
This study aimed to determine the residual risk of morbidity-related outcomes in fetuses with a nuchal translucency (NT) measurement of 3.5 mm or greater after normal genetic testing and a mid-trimester anomaly scan. The research included 114 fetuses with isolated NT measurements of 3.5 mm or greater, normal karyotype, and array-based comparative genomic hybridization. The fetuses were divided into three groups based on NT size. All fetuses underwent RASopathy testing and ultrasound follow-up. The study found that after normal genetic testing, the residual risk of morbidity-related outcome was 24.64% for NT 3.5-4.5 mm, 25% for NT 4.5-6 mm, and 76.47% for NT greater than 6 mm. However, after normal RASopathy testing and mid-trimester anomaly scan, the residual risks decreased to 7.14%, 8.69%, and 33.3% in the respective groups. The study concluded that while normal RASopathy testing and mid-trimester ultrasound can provide reassurance, the risk of morbidity-related outcome is still elevated compared to the general population, particularly when the NT measurement is greater than 6 mm.
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