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Objective To investigate the clinical application value of chromosome karyotype combined with chromosome microarray analysis (CMA) on genetic diagnosis of embryo termination in early pregnancy. Methods The clinical information and embryo termination tissues were collected of 194 patients treated in the Prenatal Diagnosis Center of the Fourth Hospital of Shijiazhuang due to early embryo abortion from June 2019 to June 2020. Traditional chromosome karyotype analysis and CMA analysis were used for chromosome analysis of the enrolled embryos, and carry out genetic traceability test, summarize and analyze chromosome karyotype/CMA results in combination with embryo chromosome test results. Results (1) The average age of all enrolled patients was 34.1 (22-45) years, of them 120 cases (61.9%) were older than 35 years; The average gestational age was 9.75(7-14) weeks, of which 144 cases (74.2%) were with gestational age less than 10 weeks. Among 101 pregnant women (52.1%, 101/194) with adverse pregnancy and childbirth history, 79 cases (78.2%) had a history of embryo termination, and 22 cases had a history of spontaneous abortion (21.8%). (2) Among 124 cases with abnormal karyotype (63.9%, 124/194), 89 cases (71.8%)had trisomy, 15 cases (12.1%) had monosomy, 11 cases (8.9%) had triploidy, 8 cases (6.4%) had chimera, and 1 case (0.8%) had abnormal structure. (3) Among 33 cases of CMA test results, 9 cases of pathogenic, 2 cases of suspected pathogenic, 1 case of benign, and 21 cases of unknown clinical significance (VUS). The combination of CMA increased the detection rate of chromosomal variants by 4.6%. Among 124 cases of abnormal karyotype, 17 cases were associated with abnormal chromosome microstructure (3 cases were pathogenic, 1 case might be benign, and 13 cases were VUS). (4) The results of parental chromosome test showed that 4 cases of polymorphic chromosome changes and 4 cases of abnormal karyotype; Verification and comparison results in 33 couples with chromosome microstructure variation displayed that 1 case of benign and 1 case of VUS were inherited from the mother, and no chromosomal microstructural variation was detected from the other cases. Conclusion Traditional chromosome karyotype technology combined with CMA can effectively improve the detection rate of chromosome variation, and has certain reference value for guiding the future pregnancy.
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| 科 Family | 属数 Number of genus | 种数 Number of species | 占总种数比例 Percentage of total species (%) | 属 Genus | 种数 Number of species | 占总种数比例 Percentage of total species (%) |
|---|---|---|---|---|---|---|
| 鹅膏菌科Amanitaceae | 2 | 11 | 5.26 | 鹅膏菌属 Amanita | 10 | 4.78 |
| 小菇科 Mycenaceae | 2 | 12 | 5.74 | 丝盖伞属 Inocybe | 5 | 2.39 |
| 多孔菌科 Polyporaceae | 8 | 14 | 6.70 | 蜡蘑属 Laccaria | 5 | 2.39 |
| 红菇科 Russulaceae | 3 | 23 | 11.00 | 小皮伞属 Marasmius | 6 | 2.87 |
| 小菇属 Mycena | 11 | 5.26 | ||||
| 光柄菇属 Pluteus | 5 | 2.39 | ||||
| 红菇属 Russula | 17 | 8.13 | ||||
| 栓菌属 Trametes | 5 | 2.39 |
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