Obstetricians and gynecologists' practice and opinions of expanded carrier testing and noninvasive prenatal testing

Ram, 2010, Best practices: antenatal screening for common genetic conditions other than aneuploidy, Curr Opin Obstet Gynecol, 22, 139, 10.1097/GCO.0b013e3283372379

Grody, 2004, The cystic fibrosis ‘arms race’: when less is more, Genet Med, 6, 387

Grody, 2011, Expanded carrier screening and the law of unintended consequences: from cystic fibrosis to fragile X, Genet Med, 13, 996, 10.1097/GIM.0b013e31823c49a2

Lazarin, 2013, An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals, Genet Med, 15, 178, 10.1038/gim.2012.114

Bell, 2011, Carrier testing for severe childhood recessive diseases by next-generation sequencing, Sci Transl Med, 3, 65ra4, 10.1126/scitranslmed.3001756

Kingsmore, 2012, Comprehensive carrier screening and molecular diagnostic testing for recessive childhood diseases, PLoS Curr., 4, e4f9877ab8ffa9, 10.1371/4f9877ab8ffa9

Schrijver, 2012, Opportunities and challenges associated with clinical diagnostic genome sequencing: a report of the Association for Molecular Pathology, J Mol Diagn, 14, 525, 10.1016/j.jmoldx.2012.04.006

Bianchi, 2012, From prenatal genomic diagnosis to fetal personalized medicine: progress and challenges, Nat Med, 18, 1041, 10.1038/nm.2829

Moise, 2013, Circulating cell-free fetal DNA for the detection of RHD status and sex using reflex fetal identifiers, Prenat Diagn, 33, 95, 10.1002/pd.4018

Devaney, 2011, Noninvasive fetal sex determination using cell-free fetal DNA, JAMA, 306, 627, 10.1001/jama.2011.1114

Benn, 2013, Non-invasive prenatal testing for aneuploidy: current status and future prospects, Ultrasound Obstet Gynecol, 42, 15, 10.1002/uog.12513

Kitzman, 2012, Noninvasive whole-genome sequencing of a human fetus, Sci Transl Med, 4, 137ra76, 10.1126/scitranslmed.3004323

Stoll, 2013, Considering the cost of expanded carrier screening panels, Genet Med, 15, 318, 10.1038/gim.2013.18

Devers, 2013, Noninvasive prenatal testing/noninvasive prenatal diagnosis: the position of the National Society of Genetic Counselors, J Genet Couns, 22, 291, 10.1007/s10897-012-9564-0

Morgan, 2004, Practice patterns of obstetrician-gynecologists regarding preconception and prenatal screening for cystic fibrosis, Genet Med, 6, 450, 10.1097/01.GIM.0000139509.04177.4B

Prior, 2008, Carrier screening for spinal muscular atrophy, Genet Med, 10, 840, 10.1097/GIM.0b013e318188d069

ACOG Committee on Genetics, 2009, ACOG committee opinion No. 432: spinal muscular atrophy, Obstet Gynecol, 113, 1194, 10.1097/AOG.0b013e3181a6d03a

Gross, 2008, Carrier screening in individuals of Ashkenazi Jewish descent, Genet Med, 10, 54, 10.1097/GIM.0b013e31815f247c

ACOG Committee on Genetics, 2004, ACOG committee opinion. Number 298, August 2004. Prenatal and preconceptional carrier screening for genetic diseases in individuals of Eastern European Jewish descent, Obstet Gynecol, 104, 425, 10.1097/00006250-200408000-00050

Grody, 2013, ACMG position statement on prenatal/preconception expanded carrier screening, Genet Med, 15, 482, 10.1038/gim.2013.47

Green, 2013, ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing, Genet Med, 15, 565, 10.1038/gim.2013.73

Palomaki, 2011, DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study, Genet Med, 13, 913, 10.1097/GIM.0b013e3182368a0e

Wilson, 2013, NSGC practice guideline: prenatal screening and diagnostic testing options for chromosome aneuploidy, J Genet Couns, 22, 4, 10.1007/s10897-012-9545-3

American College of Obstetricians and Gynecologists Committee on Genetics, 2012, Committee opinion no. 545: noninvasive prenatal testing for fetal aneuploidy, Obstet Gynecol, 120, 1532, 10.1097/01.AOG.0000423819.85283.f4

Gregg, 2013, ACMG statement on noninvasive prenatal screening for fetal aneuploidy, Genet Med, 15, 395, 10.1038/gim.2013.29

Benn, 2013, Position statement from the Aneuploidy Screening Committee on behalf of the Board of the International Society for Prenatal Diagnosis, Prenat Diagn, 33, 622, 10.1002/pd.4139

Allyse, 2013, Best ethical practices for clinicians and laboratories in the provision of non-invasive prenatal testing, Prenat Diagn, 33, 656, 10.1002/pd.4144

Benn, 2012, Non-invasive prenatal diagnosis for Down syndrome: the paradigm will shift, but slowly, Ultrasound Obstet Gynecol, 39, 127, 10.1002/uog.11083

Zimmermann, 2012, Noninvasive prenatal aneuploidy testing of chromosomes 13, 18, 21, X, and Y, using targeted sequencing of polymorphic loci, Prenat Diagn, 32, 1233, 10.1002/pd.3993

Presidential Commission for the Study of Bioethical Issues Privacy and progress in whole genome sequencing http://bioethics.gov/cms/sites/default/files/PrivacyProgress508_1.pdf

Benn, 2010, Ethical challenges in providing noninvasive prenatal diagnosis, Curr Opin Obstet Gynecol, 22, 128, 10.1097/GCO.0b013e3283372352

2010, Registries for Evaluating Patient Outcomes: A User's Guide, 2

Carmichael, 2011, A spot of trouble, Nature, 475, 156, 10.1038/475156a

Ready, 2012, Knowledge and attitudes regarding expanded genetic carrier screening among women's healthcare providers, Fertil Steril, 97, 407, 10.1016/j.fertnstert.2011.11.007

Cuckle, 2013, Maternal cfDNA screening for Down syndrome - a cost sensitivity analysis, Prenat Diagn, 33, 636, 10.1002/pd.4157