Early, highly accurate 22q11.2 deletion screening is possible with SNP-based NIPT

22q11.2 deletion syndrome (DS) is caused by a microdeletion in chromosome 22, and detection with ultrasound can be limited. 22q11.2 DS is more common than cystic fibrosis and spinal muscular atrophy. Panorama™ offers non-invasive screening, which can lead to early detection.

^{SNP, single nucleotide polymorphism}

Prenatal diagnosis improves access to personalized care

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22q11.2 DS is common

Up to 1:1,524 pregnancies may be affected by 22q11.2 deletion syndrome. There is currently no newborn screening for this condition.^1-6 Maternal age is not a risk factor for having a pregnancy affected by 22q. Detection with
ultrasound is limited, and nearly 50% of cases with 22q do not have any ultrasound findings.^{7, 8}

Panorama™ offers non-invasive screening which can lead to early detection.

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Early identification matters

Patients visit an average of 7 different clinical specialties before they receive a molecular diagnosis of their condition, and the median time to diagnosis is 4.7 years when not detected prenatally.⁹ Patients with palatal and cardiac anomalies have a shorter average time to diagnosis.⁹

One patient’s journey to a diagnosis.

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Early diagnosis improves outcomes

Families with a prenatal diagnosis can access interventions sooner that can help improve outcomes, and may have the option to deliver at a tertiary center. Families can have calcium-levels monitored at birth, delay live-vaccine administration or have a palatal evaluation for potential feeding and breathing issues.^{10, 11}

Resources for families

ACMG suggests “screening for 22q11.2 deletion syndrome be offered to all patients”^{8, 12}

ACMG highlights the SMART study as the sole clinical study in support of their conditional recommendation (defined as a recommendation based on a moderate certainty of evidence).

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

It’s time to screen routinely for 22q11.2 deletion syndrome: New evidence of improved outcomes with prenatal diagnosis

To manage pregnancies at high risk for 22q11.2 deletion syndrome (DS), prenatal and neonatal evaluation after high risk cfDNA screening is needed.

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22q11.2 DS (DiGeorge syndrome) is more common than other conditions screened for during pregnancy.

22q11.2 DS is the most common cause of syndromic palatal anomalies and most commonly known genetic cause of schizophrenia¹⁷

In a published secondary analysis from SMART, >50% of patients at high risk for 22q by cfDNA screening were discharged without genetic confirmation.¹⁸ Early intervention can reduce the severity of these conditions associated with 22q11.2 deletion syndrome^19-23

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Panorama™’s exceptional 22q screening was validated in SMART

The largest prospective NIPT study¹

20K+

patients enrolled

18K+

patients with genetic confirmation included in the analysis

1 in 1,524

prevalence with 12 cases of 22q identified

83%

Sensitivity
Full and nested deletions (0.5 Mb+)

53%

PPV
Full and nested deletions (0.5 Mb+)

SNP-based NIPT is validated to identify deletions of all sizes

Smaller deletions can have the same degree of severity as full deletions and require similar intervention.²⁴

“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

Donna McDonald-McGinn, MS CGC

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

Prompt diagnosis can play an important role in improving the quality of life for individuals affected by 22q11.2 deletion syndrome. The 22q11.2 community therefore supports early identification including via prenatal and neonatal screening. 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.” ^21-23

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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.

²Ryan et al. Fetal Diagn Ther. 2016;40(3):219-223.

³Wei L et al. Association of maternal risk factors with fetal aneuploidy and the accuracy of prenatal aneuploidy screening: a correlation analysis based on 12,186 karyotype reports. BMC Pregnancy Childbirth. 2023 Mar 2;23(1):136.

⁴Centers for Disease Control and Prevention. National Vital Statistics Reports, Vol. 70, No. 2, March 23, 2021.

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

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

⁷Dar P, Jacobson B, MacPherson C, et al. Cell-free DNA screening for trisomies 21, 18, and 13 in pregnancies at low and high risk for aneuploidy with genetic confirmation. Am J Obstet Gynecol 2022;227:259.e1-14.

⁸Gregg 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.

⁹Palmer et al. Am J Med Genet 2018.

¹⁰Ron HA et al. Improved Outcomes in Patients with 22q11.2 Deletion Syndrome and Diagnosis of Interrupted Aortic Arch Prior to Birth Hospital Discharge, a Retrospective Study. Genes (Basel). 2022 Dec 24;14(1):62.

¹¹Freud et al. Prenatal vs postnatal diagnosis of 22q11.2 deletion syndrome: cardiac and noncardiac outcomes through 1 year of age. Am J Obstet Gynecol. 2023 Sep 16:S0002-9378(23)00611-7. doi:10.1016/j.ajog.2023.09.005. Epub ahead of print.

¹²Dungan et al. Genet Med. 2023: 25 (2) 1098-3600.

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

¹⁴Blagojevic et al. CMAJ Open. 2021 Aug 17;9(3):E802-E809.

¹⁵Snijders RJ, et al. Fetal Diagn Ther. 1995 Nov-Dec; 10(6):356-67.

¹⁶Prior et al. Spinal muscular atrophy. In: Adam et al, eds. GeneReviews. February 24, 2000. Updated December 3, 2020.

¹⁷McDonald-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.

¹⁸Martin 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

¹⁹Morrow et al. Am J Med Genet A. 2018 176(10): 2070-2081.

²⁰Bassett et al. J Pediatr. 2011 Aug; 159(2):332-9.e1.

²¹Cheung et al. Genet Med. 2014 Jan; 16(1):40-4.

²²Grand et al. Am J Med Genet A. 2018 Oct; 176(10):2167-71.

²³McDonald-McGinn et al. 22q11.2 Deletion Syndrome. In: Adam et al., editors. GeneReviews. University of Washington,1993.

²⁴Dar P, Norton ME, Performance of noninvasive prenatal screening for 22q11.2 deletion syndrome in the SMART study. Am J Obstet Gynecol. 2022 doi: https://doi.org/10.1016/j.ajog.2022.01.036.