The importance of ultrasound preceding cell-free DNA screening for fetal chromosomal abnormalities

Imogen Brown, Shavi Fernando, Melody Menezes, Fabricio da Silva Costa, Jayshree Ramkrishna, Simon Meagher, Daniel L. Rolnik

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11 Citations (Scopus)


Objective: This study aims to determine the incidence of ultrasound findings that may change clinical management on the day of blood-sampling for cell-free DNA (cfDNA) screening. Methods: A retrospective study was conducted at a tertiary provider of obstetric and gynecological ultrasound in Melbourne, Australia. Individual patient files were reviewed and results were collated for maternal characteristics, pre-cfDNA ultrasound reports, results and test characteristics of both cfDNA and diagnostic testing, and genetic counselling notes. The primary outcome was a potential change in patient management due to findings detected on the pre-cfDNA ultrasound. Results: Of 6250 pre-cfDNA ultrasounds, 6207 were included in analysis. Of these, 598 (9.6%) pregnancies had a finding on pre-cfDNA ultrasound that had the potential to change management. The reasons for this potential change in management were detection of gestational age below 10 weeks (245, 3.9%), miscarriage (175, 2.8%), demised twin (43, 0.7%), fetal edema (115, 1.9%) and major structural abnormalities (20, 0.3%). These findings were more common in patients of advanced maternal age and in spontaneous conceptions. Conclusions: An ultrasound prior to cfDNA screening has the potential to change clinical management in almost one in 10 women. The proportion is higher in older age groups and lower in IVF-conceived pregnancies.

Original languageEnglish
Pages (from-to)1439-1446
Number of pages8
JournalPrenatal Diagnosis
Issue number11
Publication statusPublished - 1 Oct 2020

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