Early Diagnosis and Differences in Progression of Fetal Encephalocele

Alston G.J. Ong, Daniel L. Rolnik, Melody Menezes, Simon Meagher

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2 Citations (Scopus)


In this case series, we present 3 cases of very early prenatal diagnosis of encephalocele that, despite similar appearances at diagnosis, had different disease progressions. Two of the cases were carried to term, whereas 1 resulted in a termination of pregnancy. The diagnoses were made via ultrasound examinations before cell-free DNA testing for chromosomal abnormality screening at 10 weeks' gestation, thereby highlighting the importance of performing a routine ultrasound examination before cell-free DNA testing antenatally.

Original languageEnglish
Pages (from-to)1435-1440
Number of pages6
JournalJournal of Ultrasound in Medicine
Issue number7
Publication statusPublished - Jul 2020


  • cell-free DNA
  • early pregnancy
  • encephalocele
  • fetal abnormality
  • ultrasound

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