The truth about prenatal screening
The more you know about prenatal screening, the more you can learn about the health of your child.
Myths about prenatal screening
Flip the card to uncover the truth
Prenatal screening is scary and stressful.
Most families find screening reassuring. If a possible risk is identified, screening gives you time to learn more about your baby’s needs from the start.
Why do I need to screen? I wouldn’t do anything differently.
In the rare instance that results show a high risk for a condition, knowing gives you time to look into additional testing, connect with specialists, find the best medical facility, and more.
It’s not needed. Screening is just for families with a history of rare disease.
Even if you’re unaware of inherited genetic conditions, any baby could be born with a chromosome or genetic condition. Some people are carriers and don’t know it.
I’m not pregnant. So, there’s no reason for me to screen.
Even if you’re not pregnant, carrier screening can let you know your risks if one or both reproductive partners carry a genetic change for a serious genetic disorder.
It's expensive. Most health plans don't cover prenatal genetic screening.
Health insurance often covers the entire cost for prenatal screening. If not, you can ask if you qualify for financial assistance from the testing lab.
All prenatal screening is the same.
There are different screens for different prenatal circumstances. Plus, the accuracy and utility of a specific type of screen can vary between laboratories.
Screening options for every stage
Whether you’re thinking about starting a family or already expecting, specialized screening options are available to help you learn more about your baby’s genetic health before and after conception.
Gender Test
Rather than wait for a 20-week ultrasound, you can now learn the predicted sex of your baby as early as six weeks into your pregnancy with a simple at-home DNA test – with greater than 99% accuracy.2
Cell-free DNA Screening
Cell-free DNA testing can tell you if your baby is at high risk for a variety of genetic conditions, including Down syndrome, Edwards syndrome, or Patau syndrome as early as eight weeks into your pregnancy.
Carrier Screening
Offered at any time before or during pregnancy, carrier screening lets reproductive partners know if they carry a genetic change for a serious condition including spinal muscular atrophy, cystic fibrosis, fragile X syndrome, and more.
Common questions about prenatal screening
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Why screen if I wouldn’t do anything differently?
Genetic screening during pregnancy can’t change the existence of a condition. But it can help you understand your options, prepare for, and in some instances, get early interventions that can greatly help your baby. For example, carrier screening done before pregnancy can give hopeful parents-to-be more reproductive options.
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What are the primary conditions that prenatal screenings look for?
The American College of Obstetricians and Gynecologists recommends that all pregnancies be screened for Down syndrome, Edwards syndrome, and Patau syndrome through cell-free DNA screening and for cystic fibrosis and spinal muscular atrophy through carrier screening.3,4
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Are all screens the same?
There are two types of screens: A cell-free DNA prenatal screen is given as early as eight weeks to determine the chances there have been certain changes in your baby’s chromosomes. A carrier screen can be given at any time, even before pregnancy, to show if you are at increased or decreased risk for passing down certain heritable conditions to your baby. There’s even a screen that can determine your baby’s predicted sex as early as six weeks.
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Is prenatal screening reliable?
Yes. Cell-free DNA screens, like the Prequel Prenatal Screen can deliver results to over 99% of patients regardless of BMI.5 And, carrier screens such as the Foresight Carrier Screen have a detection rate of over 99% for the majority of the conditions they test for.6 However, not all screening labs give you these results. It’s important to choose the screen that gives you reliable and timely information to better manage your pregnancy journey.
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Can employers discriminate based upon genetic information?
It is illegal for employers to discriminate against employees or applicants based upon genetic information. For more information visit the EEOC website.
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What’s the likelihood of my baby having a genetic condition?
Every baby and family history is different. Most babies with genetic diseases are born to parents with no known family history of that disease.7 However the vast majority of babies screened have significantly reduced chances of having the conditions screened for.
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Do you need to be pregnant to get carrier screening?
No. In fact, carrier screening before pregnancy can reveal if one or both parents are at increased risk of passing down an inherited condition.
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Is prenatal screening potentially dangerous for the baby?
Prenatal genetic screening is non-invasive and typically involves a blood or saliva sample from the parents that poses no risk to them or the pregnancy.
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How much does prenatal screening usually cost?
Health insurance often covers the entire cost for prenatal screening. Other patients may qualify for greatly reduced costs, depending upon their medical and financial circumstances. Contact the genetic lab of your choice to learn more about their affordability programs.
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Can I skip screening if there are no inherited diseases in my family?
Even if you’re not aware of a history of inherited genetic conditions, regardless of ancestry, any baby can be born with a genetic or chromosome condition. And most babies with genetic diseases are born to parents with no known family history of that disease.7
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Do I need to screen for genetic conditions even though I am young?
Yes! Heritable conditions can be passed down to a baby, regardless of the parents’ age, just as was the case for Ashley. Experts recommend that every hopeful parent-to-be has a chance to get a carrier screen. And regardless of family history, or the mother’s age, any baby can have a chromosome condition.
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What if I get screened, get the results, and still have questions?
Your provider will answer any questions you may have and may even connect you with a genetic counselor. Most genetic labs give you the option to schedule an educational consultation with a board-certified genetic counselor to go over your results.
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Should I get screened with every pregnancy?
It depends on the screen/test! For a fetal sex test, getting screened each time will tell you the sex of the baby you are currently pregnant with. For a cell-free DNA (cfDNA) screen, since the screen is looking at the DNA from the pregnancy, medical experts recommend each pregnancy gets screened. For a carrier screen, it depends. Talk to your HCP to see what’s most appropriate for your situation. Factors like the size of the original panel you screened with and family history might influence this decision.
REFERENCES
- 2024 Myriad Genetics Health Survey.
- Sneakpeektest. https://sneakpeektest.com/wp-content/uploads/2021/01/Large-scale-follow-up-research-study-SneakPeek-Early-Gender-DNA-Test-99.9-Accurate.pdf. Accessed April 12, 2024.
- American College of Obstetricians and Gynecologists’ Committee on Practice Bulletins—Obstetrics Committee on Genetics Society for Maternal-Fetal Medicine. Screening for Fetal Chromosomal Abnormalities: ACOG Practice Bulletin, Number 226. Obstet. Gynecol. 2020;136(4):e48-e69. doi:10.1097/AOG.0000000000004084.
- Committee Opinion No. 690 Summary: Carrier Screening in the Age of Genomic Medicine. Obstet. Gynecol. 2017:129(3):595-596. doi:10.1097/AOG.0000000000001947.
- Hancock S, et al. Clinical experience across the fetal‐fraction spectrum of a non‐invasive prenatal screening approach with low test‐failure rate. Ultrasound Obstet. Gynecol. 2020;56(3):422-430. doi:10.1002/uog.21904.
- Foresight® Residual Risk Table. https://myriad-library.s3.amazonaws.com/mwh/disease-detection-fact-sheet.pdf. Accessed December 21, 2023.
- Morris JK, et al. Is cascade testing a sensible method of screening a population for autosomal recessive disorders? Am. J. Med. Genet. A. 2004;128A(3):271-275. doi:10.1002/ajmg.a.30024.
