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Diagnostic approach to fetal microcephaly.

Zvi Leibovitz1, Tally Lerman-Sagie2

  • 1Obstetrics-Gynecology Ultrasound Unit, Bnai-Zion Medical Center and Rappaport Faculty of Medicine, The Technion, Haifa, Israel; Fetal Neurology Clinic, Obstetrics-Gynecology Ultrasound Unit, Department of Obstetrics and Gynecology, Wolfson Medical Center, Holon and Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel.

European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|July 5, 2018
PubMed
Summary

Accurate prenatal diagnosis of microcephaly (micB) is challenging. Integrating additional fetal parameters and using foramen magnum-to-cranium distance (FCD) criteria can improve prediction accuracy, though diagnosing fetal microcephaly remains difficult.

Keywords:
Fetal microcephalyHead circumferencePrenatal diagnosis

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Area of Science:

  • Prenatal diagnosis
  • Fetal medicine
  • Medical imaging

Background:

  • Conventional prenatal microcephaly diagnosis relies on fetal head circumference (HC) 3 standard deviations below the mean.
  • This method often leads to high false positive rates, potentially resulting in unnecessary pregnancy terminations.
  • False negatives, though rarer, can lead to the birth of symptomatic microcephalic infants.

Purpose of the Study:

  • To improve the accuracy of prenatal microcephaly detection.
  • To evaluate new reference ranges and additional parameters for better prediction.
  • To differentiate true microcephaly from conditions with small head size due to deformities.

Main Methods:

  • Applied new reference ranges for fetal HC and assessed their impact.
  • Integrated additional parameters: stricter HC cut-offs, small-for-gestational age (SGA), HC/abdominal circumference and HC/femur length ratios, malformations, and family history.
  • Utilized foramen magnum-to-cranium distance (FCD) measurements to identify head deformities.

Main Results:

  • Conventional and new HC reference ranges resulted in significant over-diagnosis (33-43%).
  • Integrating additional parameters improved positive predictive value (PPV) but increased false negatives.
  • Combining fetal HC with FCD criteria raised the PPV of microcephaly at birth (micB) to 78%.

Conclusions:

  • Prenatal microcephaly prediction can be enhanced by incorporating additional parameters and FCD criteria.
  • Accurate diagnosis of fetal microcephaly remains a challenge.
  • An algorithm for evaluating fetal microcephaly has been developed.