Publications by authors named "Lyn S Chitty"

99Publications

Cell-Free DNA in Pediatric Solid Organ Transplantation Using a New Detection Method of Separating Donor-Derived from Recipient Cell-Free DNA.

Clin Chem 2020 Oct;66(10):1300-1309

Department of Paediatric Nephrology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.

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http://dx.doi.org/10.1093/clinchem/hvaa173DOI Listing
October 2020

Young people's understanding, attitudes and involvement in decision-making about genome sequencing for rare diseases: A qualitative study with participants in the UK 100, 000 Genomes Project.

Eur J Med Genet 2020 Nov 22;63(11):104043. Epub 2020 Aug 22.

London North Genomic Laboratory Hub, Great Ormond Street Hospital, London, UK; Early Disease Detection Research Project UK Ltd, London, UK.

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http://dx.doi.org/10.1016/j.ejmg.2020.104043DOI Listing
November 2020

The 2019 Malcolm Ferguson-Smith Young Investigator Award.

Prenat Diagn 2020 06;40(7):763-765

John Wiley & Sons Ltd, Oxford, UK.

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http://dx.doi.org/10.1002/pd.5763DOI Listing
June 2020

Delivering genome sequencing for rapid genetic diagnosis in critically ill children: parent and professional views, experiences and challenges.

Eur J Hum Genet 2020 Nov 19;28(11):1529-1540. Epub 2020 Jun 19.

North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.

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http://dx.doi.org/10.1038/s41431-020-0667-zDOI Listing
November 2020

Couples experiences of receiving uncertain results following prenatal microarray or exome sequencing: A mixed-methods systematic review.

Prenat Diagn 2020 07 24;40(8):1028-1039. Epub 2020 May 24.

London North Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.

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http://dx.doi.org/10.1002/pd.5729DOI Listing
July 2020

The role of sonographic phenotyping in delivering an efficient noninvasive prenatal diagnosis service for FGFR3-related skeletal dysplasias.

Prenat Diagn 2020 06 25;40(7):785-791. Epub 2020 May 25.

North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.

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http://dx.doi.org/10.1002/pd.5687DOI Listing
June 2020

Current controversies in prenatal diagnosis 2: The 59 genes ACMG recommends reporting as secondary findings when sequencing postnatally should be reported when detected on fetal (and parental) sequencing.

Prenat Diagn 2020 Feb 24. Epub 2020 Feb 24.

Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, Texas, USA.

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http://dx.doi.org/10.1002/pd.5670DOI Listing
February 2020

Parents' motivations, concerns and understanding of genome sequencing: a qualitative interview study.

Eur J Hum Genet 2020 Jul 30;28(7):874-884. Epub 2020 Jan 30.

London North Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.

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http://dx.doi.org/10.1038/s41431-020-0575-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7316711PMC
July 2020

Noninvasive Prenatal Diagnosis of Single-Gene Diseases: The Next Frontier.

Clin Chem 2020 01;66(1):53-60

London North Genomic Laboratory Hub, Great Ormond Street NHS Foundation Trust, London, UK.

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http://dx.doi.org/10.1373/clinchem.2019.304238DOI Listing
January 2020

Delivering genome sequencing in clinical practice: an interview study with healthcare professionals involved in the 100 000 Genomes Project.

BMJ Open 2019 11 3;9(11):e029699. Epub 2019 Nov 3.

North East Thames Regional Genetics Service, Great Ormond Street Hospital For Children NHS Foundation Trust, London, UK.

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http://dx.doi.org/10.1136/bmjopen-2019-029699DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6858183PMC
November 2019

Minimally invasive autopsy for fetuses and children based on a combination of post-mortem MRI and endoscopic examination: a feasibility study.

Health Technol Assess 2019 08;23(46):1-104

Department of Histopathology, Great Ormond Street Hospital for Children NHS Foundation Trust and Institute of Child Health/University College London, London, UK.

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http://dx.doi.org/10.3310/hta23460DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6732714PMC
August 2019

Ultrasound examination: The key to maximising the benefits of advances in molecular diagnostic technologies.

Authors:
Lyn S Chitty

Prenat Diagn 2019 08;39(9):663-665

Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.

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http://dx.doi.org/10.1002/pd.5537DOI Listing
August 2019

The 2018 Malcolm Ferguson-Smith Young Investigator Award.

Prenat Diagn 2019 09 15;39(10):835-837. Epub 2019 Aug 15.

John Wiley and Sons, Oxford, UK.

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http://dx.doi.org/10.1002/pd.5533DOI Listing
September 2019

Development of a measure of genome sequencing knowledge for young people: The kids-KOGS.

Clin Genet 2019 11 30;96(5):411-417. Epub 2019 Jul 30.

North East Thames Regional Genetics Services, Great Ormond Street Hospital NHS Foundation Trust, London, UK.

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http://dx.doi.org/10.1111/cge.13607DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6851564PMC
November 2019

A sonographic approach to the prenatal diagnosis of skeletal dysplasias.

Prenat Diagn 2019 08 14;39(9):701-719. Epub 2019 Jul 14.

Great Ormond Street NHS Foundation Trust and the UCL Great Ormond Street Institute of Child Health, London, UK.

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http://dx.doi.org/10.1002/pd.5501DOI Listing
August 2019

Update on the use of exome sequencing in the diagnosis of fetal abnormalities.

Eur J Med Genet 2019 Aug 11;62(8):103663. Epub 2019 May 11.

Great Ormond Street NHS Foundation Trust, Great Ormond Street, London, UK; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, 30 Guilford St, London, UK. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S17697212193011
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http://dx.doi.org/10.1016/j.ejmg.2019.05.002DOI Listing
August 2019

Is traditional perinatal autopsy needed after detailed fetal ultrasound and post-mortem MRI?

Prenat Diagn 2019 08 15;39(9):818-829. Epub 2019 Apr 15.

Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.

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http://dx.doi.org/10.1002/pd.5448DOI Listing
August 2019

Ensuring high standards for the delivery of NIPT world-wide: Development of an international external quality assessment scheme.

Prenat Diagn 2019 04 12;39(5):379-387. Epub 2019 Mar 12.

CEQAS/GenQA, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.

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http://dx.doi.org/10.1002/pd.5438DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6619285PMC
April 2019

In case you missed it: The prenatal diagnosis editors bring you the most significant advances of 2018.

Prenat Diagn 2019 01;39(2):61-69

North East Thames Regional Genetics Service, Great Ormond Street NHS Foundation Trust, London, UK.

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http://dx.doi.org/10.1002/pd.5407DOI Listing
January 2019

Opening the "black box" of informed consent appointments for genome sequencing: a multisite observational study.

Genet Med 2019 05 1;21(5):1083-1091. Epub 2018 Oct 1.

North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.

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http://www.nature.com/articles/s41436-018-0310-3
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http://dx.doi.org/10.1038/s41436-018-0310-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752270PMC
May 2019

Missed diagnoses of abnormal copy number variant cases: A national epidemic or an endemic at a single institution?

Prenat Diagn 2018 09;38(10):727-729

Great Ormond Street NHS Foundation Trust, London, UK.

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http://doi.wiley.com/10.1002/pd.5287
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http://dx.doi.org/10.1002/pd.5287DOI Listing
September 2018

Next-generation sequencing and the impact on prenatal diagnosis.

Expert Rev Mol Diagn 2018 08 18;18(8):689-699. Epub 2018 Jul 18.

a Genetics and Genomic Medicine , Great Ormond Street NHS Foundation Trust , London , UK.

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https://www.tandfonline.com/doi/full/10.1080/14737159.2018.1
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http://dx.doi.org/10.1080/14737159.2018.1493924DOI Listing
August 2018

The 2017 Malcolm Ferguson-Smith Young Investigator Award.

Prenat Diagn 2018 Jun 27. Epub 2018 Jun 27.

John Wiley and Sons, Oxford, UK.

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http://dx.doi.org/10.1002/pd.5289DOI Listing
June 2018

Advances in the prenatal diagnosis of monogenic disorders.

Authors:
Lyn S Chitty

Prenat Diagn 2018 01;38(1):3-5

Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.

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http://doi.wiley.com/10.1002/pd.5208
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http://dx.doi.org/10.1002/pd.5208DOI Listing
January 2018

Health professionals' and coroners' views on less invasive perinatal and paediatric autopsy: a qualitative study.

Arch Dis Child 2018 06 8;103(6):572-578. Epub 2018 Feb 8.

Genetics and Genomic Medicine, The UCL Great Ormond Street Institute of Child Health, London, UK.

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http://dx.doi.org/10.1136/archdischild-2017-314424DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5965355PMC
June 2018

Current controversies in prenatal diagnosis 2: Cell-free DNA prenatal screening should be used to identify all chromosome abnormalities.

Prenat Diagn 2018 02;38(3):160-165

Department of Obstetrics, Gynecology, and Reproductive Sciences, University of California, San Francisco, San Francisco, CA, USA.

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http://dx.doi.org/10.1002/pd.5216DOI Listing
February 2018

In case you missed it: The Prenatal Diagnosis editors bring you the most significant advances of 2017.

Prenat Diagn 2018 01;38(2):83-90

North East Thames Regional Genetics Service, Great Ormond Street NHS Foundation Trust, London, UK.

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http://dx.doi.org/10.1002/pd.5210DOI Listing
January 2018

Beyond screening for chromosomal abnormalities: Advances in non-invasive diagnosis of single gene disorders and fetal exome sequencing.

Semin Fetal Neonatal Med 2018 04 2;23(2):94-101. Epub 2018 Jan 2.

North East Thames Regional Genetics Laboratory, Great Ormond Street NHS Foundation Trust, London, UK; UCL Great Ormond Street Institute of Child Health, London, UK. Electronic address:

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http://dx.doi.org/10.1016/j.siny.2017.12.002DOI Listing
April 2018

Has noninvasive prenatal testing impacted termination of pregnancy and live birth rates of infants with Down syndrome?

Prenat Diagn 2017 12;37(13):1281-1290

Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, UK.

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http://dx.doi.org/10.1002/pd.5182DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5767768PMC
December 2017

Offering non-invasive prenatal testing as part of routine clinical service. Can high levels of informed choice be maintained?

Prenat Diagn 2017 Nov 17;37(11):1130-1137. Epub 2017 Oct 17.

North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.

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http://dx.doi.org/10.1002/pd.5154DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5969260PMC
November 2017

Non-invasive prenatal testing: use of cell-free fetal DNA in Down syndrome screening.

Br J Gen Pract 2017 07;67(660):298-299

Professor of Genetics and Fetal Medicine, Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health and Great Ormond Street Hospital for Children NHS Foundation Trust, London.

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http://dx.doi.org/10.3399/bjgp17X691625DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5565870PMC
July 2017

Promises, pitfalls and practicalities of prenatal whole exome sequencing.

Prenat Diagn 2018 01 25;38(1):10-19. Epub 2017 Jul 25.

North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.

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http://dx.doi.org/10.1002/pd.5102DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5745303PMC
January 2018

Clinical, social and ethical issues associated with non-invasive prenatal testing for aneuploidy.

J Psychosom Obstet Gynaecol 2018 03 9;39(1):11-18. Epub 2017 Feb 9.

a North East Thames Regional Genetics Service , Great Ormond Street Hospital for Children NHS Foundation Trust , London , UK.

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http://dx.doi.org/10.1080/0167482X.2017.1286643DOI Listing
March 2018

The natural history of prenatally diagnosed congenital cystic lung lesions: long-term follow-up of 119 cases.

Arch Dis Child 2017 09 5;102(9):798-803. Epub 2017 Jun 5.

Department of Paediatric Respiratory Medicine, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.

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http://dx.doi.org/10.1136/archdischild-2016-311233DOI Listing
September 2017

Preferences for prenatal diagnosis of sickle-cell disorder: A discrete choice experiment comparing potential service users and health-care providers.

Health Expect 2017 12 15;20(6):1289-1295. Epub 2017 May 15.

Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health and Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.

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http://dx.doi.org/10.1111/hex.12568DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5689222PMC
December 2017

Recommended practice for laboratory reporting of non-invasive prenatal testing of trisomies 13, 18 and 21: a consensus opinion.

Prenat Diagn 2017 Jul 8;37(7):699-704. Epub 2017 Jun 8.

UCL Great Ormond Street Institute of Child Health and Great Ormond Street NHS Foundation Trust, London, UK.

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http://dx.doi.org/10.1002/pd.5068DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5525582PMC
July 2017

Emerging Considerations for Noninvasive Prenatal Testing.

Clin Chem 2017 05 15;63(5):946-953. Epub 2017 Mar 15.

Department of Pathology and Laboratory Medicine, Women & Infants Hospital/Alpert Medical School at Brown University, Providence, RI.

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http://dx.doi.org/10.1373/clinchem.2016.266544DOI Listing
May 2017

In case you missed it: the Prenatal Diagnosis editors bring you the most significant advances of 2016.

Prenat Diagn 2017 Feb;37(2):117-122

Inova Alexandria Hospital, Alexandria, VA, USA.

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http://dx.doi.org/10.1002/pd.5007DOI Listing
February 2017

The 100 000 Genomes Project: What it means for paediatrics.

Arch Dis Child Educ Pract Ed 2017 Apr 9;102(2):105-107. Epub 2016 Dec 9.

North Thames NHS Genomic Medicine Centre, Great Ormond Street NHS Foundation Trust, London, UK.

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http://dx.doi.org/10.1136/archdischild-2016-311029DOI Listing
April 2017

Time and travel costs incurred by women attending antenatal tests: A costing study.

Midwifery 2016 Sep 21;40:148-52. Epub 2016 Jun 21.

Department of Applied Health Research, University College London, London, UK.

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http://dx.doi.org/10.1016/j.midw.2016.06.013DOI Listing
September 2016

A qualitative study looking at informed choice in the context of non-invasive prenatal testing for aneuploidy.

Prenat Diagn 2016 Sep 23;36(9):875-81. Epub 2016 Aug 23.

North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.

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http://dx.doi.org/10.1002/pd.4879DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5053255PMC
September 2016

The 2015 Malcolm Ferguson-Smith Young Investigator Award.

Prenat Diagn 2016 Jul;36(7):599-600

John Wiley & Sons, Oxford, United Kingdom.

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http://dx.doi.org/10.1002/pd.4855DOI Listing
July 2016

Non-invasive prenatal diagnosis (NIPD) for single gene disorders: cost analysis of NIPD and invasive testing pathways.

Prenat Diagn 2016 Jul 22;36(7):636-42. Epub 2016 May 22.

North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.

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http://dx.doi.org/10.1002/pd.4832DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6680142PMC
July 2016

Women's Experiences and Preferences for Service Delivery of Non-Invasive Prenatal Testing for Aneuploidy in a Public Health Setting: A Mixed Methods Study.

PLoS One 2016 5;11(4):e0153147. Epub 2016 Apr 5.

Genetics and Genomic Medicine, UCL Institute of Child Health and Great Ormond Street Hospital for Children NHS Foundation Trust, London, WC1N 1EH, United Kingdom.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0153147PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4821600PMC
August 2016

Stakeholder attitudes and needs regarding cell-free fetal DNA testing.

Curr Opin Obstet Gynecol 2016 Apr;28(2):125-31

aNorth East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust bGenetics and Genomic Medicine, UCL Institute of Child Health, London, UK.

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http://dx.doi.org/10.1097/GCO.0000000000000251DOI Listing
April 2016

Inositol for the prevention of neural tube defects: a pilot randomised controlled trial.

Br J Nutr 2016 Mar 5;115(6):974-83. Epub 2016 Feb 5.

1Newlife Birth Defects Research Centre,Institute of Child Health,University College London,London WC1N 1EH,UK.

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http://dx.doi.org/10.1017/S0007114515005322DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4825100PMC
March 2016

In case you missed it: the Prenatal Diagnosis editors bring you the most significant advances of 2015.

Prenat Diagn 2016 Jan;36(1):3-9

UCL Institute of Child Health, Great Ormond Street Hospital for Children and NHS Foundation Trust, London, UK.

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http://dx.doi.org/10.1002/pd.4758DOI Listing
January 2016

Limited Clinical Utility of Non-invasive Prenatal Testing for Subchromosomal Abnormalities.

Am J Hum Genet 2016 Jan 17;98(1):34-44. Epub 2015 Dec 17.

North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3BH, UK; UCL Institute of Child Health, University College London, London WC1N 1EH, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.11.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4716686PMC
January 2016

Current controversies in prenatal diagnosis 2: should a fetal exome be used in the assessment of a dysmorphic or malformed fetus?

Prenat Diagn 2016 Jan 22;36(1):15-9. Epub 2015 Nov 22.

Department of Medical Genetics, University of British Columbia, Vancouver, Canada.

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http://dx.doi.org/10.1002/pd.4718DOI Listing
January 2016

Development and validation of a measure of informed choice for women undergoing non-invasive prenatal testing for aneuploidy.

Eur J Hum Genet 2016 06 28;24(6):809-16. Epub 2015 Oct 28.

Genetics and Genomic Medicine, UCL Institute of Child Health and Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.

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http://www.nature.com/articles/ejhg2015207
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http://dx.doi.org/10.1038/ejhg.2015.207DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4867447PMC
June 2016

Next generation sequencing and the next generation: how genomics is revolutionizing reproduction.

Prenat Diagn 2015 Oct 7;35(10):929-30. Epub 2015 Sep 7.

Floating Hospital for Children at Tufts Medical Center, Boston, USA.

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http://dx.doi.org/10.1002/pd.4679DOI Listing
October 2015

Exome sequencing for prenatal diagnosis of fetuses with sonographic abnormalities.

Prenat Diagn 2015 Oct 11;35(10):1010-7. Epub 2015 Sep 11.

North-East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.

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http://dx.doi.org/10.1002/pd.4675DOI Listing
October 2015

Non-invasive prenatal testing for aneuploidy: a systematic review of Internet advertising to potential users by commercial companies and private health providers.

Prenat Diagn 2015 Dec 7;35(12):1167-75. Epub 2015 Sep 7.

Genetics and Genomic Medicine, UCL Institute of Child Health and Great Ormond Street Hospital NHS Foundation Trust, London, United Kingdom.

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http://dx.doi.org/10.1002/pd.4673DOI Listing
December 2015

Noninvasive Prenatal Screening for Genetic Diseases Using Massively Parallel Sequencing of Maternal Plasma DNA.

Cold Spring Harb Perspect Med 2015 Jul 17;5(9):a023085. Epub 2015 Jul 17.

Centre for Research into Circulating Fetal Nucleic Acids, Li Ka Shing Institute of Health Sciences, The Chinese University of Hong Kong, Shatin, NT, Hong Kong SAR, China; Department of Chemical Pathology, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, NT, Hong Kong SAR, China.

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http://dx.doi.org/10.1101/cshperspect.a023085DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4561399PMC
July 2015

The 2014 Malcolm Ferguson-Smith Young Investigator Award.

Prenat Diagn 2015 Jun;35(6):515-6

John Wiley & Sons, Oxford, UK.

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http://dx.doi.org/10.1002/pd.4612DOI Listing
June 2015

Realising the promise of non-invasive prenatal testing.

BMJ 2015 Apr 10;350:h1792. Epub 2015 Apr 10.

PHG Foundation, Cambridge CB1 8RN, UK.

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http://dx.doi.org/10.1136/bmj.h1792DOI Listing
April 2015

Use of cell-free DNA to screen for Down's syndrome.

Authors:
Lyn S Chitty

N Engl J Med 2015 Apr 1;372(17):1666-7. Epub 2015 Apr 1.

From the UCL Institute of Child Health and the Great Ormond Street Hospital for Children NHS Foundation Trust - both in London.

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http://dx.doi.org/10.1056/NEJMe1502441DOI Listing
April 2015

Non-invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next-generation sequencing allows for a safer, more accurate, and comprehensive approach.

Prenat Diagn 2015 Jul 26;35(7):656-62. Epub 2015 May 26.

N-E Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.

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http://dx.doi.org/10.1002/pd.4583DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4657458PMC
July 2015

Non-invasive prenatal diagnosis for cystic fibrosis: detection of paternal mutations, exploration of patient preferences and cost analysis.

Prenat Diagn 2015 Oct 5;35(10):950-8. Epub 2015 Apr 5.

North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.

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http://dx.doi.org/10.1002/pd.4585DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4672687PMC
October 2015

In case you missed it: the Prenatal Diagnosis editors bring you the most significant advances of 2014.

Prenat Diagn 2015 Jan;35(1):29-34

Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1002/pd.4551DOI Listing
January 2015

Spina bifida.

Nat Rev Dis Primers 2015 04 30;1:15007. Epub 2015 Apr 30.

Department of Pediatrics, Stanford University School of Medicine, Stanford, California, USA.

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http://dx.doi.org/10.1038/nrdp.2015.7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4898641PMC
April 2015

Diagnostic accuracy of post mortem MRI for abdominal abnormalities in foetuses and children.

Eur J Radiol 2015 Mar 3;84(3):474-481. Epub 2014 Dec 3.

Department of Histopathology, UCL Institute of Child Health & Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ejrad.2014.11.030DOI Listing
March 2015

Lung aeration on post-mortem magnetic resonance imaging is a useful marker of live birth versus stillbirth.

Int J Legal Med 2015 May 5;129(3):531-6. Epub 2014 Dec 5.

Department of Radiology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK, WC1N 3JH.

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http://dx.doi.org/10.1007/s00414-014-1125-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4412725PMC
May 2015

An easy test but a hard decision: ethical issues concerning non-invasive prenatal testing for autosomal recessive disorders.

Eur J Hum Genet 2015 Aug 5;23(8):1004-9. Epub 2014 Nov 5.

UCL Institute of Child Health, Great Ormond Street and UCLH NHS Foundation Trusts, London, UK.

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http://dx.doi.org/10.1038/ejhg.2014.238DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4795110PMC
August 2015

'Hope for safe prenatal gene tests'. A content analysis of how the UK press media are reporting advances in non-invasive prenatal testing.

Prenat Diagn 2015 May 22;35(5):420-7. Epub 2014 Sep 22.

Clinical and Molecular Genetics, UCL Institute of Child Health and Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.

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http://dx.doi.org/10.1002/pd.4488DOI Listing
May 2015

Postmortem magnetic resonance appearances of congenital high airway obstruction syndrome.

Pediatr Radiol 2015 Apr 5;45(4):556-61. Epub 2014 Sep 5.

Department of Radiology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, WC1N 3JH, UK,

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http://dx.doi.org/10.1007/s00247-014-3133-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4381089PMC
April 2015

Diagnostic accuracy of routine antenatal determination of fetal RHD status across gestation: population based cohort study.

BMJ 2014 Sep 4;349:g5243. Epub 2014 Sep 4.

International Blood Group Reference Laboratory, NHS Blood and Transplant, Bristol BS34 7QH, UK Kirstin Finning.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4154470PMC
http://dx.doi.org/10.1136/bmj.g5243DOI Listing
September 2014

The 2013 Malcolm Ferguson-Smith Young Investigator Award.

Prenat Diagn 2014 Aug;34(8):717-8

Tufts Medical Center, Boston, USA.

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http://dx.doi.org/10.1002/pd.4440DOI Listing
August 2014

Diagnostic accuracy of postmortem MRI for musculoskeletal abnormalities in fetuses and children.

Prenat Diagn 2014 Dec 6;34(13):1254-61. Epub 2014 Aug 6.

Department of Radiology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK; Institute of Child Health, UCL, London, UK.

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http://dx.doi.org/10.1002/pd.4460DOI Listing
December 2014

Evaluation of non-invasive prenatal testing (NIPT) for aneuploidy in an NHS setting: a reliable accurate prenatal non-invasive diagnosis (RAPID) protocol.

BMC Pregnancy Childbirth 2014 Jul 16;14:229. Epub 2014 Jul 16.

North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, Level 5, York House, 37 Queen Square, London WC1N 3BH, UK.

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http://dx.doi.org/10.1186/1471-2393-14-229DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4226037PMC
July 2014

RAPIDR: an analysis package for non-invasive prenatal testing of aneuploidy.

Bioinformatics 2014 Oct 1;30(20):2965-7. Epub 2014 Jul 1.

University College London Genetics Institute, University College London, UK and North East Thames Regional Genetics Service, Great Ormond Street Hospital NHS Foundation Trust, London, UK.

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http://dx.doi.org/10.1093/bioinformatics/btu419DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4184262PMC
October 2014

Non-invasive prenatal diagnosis: progress and potential.

Arch Dis Child Fetal Neonatal Ed 2014 Sep 30;99(5):F426-30. Epub 2014 Apr 30.

North-East Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK Department of Genetics and Genomic Medicine, UCL Institute of Child Health, London, UK.

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http://dx.doi.org/10.1136/archdischild-2013-304828DOI Listing
September 2014

Developing noninvasive diagnosis for single-gene disorders: the role of digital PCR.

Methods Mol Biol 2014 ;1160:215-28

Department of Obstetrics and Gynaecology, Yong Loo Lin School of Medicine, National University of Singapore, NUHS Tower Block, Level 12, 1E Kent Ridge Road, Singapore, 119228, Singapore,

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http://dx.doi.org/10.1007/978-1-4939-0733-5_17DOI Listing
December 2014

Model-based analysis of costs and outcomes of non-invasive prenatal testing for Down's syndrome using cell free fetal DNA in the UK National Health Service.

PLoS One 2014 8;9(4):e93559. Epub 2014 Apr 8.

Clinical and Molecular Genetics Unit, UCL Institute of Child Health and Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom; Fetal Medicine Unit, University College London Hospitals NHS Foundation Trust, London, United Kingdom.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0093559PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3979704PMC
November 2014

A novel homozygous ERCC5 truncating mutation in a family with prenatal arthrogryposis--further evidence of genotype-phenotype correlation.

Am J Med Genet A 2014 Jul 3;164A(7):1777-83. Epub 2014 Apr 3.

NE Thames Regional Genetics Service, Great Ormond Street Hospital for Children, London, United Kingdom.

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http://dx.doi.org/10.1002/ajmg.a.36506DOI Listing
July 2014

Postmortem cardiovascular magnetic resonance imaging in fetuses and children: a masked comparison study with conventional autopsy.

Circulation 2014 May 19;129(19):1937-44. Epub 2014 Mar 19.

Centre for Cardiovascular Imaging, University College London Institute of Cardiovascular Science, London, United Kingdom (A.M.T., S.S., S.T.); Cardiorespiratory Services, Great Ormond Street Hospital for Children (A.M.T.), Department of Histopathology, University College London Institute of Child Health and Great Ormond Street Hospital for Children (N.J.S., M.T.A.), and Department of Histopathology, University College London Hospitals (R.J.S.), National Health Service Foundation Trust, London, United Kingdom; Paediatric Epidemiology and Biostatistics, Institute of Child Health, University College London, London, United Kingdom (A.W.); Clinical Molecular Genetics Unit, University College London Institute of Child Health and University College London Hospitals National Health Service Foundation Trust, London, United Kingdom (L.S.C.); and Academic Neonatology, University College London Institute for Women's Health, London, United Kingdom (N.R., S.T.).

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http://dx.doi.org/10.1161/CIRCULATIONAHA.113.005641DOI Listing
May 2014

Cell-free DNA testing: an aid to prenatal sonographic diagnosis.

Authors:
Lyn S Chitty

Best Pract Res Clin Obstet Gynaecol 2014 Apr 18;28(3):453-66. Epub 2014 Jan 18.

Clinical and Molecular Genetics, UCL Institute of Child Health and Great Ormond Street Hospital for Children NHS Trust, London, UK; Fetal Medicine Unit, University College London Hospitals NHS Foundation Trust, London, UK. Electronic address:

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http://dx.doi.org/10.1016/j.bpobgyn.2014.01.002DOI Listing
April 2014

Will the introduction of non-invasive prenatal testing for Down's syndrome undermine informed choice?

Health Expect 2015 Oct 20;18(5):1658-71. Epub 2014 Feb 20.

UCL Institute of Child Health, London, UK.

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http://dx.doi.org/10.1111/hex.12159DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5060845PMC
October 2015

In case you missed it: the Prenatal Diagnosis section editors bring you the most significant advances of 2013.

Prenat Diagn 2014 Jan;34(1):1-5

Mother Infant Research Institute at Tufts Medical Center, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1002/pd.4288DOI Listing
January 2014