Balaguer Nuria, Mateu-Brull Emilia, Naja Roy P, Nagi Jara B, Milán Miguel
Igenomix Spain Lab S.L.U. Parque tecnológico, Ronda Narciso Monturiol, 11B. Edificios Europark, CP: 46980, Paterna, Valencia, Spain.
Igenomix UK Ltd, Surrey Technology Centre, Guildford, UK.
Mol Cytogenet. 2021 Jan 6;14(1):3. doi: 10.1186/s13039-020-00523-0.
Organ transplantations cause discrepancy in results from cell-free DNA (cfDNA) testing, but scientific literature is scarce.
A 33-year old gravida underwent cfDNA testing, which showed high levels of Y chromosome (ChrY) in the maternal bloodstream. The ChrY pattern was comparable to an adult male reference. As a result, cfDNA testing was only informative for autosomes. Routine 20-week ultrasound scan showed no structural alterations and the presence of female external genitalia. Post-clinical research revealed that the patient received a bone marrow transplant from a male donor several years before. Fluorescence in situ hybridization showed that 100% of nuclei analysed from the patient's lymphocytes presented a ChrY.
This case demonstrates ChrY can be used as a marker to avoid sex discrepancies in certain patients with organ transplants.
器官移植会导致游离DNA（cfDNA）检测结果出现差异，但相关科学文献较少。
一名33岁孕妇接受了cfDNA检测，结果显示其母血中Y染色体（ChrY）水平较高。ChrY模式与成年男性参考值相当。因此，cfDNA检测仅对常染色体有参考价值。常规20周超声扫描显示无结构异常，且存在女性外生殖器。临床研究后发现，该患者几年前接受了来自男性供体的骨髓移植。荧光原位杂交显示，从患者淋巴细胞中分析的100%细胞核都呈现出ChrY。
该病例表明，ChrY可作为一种标志物，用于避免某些器官移植患者出现性别差异。
