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Table 1 Incidence and types of chromosome aberrations in spontaneous miscarriages by cytogenetic analysis (CA): new data from the German population and previous results from other studies published since 2000

From: Chromosome aberrations in a large series of spontaneous miscarriages in the German population and review of the literature

Study Number of cases n No results
n (%)
Normal karyotypes n (%) Aberrant karyotypes n (%) Monosomy X, Autosomal Monosomy, Mosaic aneuploidy n (%) Trisomy
(pure) n (%)
Triploidy*1, Tetraploidy*1, Polyploidy*1n (%) Structural chromosome aberrations*1n (%) Multiple aneuploidies*1n (%) Others*1n (%)
Present study 534 144(27) 153(39) 237(61) 16(7), 1(<1), 17(7) 111(47) 29(12), 25(10), 54(23) 10(4)*2 17(7)*3 11(5)
Gao and coworkers [13] 100 14(14) 37(43) 49(57) 2(4), 1(2), 0 40(82) 3(6), 2(4), 5(10) 1(2) 0 0
Lathi and coworkers [14] 30 0 10(33) 20(67) 0, 0, 0 14(70) 1(5), 1(5), 2(10) 2(10) 2(10) 0
Shearer and coworkers*3[6] 4,189 828(20) 1,627(48) 1,734(52) 1,836*4 186(10)*4, 13(1)*4, 74(4)*4 1,074(58)*4 223(12)*4,5, 55(3)*4,5, 278(15)*4,5 135(7)*4,6 57(3)*4 19(1)*4
Menten and coworkers [15] 100 28(28) 55(76) 17(24) 2(12), 0, 0 10(59) 3(18), 0, 3(18) 2(12) 0 0
Dória and coworkers [16] 232 59(25) 107(62) 66(38) 5(8), 1(1), 3(5) 33(50) 6(9), 6(9), 12(18) 4(6) 7(11) 1(1)
Zhang and coworkers [17] 115 23(20) 37(40) 55(60) 53*7 5(9)*7, 0, 2(4)*7 36(68)*7 3(6)*7, 3(6)*7, 6(11)*7 2(4)*7 2(4)*7 0
Robberecht and coworkers [18] 103 26(25) 55(71) 22(29) 3(14), 0, 3(14) 7(32) 4(18), 0, 4(18) 3(14) 1(4) 1(4)
Diego-Alvarez and coworkers [19] 178 76(43) 62(61) 40(39) 6(15), 0, 0 24(60) 3(7), 2(5), 5(12) 1(2) 4(10) 0
Bruno and coworkers [20] 78 11(14) 38(57) 29(43) 2(7), 0, 1(3) 18(62) 1(3), 0, 1(3) 5(17) 1(3) 1(3)
Hu and coworkers [21] 38 7(18) 15(48) 16(52) 2(12), 0, 0 12(75) 2(12), 0, 2(12) 0 0 0
Menasha and coworkers [5] 2,180 260*8(12) 821(43) 1,099(57) 96(9), 13(1), 4(1) 721(66) 116(11)*9, 18(2)*9, 152(14)*10 46(4) 67(6)*11 0
Sullivan and coworkers [22] 150 17(11) 77(58) 56(42) 55*12 5(9)*12, 0, 0 35(64)*12 Not reported, Not reported, 12(22)*12 3(5)*12 0 0
Schaeffer and coworkers [23] 41 0 25(61) 16(39) 1(6), 0, 0 14(87) 0, 0, 0 1(6) 0 0
Jobanputra and coworkers [24] 57 5(9) 22(42) 30(58) 2(7), 1(3), 0 17(57) 4(13), 2(7), 6(20) 0 2(7) 2(6)
Tabet and coworkers*13[25] 21 0 12(57) 9(43) 1(11) 6(67) 1(11), 0, 1(11) 1(11) 0 0
Lomax and coworkers [26] 301 48*13(16) 98(39) 155(61) 12(8), Not reported, Not reported Aneuploidy 111(72) Not reported, Not reported, 25(16) 7(4) 0 0
Summary 8447 1,546(18) 3,251(47) 3,650(53) 3,749(54) 346(9)* 14 , 30(1)* 14 , 104(3)* 14 2,283(61)* 14 399(11)* 14 , 114(3)* 14 , 568(15)* 14,5,10 223(6)* 14 160(4)* 14 35(1)* 14
Goddijn and Leschot (Review)*15 Not reported Not always reported 2,377(51) 2,319(49) 308(13), Not reported, Not reported 1,216(52) Not reported, Not reported 481(21) 132(6) Not reported 182(8)*16
Variations from (%) (1-39) (38-77) (2-90) (33-76) (8-31) (2-8)
Eiben and coworkers [4] 983 233(24) 370(49) 380(51) 40(11), Not reported, Not reported 229(60) 46(12), 32(8), 78(20) 18(5) 11(3) 4(1)
  1. CA data before 2000 are listed at the end of the table (Goddijn and Leschot, Review [8], Eiben and coworkers [4]).
  2. *1Mosaicism included.
  3. *2Single structural chromosome aberrations, all of them were unbalanced, see Table 2.
  4. *3Shearer and coworkers [6] analysed a total of 5,555 specimens. Unidentified tissue accounted for 25% (1,366/5,555) of their cases, chromosome analysis exclusively in chorionic villi/fetal tissue specimens was successful for 80% (3,361/4,189) of the cases and identified a chromosome aberration (single or more) in 52% (1,734/3,361) of the cases by CA.
  5. *4The frequencies were calculated from 1,734 chorionic villi/fetal specimens and from 102 unidentified tissue samples with an aberrant karyotype (n = 1,836).
  6. *5Samples included cases with a near-triploidy or near-tetraploidy.
  7. *6Ninety-one of the 135 cases (67%) were unbalanced structural chromosome aberrations, 6 of the 135 cases were balanced Robertsonian translocations with a female karyotype and likely represented maternal tissue.
  8. *7The data we have used, are based on 53 cases with a chromosome aberration (see Table 1 in the publication of Zhang and coworkers [17]).
  9. *8Sixty-five of the cases were contaminated and 195 of the cases showed no cell growth.
  10. *9Samples only included cases with a non-mosaic triploidy or tetraploidy.
  11. *10Samples included cases with a non-mosaic and mosaic triploidy or tetraploidy and/or with a near/pseudopolyploid karyotype.
  12. *11The data we have used, are based on the results from Table 2 in the publication of Menesha and coworkers [5]. The detailed analysis of their cases with multiple aneuploidy is shown in Appendix A and the exact number of multiple aneuploidies is higher (8%, 85/1,099).
  13. *12The data we have used, are based on 55 cases with a chromosome aberration (see Table 2 in the publication of Sullivan and coworkers [22]).
  14. *13 Fourty-eight samples could not be analysed by both CA and comparative genomic hybridization/flow cytometry.
  15. *14The frequencies were calculated from 3,749 aberrant karyotypes.
  16. *15Including the data of Eiben and coworkers [4].
  17. *16Including double and triple trisomies, mosaicism, hydatidiform mola, autosomal monosomy and miscellaneous.