Noninvasive fetal sex determination using cell-free fetal DNA: A systematic review and meta-analysis

JAMA

Volumn 306, Issue 6, 2011, Pages 627-636

  Devaney, Stephanie A ^a,b   Palomaki, Glenn E ^c   Scott, Joan A ^a,d   Bianchi, Diana W ^e  

^a JOHNS HOPKINS UNIVERSITY   (United States)

^b NATIONAL INSTITUTES OF HEALTH   (United States)

^c BROWN UNIVERSITY   (United States)

^d National Coalition for Health Professional Education in Genetics   (United States)

^e TUFTS MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; FETUS DNA; UNCLASSIFIED DRUG;

AREA UNDER THE CURVE; CONTROLLED STUDY; DIAGNOSTIC VALUE; DNA DETERMINATION; DNA SEQUENCE; FETUS; GENE AMPLIFICATION; GENETIC HETEROGENEITY; GESTATIONAL AGE; HUMAN; INTERMETHOD COMPARISON; MATERNAL BLOOD; META ANALYSIS; NON INVASIVE PROCEDURE; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PREDICTIVE VALUE; PREGNANCY; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; REAL TIME POLYMERASE CHAIN REACTION; REVIEW; SENSITIVITY AND SPECIFICITY; SEX DETERMINATION PROCESS; SYSTEMATIC REVIEW; URINALYSIS; Y CHROMOSOME; BLOOD; FEMALE; GENETICS; MALE; METHODOLOGY; PRENATAL DIAGNOSIS; SEX DETERMINATION; URINE;

CHROMOSOMES, HUMAN, Y; DNA; FEMALE; FETUS; HUMANS; MALE; POLYMERASE CHAIN REACTION; PREDICTIVE VALUE OF TESTS; PREGNANCY; PRENATAL DIAGNOSIS; SENSITIVITY AND SPECIFICITY; SEQUENCE ANALYSIS, DNA; SEX DETERMINATION ANALYSIS;

EID: 80051564369     PISSN: 00987484     EISSN: 15383598     Source Type: Journal    
DOI: 10.1001/jama.2011.1114     Document Type: Review

References (91)

1. Eddleman KA, Malone FD, Sullivan L, et al. Pregnancy loss rates after midtrimester amniocentesis. Obstet Gynecol. 2006;108(5):1067-1072. (Pubitemid 44665399)
2. Mujezinovic F, Alfirevic Z. Procedure-related complications of amniocentesis and chorionic villous sampling. Obstet Gynecol. 2007;110(3):687-694. (Pubitemid 47359597)
3. Tabor A, Vestergaard CH, Lidegaard O. Fetal loss rate after chorionic villus sampling and amniocentesis. Ultrasound Obstet Gynecol. 2009;34(1):19-24.
4. Odeh M, Granin V, Kais M, Ophir E, Bornstein J. Sonographic fetal sex determination. Obstet Gynecol Surv. 2009;64(1):50-57.
5. Chelli D, Methni A, Dimassi K, et al. Fetal sex assignment by first trimester ultrasound: a Tunisian experience. Prenat Diagn. 2009;29(12):1145- 1148.
6. Lo YM, Corbetta N, Chamberlain PF, et al. Presence of fetal DNA in maternal plasma and serum. Lancet. 1997;350(9076):485-487. (Pubitemid 27343304)
7. Hill M, Finning K, Martin P, et al. Non-invasive prenatal determination of fetal sex. Clin Genet. 2011; 80(1):68-75.
8. Bianchi DW. At-home fetal DNA gender testing. Obstet Gynecol. 2006;107(2, pt 1):216-218.
9. Javitt GH. Pink or blue? the need for regulation is black and white. Fertil Steril. 2006;86(1):13-15. (Pubitemid 43962980)
10. Teutsch SM, Bradley LA, Palomaki GE, et al EGAPP Working Group. The Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Initiative. Genet Med. 2009;11(1):3-14.
11. Zamora J, Abraira V, Muriel A, et al. Meta-DiSc: a software for meta-analysis of test accuracy data.BMC Med Res Methodol. 2006;6:31.
12. Moses LE, Shapiro D, Littenberg B. Combining independent studies of a diagnostic test into a summary ROC curve. Stat Med. 1993;12(14):1293-1316.
13. Agresti A. An Introduction to Categorical Data Analysis. 2nd ed. Hoboken, NJ: John Wiley & Sons Inc; 2007.
14. Al-Yatama MK, Mustafa AS, Ali S, Abraham S, Khan Z, Khaja N. Detection of Y chromosomespecific DNA in the plasma and urine of pregnant women using nested polymerase chain reaction. Prenat Diagn. 2001;21(5):399-402. (Pubitemid 32520149)
15. Majer S, Bauer M, Magnet E, et al. Maternal urine for prenatal diagnosis - an analysis of cell-free fetal DNAin maternal urine and plasma in the third trimester. Prenat Diagn. 2007;27(13):1219-1223. (Pubitemid 350305437)
16. 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(10):932-937. (Pubitemid 47597921)
17. Smid M, Lagona F, de Benassuti L, et al. Evaluation of different approaches for fetal DNA analysis from maternal plasma and nucleated blood cells. Clin Chem. 1999;45(9):1570-1572. (Pubitemid 29419015)
18. Falcinelli C, Battafarano S, Neri C, et al. Firsttrimester fetal sex prediction by deoxyribonucleic acid analysis of maternal peripheral blood. Am J Obstet Gynecol. 1999;181(3):675-680. (Pubitemid 29453532)
19. Higgins JP, Thompson SG, Deeks JJ, Altman DG. Measuring inconsistency in meta-analyses. BMJ. 2003; 327(7414):557-560. (Pubitemid 37088507)
20. Rosman AS, Korsten MA. Application of summary receiver operating characteristics (sROC) analysis to diagnostic clinical testing. Adv Med Sci. 2007; 52:76-82.
21. Walter SD. Properties of the summary receiver operating characteristic (SROC) curve for diagnostic test data. Stat Med. 2002;21(9):1237-1256. (Pubitemid 34467232)
22. Lagona F, Smid M, Papasergio N, Ferrari A, Ferrari M, Cremonesi L. Multiple testing in fetal gender determination from maternal blood by polymerase chain reaction. Hum Genet. 1998;102(6):687-690. (Pubitemid 28362766)
23. Lo YM, Tein MS, Lau TK, et al. Quantitative analysis of fetal DNA in maternal plasma and serum. Am J Hum Genet. 1998;62(4):768-775.
24. Zhong XY, Bürk MR, Troeger C, Kang A, Holzgreve W, Hahn S. Fluctuation of maternal and fetal free extracellular circulatory DNA in maternal plasma. Obstet Gynecol. 2000;96(6):991-996.
25. Chen H, Wang T, He G, Zhu L, Ma T. Gene analysis of free fetal DNA in maternal plasma. J Tongji Med Univ. 2001;21(4):329-331. (Pubitemid 41289834)
26. Costa JM, Benachi A, Gautier E, Jouannic JM, Ernault P, Dumez Y. First-trimester fetal sex determination in maternal serum using real-time PCR. Prenat Diagn. 2001;21(12):1070-1074. (Pubitemid 34056191)
27. Honda H, Miharu N, Ohashi Y, Ohama K. Successful diagnosis of fetal gender using conventional PCR analysis of maternal serum. Clin Chem. 2001; 47(1):41-46. (Pubitemid 32064273)
28. Rijnders RJ, van der Schoot CE, Bossers B, et al. Fetal sex determination from maternal plasma in pregnancies at risk for congenital adrenal hyperplasia. Obstet Gynecol. 2001;98(3):374-378.
29. Sekizawa A, Kondo T, Iwasaki M, et al. Accuracy of fetal gender determination by analysis of DNA in maternal plasma. Clin Chem. 2001;47(10):1856-1858. (Pubitemid 32881203)
30. Wei C, Saller DN, Sutherland JW. Detection and quantification by homogeneous PCR of cell-free fetal DNA in maternal plasma. Clin Chem. 2001; 47(2):336-338. (Pubitemid 32142935)
31. Zhong XY, Holzgreve W, Hahn S. Risk free simultaneous prenatal identification of fetal Rhesus D status and sex by multiplex real-time PCR using cell free fetal DNA in maternal plasma. Swiss Med Wkly. 2001;131(5-6):70-74. (Pubitemid 32216319)
32. Honda H, Miharu N, Ohashi Y, et al. Fetal gender determination in early pregnancy through qualitative and quantitative analysis of fetal DNA in maternal serum. Hum Genet. 2002;110(1): 75-79. (Pubitemid 36067421)
33. Mazza V, Falcinelli C, Percesepe A, et al. Noninvasive first trimester fetal gender assignment in pregnancies at risk for X-linked recessive diseases. Prenat Diagn. 2002;22(10):919-924. (Pubitemid 35175995)
34. Bischoff FZ, Dang DX, Marquez-Do D, et al. Detecting fetal DNA from dried maternal blood spots. Reprod Biomed Online. 2003;6(3):349-351.
35. Li Y, Zhong XY, Kang A, Troeger C, Holzgreve W, Hahn S. Inability to detect cell free fetal DNA in the urine of normal pregnant women nor in those affected by preeclampsia associated HELLP syndrome. J Soc Gynecol Investig. 2003;10(8):503-508. (Pubitemid 37510010)
36. Rijnders RJ, Van Der Luijt RB, Peters ED, et al. Earliest gestational age for fetal sexing in cell-free maternal plasma. Prenat Diagn. 2003;23(13):1042-1044. (Pubitemid 38084143)
37. Samura O, Miharu N, Hyodo M, et al. Cell-free fetal DNA in maternal circulation after amniocentesis. Clin Chem. 2003;49(7):1193-1195. (Pubitemid 36751112)
38. Tungwiwat W, Fucharoen G, Ratanasiri T, et al. Non-invasive fetal sex determination using a conventional nested PCR analysis of fetal DNA in maternal plasma. Clin Chim Acta. 2003;334(1-2):173-177. (Pubitemid 36836072)
39. Wataganara T, LeShane ES, Farina A, et al. Maternal serum cell-free fetal DNA levels are increased in cases of trisomy 13 but not trisomy 18. Hum Genet. 2003;112(2):204-208. (Pubitemid 36869105)
40. Cremonesi L, Galbiati S, Foglieni B, et al. Feasibility study for a microchip-based approach for noninvasive prenatal diagnosis of genetic diseases. Ann N Y Acad Sci. 2004;1022:105-112. (Pubitemid 38951589)
41. Ho SS, Damayanti Z, Chua WY, et al. Noninvasive prenatal diagnosis of fetal gender using realtime polymerase chain reaction amplification of SRY in maternal plasma. Ann Acad Med Singapore. 2004; 33(5)(suppl):S61-S62.
42. Hwa HL, Ko TM, Yen ML, Chiang YL. Fetal gender determination using real-time quantitative polymerase chain reaction analysis of maternal plasma. J Formos Med Assoc. 2004;103(5):364-368.
43. Johnson KL, Dukes KA, Vidaver J, et al. Interlaboratory comparison of fetal male DNA detection from common maternal plasma samples by real-time PCR. Clin Chem. 2004;50(3):516-521. (Pubitemid 38297300)
44. Rijnders RJ, Christiaens GC, Bossers B, et al. Clinical applications of cell-free fetal DNA from maternal plasma. Obstet Gynecol. 2004;103(1):157-164. (Pubitemid 39248481)
45. Wataganara T, Chen AY, LeShane ES, et al. Cellfree fetal DNA levels in maternal plasma after elective first-trimester termination of pregnancy. Fertil Steril. 2004;81(3):638-644. (Pubitemid 38376122)
46. Zhao XX, Suzumori N, Ozaki Y, Sato T, Suzumori K. Examination of fetal cells and cell-free fetal DNA in maternal blood for fetal gender determination. Gynecol Obstet Invest. 2004;58(1):57-60. (Pubitemid 39140410)
47. Galbiati S, Smid M, Gambini D, et al. Fetal DNA detection in maternal plasma throughout gestation. Hum Genet. 2005;117(2-3):243-248. (Pubitemid 43136801)
48. 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(12):1111-1116. (Pubitemid 43016291)
49. Koide K, Sekizawa A, Iwasaki M, et al. Fragmentation of cell-free fetal DNA in plasma and urine of pregnant women. Prenat Diagn. 2005;25(7):604-607. (Pubitemid 41098104)
50. Pan PD, Peter I, Lambert-Messerlian GM, et al. Cell-free fetal DNA levels in pregnancies conceived by IVF. Hum Reprod. 2005;20(11):3152-3156. (Pubitemid 41662670)
51. Wataganara T, Chen AY, LeShane ES, et al. Changes of cell-free fetal DNA in maternal plasma after elective termination of pregnancy. Clin Chem. 2005; 51(1):217-219. (Pubitemid 40024037)
52. Wataganara T, Metzenbauer M, Peter I, et al. Placental volume, as measured by 3-dimensional sonography and levels of maternal plasma cell-free fetal DNA. Am J Obstet Gynecol. 2005;193(2):496-500. (Pubitemid 41159547)
53. Zhu B, Sun QW, Lu YC, et al. Prenatal fetal sex diagnosis by detecting amelogenin gene in maternal plasma. Prenat Diagn. 2005;25(7):577-581. (Pubitemid 41098099)
54. Zimmermann B, El-Sheikhah A, Nicolaides K, Holzgreve W, Hahn S. Optimized real-time quantitative PCR measurement of male fetal DNA in maternal plasma. Clin Chem. 2005;51(9):1598-1604. (Pubitemid 41233093)
55. Zolotukhina TV, Shilova NV, Voskoboeva EY. Analysis of cell-free fetal DNA in plasma and serum of pregnant women. J Histochem Cytochem. 2005; 53(3):297-299. (Pubitemid 40344061)
56. Bauer M, Hutterer G, Eder M, et al. A prospective analysis of cell-free fetal DNA concentration in maternal plasma as an indicator for adverse pregnancy outcome. Prenat Diagn. 2006;26(9):831-836. (Pubitemid 44519658)
57. Chi C, Hyett JA, Finning KM, Lee CA, Kadir RA. Non-invasive first trimester determination of fetal gender. BJOG. 2006;113(2):239-242.
58. Davalieva K, Dimcev P, Efremov GD, Plaseska-Karanfilska D. Non-invasive fetal sex determination using real-time PCR. J Matern Fetal Neonatal Med. 2006;19(6):337-342. (Pubitemid 43995615)
59. Ge Q, Bai Y, Liu Z, et al. Detection of fetal DNA in maternal plasma bymicroarray coupled with emulsions PCR. Clin Chim Acta. 2006;369(1):82-88. (Pubitemid 43783400)
60. Illanes S, Denbow ML, Smith RP, et al. Detection of cell-free fetal DNA in maternal urine. Prenat Diagn. 2006;26(13):1216-1218. (Pubitemid 46032335)
61. Jorgez CJ, Dang DD, Simpson JL, Lewis DE, Bischoff FZ. Quantity versus quality: optimal methods for cellfree DNA isolation from plasma of pregnant women. Genet Med. 2006;8(10):615-619. (Pubitemid 44673995)
62. Li Y, Holzgreve W, Kiefer V, Hahn S. Maldi-tof mass spectrometry compared with real-time PCR for detection of fetal cell-free DNA in maternal plasma. Clin Chem. 2006;52(12):2311-2312. (Pubitemid 44925014)
63. Martinhago CD, de Oliveira RM, Tomita&tild;o Canas MdoC, et al. Accuracy of fetal gender determination in maternal plasma at 5 and 6 weeks of pregnancy. Prenat Diagn. 2006;26(13):1219-1223.
64. Santacroce R, Vecchione G, Tomaiyolo M, et al. Identification of fetal gender in maternal blood is a helpful tool in the prenatal diagnosis of haemophilia. Haemophilia. 2006;12(4):417-422.
65. Stanghellini I, Bertorelli R, Capone L, et al. Quantitation of fetal DNA in maternal serum during the first trimester of pregnancy by the use of a DAZ repetitive probe. Mol Hum Reprod. 2006;12(9):587-591. (Pubitemid 44642444)
66. Zhong XY, Holzgreve W, Hahn S. Direct quantification of fetal cells in maternal blood by real-time PCR. Prenat Diagn. 2006;26(9):850-854. (Pubitemid 44519661)
67. Zhong XY, Holzgreve W, Tercanli S, Wenzel F, Hahn S. Cell-free foetal DNA in maternal plasma does not appear to be derived from the rich pool of cellfree foetal DNA in amniotic fluid. Arch Gynecol Obstet. 2006;273(4):221-226. (Pubitemid 43004694)
68. Al-Yatama MK, Mustafa AS, Al-Kandari FM, et al. Polymerase-chain- reaction-based detection of fetal rhesus D and Y-chromosome-specific DNA in the whole blood of pregnant women during different trimesters of pregnancy. Med Princ Pract. 2007;16(5): 327-332. (Pubitemid 47294486)
69. Illanes S, Denbow M, Kailasam C, Finning K, Soothill PW. Early detection of cell-free fetal DNA in maternal plasma. Early Hum Dev. 2007;83(9):563-566. (Pubitemid 47380125)
70. Lapaire O, Volgmann T, Huang D, et al. Maternal smoking: effect on circulating cell-free fetal and total DNA levels in maternal plasma from the second trimester. Obstet Gynecol. 2007;110(6):1358-1363. (Pubitemid 351326081)
71. Liu FM,Wang XY, Feng X, Wang W, Ye YX, Chen H. Feasibility study of using fetal DNA in maternal plasma for non-invasive prenatal diagnosis. Acta Obstet Gynecol Scand. 2007;86(5):535-541. (Pubitemid 46676304)
72. Bustamante-Aragones A, Rodriguez de Alba M, Gonzalez-Gonzalez C, et al. Foetal sex determination in maternal blood from the seventh week of gestation and its role in diagnosing haemophilia in the foetuses of female carriers. Haemophilia. 2008;14 (3):593-598. (Pubitemid 351638749)
73. Horinek A, Korabecna M, Panczak A, et al. Cellfree fetal DNA in maternal plasma during physiological single male pregnancies: methodology issues and kinetics. Fetal Diagn Ther. 2008;24(1):15-21. (Pubitemid 352009138)
74. Lun FM, Chiu RW, Allen Chan KC, et al. Microfluidics digital PCR reveals a higher than expected fraction of fetal DNA in maternal plasma. Clin Chem. 2008; 54(10):1664-1672.
75. 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(6):525-530. (Pubitemid 351946955)
76. Urato AC, Peter I, Canick J, et al. Smoking in pregnancy is associated with increased total maternal serum cell-free DNA levels. Prenat Diagn. 2008;28 (3):186-190. (Pubitemid 351427935)
77. Vainer OB, Katokhin AV, Kustov SM, et al. A new Y chromosome marker for noninvasive fetal gender determination. Ann N Y Acad Sci. 2008;1137: 157-161.
78. Wagner J, Dzijan S, Pavan-Jukić D, Wagner J, Lauc G. Analysis of multiple loci can increase reliability of detection of fetal Y-chromosome DNA in maternal plasma. Prenat Diagn. 2008;28(5):412-416. (Pubitemid 351838446)
79. Shekhtman EM, Anne K, Melkonyan HS, et al. Optimization of transrenal DNA analysis: detection of fetal DNA in maternal urine. Clin Chem. 2009;55 (4):723-729.
80. Scheffer PG, van der Schoot CE, Page-Christiaens GC, et al. Reliability of fetal sex determination using maternal plasma. Obstet Gynecol. 2010;115(1): 117-126.
81. 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 (1):136-138.
82. Treff NR, Tao X, Su J, et al. Tracking embryo implantation using cell-free fetal DNA enriched from maternal circulation at 9 weeks gestation. Mol Hum Reprod. 2011;17(7):434-438.
83. Miura K, Higashijima A, Shimada T, et al. Clinical application of fetal sex determination using cell-free fetal DNA in pregnant carriers of X-linked genetic disorders. J Hum Genet. 2011;56(4):296-299.
84. Akolekar R, Farkas DH, VanAgtmael AL, et al. Fetal sex determination using circulating cell-free fetal DNA (ccffDNA) at 11 to 13 weeks of gestation. Prenat Diagn. 2010;30(10):918-923.
85. Vora NL, Johnson KL, Lambert-Messerlian G, et al. Relationships between cell-free DNA and serum analytes in the first and second trimesters of pregnancy. Obstet Gynecol. 2010;116(3):673-678.
86. Vora NL, Johnson KL, Peter I, et al. Circulating cell-free DNA levels increase variably following chorionic villus sampling. Prenat Diagn. 2010;30(4): 325-328.
87. Hung TH, Lo LM, Chiu TH, et al. A longitudinal study of oxidative stress and antioxidant status in women with uncomplicated pregnancies throughout gestation. Reprod Sci. 2010;17(4):401-409.
88. Mortarino M, Garagiola I, Lotta LA, Siboni SM, Semprini AE, Peyvandi F. Non-invasive tool for foetal sex determination in early gestational age [published online ahead of print April 15, 2011]. Haemophilia. 2011. doi:10.1111/j.1365-2516.2011.02537.x.
89. González-González C, Garcia-Hoyos M, Trujillo-Tiebas MJ, et al. Application of fetal DNA detection in maternal plasma. J Histochem Cytochem. 2005;53(3):307-314.
90. Egger M, Juni P, Bartlett C, Holenstein F, Sterne J. How important are comprehensive literature searches and the assessment of trial quality in systematic reviews? Health Technol Assess. 2003;7(1):1-76.
91. Sampson M, BarrowmanNJ, Moher D, et al. Should meta-analysts search Embase in addition to Medline? J Clin Epidemiol. 2003;56(10):943-955. (Pubitemid 37268081)