First trimester ultrasound in the age of cell‐free DNA screening: What are we missing?. (9th April 2022)

• Record Type: Journal Article
• Authors: Ramdaney, Aarti; Mulligan, Shannon; Wittman, Theresa; Wagner, Chelsea
• Is Part Of: Prenatal diagnosis. Volume 42:Number 5(2022)
• Page Start: 542
• Page End: 548
• Publication Date: 2022-04-09
• Subjects: Prenatal diagnosis -- Periodicals; Fetus -- Diseases -- Diagnosis -- Periodicals; Electronic journals; 618.32075
• DOI: 10.1002/pd.6139
• Languages: English
• ISSNs: 0197-3851

Abstract

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. Key points: What's already known about this topic? Anomalies on ultrasound can be associated with a number of causes, including common and rare chromosomal abnormalities, genetic disorders, and multifactorial conditions. Cell‐free DNA (cfDNA) screening has been adopted by providers of AMA and non‐AMA populations and has decreased the use of first trimester ultrasound. What does this study add? In a cohort of pregnancies in AMA and non‐AMA patients undergoing a first ultrasound between 10 and 14 weeks gestation, the incidence of fetal findings was 4.6%. First trimester ultrasound prior to routine aneuploidy screening should be considered to provide an accurate risk assessment, minimize unexpected abnormalities, and avoid errors or delays in care.