腔穿刺用于罕见单基因病产前诊断：876例开发、验证与临床结局
中位穿刺孕周8.4周，羊膜腔液抽吸成功875/876例（99.9%）。优化流程后685例中671例（98%）成功完成分子分析，所有病例分类正确，灵敏度与特异度均为100%。
要点
- 腔穿刺在孕7-9周可获取胎儿DNA用于单基因病产前诊断。
- 优化分子流程后分析成功率达98%（671/685）。
- 结果与流产组织、羊水或产后血验证一致，灵敏度与特异度均100%。
核心结论
- 腔穿刺可作为单基因病可靠的早期产前诊断方法，是绒毛取样和羊膜腔穿刺的可行替代方案，可在更早孕周进行侵入性产前诊断。
主要发现
- 中位穿刺孕周8.4周，羊膜腔液抽吸成功875/876例（99.9%）。
- 母源细胞污染（MCC）见于98.74%样本，初始190例中19例（10%）不适合分子分析。
- 优化分子流程后685例中671例成功（98%），所有病例经流产组织、羊水或产后血验证分类正确，灵敏度与特异度均100%。
关键数值与推荐
- 羊膜腔液抽吸成功率99.9%（875/876）。
- 优化流程后分子分析成功率98%（671/685）。
- 验证结果分类正确率100%，灵敏度100%，特异度100%。
临床怎么用
- 对于有单基因病风险的妊娠，可在孕7-9周考虑腔穿刺进行早期产前诊断。
- 需采用优化分子流程以降低母源细胞污染导致的分析失败风险。
局限性
- 单中心回顾性研究，初始流程下10%（19/190）样本不适合分子分析。
以上解读依据论文摘要（全文未开放获取或许可不允许翻译转载）。
原文
OBJECTIVE: To report on the development, validation, and clinical outcomes of 876 consecutive cases of prenatal diagnosis of rare monogenic diseases using celocentesis. METHODS: This retrospective single-center study, conducted between April 2006 and December 2025, evaluated celomic fluid collected at 7-9 weeks of gestation from women at risk of carrying fetuses with monogenic diseases. Fetal DNA was obtained by isolating embryo-fetal erythroid precursors. All samples were assessed for the presence of parental molecular defects and maternal cell contamination (MCC). RESULTS: The median gestational age at the time of celocentesis was 8.4 weeks. Successful aspiration of celomic fluid was achieved in 875/876 cases (99.9%). Although MCC was observed in 98.74% of the samples, an initial subset of 19/190 (10%) was found unsuitable for molecular analysis. Subsequently, an optimized molecular workflow was successfully applied to the remaining cohort, achieving a success rate of 98% (671/685 procedures). Results were validated against confirmatory samples from abortive tissue (following VIP), amniotic fluid, or postnatal blood. All cases were correctly classified, demonstrating 100% sensitivity and specificity. CONCLUSION: This study supports the clinical application of celocentesis as a reliable early prenatal diagnostic procedure for monogenic diseases. It represents a viable alternative to Chorionic Villus Sampling (CVS) and amniocentesis, enabling invasive prenatal diagnosis at a significantly earlier stage of pregnancy.
引用
- Giambona A, Makrydimas G, Maggio A, et al. Celocentesis for Prenatal Diagnosis of Rare Monogenic Diseases: Development, Validation, and Clinical Outcome on 876 Cases. Prenat Diagn. 2026. PMID: 42175792. doi:10.1002/pd.70184
供执业医师工作参考，不替代临床判断；数值与分级以指南原文为准。