Don’t miss pregnancies affected by 22q11.2 deletion syndrome

Choose high detection screening, including the highest published clinical sensitivity¹

22q (DiGeorge Syndrome) is more common than most ACOG recommended conditions

Maternal age is not a risk factor for having a pregnancy affected with 22q.^1-9

pregnant woman cradles her stomach highlighting the importance of screening for 22q

The evolution of NIPT: what comes next

In this webinar presented by Dr Samantha Leonard MBBS BSc MA PhD MRCPCH, will highlight how early, highly accurate prenatal screening optimizes outcomes for patients with 22q11.2 deletion syndrome.

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Affected pregnancies could be missed by lower detection 22q tests

Panorama™ detects 22q with the highest published clinical sensitivity from the largest, prospective NIPT study ever performed.¹

Hear about Panorama’s performance in SMART

There is currently no newborn screening for 22q

Nearly 50% of cases with 22q do not have any ultrasound findings^10,11

Donna McDonald-McGinn, MS CGC

Chair of the 22q11.2 Society, Children's Hospital of Philadelphia, and University of Pennsylvania

Importantly, prenatal suspicion of 22q11.2 deletion syndrome allows for evaluation, confirmatory testing, and delivery at high-level healthcare facilities where neonates have access to potentially life-saving interventions including cardiac surgery, as well as treatment for other key features such as low calcium, immune deficiency, feeding, swallowing and breathing issues, all with the goal of optimizing long-term outcome while obviating the protracted diagnostic odyssey frequently traversed by families.” ^12-14

“I wish that my OBGYN had offered me the test. I didn’t know that was an option… for what was a simple blood draw, to know that my odds could have indicated very accurately what I had coming my way, would have been life-changing.”

Lauren

Patient

22q11.2 DS is the most common cause of syndromic palatal anomalies and most commonly known genetic cause of schizophrenia

In a published secondary analysis from SMART, >50% of patients at high risk for 22q by cfDNA screening were discharged without genetic confirmation.¹⁶ Early intervention can reduce the severity of these conditions associated with 22q11.2 deletion syndrome^{12-14, 17, 18}

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References

¹Dar et al. Cell-free DNA screening for prenatal detection of 22q11.2 deletion syndrome. Am J Obstet Gynecol. 2022 Jul;227(1):79.e1-79.e11.

²Dar et al. Am J Obstet Gynecol. 2022 Aug;227(2):259.e1-259.e14.

³Gregg AR 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 Oct;18(10):1056-65.

⁴Blagojevic et al. CMAJ Open. 2021 Aug 17;9(3):E802-E809.

⁵Hamosh et al. J Pediatr. 1998;132(2):255-259.

⁶O’Sullivan, Freedman. Lancet. 2009;373(9678):1891-1904.

⁷Prior et al. Spinal muscular atrophy. In: Adam et al, eds. GeneReviews. February 24, 2000.

⁸Snijders et al. Ultrasound Obstet Gynecol. 1999;13(3):167-170.

⁹Snijders RJ, et al. Fetal Diagn Ther. 1995 Nov-Dec; 10(6):356-67.

¹⁰Dinonno et al. Performance of SNP-based Cell-free DNA Prenatal Screening for 22q11.2 Deletion Syndrome in a Commercial Population, Society for Maternal-Fetal Medicine Pregnancy Meeting, February 2024, National Harbor, MD.

¹¹Palmer et al. Am J Med Genet. 2018.

¹²Cheung et al. Genet Med. 2014 Jan; 16(1):40-4.

¹³Grand et al. Am J Med Genet A. 2018 Oct; 176(10):2167-71.

¹⁴McDonald-McGinn et al. 22q11.2 Deletion Syndrome. In: Adam et al., editors. GeneReviews. University of Washington,1993.

¹⁵McDonald-McGinn DM, Sullivan KE, Marino B, Philip N, Swillen A, Vorstman JA, Zackai EH, Emanuel BS, Vermeesch JR, Morrow BE, Scambler PJ, Bassett AS. 22q11.2 deletion syndrome. Nat Rev Dis Primers. 2015 Nov 19;1:15071.

¹⁶Martin K, Norton ME, MacPherson C, et al. Impact of high-risk prenatal screening results for 22q11.2 deletion syndrome on obstetric and neonatal management: Secondary analysis from the SMART study. Prenat Diagn. 2023;43(13):1574-1580. doi:10.1002/pd.6483.

¹⁷Morrow et al. Am J Med Genet A. 2018 176(10): 2070-2081.

¹⁸Bassett et al. J Pediatr. 2011 Aug; 159(2):332-9.e1.