Self Care Aneuploidy Screening (Genetic Testing)

Aneuploidy screening is an optional test that can be performed in every pregnancy. There are several different options for genetic screening. These tests screen for abnormalities of the chromosomes or genes of the specific pregnancy.

Screening tests are tests that can help to estimate whether your baby has aneuploidy. They do not tell you a definite diagnosis, and a positive or abnormal test would indicate further testing is needed. Available screening tests include:

  • Noninvasive Prenatal Testing (NIPT)
    • NPIT is a maternal blood test that looks for pieces of fetal DNA. 
    • This test is recommended for mothers who will be over the age of 35 at the time of delivery, however, anyone at any age can elect to have this test.
    • This test screens for Trisomy 21 (Down Syndrome), Trisomy 18 (Edwards Syndrome), Trisomy 13 (Patau Syndrome), sex chromosome abnormalities, Triploidy (an entire set of chromosomes) and microdeletions of specific genes. You may also find out the sex of the baby with this test.
    • Testing can be done any time after 9 weeks. Results take approximately 10 business days to receive.
  • Ultrascreen
    • An ultrascreen includes an ultrasound and maternal blood test.
    • This test screens for the risk of Trisomy 21 (Down Syndrome) and Trisomy 18 (Edwards Syndrome).
    • Testing is done between 11-14 weeks.

All patients have the option for diagnostic testing. This is a procedure done to take samples of cells or amniotic fluid to check for genetic abnormalities. Testing is done with a specialist and has its own risks and benefits. We recommend a detailed discussion with your provider if you are interested in this option.

Insurance may or may not cover these tests based on your specific plan. If this is a concern, we encourage you to contact your insurance company beforehand to ask about coverage.

 

Carrier Screening

Carriers are individuals who have either no symptoms or mild symptoms of a genetic disorder, but they carry the gene variant for the disorder. That gene could be passed to their child. Carrier screening is voluntary and only needs to be done once in a person’s life. The purpose of this testing is to identify couples at risk of having a child with a genetic disease and to help understand future medical management.

At Heritage Women’s Center, we offer all patients carrier screening for at least a few specific genetic conditions. These genetic conditions include Cystic Fibrosis, Spinal Muscular Atrophy, Hemoglobinopathies, Fragile X, and Duchenne Muscular Dystrophy. Based on your ethnicity and family history, it may be important to screen for other syndromes. Please let your doctor know if you have genetic conditions that run in your family.

You can be screened for more conditions if you choose. There is screening available for over 270 genetic disorders. If you choose this expanded panel, it is likely that you will test positive for at least one gene. The next step is typically to test your partner for this same gene.