Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Prenat Diagn. 2024 Oct;44(11):1318-1326. doi: 10.1002/pd.6638. Epub 2024 Jul 30.
To determine the diagnostic performance of ultrasound markers associated with life-limiting fetal skeletal dysplasia in a fortified cohort.
Retrospective review from 2013 to 2023 of pregnancies with suspected fetal skeletal dysplasia. Ultrasound evaluation included measurements predictive of a life-limiting dysplasia: thoracic circumference/abdominal circumference (TC/AC) < 0.6, femur length/abdominal circumference (FL/AC) < 0.16, and thoracic circumference (TC) < 2.5th percentile. Demographics, ultrasound findings, genetic testing, and fetal/neonatal outcome were reviewed.
Of 96 fetuses with complete outcome data, 47 (49%) had a non-life-limiting dysplasia and 49 (51%) had a life-limiting dysplasia. 22 (23%) had no life-limiting markers, 42 (44%) had one, 27 (28%) had two, and 5 (5%) had three. FL/AC < 0.16 and TC < 2.5th percentile were associated with life-limiting dysplasia (p < 0.001; p < 0.001), while TC/AC < 0.6 was rare and did not reach statistical significance (p = 0.056). The positive predictive value (PPV) for predicting life-limiting dysplasia increased from 50% to 78% to 100% with one, two, or three markers. The PPV of the two life-limiting markers was significantly higher in those diagnosed at < versus ≥ 28 weeks (90% vs. 43%, p = 0.02) but the analysis was limited by small numbers in the ≥ 28 weeks cohort. The negative predictive value of no life-limiting markers was 91%.
In our cohort, the presence of two life-limiting ultrasound markers prior to 28 weeks was highly suggestive of a life-limiting dysplasia, whereas the absence of life-limiting markers was strongly associated with a non-life-limiting dysplasia throughout gestation. Nonetheless, individual markers had a poor predictive value of lethality, and a life-limiting diagnosis ≥ 28 weeks is challenging based on ultrasound markers alone. This highlights the importance of integrating thorough sonography, genetic testing, and balanced parental counseling.
在强化队列中确定与危及生命的胎儿骨骼发育不良相关的超声标志物的诊断性能。
对 2013 年至 2023 年疑似胎儿骨骼发育不良的妊娠进行回顾性分析。超声评估包括预测危及生命的发育不良的指标：胸围/腹围（TC/AC）<0.6、股骨长/腹围（FL/AC）<0.16 和胸围（TC）<第 2.5 百分位。回顾了人口统计学、超声发现、基因检测以及胎儿/新生儿结局。
在 96 例具有完整结局数据的胎儿中，47 例（49%）为非危及生命的发育不良，49 例（51%）为危及生命的发育不良。22 例（23%）无危及生命的标志物，42 例（44%）有 1 个标志物，27 例（28%）有 2 个标志物，5 例（5%）有 3 个标志物。FL/AC<0.16 和 TC<第 2.5 百分位与危及生命的发育不良相关（p<0.001；p<0.001），而 TC/AC<0.6 很少见且无统计学意义（p=0.056）。随着一个、两个或三个标志物的出现，预测危及生命的发育不良的阳性预测值（PPV）从 50%增加到 78%到 100%。在<28 周和≥28 周诊断的患者中，两个危及生命的标志物的 PPV 显著更高（90%与 43%，p=0.02），但≥28 周组的分析受到数量较少的限制。无危及生命标志物的阴性预测值为 91%。
在我们的队列中，在 28 周之前出现两个危及生命的超声标志物高度提示存在危及生命的发育不良，而在整个妊娠过程中不存在危及生命的标志物则强烈提示存在非危及生命的发育不良。然而，个别标志物对致死性的预测价值较差，仅根据超声标志物很难在 28 周后做出危及生命的诊断。这突出了整合全面超声检查、基因检测和平衡的父母咨询的重要性。
