Improving the NHS prenatal diagnostic services http://www.rapid.nhs.uk A research program to develop, evaluate and implement new non-invasive prenatal testing. Tue, 21 Feb 2012 16:16:35 +0000 en hourly 1 http://wordpress.org/?v=3.2.1 RAPID and EMQN NIPD survey http://www.rapid.nhs.uk/rapid-and-emqn-nipd-survey http://www.rapid.nhs.uk/rapid-and-emqn-nipd-survey#comments Mon, 09 Jan 2012 15:22:50 +0000 jrtt http://www.rapid.nhs.uk/?p=203 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

]]> http://www.rapid.nhs.uk/rapid-and-emqn-nipd-survey/feed 0 General http://www.rapid.nhs.uk/general http://www.rapid.nhs.uk/general#comments Thu, 17 Nov 2011 15:34:16 +0000 jrtt http://www.rapid.nhs.uk/?p=175
  • Alberry M, Maddocks D, Jones M, Abdel Hadi M, Abdel-Fattah S, Avent N, Soothill PW. Free fetal DNA in maternal plasma in anembryonic pregnancies: confirmation that the origin is the trophoblast. Prenat Diagn. 2007. 27(5):415-8. http://www.ncbi.nlm.nih.gov/pubmed/17286310
  • Chan KC, Ding C, Gerovassili A, Yeung SW, Chiu RW, Leung TN, Lau TK, Chim SS, Chung GT, Nicolaides KH, Lo YM. Hypermethylated RASSF1A in maternal plasma: A universal fetal DNA marker that improves the reliability of noninvasive prenatal diagnosis. Clin Chem. 2006. 52(12):2211-8. http://www.ncbi.nlm.nih.gov/pubmed/17068167
  • Chim SS, Tong YK, Chiu RW, Lau TK, Leung TN, Chan LY, Oudejans CB, Ding C, Lo YM. Detection of the placental epigenetic signature of the maspin gene in maternal plasma. Proc Natl Acad Sci U S A. 2005. 102(41):14753-8. http://www.ncbi.nlm.nih.gov/pubmed/17068167
  • Chim SS, Shing KF, Hung CW, Leung T-Y, Lau TK, Chiu WK, Lo YM. Detection and characterization of placental microRNAs in maternal plasma. Clin Chem. 2008. 54:482-490. http://www.ncbi.nlm.nih.gov/pubmed/18218722/li>
  • Chu T, Burke B, Bunce K, Surti U, Allen Hogge W, Peters DG. A microarray-based approach for the identification of epigenetic biomarkers for the noninvasive diagnosis of fetal disease. Prenat Diagn. 2009. 29(11):1020-30. http://www.ncbi.nlm.nih.gov/pubmed/19650061
  • Chu T, Bunce K, Hogge WA, Peters DG. Statistical considerations for digital approaches to non-invasive fetal genotyping. Bioinformatics. 2010 Nov 15;26(22):2863-6. Epub 2010 Sep 23. http://www.ncbi.nlm.nih.gov/sites/pubmed/20870643.
  • Dhallan R, Wei-Chun A, Mattagajasingh S, Emche S, Bayliss P, Damewood M, Cronin M, Chou V, Mohr M. Methods to increase the percentage of free fetal DNA recovered from the maternal circulation. JAMA 2004. 291:1114-1119. http://www.ncbi.nlm.nih.gov/pubmed/14996781
  • Fan HC, Blumenfeld YJ, Chitkara U, Hudgins L, Quake S. Analysis of the Size Distributions of Fetal and Maternal Cell-Free DNA by Paired-End Sequencing. Clin Chem 2010 Aug;56(8):1279-86. http://www.ncbi.nlm.nih.gov/sites/pubmed/20558635
  • Gruchy N, Decamp M, Richard N, Jeanne-Pasquier C, Benoist G, Mittre H, Leporrier N. Array CGH analysis in high-risk pregnancies: comparing DNA from cultured cells and cell-free fetal DNA. Prenat Diagn. 2011 Oct 24. doi: 10.1002/pd.2861. [Epub ahead of print] http://www.ncbi.nlm.nih.gov/pubmed/22025315
  • Hahn T, Drese KS, O’Sullivan CK. Microsystem for Isolation of Fetal DNA from Maternal Plasma by Preparative Size Separation. Clin Chem. 2009. 55(12):2144-52. http://www.ncbi.nlm.nih.gov/pubmed/19797718
  • Hahn S, Rusterholz C, Hosli I, Lapaire O. Cell-free nucleic acids as potential markers for preeclampsia. Placenta. 2011 Feb. 32 Suppl:S17-20.
    http://www.ncbi.nlm.nih.gov/pubmed/21257079.
  • Hindson BJ et al. High-throughput droplet digital PCR system for absolute quantitation of DNA copy number. Anal Chem. 2011 Nov 15;83(22):8604-10. Epub 2011 Oct 28. http://www.ncbi.nlm.nih.gov/pubmed/22035192
  • Huang Z, Fong CY, Gauthaman K, Sukumar P, Choolani M, Bongso A. Novel approaches to manipulating foetal cells in the maternal circulation for non-invasive prenatal diagnosis of the unborn child. J Cell Biochem. 2011
    Jun;112(6):1475-85. http://www.ncbi.nlm.nih.gov/pubmed/21503953
  • Jorgez CJ, Bischoff FZ. Improving enrichment of circulating fetal DNA for genetic testing: size fractionation followed by whole gene amplification. Fetal Diagn Ther. 2009. 25(3):314-9. http://www.ncbi.nlm.nih.gov/pubmed/19797718

  • Lazar L, Rigó J Jr, Nagy B, Balogh K, Makó V, Cervenak L, Mézes M, Prohászka Z, Molvarec A. Relationship of circulating cell-free DNA levels to cell-free fetal DNA levels, clinical characteristics and laboratory parameters in preeclampsia. BMC Med Genet. 2009. 10:120-126. http://www.ncbi.nlm.nih.gov/pubmed/19930583

  • Liao GJ, Lun FM, Zheng YW, Chan KC, Leung TY, Lau TK, Chiu RW, Lo YM. Targeted
    Massively Parallel Sequencing of Maternal Plasma DNA Permits Efficient and Unbiased Detection of Fetal Alleles. Clin Chem. 2011 Jan;57(1):92-101. http://www.ncbi.nlm.nih.gov/sites/pubmed/21078840.
  • Lo YM, Corbetta N, Chamberlain PF, et al. Presence of fetal DNA in maternal plasma and serum. Lancet 1997. 350:485e7. http://www.ncbi.nlm.nih.gov/pubmed/9274585
  • Lo YM, Tein MS, Lau TK, Haines CJ, Leung TN, Poon PM, Wainscoat JS, Johnson PJ, Chang AM, Hjelm NM. Quantitative analysis of fetal DNA in maternal plasma and serum: implications for non-invasive prenatal diagnosis. Am J Hum Genet 1998. 62:768-775. http://www.ncbi.nlm.nih.gov/pubmed/9529358
  • Lo YM, Zhang J, Leung TN, Lau TK, Chang AM and Hjelm NM. Rapid clearance of fetal DNA from maternal plasma. Am J Hum Genet 64,218–224. http://www.ncbi.nlm.nih.gov/pubmed/9915961
  • Lo YM. The Quest for Accurate Measurement of Fetal DNA in Maternal Plasma. Clin Chem. 201157(3):522-3 http://www.ncbi.nlm.nih.gov/sites/pubmed/20837785.
  • Lo DYM, Chan KCA, Sun H, Chen EZ, Jiang P, Lun FMF, Zheng YW, Leung TY, Lau TK, Cantor CR, Chiu RWK. Maternal plasma DNA sequencing reveals the genome-wide genetics and mutational profile of the fetus. Prenatal Diagnosis. 2010 Dec 8.
    http://www.ncbi.nlm.nih.gov/pubmed/21148127.
  • Tang DL, Li Y, Zhou X, Li X, Zheng F. Multiplex fluorescent PCR for noninvasive prenatal detection of fetal-derived paternally inherited diseases using circulatory fetal DNA in maternal plasma. Eur J Obstet Gynecol Reprod Biol. 2009. 144(1):35-9. http://www.ncbi.nlm.nih.gov/pubmed/19285775
  • Tsui DW, Chiu RW, Lo YD. Epigenetic approaches for the detection of fetal DNA in maternal plasma. Chimerism. 2010 Jul;1(1):30-35. http://www.ncbi.nlm.nih.gov/pubmed/21327153
  • Zhao F, Wang J, Liu R, Yang J, Cui K, Wu Y, Guo J, Mu Y, Wang X. Quantification and application of the placental epigenetic signature of the RASSF1A gene in maternal plasma. Prenat Diagn. 2010 30(8):778-82. http://www.ncbi.nlm.nih.gov/sites/pubmed/20661892.
    • ]]>     http://www.rapid.nhs.uk/general/feed 0     Laboratories offering non-invasive fetal sex determination http://www.rapid.nhs.uk/laboratories-offering-non-invasive-fetal-sex-determination http://www.rapid.nhs.uk/laboratories-offering-non-invasive-fetal-sex-determination#comments Thu, 17 Nov 2011 10:16:57 +0000 jrtt http://www.jentennant.co.uk/?p=107 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:

    ]]>     http://www.rapid.nhs.uk/laboratories-offering-non-invasive-fetal-sex-determination/feed 0     NIPD guidance for commissioners http://www.rapid.nhs.uk/nipd-guidance-for-comissioners http://www.rapid.nhs.uk/nipd-guidance-for-comissioners#comments Thu, 10 Nov 2011 10:28:00 +0000 jrtt http://www.jentennant.co.uk/?p=140 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.

    ]]>     http://www.rapid.nhs.uk/nipd-guidance-for-comissioners/feed 0     Laboratories that are currently developing non-invasive tests for fetal sex determination http://www.rapid.nhs.uk/laboratories-that-are-currently-developing-non-invasive-tests-for-fetal-sex-determination http://www.rapid.nhs.uk/laboratories-that-are-currently-developing-non-invasive-tests-for-fetal-sex-determination#comments Fri, 04 Nov 2011 11:10:07 +0000 jrtt http://www.jentennant.co.uk/?p=117 Bristol Genetics Laboratory
    Pathology Sciences
    Blood Sciences and Bristol Genetics
    Southmead Hospital
    Westbury-on Trym
    Bristol
    BS10 5NB
    Telephone: 0117 323 5570 or 0117 323 5571
    Fax: 0117 323 5572

    ]]>     http://www.rapid.nhs.uk/laboratories-that-are-currently-developing-non-invasive-tests-for-fetal-sex-determination/feed 0     The status of NIPD testing in the UK http://www.rapid.nhs.uk/the-status-of-nipd-testing-in-the-uk http://www.rapid.nhs.uk/the-status-of-nipd-testing-in-the-uk#comments Thu, 03 Nov 2011 16:54:12 +0000 jrtt http://www.jentennant.co.uk/?p=102 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.

    ]]>     http://www.rapid.nhs.uk/the-status-of-nipd-testing-in-the-uk/feed 0     Ethical and counselling issues http://www.rapid.nhs.uk/ethical-and-counselling-issues http://www.rapid.nhs.uk/ethical-and-counselling-issues#comments Thu, 03 Nov 2011 15:07:07 +0000 jrtt http://www.jentennant.co.uk/?p=90
  • Benn PA, Chapman AR. Practical and ethical considerations of noninvasive prenatal diagnosis. JAMA. 2009.301 (20) 2154-6. http://www.ncbi.nlm.nih.gov/pubmed/19470991
  • Deans Z, Newson A. Should non-invasiveness change informed consent procedures for prenatal diagnosis? Health Care Analysis 2011 Jun;19(2):122-32. http://www.ncbi.nlm.nih.gov/sites/pubmed/20217481
  • de Jong A, Dondorp WJ, de Die-Smulders CEM, Frints SGM, de Wert GMWR. Non-invasive prenatal testing: ethical issues explored. Eur J Hum Genet 2010 Mar;18(3):272-7 http://www.ncbi.nlm.nih.gov/sites/pubmed/19953123
  • de Jong A, Dondorp WJ, Frints SG, de Die-Smulders CE, de Wert GM. Advances in prenatal screening: the ethical dimension. Nat Rev Genet 2011;12: 657-63.
    http://www.ncbi.nlm.nih.gov/pubmed/21850045
  • de Jong A, Dondorp WJ, Frints SG, de Die-Smulders CE, de Wert GM. Non-invasive prenatal diagnosis for aneuploidy: toward an integral ethical assessment. Hum Reprod 2011; 26 (11): 2915-7
    http://www.ncbi.nlm.nih.gov/pubmed/21840907
  • Kent A. Non-invasive prenatal diagnosis: public and patient perceptions. Semin Fetal Neonatal Med. 2008. 13:109-12. PubMed Citation
  • Kooij L, Tymstra T, van den Berg P. The attitude of women toward current and future possibilities of diagnostic testing in maternal blood using fetal DNA. 2009. 29:164-168. PubMed Citation
  • Newson AJ. Ethical aspects arising from non-invasive fetal diagnosis. Semin Fetal Neonatal Med. 2008. 13(2):103-108. PubMed Citation
  • Sayres LC, Allyse M, Norton ME, Cho MK. Cell-free fetal DNA testing: a pilot study of obstetric healthcare provider attitudes toward clinical implementation. Prenat Diagn 2011 31(11):1070-6
    http://www.ncbi.nlm.nih.gov/pubmed/21793012
  • Schmitz D, Henn W, Netzer C. ‘Commentary: No risk, no objections? Ethical pitfalls of cell-free fetal DNA and RNA testing’ BMJ 2009; 339; b2690 19581325 http://www.ncbi.nlm.nih.gov/sites/pubmed/19581325
  • Van den Heuvel A, Chitty L, Dormandy E, Newson A, Attwood S, Ma R, Masturzo B, Pajkrt E, Marteau TM. Is informed choice in prenatal testing universally valued? A population-based survey in Europe and Asia. BJOG 2009. 116:880-885. http://www.ncbi.nlm.nih.gov/pubmed/19522793
  • Van den Heuvel A, Chitty L, Dormandy E, Newson A, Deans Z, Attwood S, Haynes S, Marteau TM. 2009. Will the introduction of non-invasive prenatal diagnostic testing erode informed choices? An experimental study of health care professionals. Patient Education and Counselling. 2010. 78(1):24-8. http://www.ncbi.nlm.nih.gov/pubmed/19560305
  • Tischler R, Hudgins L, Blumenfeld YJ, Greely HT, Ormond KE. Noninvasive prenatal diagnosis: pregnant women’s interest and expected uptake. Prenat Diagn. 2011 Oct 26. doi: 10.1002/pd.2888. [Epub ahead of print]
    • ]]>     http://www.rapid.nhs.uk/ethical-and-counselling-issues/feed 0     NIPD for fetal blood types http://www.rapid.nhs.uk/nipd-for-fetal-blood-types http://www.rapid.nhs.uk/nipd-for-fetal-blood-types#comments Thu, 03 Nov 2011 15:05:01 +0000 jrtt http://www.jentennant.co.uk/?p=88
  • Bombard AT, Akolekar R, Farkas DH, VanAgtmael AL, Aquino F, Oeth P, Nicolaides KH. Fetal RHD genotype detection from circulating cell-free fetal DNA in maternal plasma in non-sensitized RhD negative women. Prenat Diagn. 2011 Aug;31(8):802-8. http://www.ncbi.nlm.nih.gov/pubmed/21626507
  • Finning KM, Martin PG, Soothill PW, Avent ND. Prediction of fetal D status from maternal plasma: introduction of a new noninvasive fetal RHD genotyping service. Transfusion. 2002. 42(8):1079-85. http://www.ncbi.nlm.nih.gov/pubmed/12385421
  • Finning K, Martin P, Summers J, Daniels G. 2007. Fetal genotyping for the K (Kell) and Rh C, c, and E blood groups on cell-free fetal DNA in maternal plasma. Transfusion. 2007. 47: 2126-33. http://www.ncbi.nlm.nih.gov/pubmed/17958542
  • Finning K, Martin P, Summers J, Massey E, Poole G, Daniels G. Effect of high throughput RHD typing of fetal DNA in maternal plasma on use of anti-RhD immunoglobulin in RhD negative pregnant women: prospective feasibility study. BMJ. 2008. 336(7648):816-8. http://www.ncbi.nlm.nih.gov/pubmed/18390496
  • Grootkerk-Tax MG, Soussan AA, de Haas M, Maaskant-van Wijk PA, van der Schoot CE. Evaluation of prenatal RHD typing strategies on cell-free fetal DNA from maternal plasma. Transfusion. 2006. 46(12):2142-8. http://www.ncbi.nlm.nih.gov/pubmed/17176327
  • Scheffer PG, de Haas M, van der Schoot CE. The controversy about controls for fetal blood group genotyping by cell-free fetal DNA in maternal plasma. Curr Opin Hematol. 2011 Nov;18(6):467-73.http://www.ncbi.nlm.nih.gov/pubmed/21926618
  • Szczepura A, Osipenko L, Freeman K. A new fetal RHD genotyping test: costs and benefits of mass testing to target antenatal anti-D prophylaxis in England and Wales. BMC Pregnancy Childbirth. 2011 Jan 18. http://www.ncbi.nlm.nih.gov/pubmed/21244652.
    • ]]>     http://www.rapid.nhs.uk/nipd-for-fetal-blood-types/feed 0     NIPD for aneuploidy http://www.rapid.nhs.uk/nipd-for-aneuploidy http://www.rapid.nhs.uk/nipd-for-aneuploidy#comments Thu, 03 Nov 2011 14:57:57 +0000 jrtt http://www.jentennant.co.uk/?p=81
  • Chen EZ, Chiu RW, Sun H, Akolekar R, Chan KC, Leung TY, Jiang P, Zheng YW, Lun FM, Chan LY, Jin Y, Go AT, Lau ET, To WW, Leung WC, Tang RY, Au-Yeung SK, Lam H, Kung YY, Zhang X, van Vugt JM, Minekawa R, Tang MH, Wang J, Oudejans CB, Lau TK, Nicolaides KH, Lo YM. Noninvasive prenatal diagnosis of fetal trisomy 18 and trisomy 13 by maternal plasma DNA sequencing. PLoS One. 2011;6(7):e21791. Epub 2011 Jul 6. http://www.ncbi.nlm.nih.gov/pubmed/21755002
  • Chim SS, Jin S, Lee TY, Lun FM, Lee WS, Chan LY, Jin Y, Yang N, Tong YK, Leung TY, Lau TK, Ding C, Chiu RW, Lo YM. Systematic search for placental DNA-methylation markers on chromosome 21: toward a maternal plasma-based epigenetic test for fetal trisomy 21 Clin Chem. 2008. 54(3):500-11. http://www.ncbi.nlm.nih.gov/pubmed/18202156/li>
  • Chiu RW, Chan KC, Gao Y, Lau VY, Zheng W, Leung TY, Foo CH, Xie B, Tsui NB, Lun FM, Zee BC, Lau TK, Cantor CR, Lo YM. Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma. Proc Natl Acad Sci U S A. 2008. 105(51):20458-63. http://www.ncbi.nlm.nih.gov/pubmed/19073917
  • Chiu RWK, Akolekar R, Zheng YWL, Leung TY, Sun H, Chan KCA, Lun FMF, Go ATJI, Lau ET, To WWK, Leung WC, Tang RYK, Au-Yeung SKC, Lam H, Kung YY, Zhang X, van Vugt JMG, Minekawa R, Tang MHY, Wang J, Oudejans CBM, Lau TK, Nicolaides KH, Lo YMD. Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study. BMJ. 2011 Jan 2011.
    http://www.ncbi.nlm.nih.gov/pubmed/21224326.
  • Deng YH, Yin AH, He Q, Chen JC, He YS, Wang HQ, Li M, Chen HY. Non-invasive prenatal diagnosis of trisomy 21 by reverse transcriptase multiplex
    ligation-dependent probe amplification. Clin Chem Lab Med. 2011 Apr;49(4):641-6. http://www.ncbi.nlm.nih.gov/pubmed/21303301
  • Ehrich M, Deciu C, Zwiefelhofer T, Tynan JA, Cagasan L, Tim R, Lu V, McCullough R, McCarthy E, Nygren AO, Dean J, Tang L, Hutchison D, Lu T, Wang H, Angkachatchai V, Oeth P, Cantor CR, Bombard A, van den Boom D. Noninvasive detection of fetal trisomy 21 by sequencing of DNA in maternal blood: a study in a clinical setting. Am J Obstet Gynecol. 2011 204(3):205.e1-11. http://www.ncbi.nlm.nih.gov/pubmed/21310373.
  • Fan HC, Blemenfeld YJ, Chitkara U, Hudgins L, Quake SR. Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood. Proc Natl Acad Sci U S A. 2008.105(42):16266-71. PubMed Citation http://www.ncbi.nlm.nih.gov/pubmed/18838674
  • Fan HC, Blumenfeld YJ, El-Sayed YY, Church J, Quake SR. Microfluidic digital PCR enables rapid prenatal diagnosis of fetal aneuploidy. Am J Obstet Gynecol. 2009. 200:543.e1-543.e7. http://www.ncbi.nlm.nih.gov/pubmed/19375573
  • Fan HC, Quake S. Sensitivity of noninvasive prenatal detection of fetal aneuploidy from maternal plasma using shotgun sequencing is limited only by counting statistics. PLoS One. 2010 May 3;5(5):e10439. http://www.ncbi.nlm.nih.gov/sites/pubmed/20454671
  • Lo YM, Lun FM, Chan KC, Tsui NB, Chong KC, Lau TK, Leung TY, Zee BC, Cantor CR, Chiu RW. Digital PCR for the molecular detection of fetal chromosomal aneuploidy. Proc. Natl. Acad. Sci. U S A. 2007. 104(32):13116-21. http://www.ncbi.nlm.nih.gov/pubmed/17664418
  • Lo YM, Tsui NB, Chui RW, Lau TK, Leung TN, Heung MM, Gerovassili A, Jin Y, Nicolaides KH, Cantor CR, Ding C. Plasma placental RNA allelic ratio permits non-invasive prenatal chromosomal aneuploidy detection. Nature Medicine 2007. 13:218-223. http://www.ncbi.nlm.nih.gov/pubmed/17206148
  • Papageorgiou EA, Fiegler H, Rakyan V, Beck S, Hulten M, Lamnissou K, Carter NP, Patsalis PC. Sites of differential DNA methylation between placenta and peripheral blood: molecular markers for noninvasive prenatal diagnosis of aneuploidies. Am J Pathol. 2009. 174(5):1609-18. http://www.ncbi.nlm.nih.gov/pubmed/19349366
  • Palomaki GE Kloza EM, Lambert-Messerlian GM, Haddow JE, Neveux LM, Ehrich M, van den Boom D, Bombard AT, Deciu C, Grody WW, Nelson SF, Canick JA. DNA sequencing of maternal plasma to detect Down syndrome: An International Clinical Validation. Genet Med 2011; October 17. [Epub ahead of print]
    http://www.ncbi.nlm.nih.gov/pubmed/22005709
  • Sehnert AJ, Rhees B, Comstock D, de Feo E, Heilek G, Burke J, Rava RP. Optimal Detection of Fetal Chromosomal Abnormalities by Massively Parallel DNA Sequencing of Cell-Free Fetal DNA from Maternal Blood. Clin Chem. 2011 57(7):1042-9. http://www.ncbi.nlm.nih.gov/pubmed/21519036.
  • Tong YK, Jin S, Chiu RW, Ding C, Chan KC, Leung TY, Yu L, Lau TK, Lo YM. Noninvasive prenatal detection of trisomy 21 by an epigenetic-genetic chromosome-dosage approach. Clin Chem 2009. 56:1-9. http://www.ncbi.nlm.nih.gov/pubmed/19850629/li>

  • Tsui BY, Wong BCK, Leung TY, Lau TK, Chiu RWK, Lo YM. Non-invasive prenatal detection of fetal trisomy 18 by RNA-SNP allelic ratio analysis using maternal plasma SERPINB2 mRNA: a feasibility study. Prenatal Diagnosis 2009. 29:1031-1037. http://www.ncbi.nlm.nih.gov/pubmed/19650060
    • ]]>     http://www.rapid.nhs.uk/nipd-for-aneuploidy/feed 0     NIPD for single gene disorders http://www.rapid.nhs.uk/nipd-for-single-gene-disorders http://www.rapid.nhs.uk/nipd-for-single-gene-disorders#comments Thu, 03 Nov 2011 14:55:52 +0000 jrtt http://www.jentennant.co.uk/?p=78
  • Lo YM, Chiu RW. Noninvasive approaches to prenatal diagnosis of hemoglobinopathies using fetal DNA in maternal plasma. Hematol Oncol Clin North Am. 2010 Dec;24(6):1179-86.
    http://www.ncbi.nlm.nih.gov/pubmed/21075287
  • Yan TZ, Mo QH, Cai R, Chen X, Zhang CM, Liu YH, Chen YJ, Zhou WJ, Xiong F, Xu XM. Reliable detection of paternal SNPs within deletion breakpoints for non-invasive prenatal exclusion of homozygous α-thalassemia in maternal plasma. PLoS One. 2011;6(9):e24779. Epub 2011 Sep 29.
    http://www.ncbi.nlm.nih.gov/pubmed/21980356
    • ]]>     http://www.rapid.nhs.uk/nipd-for-single-gene-disorders/feed 0