Large-scale cytogenomic analysis of samples from conception to childhood: a comprehensive assessment of the landscape of unbalanced genomic abnormalities.

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Trilochan Sahoo, MD, FACMG, Natasa Dzidic, MS, Michelle N. Strecker, MS, Sara Commander, MS, Mary K. Travis, MS, Lori Drugan, Charles E. Doherty and Karine Hovanes, PhD
 

 

Preimplantation Genetic Testing

  1. Unraveling the Diverse Landscape of Genomic Abnormalities From Conception to Childhood. Trilochan Sahoo, MD, FACMG, Natasa Dzidic, MS, Michelle N. Strecker, MS, Sara Commander, MS, Mary K. Travis, MS, and Karine Hovanes, PhD Read Article

Prenatal Microarray

  1. ACOG Committee Opinion No. 682 (replaces No. 582): Microarrays and Next-Generation Sequencing Technology: The Use of Advanced Genetic Diagnostic Tools in Obstetrics and Gynocology Committee Opinion No. 682. American College of Obstetricians and Gynecologists. Obstet Gynecol 2016;128:e262-8 Read Article
  2. ACOG Practice Bulletin No. 163 (replaces practice bulletin No. 77, January 2007): Screening for Fetal Aneuploidy. Practice Bulletin No. 163. American College of Obstetricians and Gynecologists. Obstet Gynecol 2016; Read Article
  3. ACOG Practice Bulletin No. 162 (replaces practice bulletin No. 88, December 2007): Prenatal Diagnostic Testing for Genetic Disorders. Practice Bulletin No. 162. American College of Obstetricians and Gynecologists. Obstet Gynecol 2016 Read Article
  4. Expanding noninvasive prenatal testing to include microdeletions and segmental aneuploidy cause for concern?
    Trilochan Sahoo, MD, Karine Hovanes, PhD , Michelle N. Strecker, MS, Natasa Dzidic, MS, Sara Commander, MS and Mary K. Travis, MS Read Article
  5. Cell free DNA screening is not a simple blood test Read Article
  6. Discordant noninvasive prenatal testing and cytogenetic results: a study of 109 consecutive cases. Jia-Chi Wang and Trilochan Sahoo et al. Read Article 
  7. ACOG Committee Opinion No. 581 (replaces No. 446): The use of chromosomal microarray analysis in prenatal diagnosis. Committee Opinion No. 581. American College of Obstetricians and Gynecologists. Obstet Gynecol 2013;122:1374–7. Read Article
  8. Ob-Gyns Recommend Chromosomal Microarray Analysis for Genetic Evaluation of Fetal Anomalies Read Article
  9. Wapner Paper RJ et al. Chromosomal Microarray versus Karyotyping for Prenatal Diagnosis. NEJM 2012;367(23):2175-84 Read Article
  10. Experience with microarray-based comparative hybridization for prenatal diagnosis in over 5000 pregnancies. Prenat Diagn. 2012;32:967-85. Shaffer LG et al. Read Article
  11. Fruhman G and Van den Veyver IB, “Applications of Array Comparative Genomic Hybridization in Obstetrics”. Obstet Gynecol Clin N Am. 37(1):71-85. PMID: 20494259 Read Article

Microarray for Recurrent Pregnancy Loss

  1. Trilochan Sahoo, MD, FACMG, Natasa Dzidic, MS, Michelle N. Strecker, MS, Sara Commander, MS, Mary K. Travis, MS, Charles Doherty, MS, R. Weslie Tyson, MD, Arturo E. Mendoza, MD, Mary Stephenson, MD, Craig A. Dise, MD, Carlos W. Benito, MD, Mandolin S. Ziadie, MD and Karine Hovanes, PhD Comprehensive genetic analysis of pregnancy loss by chromosomal microarrays: outcomes, benefits and challenges. Read Article
  2. Bernardi et al. Is chromosome testing of the second miscarriage cost saving? A decision analysis of selective versus universal recurrent pregnancy loss evaluation Read Article
  3. Reddy et al. Karyotype versus Microarray Testing for Genetic Abnormalities after Stillbirth Read Article
  4. ACOG Committee Opinion No. 446: array comparative genomic hybridization in prenatal diagnosis. Obstet Gynecol. 2009 Nov; 114(5):1161-3. PMID: 20168129 Read Article
  5. Hockett. Justification for Coverage of Microarray Analysis on Products of Conception (POC). Read Article  
  6. Levi et al. Genomic Imbalance in Products of Conception: Single-Nucleotide Polymorphism Chromosomal Microarray Analysis. Read Article Obstet Gynecol 2014;124:202–9 

Microarray for Pediatric Developmental Disorders

Individuals with Developmental/Intellectual Disabilities, Congenital Anomalies or Autism Spectrum Disorders

  1. Manning M and Hudgins L, “Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities” (2010) American College of Medical Genetics Practice Guidelines. Read Article
  2. Miller DT et al., “Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies”. 2010. Am J M Hum Genet. 86(5):749-764. PMID: 20466091 Read Article
  3. Jorgensen M, McPherson E, Zaleski C, Shivaram P, Cold C. 2014. Stillbirth: The Heart of the Matter. Am J Med Genet Part A 164A:691–699. Read Article
  4. Shen Y et al., “Clinical Genetic Testing for Patients With Autism Spectrum Disorders”. 2010. Pediatrics. 125(4):e727-735. PMID: 20231187 Read Article