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Early 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.

Prenatal diagnosis improves access to personalized care

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

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

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.7 Patients with palatal and cardiac anomalies have a shorter average time to diagnosis.7

One patient’s journey to a diagnosis.

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.8, 9

Resources for families

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

Watch Our 22q11.2 deletion syndrome Webinar

It’s time to screen routinely for 22q11.2 deletion syndrome: New evidence of improved outcomes with prenatal diagnosis
Date: Thursday, March 7th, 2024
Time: 1:00 PM ET | 10:00 AM PT

22q11.2 DS is more common than other conditions commonly screened for during pregnancy.1,3-6,10

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22q11.2 DS is the most common cause of syndromic palatal anomalies and most commonly known genetic cause of schizophrenia11

Early intervention can reduce the severity of these conditions associated with 22q11.2 deletion syndrome12-16

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

The largest prospective NIPT study1

>99.9%

sensitivity
Most common deletion
size (2.5 Mb+)

83%

sensitivity
Full and nested
deletions (0.5 Mb+)

53%

PPV
Full and nested
deletions (0.5 Mb+)
“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

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,” said Professor Donna McDonald-McGinn, 22q11.2 society chair, 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.” 17-19

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References

1 Dar 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.

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

3 Wei 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.

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

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

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

7 Palmer et al. Am J Med Genet 2018.

8 Ron 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.

9 Freud 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.

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

11 McDonald-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.

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

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

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

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

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

17 Bassett AS et al. Practical guidelines for managing patients with 22q11.2 deletion syndrome. J Pediatr. 2011;159(2): 332–339.

18 Cheung ENM et al. Neonatal hypocalcemia, neonatal seizures, and intellectual disability in 22q11.2 deletion syndrome. Genet Med. 2014;16(1):40-44.

19 Grand K et al. The impact of hypocalcemia on full scale IQ in patients with 22q11.2 deletion syndrome. Am J Med Genet A. 2018;176(10):2167-2171.

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