BACKGROUND Trisomy 8 mosaicism has a wide phenotypic variability, ranging from mild dysmorphic features to severe malformations. This report concluded a female pregnant woman with trisomy 8 mosaicism, and carefully cytogenetic diagnoses were performed to give her prenatal diagnostic information. This report also provides more knowledge about trisomy 8 mosaicism and the prenatal diagnostic for clinicians. CASE PRESENTATION In this present study, we reported one case of pregnancy woman with trisomy 8 mosaicism. Noninvasive prenatal testing prompted an abnormal Z-score, but further three dimension color ultrasound result suggested a single live fetus with no abnormality. The phenotypic of the pregnant woman was normal. Based on our results, there were no abnormal initial myeloid cells (< 10- 4), which suggested that the patient had no blood diseases. The peripheral blood karyotype of the patient was 47,XX,+ 8[67]/46,XX [13], and karyotype of amniotic fluid was 46, XX. The next generation sequencing (NGS) result suggested that the proportions of trisomy 8 in different tissues were obviously different; and 0% in amniotic fluid. Last, the chromosomes of the patient and her baby were confirmed using chromosome microarray analysis (CMA), and the results were arr[GRCh37](8) × 3,11p15.5p13(230750-33,455,733) × 2 hmz and normal. CONCLUSIONS This pregnancy woman was trisomy 8 mosaicism, but the phenotypic was normal, and also the fetus was normal. Carefully cytogenetic diagnoses should be performed for prenatal diagnose.

中文翻译：

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47，XX，+ 8 [67] / 46，XX染色体核型分析和产前诊断[13]镶嵌症：病例报告和文献复习。

背景技术三体8镶嵌症具有广泛的表型变异性，范围从轻度的畸形特征到严重的畸形。该报告总结出一位女性孕妇患有8三体性镶嵌症，并进行了仔细的细胞遗传学诊断以提供产前诊断信息。该报告还提供了有关8号三体镶嵌术和临床医生的产前诊断的更多知识。病例介绍在本研究中，我们报道了一例8三体性镶嵌症的孕妇。无创产前检查提示Z评分异常，但进一步的三维彩色超声检查结果提示单个活胎儿没有异常。孕妇的表型正常。根据我们的结果，没有异常的初始髓样细胞（<10-4），这表明该患者没有血液病。患者的外周血核型为47，XX，+ 8 [67] / 46，XX [13]，羊水的核型为46，XX。下一代测序（NGS）结果表明，三体性三体在不同组织中的比例明显不同。和0％的羊水。最后，使用染色体微阵列分析（CMA）确认了患者及其婴儿的染色体，结果为arr [GRCh37]（8）×3,11p15.5p13（230750-33,455,733）×2 hmz和正常。结论该孕妇为三体性8号嵌合体，但表型正常，胎儿也正常。产前诊断应仔细进行细胞遗传学诊断。下一代测序（NGS）结果表明，三体性三体在不同组织中的比例明显不同。和0％的羊水。最后，使用染色体微阵列分析（CMA）确认了患者及其婴儿的染色体，结果为arr [GRCh37]（8）×3,11p15.5p13（230750-33,455,733）×2 hmz和正常。结论该孕妇为三体性8号嵌合体，但表型正常，胎儿也正常。产前诊断应仔细进行细胞遗传学诊断。下一代测序（NGS）结果表明，三体性三体在不同组织中的比例明显不同。和0％的羊水。最后，使用染色体微阵列分析（CMA）确认了患者及其婴儿的染色体，结果为arr [GRCh37]（8）×3,11p15.5p13（230750-33,455,733）×2 hmz和正常。结论该孕妇为三体性8号嵌合体，但表型正常，胎儿也正常。产前诊断应仔细进行细胞遗传学诊断。结果为arr [GRCh37]（8）×3,11p15.5p13（230750-33,455,733）×2 hmz和正常。结论该孕妇为三体性8号嵌合体，但表型正常，胎儿也正常。产前诊断应仔细进行细胞遗传学诊断。结果为arr [GRCh37]（8）×3,11p15.5p13（230750-33,455,733）×2 hmz和正常。结论该孕妇为三体性8号嵌合体，但表型正常，胎儿也正常。产前诊断应仔细进行细胞遗传学诊断。