Implementing noninvasive prenatal fetal sex determination using cell-free fetal DNA in the United Kingdom

Expert Opinion on Biological Therapy

Volumn 12, Issue SUPPL. 1, 2012, Pages

  Hill, Melissa ^a   Lewis, Celine ^b   Jenkins, Lucy ^a   Allen, Stephanie ^c   Elles, Rob G ^d   Chitty, Lyn S ^a  

^a GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^b GENETIC ALLIANCE UK   (United Kingdom)

^c BIRMINGHAM CHILDREN S HOSPITAL NHS FOUNDATION TRUST   (United Kingdom)

^d MANCHESTER UNIVERSITY NHS FOUNDATION TRUST   (United Kingdom)

Author keywords

Cell free fetal DNA; Fetal sex determination; Implementation; Noninvasive prenatal diagnosis

Indexed keywords

DNA;

CONFERENCE PAPER; ECONOMIC ASPECT; HEMOPHILIA; HUMAN; MEDICAL EDUCATION; NONINVASIVE PRENATAL DIAGNOSIS; PATIENT ATTITUDE; PATIENT INFORMATION; PRACTICE GUIDELINE; PRENATAL DIAGNOSIS; SEX DETERMINATION; SPONTANEOUS ABORTION; UNITED KINGDOM;

CELL-FREE SYSTEM; DNA; FEMALE; GREAT BRITAIN; HUMANS; MALE; PRENATAL DIAGNOSIS; SEX DETERMINATION ANALYSIS;

EID: 84861421570     PISSN: 14712598     EISSN: None     Source Type: Journal    
DOI: 10.1517/14712598.2012.666522     Document Type: Conference Paper

References (35)

1. Efrat Z, Akinfenwa OO, Nicolaides KH. First-trimester determination of fetal gender by ultrasound. Ultrasound Obstet Gynecol 1999; 13: 305-7 (Pubitemid 29312636)
2. Whitlow BJ, Lazanakis MS, Economides DL. The sonographic identification of fetal gender from 11 to 14 weeks of gestation. Ultrasound Obstet Gynecol 1999; 13: 301-4 (Pubitemid 29312635)
3. Mazza V, Contu G, Falcinelli C, et al. Biometrical threshold of biparietal diameter for certain fetal sex assignment by ultrasound. Ultrasound Obstet Gynecol 1999; 13: 308-11 (Pubitemid 29312637)
4. Efrat Z, Perri T, Ramati E, et al. Fetal gender assignment by first-trimester ultrasound. Ultrasound Obstet Gynecol 2006; 27: 619-21 (Pubitemid 43967362)
5. Mujezinovic F, Alfirevic Z. Procedure-related complications of amniocentesis and chorionic villous sampling: a systematic review. Obstet Gynecol 2007; 110: 687-94 (Pubitemid 47359597)
6. Lo YM, Corbetta N, Chamberlain PF, et al. Presence of fetal DNA in maternal plasma and serum. Lancet 1997; 350: 485-7 (Pubitemid 27343304)
7. Hill M, Finning K, Martin P, et al. Non-invasive prenatal determination of fetal sex: translating research into clinical practice. Clin Genet 2011; 80: 68-75
8. Chi C, Hyett JA, Finning KM, et al. Non-invasive first trimester determination of fetal gender: a new approach for prenatal diagnosis of haemophilia. BJOG 2006; 113: 239-42
9. Forest M, Morel Y, David M. Prenatal treatment of congenital adrenal hyperplasia. Trends Endocrinol Metab 1998; 9: 284-9 (Pubitemid 28394976)
10. Lajic S, Wedell A, Bui T, et al. Long-term somatic follow-up of prenatally treated children with congenital adrenal hyperplasia. J Clin Endocrinol Metab 1998; 83: 3872-80 (Pubitemid 28513565)
11. Hyett JA, Gardener G, Stojilkovic-Mikic T, et al. Reduction in diagnostic and therapeutic interventions by non-invasive determination of fetal sex in early pregnancy. Prenat Diagn 2005; 25: 1111-16 (Pubitemid 43016291)
12. Boon EM, Schlecht HB, Martin P, et al. Y chromosome detection by Real Time PCR and pyrophosphorolysis-activated polymerisation using free fetal DNA isolated from maternal plasma. Prenat Diagn 2007; 27: 932-7 (Pubitemid 47597921)
13. Scheffer PG, van der Schoot CE, Page-Christiaens GC, et al. Reliability of fetal sex determination using maternal plasma. Obstet Gynecol 2010; 115: 117-26
14. Clinical Molecular Genetics Society (CMGS). Audit 2009-2010. Available from: http: //wwwcmgsorg/CMGS%20audit/2010%20audit/secure4Final-Audit09-10pdf 2011 [Accessed September 2011]
15. Sanderson S, Zimmern R, Kroese M, et al. How can the evaluation of genetic tests be enhanced? Lessons learned from the ACCE framework and evaluating genetic tests in the United Kingdom. Genet Med 2005; 7: 495-500 (Pubitemid 41445490)
16. Haddow JE, Palomaki GE. ACCE: a model process for evaluating data on emerging genetic tests. In: Khoury M, Little J, Burke W, editors. Human Genome Epidemiology: a Scientific Foundation for Using Genetic Information to Improve Health and Prevent Disease. Oxford University Press; New York: 2003. p. 217-33
17. UK Genetic Testing Network. Supporting genetic testing in the NHS. Second report of the UKGTN. November 2010. Available from: http: //www.ukgtn.nhs.uk/ gtn/digitalAssets/0/929SECOND REPORT.pdf [Accessed January 2012]
18. RAPID. Available from: www.rapid.nhs.uk [Accessed December 2011]
19. Devaney SA, Palomaki GE, Scott JA, et al. Noninvasive fetal sex determination using cell-free fetal DNA: a systematic review and meta-analysis. JAMA 2011; 306: 627-36
20. Picchiassi E, Coata G, Fanetti A, et al. The best approach for early prediction of fetal gender by using free fetal DNA from maternal plasma. Prenat Diagn 2008; 28: 525-30 (Pubitemid 351946955)
21. Barrett AN, Zimmermann BG, Wang D, et al. Implementing prenatal diagnosis based on cell-free fetal DNA: accurate identification of factors affecting fetal DNA yield. PLoS One 2011; 6: e25202
22. Chan KC, Ding C, Gerovassili A, et al. Hypermethylated RASSF1A in maternal plasma: a universal fetal DNA marker that improves the reliability of noninvasive prenatal diagnosis. Clin Chem 2006; 52: 2211-18 (Pubitemid 44924994)
23. White H, Dent C, Hall V, et al. Facilitating implementation of non-invasive prenatal diagnosis: development of a modified real-time PCR protocol to use RASSF1A as a universal fetal DNA marker. Prenat Diagn 2010; 30: S40
24. Jahaver P, Kaariainen H, Kristoffersson U, et al. EuroGentest: DNA-based testing for heritable disorders in Europe. Community Genet 2008; 11: 75-120
25. Hill M, Taffinder S, Chitty LS, et al. Incremental cost of non-invasive prenatal diagnosis versus invasive prenatal diagnosis of fetal sex in England. Prenat Diagn 2011; 31: 267-73
26. Kooij L, Tymstra T, Berg P, et al. The attitude of women toward current and future possibilities of diagnostic testing in maternal blood using fetal DNA. Prenat Diagn 2009; 29: 164-8
27. Lewis C, Hill M, Skirton H, et al. Non-invasive prenatal diagnosis for fetal sexing - what is the value for service users? Eur J Hum Genet 2012; In press
28. Lewis C, Hill M, Skirton H, et al. Fetal sex determination using free fetal DNA: service users' experiences and preferences for how the service should be offered in clinical practice. Prenat Diagn (In Press)
29. Hill M, Compton C, Lewis C, et al. Determination of foetal sex in pregnancies at risk of haemophilia: a qualitative study exploring the clinical practices and attitudes of health professionals in the United Kingdom. Haemophilia 2011; [Epub ahead of Print]
30. RAPID and EMQN NIPD survey. Available from: http: //www.rapid.nhs.uk/ rapid-and-emqn-nipd-survey [Accessed January 2012]
31. Donnai D, Elles R. Integrated regional genetic services: current and future provision. BMJ 2001; 322: 1048-52
32. UK Genetic Testing Network. The UK Genetic Testing Network. Available from: http: //www.ukgtn.nhs.uk/gtn/Information/The+UKGTN
33. UK Genetic Testing Network. Directory of Molecular Genetic Testing. Available from: http: //www.ukgtn.nhs.uk/gtn/Information/Services/ Genetic+Testing+Directory
34. Kroese M, Zimmern R, Farndon P, et al. How can genetic tests be evaluated for clinical use? experience of the UK Genetic testing network. Eur J Hum Genet 2007; 15: 917-21 (Pubitemid 47308466)
35. UK Genetic Testing Network. Testing criteria for molecular genetic tests. Available from: http: //www.ukgtn.nhs.uk/gtn/Information/Services/Testing- Criteria