The controversy about controls for fetal blood group genotyping by cell-free fetal DNA in maternal plasma

Current Opinion in Hematology

Volumn 18, Issue 6, 2011, Pages 467-473

  Scheffer, Peter G ^a,b   De Haas, Masja ^a,c   Van Der Schoot, C Ellen ^a  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

^b UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^c Sanquin Diagnostiek   (Netherlands)

Author keywords

cell free DNA; controls; maternal plasma; noninvasive prenatal diagnosis

Indexed keywords

DNA; FETAL DNA; RAS ASSOCIATION DOMAIN FAMILY PROTEIN 1A; UNCLASSIFIED DRUG;

ALLOIMMUNITY; BLOOD GROUP TYPING; CELL FREE SYSTEM; DNA DETERMINATION; DNA EXTRACTION; DNA SCREENING; FALSE NEGATIVE RESULT; FETUS BLOOD; GENETIC POLYMORPHISM; GENOTYPE; HUMAN; MATERNAL PLASMA; NON INVASIVE PROCEDURE; POLYMERASE CHAIN REACTION; PREGNANCY; PRENATAL SCREENING; PRIORITY JOURNAL; REVIEW; SHORT TANDEM REPEAT;

BLOOD GROUP ANTIGENS; BLOOD GROUPING AND CROSSMATCHING; DNA; FALSE NEGATIVE REACTIONS; FEMALE; FETUS; GENOTYPE; HUMANS; PREGNANCY; PRENATAL DIAGNOSIS;

EID: 80054755065     PISSN: 10656251     EISSN: 15317048     Source Type: Journal    
DOI: 10.1097/MOH.0b013e32834bab2d     Document Type: Review

References (48)

1. Illanes S, Soothill P. Management of red cell alloimmunisation in pregnancy: The noninvasive monitoring of the disease. Prenat Diagn 2010; 30:668-673.
2. Daniels G, Finning K, Martin P, Massey E. Noninvasive prenatal diagnosis of fetal blood group phenotypes: Current practice and future prospects. Prenat Diagn 2009; 29:101-107.
3. Daniels G, Van der Schoot CE, Gassner C, Olsson ML. Report of the third international workshop on molecular blood group genotyping. Vox Sang 2009; 96:337-343.
4. van der Schoot CE, Soussan AA, Koelewijn J, et al. Noninvasive antenatal RHD typing. Transfus Clin Biol 2006; 13:53-57.
5. Mü ller SP, Bartels I, Stein W, et al. The determination of the fetal D status from maternal plasma for decision making on Rh prophylaxis is feasible. Transfusion 2008; 48:2292-2301.
6. Finning K, Martin P, Summers J, et al. 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: 816-818. (Pubitemid 351548224)
7. Clausen FB, Christiansen M, Steffensen R, et al. Report of the first nationally implemented clinical routine screening for fetal RHD in RhD negative pregnant women to ascertain the requirement for antenatal RhD prophylaxis. Transfusion 2011. (in press) First study evaluating routine antenatal RHD screening on a nation-wide basis.
8. Faas BH, Beuling EA, Christiaens GC, et al. Detection of fetal RHD-specific sequences in maternal plasma. Lancet 1998; 352:1196. (Pubitemid 28458542)
9. Lo YM, Tein MS, Lau TK, et al. Quantitative analysis of fetal DNA in maternal plasma and serum: Implications for noninvasive prenatal diagnosis. Am J Hum Genet 1998; 62:768-775. (Pubitemid 28194317)
10. Legler TJ, Liu Z, Mavrou A, et al. Workshop report on the extraction of foetal DNA from maternal plasma. Prenat Diagn 2007; 27:824-829. (Pubitemid 47425400)
11. Akolekar R, Finning K, Kuppusamy R, et al. Fetal RHD genotyping in maternal plasma at 11-13 weeks of gestation. Fetal Diagn Ther 2011; 29:301-306. Largest study on accuracy of fetal RHD genotyping at 11-13th week of gestation.
12. Bombard A, Akolekar R, Farkas D, et al. Fetal RHD genotype detection from circulating cell-free fetal DNA in maternal plasma in nonsensitized RhD negative women. Prenat Diagn 2011; 31:802-808.
13. Scheffer PG, van der Schoot CE, Page-Christiaens GC, de Haas M. Noninvasive fetal blood group genotyping of rhesus D, c, E and of K in alloimmunised pregnant women: Evaluation of a 7-year clinical experience. BJOG 2011; 118:1340-1348. Article describing true clinical practice and proposing a diagnostic algorithm to exclude false-negative or false-positive results.
14. Gutensohn K, Muller SP, Thomann K, et al. Diagnostic accuracy of noninvasive polymerase chain reaction testing for the determination of fetal rhesus C, c and E status in early pregnancy. BJOG 2010; 117:722-729.
15. Grill S, Banzola I, Li Y, et al. High throughput noninvasive determination of foetal Rhesus D status using automated extraction of cell-free foetal DNA in maternal plasma and mass spectrometry. Arch Gynecol Obstet 2009; 279:533-537.
16. Tynan JA, Angkachatchai V, Ehrich M, et al. Multiplexed analysis of circulating cell-free fetal nucleic acids for noninvasive prenatal diagnostic RHD testing. Am J Obstet Gynecol 2011; 204:251-256.
17. Hyland CA, Gardener GJ, Davies H, et al. Evaluation of noninvasive prenatal RHD genotyping of the fetus. Med J Aust 2009; 191:21-25.
18. Achargui S, Tijane M, Benchemsi N. Fetal RHD genotyping by PCR using plasma from D negative pregnant women. Transfus Clin Biol 2011; 18:13-19.
19. Chinen PA, Nardozza LMM, Martinhago CD, et al. Noninvasive determination of fetal rh blood group, D antigen status by cell-free DNA analysis in maternal plasma: Experience in a Brazilian population. Am J Perinatol 2010; 27:759-762.
20. Cardo L, Garcia BP, Alvarez FV. Noninvasive fetal RHD genotyping in the first trimester of pregnancy. Clin Chem Lab Med 2010; 48:1121-1126.
21. Clausen FB, Krog GR, Rieneck K, et al. Evaluation of two real-time multiplex PCR screening assays detecting fetal RHD in plasma from RhD negative women to ascertain the requirement for antenatal RhD prophylaxis. Fetal Diagn Ther 2011; 29:155-163.
22. Sedrak M, Hashad D, Adel H, et al. Use of free fetal DNA in prenatal noninvasive detection of fetal RhD status and fetal gender by molecular analysis of maternal plasma. Genet Test Mol Biomarkers 2011; 15:627-631.
23. Amaral DRT, Credidio DC, Pellegrino JJ, Castilho L. Fetal RHD genotyping by analysis of maternal plasma in a mixed population. J Clin Lab Anal 2011; 25:100-104.
24. Tounta G, Vrettou C, Kolialexi A, et al. A multiplex PCR for noninvasive fetal RHD genotyping using cell-free fetal DNA. In Vivo 2011; 25:411-417. First study in which all necessary controls for fetal RHD genotyping are multiplexed in a single reaction.
25. Wang XD, Wang BL, Ye SL, et al. Noninvasive foetal RHD genotyping via realtime PCR of foetal DNA from Chinese RhD-negative maternal plasma. Eur J Clin Invest 2009; 39:607-617.
26. Mohammed N, Kakal F, Somani M, Zafar W. Noninvasive prenatal determination of fetal RhD genotyping from maternal plasma: A preliminary study in Pakistan. J Coll Physicians Surg Pak 2010; 20:246-249.
27. Fernando MR, Chen K, Norton S, et al. A new methodology to preserve the original proportion and integrity of cell-free fetal DNA in maternal plasma during sample processing and storage. Prenat Diagn 2010; 30:418-424.
28. Finning K, Martin P, Summers J, Daniels G. Fetal genotyping for the K (Kell) and Rh C, c, and E blood groups on cell-free fetal DNA in maternal plasma. Transfusion 2007; 47:2126-2133. (Pubitemid 47623982)
29. Scheffer PG, Ait Soussan A, Verhagen OJ, et al. Noninvasive fetal genotyping of human platelet antigen-1a. BJOG 2011; 118:1392-1395.
30. Rouillac-Le Sciellour C, Serazin V, Brossard Y, et al. Noninvasive fetal RHD genotyping from maternal plasma. Use of a new developed free DNA fetal kit RhD. Transfus Clin Biol 2007; 14:572-577. (Pubitemid 351621126)
31. Scheffer PG, van der Schoot CE, Page-Christiaens GC, et al. Reliability of fetal sex determination using maternal plasma. Obstet Gynecol 2010; 115: 117-126.
32. Davanos N, Spathas DH. Relative quantitation of cell-free fetal DNA in maternal plasma using autosomal DNA markers. Clin Chim Acta 2011; 412:1539-1543.
33. Tang Dl, Li Y, Zhou X, et al. 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; 144:35-39.
34. Brojer E, Zupanska B, Guz K, et al. Noninvasive determination of fetal RHD status by examination of cell-free DNA in maternal plasma. Transfusion 2005; 45:1473-1480. (Pubitemid 44194651)
35. Zhou L, Thorson JA, Nugent C, et al. Noninvasive prenatal RHD genotyping by real-time polymerase chain reaction using plasma from D-negative pregnant women. Am J Obstet Gynecol 2005; 193:1966-1971. (Pubitemid 41737620)
36. Hill M, Finning K, Martin P, et al. Noninvasive prenatal determination of fetal sex: Translating research into clinical practice. Clin Genet 2011; 80:68-75.
37. Tynan JA, Mahboubi P, Cagasan LL, et al. Restriction enzyme-mediated enhanced detection of circulating cell-free fetal DNA in maternal plasma. J Mol Diagn 2011; 13:382-389. The only study so far which describes a technical approach based on SNPs for fetal DNA detection in virtually all pregnant woman.
38. Chan KCA, 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; 52:2211-2218. (Pubitemid 44924994)
39. Li Y, Jazzaz JA, Kellner LH, Brown SA. Incorporation of fetal DNA detection assay in a noninvasive RhD diagnostic test. Prenat Diagn 2010; 30:1010-1012.
40. Zejskova L, Jancuskova T, Kotlabova K, et al. Feasibility of fetal-derived hypermethylated RASSF1A sequence quantification in maternal plasma: Next step toward reliable noninvasive prenatal diagnostics. Exp Mol Pathol 2010; 89:241-247.
41. Nygren AO, Dean J, Jensen TJ, et al. Quantification of fetal DNA by use of methylation-based DNA discrimination. Clin Chem 2010; 56:1627-1635.
42. Sikora A, Zimmermann BG, Rusterholz C, et al. Detection of increased amounts of cell-free fetal DNA with short PCR amplicons. Clin Chem 2010; 56:136-138.
43. Hahn S, Lapaire O, Tercanli S, et al. Determination of fetal chromosome aberrations from fetal DNA in maternal blood: Has the challenge finally been met? Expert Rev Mol Med 2011; 13:e16.
44. Lo YM, Chan KC, Sun H, et al. Maternal plasma DNA sequencing reveals the genome-wide genetic and mutational profile of the fetus. Sci Transl Med 2010; 2:61ra91.
45. Legler T, Muller S, Haverkamp A, et al. Prenatal RhD testing: A review of studies published from 2006 to 2008. Transfus Med Hemother 2009; 36:189-198.
46. Avent ND. RHD genotyping from maternal plasma: Guidelines and technical challenges. Methods Mol Biol 2008; 444:185-201.
47. Minon JM, Gerard C, Schaaps JP, Foidart JM. Rh D foeto-maternal alloimmunization prophylaxis with anti-D immunoglobulins reviewed in the era of foetal RHD genotyping. Acta Clin Belg 2009; 64:195-202.
48. 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; 11:5.