All pregnancies can benefit from genetic testing

Genetic testing is important for every pregnancy—not just for women who are at high risk.¹,²
Female in gray shirt with hands resting on pregnant stomach
Couples hands in shape with green overlay

Most couples don’t know they’re at risk

Most babies born today with a genetic condition have parents with no symptoms or family history of the disorder.³

  • 1 in 45 people are carriers for cystic fibrosis⁴
  • 1 in 49 people are carriers for spinal muscular atrophy⁴
  • 1 in 150 newborns have a chromosomal abnormality¹
  • Fetal chromosomal abnormalities can affect women at any age and are not related to race or ethnicity¹

ACOG guidelines recommend offering cell-free DNA screening and carrier screening to all women—regardless of age or risk¹﹐²

All women, regardless of age, are at risk of chromosomal abnormalities

Although women over 35 are more likely to experience fetal chromosomal abnormalities, younger women are still at risk. In fact, most children with Down syndrome are born to women under 36.¹
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Non-invasive prenatal screening (NIPS) is more accurate than serum or ultrasound screening alone¹,
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At age 25, the risk of chromosomal abnormalities is 1 in 119; at age 35, it is 1 in 84¹
Couple faces looking at each other in shape

Carrier screening for both parents can help you plan for a healthy delivery

It’s crucial to screen both parents to uncover potential risks to the baby. Screening a couple at the same time—ideally before pregnancy or early in pregnancy—enables more time for additional testing and planning.² With the results from couple carrier screening, you can:

  • Give couples the most accurate picture of potential genetic risks⁶
  • Identify women who need additional testing, such as prenatal diagnostic testing⁵
  • Refer patients to a maternal fetal medicine specialist, when needed⁷
  • Plan for delivery at a hospital that specializes in high-risk deliveries and newborn care
  • Help women find support groups to connect with other parents⁷

When you offer comprehensive genetic testing to everyone, you’re doing everything possible to help your patients prepare for the future

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ACOG=American College of Obstetrics and Gynecology

References

1. Screening for fetal chromosomal abnormalities: ACOG Practice Bulletin No. 226. American College of Obstetricians and Gynecologists. Obstet Gynecol. 2020;136(4):e48-e69.
2. Committee Opinion No. 691: Carrier screening for genetic conditions. American College of Obstetricians and Gynecologists. Obstet Gynecol. 2017;129(3):e41-e55.
3. Morris JK, Law MR, Wald NJ. 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.
4. Data on file. Invitae.
5. Gregg AR, Skotko BG, Benkendorf JL, et al. Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics. Genet Med. 2016;18(10):1056-1065. doi.org/10.1038/gim.2016.97.
6. Committee Opinion No. 690: Carrier screening in the age of genomic medicine. American College of Obstetricians and Gynecologists. Obstet Gynecol. 2017;129(3):e35-e40.
7. Kaimal A, Norton ME. Society for Maternal-Fetal Medicine Consult Series #55: Counseling women at increased risk of maternal morbidity and mortality. Am J Obstet Gynecol. 2021;224(4):B16-B23. doi:10.1016/j.ajog.2020.12.007.