Improving the NHS prenatal diagnostic services

A new qualitative study from RAPID has been published

mhill — Wed, 28 Mar 2012 15:31:20 +0000

A key goal of the RAPID Programme is to consider the views and experiences of service users. Dr Celine Lewis from Genetic AllianceUKhas led a qualitative study exploring the attitudes and opinions of women and partners who have had NIPD for fetal sex determination. The study found that opinions of NIPD were overwhelmingly positive; as well as the practical advantages of earlier testing and avoiding miscarriage, there were a number of psychological advantages such as perceived control, normalisation of pregnancy, peace of mind and facilitating decision making.

A research paper describing this work has been published online in the European Journal of Human Genetics.

Lewis C, Hill M, Skirton H, Chitty LS. Fetal sex determination using cell free fetal DNA: Service users’ experiences of and preferences for service delivery. European Journal of Human Genetics. Available online 28 March 2012

New RAPID Publication

mhill — Thu, 08 Mar 2012 14:17:27 +0000

An editorial which explores the most recent developments in NIPD for aneuploidy has been published online in the American Journal of Obstetrics & Gynecology. The editorial addresses the key questions that need to be considered prior to the implementation of these tests into routine antenatal care. A preliminary economic analysis is included that incorporates the modelling of costs in the UK. In addition, options for care pathways and issues for education and counselling are discussed.

Chitty LS, Hill M, White H, Wright D, Morris S. Non-invasive prenatal testing for aneuploidy – ready for prime time? Am J Obstet Gynecol. Available online 28 February 2012

Update: non-invasive prenatal testing for Down’s syndrome

mhill — Thu, 08 Mar 2012 13:48:43 +0000

A number of new studies looking at validating NIPD for Down’s syndrome and the other most common aneuploidies using massively parallel sequencing have been published.^1-5

NIPD for aneuploidy has now begun to be offered overseas through some commercial providers in the USA, China and Hong Kong. These tests are NOT available in the UK at present.

It is important to note that there is a small false positive rate with these tests which means that they are still considered an “advanced screening test” that should be confirmed by invasive testing.⁶

References

1. Ashoor G, Syngelaki A, Wagner M, et al. Chromosome selective sequencing of maternal plasma cell-free DNA for first-trimester detection of trisomy 21 and trisomy 18. Am J Obstet Gynecol. 2012. Epub ahead of print January 2012

2. Sparks AB, Struble CA, Wang ET, et al. Optimized non-invasive evaluation of fetal aneuploidy risk using cell-free DNA from maternal blood. Am J Obstet Gynecol. 2012. Epub ahead of print January 2012

3. Bianchi DW, Platt LD, Goldberg JD, et al. Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing. Obstet Gynaecol. 2012. Epub ahead of print February 2012

4. Palomaki GE, Kloza EM, Lambert-Messerlian GMH, J.E., et al. DNA Sequencing of Maternal Plasma to Detect Down Syndrome: An International Clinical Validation. Genet Med. 2011; 13: 913-20

5. Palomaki GE, Deciu C, Kloza EM, et al. DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study. Genet Med. 2012. 14:296-305

6. Benn P, Borrell A, Cuckle H, et al. Prenatal Detection of Down Syndrome using Massively Parallel Sequencing (MPS): a rapid response statement from a committee on behalf of the Board of the International Society for Prenatal Diagnosis, 24 October 2011. Prenat Diagn. 2011; 1-2

video holder

jrtt — Thu, 23 Feb 2012 14:29:55 +0000

RAPID and EMQN NIPD survey

jrtt — Mon, 09 Jan 2012 15:22:50 +0000

RAPID have worked with the European Molecular Genetics Quality Network (EMQN) to conduct a survey about which laboratories are offering and would like to be involved in an External Quality Assessment (EQA) Scheme for NIPD for fetal sex determination. The results are displayed in the Powerpoint presentation below.

RAPID EQMN NIPD Survey

Laboratories offering non-invasive fetal sex determination

jrtt — Thu, 17 Nov 2011 10:16:57 +0000

London North East Thames Regional Molecular Genetics Service (Great Ormond Street Hospital, London)
NE Thames Regional Molecular Genetics Laboratory,
Great Ormond Street Hospital NHS Trust
Level 6 York House
37 Queen Square
London
WC1N 3BH
United Kingdom
Telephone: 0207-762-6888
FAX: 0207-813-8196
Email:

North West Regional Molecular Genetics Service (Manchester)
Regional Genetic Service
St Marys Hospital
Hathersage Road
Manchester
M13 0JH
Telephone: 0161-276-6122
Alt. Telephone: 0161-276-6605
Fax: 0161-276-6606
Web: www.mangen.co.uk

The international blood group reference laboratory
International blood group reference laboratory
North Bristol Park
Filton
Bristol
BS34 7QG
Telephone: 0117 921 7500
Fax: 0117 912 5796

West Midlands Regional Genetics Laboratory
West Midlands Regional Genetics Laboratory
Birmingham Women’s NHS Foundation Trust
Metchley Park Road
Edgbaston
Birmingham B15 2TG
Telephone: 0121 627 2710
Fax: 0121 627 2711
email:

NIPD guidance for commissioners

jrtt — Thu, 10 Nov 2011 10:28:00 +0000

The RAPID team have produced the following new guidance for commissioners on the introduction of cell-free fetal DNA for fetal sex determination in serious genetic disorders.

Laboratories that are currently developing non-invasive tests for fetal sex determination

jrtt — Fri, 04 Nov 2011 11:10:07 +0000

Bristol Genetics Laboratory Pathology Sciences Blood Sciences and Bristol Genetics

The status of NIPD testing in the UK

jrtt — Thu, 03 Nov 2011 16:54:12 +0000

Currently in the UK NIPD testing is only available for non-invasive fetal sex determination for clinical indications. These tests are performed when there is a risk of an X-linked disorder or Congenital Adrenal Hyperplasia. Fetal sex can be determined by testing cell free fetal DNA (ffDNA) extracted from maternal plasma for the presence or absence of Y chromosome sequences.

Specific tests for genetic conditions or chromosomal conditions such as Down syndrome are still in development and will not be available in the UK for a number of years.

For clinical information patients should contact their GP.

UKGTN approval of gene dossiers for NIPD for fetal sex determination for clinical indications

jrtt — Tue, 01 Nov 2011 16:02:52 +0000

Fetal sex determination is performed for women at risk of X-linked conditions, such as Duchenne muscular dystrophy (DMD) or those associated with development of ambiguous genitalia, such as congenital adrenal hyperplasia (CAH). Until recently invasive prenatal diagnosis (IPD), usually CVS, which carries a small risk of miscarriage (1%), was required. NIPD for fetal sexing is now increasingly offered as an alternative to IPD in the UK,allowing women to obtain information about fetal gender from 7 weeks gestation, without risk of miscarriage.^1,2

To allow NIPD for these indications to enter mainstream clinical care approval by governance bodies for genetic testing and recognition by commissioners is crucial. To this end, NHS services labs offering NIPD have prepared gene dossiers for fetal sex determination for X-linked conditions (excluding haemophilia) and for CAH for the UK Genetic Testing Network (UKGTN). These dossiers were supported by research from the RAPID programme including the PROOF audit³ and a health economics analysis of fetal sex determination for DMD and CAH.⁴ The gene dossiers have now been approved and will be uploaded, in due course, on to the UKGTN website.

Work to support the use of NIPD in clinical practice is ongoing and RAPID, in collaboration with Genetic Alliance UK, is currently involved in surveying the opinions of families accessing this test and will use this feedback to develop patient information. In addition, the National Genetics Education and Development Centre are developing educational competencies for health professionals who may discuss this test.