Fetal exome sequencing for isolated increased nuchal translucency: should we be doing it?,BJOG: An International Journal of Obstetrics & Gynaecology

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Fetal exome sequencing for isolated increased nuchal translucency: should we be doing it?
BJOG: An International Journal of Obstetrics & Gynaecology ( IF 5.8 ) Pub Date : 2021-08-19 , DOI: 10.1111/1471-0528.16869
R Mellis _{1,

2} , R Y Eberhardt ₃ , S J Hamilton ₄ , , D J McMullan ₄ , M D Kilby _{5,

6} , E R Maher _{7,

8} , M E Hurles ₃ , J L Giordano ₉ , V Aggarwal ₁₀ , D B Goldstein ₁₁ , R J Wapner ₉ , L S Chitty _{1,

2}

Affiliation

Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, UK.
NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children, NHS Foundation Trust, London, UK.
Wellcome Sanger Institute, Hinxton, UK.
NHS Central and South Genomic Laboratory Hub, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.
Fetal Medicine Centre, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.
Institute of Metabolism and Systems Research, College of Medical Sciences, University of Birmingham, Birmingham, UK.
Department of Medical Genetics, University of Cambridge, Cambridge, UK.
Department of Clinical Genetics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.
Department of OBGYN, Columbia University Irving Medical Center, New York, NY, USA.
Department of Pathology and Cell Biology, Vagelos College of Physicians and Surgeons, New York, NY, USA.
Institute for Genomic Medicine, Vagelos College of Physicians and Surgeons, New York, NY, USA.

To evaluate the utility of prenatal exome sequencing (ES) for isolated increased nuchal translucency (NT) and to investigate factors that increase diagnostic yield.

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