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ARTICLES: Xin-Yan Lu, Mai T. Phung, Chad A. Shaw, Kim Pham, Sarah E. Neil, Ankita Patel, Trilochan Sahoo, Carlos A. Bacino, Pawel Stankiewicz, Sung-Hae Lee Kang, Seema Lalani, A. Craig Chinault, James R. Lupski, Sau W. Cheung, and Arthur L. Beaudet Genomic Imbalances in Neonates With Birth Defects: High Detection Rates by Using Chromosomal Microarray Analysis Pediatrics 2008; 122: 1310-1318 [Abstract] [Full text] [PDF]

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Chromosomal microarray and birth defects in the community setting

Robert J Wallerstein, Balaji Govidaswami and Dongli Song   (20 February 2009)

Chromosomal microarray and birth defects in the community setting 20 February 2009
Robert J Wallerstein, Medical Geneticist Santa Clara Valley Medical Center, Balaji Govidaswami and Dongli Song Send letter to journal: Re: Chromosomal microarray and birth defects in the community setting robert.wallerstein{at}hhs.sccgov.org Robert J Wallerstein, et al.	To the Editor: We are encouraged by the recent study by Lu et al (2008) using chromosomal microarray analysis (CMA) in determining the frequency of genomic imbalances in neonates with birth defects and are intrigued by their observations. In recently establishing a regionalized approach to Perinatal- Neonatal Genetics in a large metropolitan area our very preliminary findings also suggest that CMA adds more informed decision and expectations management for families early in the care of newborns with birth defects. In a tricampus general population-based program with ~10,000 livebirths annually, 31 genetics consults (1.25% of newborns during this period) were obtained for evaluation of newborns with clinically significant birth defects in the period from October 2008-December 2008. Of these, 6 were abnormal using karyotype abnormalities with a further 3 identifying abnormalities by CMA. Thus the increased detection rate by CMA in our community-based experience is 9.7%. The following observations are pertinent to our early experience: 1. While improved methodologies offer the promise of increased CMA detection of genomic imbalances in infants with significant birth defects, the complex referral pattern of infants with birth defects will lead to selection bias in different centers/populations studied. It is plausible that the “true” prevalence of CMA detection may not be as high as that suggested by Lu et al in a general population based approach. 2. An urgent need exists for education of community based health care providers that see large volumes of “well” babies to streamline referrals to regionalized programs to optimize our cumulative experience in establishing systems that allow affected newborns early access to health care resources. 3. The increased cost of this testing has public health implications. Standards of care for utilization of this new technology need to be developed. Discussion of public health and cost-implications are important to advocate effectively for early access to optimize health care outcomes. 4. An urgent need exists for registry-based approaches for sharing information between laboratories and clinicians in optimizing our ability to understand genotype-phenotype correlates and better define the true prevalence of genomic imbalances in newborns with serious birth defects.This is critical to better counsel affected families prospectively. Balaji Govindaswami, MBBS, MPH Chief, Division of Neonatology Dongli Song MD, PhD Associate Chief, Division of Neonatology Robert Wallerstein, MD Director, South Bay Regional Genetics Center, Department of Pediatrics, Santa Clara County Health and Hospital System, San Jose, California Lu et al. Genomic imbalances in neonates with birth defects: high detection rates by using chromosomal microarray analysis. Pediatrics. 2008 Dec;122(6):1310-8. Conflict of Interest: None declared