BACKGROUND AND PURPOSE:

• Ramdaney et al. (Prenatal Diagnosis, 2022) evaluated the utility of first trimester ultrasound (US) between 10 and 14 weeks to identify fetal findings that would impact clinical management for women

METHODS:

• Retrospective review of patient data
• Population
  • Pregnancies with an abnormal ICD-10 codes from August 2016 to December 2018 and a first trimester US
  • ICD-10 diagnosis of maternal, fetal, or placental finding were then further reviewed 
• Study design
  • Included patients that had genetic testing and management decision data
  • Clinical characteristics: Maternal age | Maternal BMI | Gestational age at time of US | Gravidity and parity | Race/ethnicity
• Primary outcome
  • Fetal findings that would not be detected by cfDNA screening alone

RESULTS:

• 20,594 first-trimester US | 6064 unique patients
  • First trimester US with fetal findings that impacted management and testing recommendations: 4.6%
  • Percentage of findings in patients with negative aneuploidy testing or those that declined testing: 88.1%
• Most frequent fetal findings
  • Fetal demise: 35.3%
  • Increased NT/cystic hygroma: 24.1%
  • Multiple anomalies: 12.6%
• Majority of patients with fetal findings were patients who were not advanced maternal age (AMA)
  • Not AMA: 61.5%
  • AMA: 38.5%
• AMA patients were more likely to have fetal findings than non-AMA (P=0.017)
• There was no significant difference in the frequency of specific anomalies between AMA and non-AMA
  • P=0.103

CONCLUSION:

• First trimester US identified actionable clinical outcomes beyond the scope of cfDNA screening, such as structural anomalies and fetal demise
• The authors state

FT US has multiple benefits in allowing patients and providers a better understanding of what risks may exist in the pregnancy and informing potential testing strategies.

We would argue that absence of ultrasound prior to cfDNA screening has the potential to increase both financial and time costs as a direct result of unexpected abnormalities or errors, as well as cause delays to needed discussions regarding pregnancy management

Learn More – Primary Sources:

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

Related ObG Topics:

What is the Best Strategy for Fetal Aneuploidy Screening?

Can First Trimester TV Ultrasound Assessment of Previous Cesarean Scar Predict Placenta Accreta Spectrum?

Does Ultrasound Early in Pregnancy Improve Fetal Cardiac Visualization in the Setting of Obesity?

cfDNA vs. Routine Screening – How Do They Compare?

Is There a Role for NIPS In Pregnancies With Increased NT?