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Chromosomal Abnormalities in Early Pregnancy Losses: A Study of 900 Samples

Gj Bozhinovski
Gj Bozhinovski
, 
M Terzikj
M Terzikj
, 
K Kubelka-Sabit
K Kubelka-Sabit
, 
Dz Jasar
Dz Jasar
, 
S Lazarevski
S Lazarevski
, 
V Livrinova
V Livrinova
 oraz 
D Plaseska-Karanfilska
D Plaseska-Karanfilska
   | 12 mar 2024
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Article Category: Original Article
Data publikacji: 12 mar 2024
Zakres stron: 11 - 20
DOI: https://doi.org/10.2478/bjmg-2023-0014
Słowa kluczowe
© 2023 Gj Bozhinovski et al., published by Sciendo
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Figure 1.

Distribution of chromosomal trisomies in EPLs as a percentage of all detected trisomies (n=286).
Distribution of chromosomal trisomies in EPLs as a percentage of all detected trisomies (n=286).

Figure 2.

Multiple aneuploidies, partial chromosomal abnormalities, aneuploidies accompanied by partial abnormality detected among the studied EPLs.
Multiple aneuploidies, partial chromosomal abnormalities, aneuploidies accompanied by partial abnormality detected among the studied EPLs.

Distribution of the chromosomal trisomies among all studied EPLs

Trisomy ≤30 n (%) 31–35 n (%) ≥36 n (%)
16 22 (8.30) 29 (12.03) 25 (9.54)
22 0 (0.00) 10 (4.15) 35 (13.36)
21 7 (7.64) 9 (3.73) 13 (4.96)
15 0 (0.00) 4 (1.66) 22 (8.40)
13 7 (2.64) 7 (2.90) 6 (2.29)
14 7 (2.64) 4 (1.66) 5 (1.91)
Other 13 (4.91) 18 (7.47) 43 (16.41)
Total trisomy 56 (48.71) 81 (62.3) 149 (79.68)
Total POC 265 241 262

Characteristics of the study groups

Characteristic Study groups All cases Macedonian Albanian Other
n (%) MA±SD n (%) MA±SD n (%) MA±SD n (%) MA±SD
n=768 32.9±5.35 n=528 34.14±4.90 n=208 33.16±5.46 n=32 31.90±5.68
Maternal age ≤30 265 (34.50) 27.19±2.56 131 (24.81) 27.82±2.18 121 (58.17) 26.53±2.72 13 (40.62) 26.92±3.22
31–35 241 (31.37) 32.87±1.39 178 (33.71) 32.89±1.40 52 (25.00) 32.82±1.41 11 (34.37) 32.27±0.90
≥36 262 (34.11) 38.96±2.39 219 (41.47) 38.94±2.31 35 (16.82) 39.02±2.61 8 (25.00) 39.5±3.46
ND / / / / / / / /
History of PL Sporadic 268 (34.89) 33.16±5.26 202 (38,25) 33.95±4.78 48 (23,07) 29.60±5.55 18 (56,25) 33.61±5.81
RPL 259 (33,72) 33.1±5.24 164 (31,06) 34.67±4.71 86 (41,34) 30.56±5.11 9 (28,12) 28.77±4.14
ND 241 (31,38) / 162 (30,68) / 74 (35,57) / 5 (15,62) /
Previous live birth Yes 142 (18,48) 34.66±4.75 95 (17,99) 35.76±4.48 41 (19,71) 32.82±4.64 6 (18,75) 29.66±2.25
No 383 (49,86) 32.57±5.32 269 (50,94) 33.77±4.76 93 (44,71) 29.07±5.15 21 (65,62) 32.66±6.26
ND 243 (31,64) / 164 (31,06) / 74 (35,57) / 5 (15,62) /
Maternal ABO group 0 183 (23,821) 33.09±5.52 123 (23,29) 34.73±4.98 55 (26,44) 29.38±4.98 5 (15,62) 33.60±4.72
A 183 (23,82) 33.61±4.95 138 (26,13) 34.41±4.60 40 (19,23) 31.32±4.99 5 (15,62) 30.00±7.68
B 67 (8,72) 32.82±5.03 46 (8,71) 33.91±4.63 15 (7,21) 30.46±5.99 6 (18,75) 30.33±2.42
AB 36 (4,68) 31.63±5.57 21 (3,97) 33.33±5.38 9 (4,32) 28.11±5.46 6 (18,75) 31.00±4.28
ND 299 (38,93) / 200 (37,87) / 89 (42,78) / 10 (31,25) /
Maternal RhD status RhD+ 410 (53,38) 33.19±5.26 288 (54,54) 34.4±4.81 102 (49,03) 30.14±5.23 20 (62,5) 31.30±5.00
RhD− 59 (7,68) 32.91±5.21 40 (7,57) 34.3±4.75 17 (8,17) 29.64±5.08 2 (6,25) 30.00±2.82
ND 299 (38,93) / 200 (37,87) / 89 (42,78) / 10 (31,25) /
Gestational week 6 36 (4,68) 33.02±4.64 24 (4,54) 34.66±3.71 11 (5,28) 29.90±4.90 1 (3,12) 28.00±0.00
7 80 (10,41) 34.27±5.29 58 (10,98) 34.75±4.98 16 (7,69) 31.93±5.37 6 (18,75) 35.83±7.02
8 102 (13,28) 32.89±5.43 71 (13,44) 34.45±5.05 26 (12,5) 29.53±4.53 5 (15,62) 28.20±5.21
9 65 (8,46) 32.21±5.28 46 (8,71) 32.91±4.83 17 (8,17) 30.23±5.99 2 (6,25) 33.00±8.48
10 33 (4,29) 33.72±5.51 24 (4,54) 34.91±4.97 7 (3,36) 31.14±6.54 2 (6,25) 28.5±3.53
11 39 (5,07) 30.74±4.98 26 (4,92) 31.65±4.31 11 (5,28) 29.27±6.35 2 (6,25) 27.00±1.41
ND 413 (53,77) / 279 (52,84) / 120 (57,69) / 14 (43,75) /
Fetal sex Male 379 (49.34) 33.03±5.26 264 (50.00) 34.09±4.74 101 (48.55) 30.21±5.46 14 (43.75) 33.42±6.01
Female 389 (50.65) 32.93±5.44 264 (50.00) 34.19±5.06 107 (51.44) 30.20±5.27 18 (56.25) 30.72±5.28
Total 768 (100.00) / 528 (100.00) / 208 (100.00) / 32 (100.00) /

Comparisons of the incidence of chromosomal abnormalities between the three groups according to the maternal age (Odds ratios and p-values).

≤30 (n) 31–35 (n) OR (95% CI) p >36 (n) OR (95% CI) p
Abnormal 115 130 1.52 (1.07–2.16) 0.018 187 3,25 (2.26–4.66) < 0.0001
Trisomy 56 81 1.88 (1.26–2.81) 0.0017 149 4.92 (3.35–7.21) < 0.0001
Triploidy 30 24 0.64 (0.24–1,17) 0.152 12 0.19 (0.09–0.39) < 0.0001
Monosomy 19 16 0.89 (0.43–1.85) 0.771 12 0.34 (0.16–0.74) 0.0066
Trisomy 16 22 25 0.86 (0.43–1.74) 0.678 29 0.31 (0.15–0.62) 0.0009
Trisomy 22 0 10 16.59 (0.95–289.31) 0.054 35 35.03 (2.11–581.6) 0.013
Trisomy 21 7 9 0.87 (0.30–2.50) 0.803 13 0.66 (0.25–1.77) 0.419
Trisomy 15 0 4 6.56 (0.34–124.34) 0.210 22 19.94 (1.18–334.53) 0.037
Trisomy 13 7 7 0.66 (0.21–2.00) 0.465 6 0.29 (0.09–0.91) 0.034
Trisomy 14 7 4 0.36 (0.10–1.30) 0.121 5 0.24 (0.07–0.80) 0.020
Other abnormalities 10 10 1.10 (0.45–2.70) 0.828 14 1.43 (0.62–3.30) 0.389

The most common chromosomal trisomies in the different studied groups shown in table with number of cases as well as percentage.

Clinical characteristics Study groups Trisomy 16 Trisomy 22 Trisomy 21 Trisomy 15 Trisomy 13 Trisomy 14 Other Total
n % n % n % n % n % n % n % n %
Age group ≤30 22 39.29 0 0.00 7 12.50 0 0.00 7 12.50 7 12.50 13 23.21 56 100.00
31–35 29 35.80 10 12.35 9 11.11 4 4.94 7 8.64 4 4.94 18 22.22 81 100.00
≥36 25 16.78 35 23.49 13 8.72 22 14.77 6 4.03 5 3.36 43 28.86 149 100.00
Ethnic origin MK 53 24.54 40 18.52 23 10.65 18 8.33 11 5.09 12 5.56 59 27.31 216 100.00
AL 19 32.76 4 6.90 5 8.62 7 12.07 8 13.79 3 5.17 12 20.69 58 100.00
History of miscarriage Sporadic 25 22.94 21 19.27 9 8.26 12 11.01 7 6.42 5 4.59 30 27.52 109 100.00
RPL 24 25.53 17 18.09 5 5.32 11 11.70 7 7.45 6 6.38 24 25.53 94 100.00
Previous live birth Yes 9 15.00 11 18.33 2 3.33 11 18.33 3 5.00 3 5.00 21 35.00 60 100.00
No 40 27.97 27 18.88 12 8.39 12 8.39 10 6.99 8 5.59 34 23.78 143 100.00
Maternal Blood Group 0 20 31.75 10 15.87 6 9.52 11 17.46 4 6.35 3 4.76 9 14.29 63 100.00
A 19 24.68 14 18.18 3 3.90 9 11.69 4 5.19 3 3.90 25 32.47 77 100.00
B 6 23.08 5 19.23 0 0.00 4 15.38 2 7.69 1 3.85 8 30.77 26 100.00
AB 4 25.00 7 43.75 0 0.00 1 6.25 0 0.00 1 6.25 3 18.75 16 100.00
Maternal RhD status RhD+ 43 26.38 29 17.79 7 4.29 22 13.50 8 4.91 8 4.91 46 28.22 163 100.00
RhD− 6 30.00 3 15.00 2 10.00 3 15.00 2 10.00 0 0.00 4 20.00 20 100.00
Gestational week 6 5 35.71 2 14.29 1 7.14 0 0.00 0 0.00 1 7.14 5 35.71 14 100.00
7 13 34.21 7 18.42 1 2.63 0 0.00 3 7.89 4 10.53 10 26.32 38 100.00
8 8 21.05 7 18.42 1 2.63 4 10.53 2 5.26 3 7.89 13 34.21 38 100.00
9 3 12.50 4 16.67 4 16.67 5 20.83 3 12.50 1 4.17 4 16.67 24 100.00
10 3 30.00 1 10.00 0 0.00 3 30.00 0 0.00 0 0.00 3 30.00 10 100.00
11 3 25.00 2 16.67 3 25.00 1 8.33 1 8.33 0 0.00 2 16.67 12 100.00
Foetal sex Male 40 28.36 19 13.47 13 9.21 10 7.09 10 7.09 10 7.09 19 13.47 141 100.00
Female 37 25.34 26 17.80 15 10.27 16 10.95 9 6.16 6 4.10 37 25.34 146 100.00

Frequency of chromosomal abnormalities in EPLs according to different clinical characteristics.

Clinical characteristics Study groups Total Chromosomal abnormalities Trisomy n (%) Triploidy n (%) Monosomy n (%) Multiple aneuploidies n (%) Partial n (%) Aneuploidy + partial n (%) Total n (%)
n n (%)
Total 768 432 (56.25) 286 (66.20) 66 (15.28) 47 (10.88) 13 (3.01) 16 (3.70) 4 (0.93) 432 (100)
Age group ≤30 265 115 (43.40) 56 (48.70) 30 (26.09) 19 (16.52) 2 (1.74) 7 (6.09) 1 (0.87) 115 (100)
31–35 241 130 (53.94) 81 (62.31) 24 (18.46) 16 (12.31) 0 (0.00) 7 (5.38) 2 (1.54) 130 (100)
≥36 262 187 (71.37) 149 (79.68) 12 (6.42) 12 (6.42) 11 (5.88) 2 (1.07) 1 (0.53) 187 (100)
Ethnic origin Macedonian 528 309 (58.52) 216 (69.90) 38 (12.30) 29 (9.39) 13 (4.21) 10 (3.24) 3 (0.97) 309 (100)
Albanian 208 106 (50.96) 58 (54.72) 27 (25.47) 16 (15.09) 0 (0.00) 3 (2.83) 2 (1.89) 106 (100)
Other 32 17 (53.13) 12 (70.59) 1 (5.88) 2 (11.76) 0 (0.00) 2 (11.76) 0 (0.00) 17 (100)
History of PL Sporadic 268 164 (61.19) 109 (66.46) 22 (13.41) 19 (11.59) 6 (3.66) 7 (4.27) 1 (0.61) 164 (100)
RPL (≥2) 259 143 (55.21) 94 (65.73) 20 (13.99) 17 (11.89) 4 (2.80) 5 (3.50) 3 (2.10) 143 (100)
Previous live birth Yes 142 88 (61.97) 60 (68.18) 11 (12.50) 14 (15.91) 2 (2.27) 1 (1.14) 0 (0.00) 88 (100)
No 383 218 (56.92) 143 (65.60) 31 (14.22) 21 (9.63) 8 (3.67) 11 (5.05) 4 (1.83) 218 (100)
Maternal Blood Group 0 183 103 (56.28) 63 (61.17) 14 (13.59) 15 (14.56) 5 (4.85) 4 (3.88) 2 (1.94) 103 (100)
A 183 115 (62.84) 77 (66.96) 16 (13.91) 12 (10.43) 4 (3.48) 4 (3.48) 2 (1.74) 115 (100)
B 67 34 (50.75) 26 (76.47) 4 (11.76) 3 (8.82) 0 (0.00) 1 (2.94) 0 (0.00) 34 (100)
AB 36 23 (63.89) 16 (69.57) 3 (13.04) 3 (13.04) 0 (0.00) 1 (4.35) 0 (0.00) 23 (100)
Maternal RhD status RhD + 410 244 (59.51) 163 (66.80) 33 (13.52) 31 (12.70) 6 (2.46) 7 (2.87) 4 (1.64) 244 (100)
RhD− 59 31 (52.54) 20 (64.52) 4 (12.90) 3 (9.68) 1 (3.23) 3 (9.68) 0 (0.00) 31 (100)
Gestational week 6 36 19 (52.78) 14 (73.68) 2 (10.53) 1 (5.26) 0 (0.00) 1 (5.26) 0 (0.00) 19 (100)
7 80 45 (56.25) 38 (84.44) 5 (11.11) 0 (0.00) 0 (0.00) 2 (4.44) 0 (0.00) 45 (100)
8 102 56 (54.90) 38 (67.86) 8 (14.29) 5 (8.93) 1 (1.79) 3 (5.36) 1 (1.79) 56 (100)
9 65 41 (63.08) 24 (58.54) 9 (21.95) 4 (9.76) 3 (7.32) 1 (2.44) 0 (0.00) 41 (100)
10 33 22 (66.67) 10 (45.45) 3 (13.64) 8 (36.36) 0 (0.00) 0 (0.00) 1 (4.55) 22 (100)
11 39 21 (53.85) 12 (57.14) 5 (23.81) 4 (19.05) 0 (0.00) 0 (0.00) 0 (0.00) 21 (100)
Fetal sex Male 379 203 (53.56) 141 (69.45) 45 (22.16) 3 (1.47) 3 (1.47) 8 (3.94) 3 (1.47) 203 (100)
Female 389 229 (58.86) 146 (63.75) 22 (9.60) 45 (19.65) 8 (3.49) 7 (3.05) 1 (0.43) 229 (100)
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