Figure 1.
Figure 2.
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) |