New Myriad Genetics Study Published in Prenatal Diagnosis Shows High Positive Predictive Value for 22q11.2 Microdeletion Syndrome Using Prequel® Prenatal Screen
“This is now the second publication—one from Myriad and another from a separate laboratory5—showing exemplary PPV for whole-genome-sequencing-based pcfDNA screening.
- “This is now the second publication—one from Myriad and another from a separate laboratory5—showing exemplary PPV for whole-genome-sequencing-based pcfDNA screening.
- This study enables greater confidence for providers when they receive positive screening results for 22q11.2 microdeletion.
- 22q11.2 deletion syndrome (22q11.2DS), often called DiGeorge syndrome, is caused by deletions on chromosome 22 (22q11.2 microdeletions).
- The American College of Medical Genetics and Genomics recently recommended that 22q11.2DS screening be offered to all pregnant patients.