Vibrant Gene Consulting, LLC, PO BOX 390752, Cambridge, MA, 02139, USA.
DNA Diagnostics Center, Inc., One DDC Way, Fairfield, OH, 45014, USA.
J Assist Reprod Genet. 2018 Feb;35(2):345-352. doi: 10.1007/s10815-017-1064-6. Epub 2017 Oct 23.
In the fertility clinic setting, a negative DNA paternity test result usually suggests a sample mix-up likely occurred at the testing company or in the clinic. However, we report a case where, despite repeat negative paternity test results, the alleged father (referred to as "the proband") was confirmed to be the baby's father. The proband, a 34 year-old male, contacted our research group when routine blood testing revealed discrepant blood types between the parents and the baby, repeat paternity tests were negative (excluding the proband as the baby's father), and the fertility clinic found no evidence of any wrongdoing. Microarray technology was utilized to confirm biological relatedness, which revealed an avuncular (uncle/nephew) relationship. Additional tissue samples were analyzed and family studies were conducted at paternity and forensic laboratories using STR-based DNA tests to elucidate the proband's condition of congenital tetragametic chimerism. His paternity was subsequently affirmed and the fertility clinic exonerated of claims of a semen sample mix-up. This case underscores the possibility that some allegations of fertility clinic missteps may be explained by undiagnosed chimerism, a condition where an individual harbors two distinct genomes. We offer specific suggestions for improving laboratory reporting and creating clinical guidelines to aid in identifying and rectifying future cases of false exclusions of paternity due to chimerism.
在生育诊所环境中，阴性 DNA 亲子关系测试结果通常表明测试公司或诊所中可能发生了样本混淆。然而，我们报告了一个案例，尽管重复进行了阴性亲子关系测试，但被指控的父亲（称为“先证者”）被确认为婴儿的父亲。先证者是一名 34 岁男性，当常规血液检测显示父母和婴儿的血型不一致、重复的亲子关系测试结果均为阴性（排除先证者为婴儿的父亲）且生育诊所未发现任何不当行为时，他联系了我们的研究小组。微阵列技术用于确认生物学相关性，结果显示存在叔侄（叔叔/侄子）关系。在亲子鉴定和法医实验室中，使用基于 STR 的 DNA 测试分析了额外的组织样本并进行了家族研究，以阐明先证者的先天性四源嵌合体情况。随后确认了他的亲子关系，并为生育诊所对精液样本混淆的指控洗脱了罪名。该案例强调了一些生育诊所失误的指控可能归因于未确诊的嵌合体的可能性，即个体具有两个不同的基因组。我们提供了改进实验室报告和制定临床指南的具体建议，以帮助识别和纠正未来因嵌合体导致的错误排除亲子关系的案例。
