Soster Erica, Dyr Brittany, Caldwell Samantha, Moore Savannah, Almasri Eyad, Magharyous Hany, Saldivar Juan-Sebastian, Cacheris Phillip
Labcorp, San Diego, California, USA.
Wake Forest University, Winston-Salem, North Carolina, USA.
Prenat Diagn. 2025 Jun;45(6):705-712. doi: 10.1002/pd.6812. Epub 2025 May 8.
Prenatal cfDNA screening is the most sensitive and specific screen for common aneuploidies in singleton and twin pregnancies and has been endorsed by several professional societies as a first-tier screen or contingent screen. However, data for triplet pregnancies is lacking, as these pregnancies are relatively uncommon and obtaining sufficient data for a robust analysis of test performance is challenging.
This study presents a retrospective review of over 1500 samples from triplet pregnancies screened via cfDNA for common aneuploidies.
Mean patient age was 34 years, while mean gestational age was 13 weeks. The most common indication for testing was patient age, representing > 60% of the cohort. There were 13 screen-positive cases (1.01%), 270 NR cases (17.32%), and the remainder were screen-negative. Complete or partial genetic and/or obstetric outcome information (including birth and neonatal outcomes) was available for 147 samples, including all 13 positive cfDNA samples. No false positive or false negative cases were identified.
The data from this study support the notion that cfDNA screening in triplet pregnancies is a reasonable approach given the lack of alternative screening options for these patients and that the performance likely approaches that of twin pregnancies, albeit with a higher no-call rate.
产前cfDNA筛查是单胎和双胎妊娠常见非整倍体最敏感和特异的筛查方法，已得到多个专业学会认可，可作为一线筛查或补充筛查。然而，关于三胎妊娠的数据却很缺乏，因为这类妊娠相对少见，要获得足够数据以对检测性能进行有力分析具有挑战性。
本研究对1500多例通过cfDNA筛查三胎妊娠常见非整倍体的样本进行回顾性分析。
患者平均年龄为34岁，平均孕周为13周。最常见的检测指征是患者年龄，占队列的60%以上。有13例筛查阳性病例（1.01%），270例无结果病例（17.32%），其余为筛查阴性。包括所有13例cfDNA阳性样本在内，147个样本可获得完整或部分遗传和/或产科结局信息（包括出生和新生儿结局）。未发现假阳性或假阴性病例。
本研究数据支持这样一种观点，鉴于这些患者缺乏其他筛查选择，三胎妊娠的cfDNA筛查是一种合理的方法，而且其检测性能可能接近双胎妊娠，尽管无结果率较高。
