Pauta Montse, Martinez-Portilla Raigam J, Jara-Ettinger Ana Cecilia, Ardiles-Ruesjas Victoria, Borrell Antoni
Fetal Medicine Research Center, BCNatal. Barcelona Center for Maternal-Fetal and Neonatal Medicine (Hospital Clínic de Barcelona and Hospital Sant Joan de Deu), Barcelona, Spain.
Hospital Clínic de Barcelona, Institut Clínic de Ginecologia, Obstetricia i Neonatologia, Barcelona, Spain.
Prenat Diagn. 2025 Jul;45(8):957-967. doi: 10.1002/pd.6824. Epub 2025 May 27.
To conduct a systematic review and meta-analysis of published series examining the efficacy of genome-wide cell-free DNA (cfDNA) testing in identifying aneuploidy in pregnancies ending in miscarriage.
A systematic review was conducted encompassing observational studies evaluating aneuploidy detection by genome-wide cfDNA testing in pregnancy losses before 22 weeks of gestation. A hierarchical summary receiver operating curve was employed to assess pooled sensitivity, specificity, and area under the curve (AUC) of genome-wide cfDNA versus genetic diagnostic studies in the detection of aneuploidy. Pooled aneuploidy rate, rate of no-calls, and concordance between cfDNA and diagnostic studies were analyzed using a single proportion meta-analysis based on the inverse of the variance.
Out of 25 eligible series, eight studies were included for analysis, comprising 552 miscarriages with informative results for both cfDNA and diagnostic testing. Pooled sensitivity, specificity, and AUC were 78% (95% CI: 71%-83%), 91% (95% CI: 86%-95%), and 92%, respectively. Pooled aneuploidy rate, the proportion of no-calls, and concordance were 61% (95% CI: 53%-69%), 4% (95% CI: 0%-12%), and 84% (95% CI: 81%-87%), respectively. In cases of positive cfDNA results, the risk of aneuploidy increased to 93%, whereas negative results yielded a 28% risk of aneuploidy.
cfDNA testing demonstrates acceptable accuracy in predicting fetal aneuploidy when employed as a screening test in miscarriages. The main advantage of cfDNA testing is that it does not require the availability of products of conception or prior chorionic villi sampling.
对已发表的系列研究进行系统评价和荟萃分析，以检验全基因组游离DNA（cfDNA）检测在识别以流产告终的妊娠中染色体非整倍性方面的有效性。
进行了一项系统评价，纳入了评估在妊娠22周前流产中通过全基因组cfDNA检测进行非整倍性检测的观察性研究。采用分层汇总接受者操作特征曲线来评估全基因组cfDNA与基因诊断研究在检测非整倍性方面的合并敏感性、特异性和曲线下面积（AUC）。使用基于方差倒数的单比例荟萃分析来分析合并的非整倍性率、无结果率以及cfDNA与诊断研究之间的一致性。
在25个符合条件的系列研究中，纳入了8项研究进行分析，包括552例流产，其cfDNA和诊断检测均有可提供信息的结果。合并敏感性、特异性和AUC分别为78%（95%CI：71%-83%）、91%（95%CI：86%-95%）和92%。合并的非整倍性率、无结果比例和一致性分别为61%（95%CI：53%-69%）、4%（95%CI：0%-12%）和84%（95%CI：81%-87%）。在cfDNA结果为阳性的病例中，非整倍性风险增加到93%，而阴性结果的非整倍性风险为28%。
当cfDNA检测用作流产的筛查试验时，在预测胎儿非整倍性方面显示出可接受的准确性。cfDNA检测的主要优点是它不需要有妊娠产物或先前的绒毛取样。
