Early and highly accurate 22q11.2 deletion screening is possible with SNP-based NIPT
Panorama AI was validated in SMART, the largest prospective NIPT study, combining artificial intelligence (AI) with Natera’s proprietary SNP-based methodology to improve both accuracy and the positive predictive value (PPV) for 22q11.2 deletions.1-3
Register to view the webinar.
Watch a short video on SMART: 22q11.2 deletion syndrome findings
Lauren’s son Parker was diagnosed with 22q11.2 deletion syndrome at 18 months of age. Watch as she shares her family’s journey to a diagnosis.
22q11.2 deletion syndrome prevalence compared to commonly screened conditions
22q11.2 deletion syndrome is more common than cystic fibrosis and spinal muscular atrophy. It can affect any pregnancy and detection with ultrasound is limited.2 Panorama offers non-invasive, accurate screening for early detection.
Importance of early screening
Watch this brief video from Dr. Samantha Leonard at the 2021 ISPD conference discussing prenatal interventions to help improve outcomes such as:
- Delivery at tertiary center
- Calcium-level monitoring at birth
- Delayed live-vaccine administration
- Palatal evaluation for potential feeding and breathing issues
Children who are not diagnosed prenatally can have an extensive diagnostic odyssey. The average age of diagnosis is almost five years old.
22q11.2: The Value of Prenatal Diagnosis
Professor Jon Hyett
Head of High Risk Obstetrics at Royal Prince Alfred Hospital, Sydney
Natera Academy | 22q11.2: Expanding the NIPT Paradigm
Created by Natera’s Medical Directors and Genetic Counselors, Natera Academy offers educational resources for healthcare providers. Watch this short take on NIPT screening for 22q11.2 deletions.
1Dar et al. Multicenter prospective study of SNP-based cfDNA screening for aneuploidy with genetic confirmation in 18,497 pregnancies. Society of Maternal-Fetal Medicine (SMFM); January 25-30, 2021; virtual meeting.
2Dar et al. Multicenter prospective study of SNP-based cfDNA for 22q11.2 deletion in 18,290 pregnancies with genetic confirmation. Society of Maternal-Fetal Medicine (SMFM); January 25-30, 2021; virtual meeting.
3Norton et al. Perinatal and genetic outcomes associated with no call cfDNA results in 18,497 pregnancies. Society of Maternal-Fetal Medicine (SMFM); January 25-30, 2021; virtual meeting.
4Snijders et al. Ultrasound Obstet Gynecol. 1999;13(3):167-170.
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. Updated December 3, 2020.