Table 1.
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) | / | |
[i] MA, mean age; SD, standard deviation; ND, no data
Figure 1.
Distribution of chromosomal trisomies in EPLs as a percentage of all detected trisomies (n=286).
Table 2.
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) |
Figure 2.
Multiple aneuploidies, partial chromosomal abnormalities, aneuploidies accompanied by partial abnormality detected among the studied EPLs.
Table 3.
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 |
Table 4.
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 | |
Table 5.
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 |