First trimester ultrasound in the age of cell-free DNA screening: What are we missing?

ABSTRACT

OBJECTIVES: To evaluate the utility of first trimester (FT) ultrasound (US) between 10 and 14 weeks gestation in identifying fetal findings that would impact clinical management. METHODS: We performed a retrospective review of FT US associated with an abnormal ICD-10 code from August 2016 to December 2018. Results of FT US, genetic testing, and management decisions were abstracted from the electronic health record. RESULTS: A total of 20,594 FT US were performed within our study period, representing 6064 unique patients. Of these, 278 ultrasounds were noted to have fetal findings (278/6064, 4.6%). The most frequent fetal findings were fetal demises (98/278, 35.3%), followed by increased NT/cystic hygroma (67/278, 24.1%), and multiple anomalies (35/278, 12.6%). There was a significant difference between the frequency of fetal findings between patients considered advanced maternal age (AMA) and those who were not (p = 0.017). However, there was no significant difference in the frequency of specific anomalies between these two groups (p = 0.103). CONCLUSION: FT US provides clinical information outside the scope of cfDNA screening in both AMA and non-AMA populations regarding viability and fetal anatomy. Earlier detection of these findings is crucial to allow for the opportunity of informed discussion of testing strategy and decision making.