Non-invasive Pre-natal Testing

• Research type

  Research Study

• Full title

  Developing new technologies for non-invasive trisomy 21 detection

• IRAS ID

  134710

• Contact name

  Soma Mukherjee

• Sponsor organisation

  UHCW NHS Trust

• Research summary

  Down’s syndrome is caused by an extra copy of chromosome 21 (trisomy 21) which occurs 1 of 800 live births *. All individuals with trisomy 21 have some degree of intellectual disability, and some will also have defects of the heart or other organs that may require surgery or medical treatment. So far, diagnosis of fetal Down’s syndrome requires fetal genetic material to be obtained by invasive procedures pose a direct risk to the fetus including miscarriage, infection and preterm delivery.
  Therefore, the main goal of the project is to develop highly throughput, specific and sensitive method of non-invasive trisomy 21 detection from maternal plasma.
  Investigation plan:
  The first step of investigation will be literature review of newly developed methods and comparative study. Methods for cell free fetal DNA extraction (cffDNA) from maternal blood and analysis using different approaches will be developed as the second step. This investigation will be followed by the validation of the methodology in a retrospective group of 300 pregnant women and prospective study in a cohort of 200 pregnancies to confirm methodology suitability.
  Data obtained in the project will increase the knowledge and experience in non-invasive prenatal testing (NIPT) which is new screening strategy developed rapidly in last few years. Minimising the risk of miscarriages of potentially healthy fetues in a group of women investigated by amniocentesis and chorionic villus sampling is a long term goal in obstetric care. NIPT as a safe test will profit patient and health care by decreasing of diagnostic invasive procedures in the future.
  * Alfirevic Z, Sundberg K, Brigham S. Amniocentesis and chorionic villus sampling for prenatal diagnosis.Cochrane. Database Syst Rev. 2003;(3):CD003252.

• REC name

  West Midlands - Solihull Research Ethics Committee

• REC reference

  13/WM/0476

• Date of REC Opinion

  25 Feb 2014

• REC opinion

  Further Information Favourable Opinion