test results — first trimester screening or cell-free DNA screening — are positive or unclear
- You have had a prior baby with a genetic disease or condition such as Down syndrome, cystic fibrosis, or other chromosomal or karyotype abnormalities
- You’re 35 or older
- You have a family history of a specific genetic condition, or you or your partner is a carrier for a genetic condition
Our maternal-fetal medicine physicians have been specially trained, can do chorionic villus sampling in our outpatient high-risk pregnancy center.
This test is usually done between week 10 and week 14. Results are available anywhere from a few days to a few weeks afterward, depending on the tests ordered.
Our specialists may offer you the option to have an amniocentesis if:
- Results of an earlier test were abnormal, and it is too late to have chorionic villus sampling
- Your doctor suspects you might have a fetal infection
- You’ve had a prior baby with a genetic condition
- You’re 35 or older
- You have a family history of certain genetic abnormalities, or if you or your partner are noted to be carriers of certain genetic mutations
- There is an abnormal finding on your baby’s ultrasound
Our maternal-fetal medicine physicians are highly experienced and can do amniocentesis in our outpatient high-risk pregnancy center.
This test is usually done between week 15 and week 23. It can be done later under certain circumstances. Results are available anywhere from a few days to a few weeks afterward, depending on the tests ordered.
Our specialists do a biophysical profile to check the well-being of your baby in the third trimester of a high-risk pregnancy. This test can be done between week 24 and week 42. Your maternal-fetal medicine physician will give you the results at the time of your visit. We coordinate the non-stress testing with your obstetric provider. We perform additional tests and screenings. For information, call our office at 719-571-4590.
Genetic Counseling and Testing
Genetic counseling helps you understand your risk of having a baby with a genetic disease or condition. It’s based on your family health history and screenings and tests to look for genetic risks.
Our maternal-fetal medicine physicians offer basic obstetric genetic counseling. If we think you would benefit from more in-depth genetic counseling, we will refer you to a genetic counselor at Penrose-St. Francis Health Services. This specially trained health care professional will analyze your risks and help you understand test results. He or she will also help you make informed decisions about your pregnancy.
We may recommend a visit with a genetic counselor if:
- Rare genetic diseases or conditions run in your family
- You’ve had a baby with a rare genetic disease or condition
- Tests show your baby may be at risk for a rare genetic disease or condition