Preimplantation Genetic Testing

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

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 https://www.acog.org/-/media/Committee-Opinions/Committee-on-Genetics/co682.pdf?dmc=1&ts=20170818T2229499364
  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; http://www.acog.org/Resources-And-Publications/Practice-Bulletins-List
  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 http://www.acog.org/Resources-And-Publications/Practice-Bulletins-List
  4. Trilochan Sahoo, MD, Karine Hovanes, PhD , Michelle N. Strecker, MS, Natasa Dzidic, MS, Sara Commander, MS and Mary K. Travis, MS Expanding noninvasive prenatal testing to include microdeletions and segmental aneuploidy cause for concern?
  5. Cell free DNA screening is not a simple blood test https://www.smfm.org/publications/183-cell-free-dna-screening-is-not-a-simple-blood-test
  6. Jia-Chi Wang and Trilochan Sahoo et al. Discordant noninvasive prenatal testing and cytogenetic results: a study of 109 consecutive cases.  
  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.  http://www.acog.org/~/media/Committee%20Opinions/Committee%20on%20Genetics/co581.pdf?dmc=1&ts=20131202T1839373903
  8. Ob-Gyns Recommend Chromosomal Microarray Analysis for Genetic Evaluation of Fetal Anomalies http://www.acog.org/About_ACOG/News_Room/News_Releases/2013/Ob-Gyns_Recommend_Chromosomal_Microarray_Analysis
  9. Wapner Paper RJ et al. Chromosomal Microarray versus Karyotyping for Prenatal Diagnosis. NEJM 2012;367(23):2175-84 www.nejm.org/doi/full/10.1056/NEJMoa1203382 
  10. Shaffer LG et al. Experience with microarray-based comparative hybridization for prenatal diagnosis in over 5000 pregnancies. Prenat Diagn. 2012;32:967-85
  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 (http://www.ncbi.nlm.nih.gov/pubmed/20494259)

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
  2. Bernardi et al. Is chromosome testing of the second miscarriage cost saving? A decision analysis of selective versus universal recurrent pregnancy loss evaluation http://www.deepdyve.com/lp/elsevier/is-chromosome-testing-of-the-second-miscarriage-cost-saving-a-decision-hxxpbi0In2/1
  3. Reddy et al. Karyotype versus Microarray Testing for Genetic Abnormalities after Stillbirth http://www.nejm.org/doi/full/10.1056/NEJMoa1201569
  4. ACOG Committee Opinion No. 446: array comparative genomic hybridization in prenatal diagnosis. Obstet Gynecol. 2009 Nov; 114(5):1161-3. PMID: 20168129 (http://www.ncbi.nlm.nih.gov/pubmed/20168129)
  5. Hockett. Justification for Coverage of Microarray Analysis on Products of Conception (POC).  
  6. Levi et al. Genomic Imbalance in Products of Conception: Single-Nucleotide Polymorphism Chromosomal Microarray Analysis 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. http://www.acmg.net/StaticContent/PPG/CMA_2010.pdf
  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 (http://www.ncbi.nlm.nih.gov/pubmed/20466091)
  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. (http://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.36366/abstract)
  4. Shen Y et al., “Clinical Genetic Testing for Patients With Autism Spectrum Disorders”. 2010. Pediatrics. 125(4):e727-735. PMID: 20231187 (http://www.ncbi.nlm.nih.gov/pubmed/20231187)