- Recommended: AAP, ACMG, AAN, and CNS recommended first-line genetic test
- Effective: Improve detection by 11–15% over karyotype with higher resolution & whole-genome coverage
- Affordable: With Progenity’s Peace of Mind program for patients
Children with a clinical diagnosis of developmental delay and intellectual disability face
lifelong challenges, including difficulties with physical movement, learning and social
interaction. Early intervention is the key to providing better outcomes for children with
these conditions, but opportunities for early treatment and intervention are often lost
during the lengthy diagnostic journey.1
- The prevalence of children with developmental delay is between 1% and 3%.2,3
- The prevalence of intellectual disability is estimated to be between 1% and 3%.3
- 1 in 33 babies in the US is born with congenital anomalies.4
- Developmental delay and intellectual disability can frequently present in association with one or more congenital anomalies or dysmorphic features.
While there are other known causative factors, research shows that the largest underlying etiology of intellectual disability is genetic.5
Unlock the Answer with CMA
Chromosomal microarray analysis (CMA) and Fragile X analysis are first steps in revealing
the underlying genetic causes of developmental delay, intellectual disability, congenital
anomalies or dysmorphic features. In particular, genome-wide arrays that detect copy
number changes of ~100kb, such as this, can increase detection by 11–15% for patients
with previously non-informative chromosome analysis.6-8
The professional organizations listed below all recommend CMA as the first-line genetic test:
- American Academy of Pediatrics (AAP)
- American College of Medical Genetics (ACMG)
- American Academy of Neurology (AAN)
- Child Neurology Society (CNS)
FDA-Cleared Indications For Testing
- Developmental delay
- Intellectual disability
- Congenital anomalies
- Dysmorphic features
Benefits of Progenity’s Chromosomal Microarray Analysis
1. Shevell, M., et al. Practice parameter: evaluation of a child with global developmental delay. Neurology 60(3):367-380 (2003).
2. Boyle C. A., et al. Trends in the prevalence of developmental disabilities in US children. Pediatrics 127(6):1034–1042 (2011).
3. Moeschler, J. B., et al. Comprehensive Evaluation of the Child with Intellectual Disability or Global Developmental Delays. Pediatrics 134(3):e903-18 (2014).
4. Heron M. P., et al. Deaths: Final data for 2006. National Vital Statistics Reports 57(14):1–136 (2009).
5. Leonard H., Wen X. The epidemiology of mental retardation: challenges and opportunities in the new millennium. Mental Retardation and Developmental Disabilities Research Review 8(3):117–134 (2002).
6. Friedman J.M., et al. Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation. American Journal Human Genetics 79:500-514 (2006).
7. Fan Y.S., et al. Detection of pathogenic gene copy number variations in patients with mental retardation by genome wide oligonucleotide array comparative genomic hybridization. Human Mutation 28:1124-1132 (2007).
8. Vermeesch J.R., et al. Guidelines for molecular karyotyping in constitutional genetic diagnosis. European Journal Human Genetics 15:1105-1113 (2007).
The Affymetrix CytoScan® Dx Assay has been cleared by the U.S. Food & Drug Administration and its performance characteristics have been verified by Progenity, Inc. This test should not be used for stand-alone diagnostic purposes, pre-implantation or prenatal testing or screening, population screening, or for the detection of, or screening for acquired or genetic aberrations occurring after birth, such as cancer. The test results should only be used in conjunction with other clinical and diagnostic findings, consistent with professional standards of practice, including confirmation by alternative methods, evaluation of parental samples, clinical genetic evaluation, and counseling as appropriate. For further information regarding intended use and limitations, see http://www.affymetrix.com/cytoscandx.