Fetal trunk and head volume in chromosomally abnormal fetuses at 11+0 to 13+6 weeks of gestation

O Falcon1, C F A Peralta, P Cavoretto

  • 1Harris Birthright Research Centre for Fetal Medicine, King's College Hospital Medical School, London, UK.

Insights

Three-dimensional ultrasound measurement of fetal trunk and head volume is a more sensitive indicator of early growth restriction in chromosomally abnormal fetuses than crown-rump length (CRL). This method better quantifies growth deficits in conditions like trisomy 21 and trisomy 18.

Area of Science:

  • Prenatal diagnosis and fetal medicine.
  • Medical imaging and ultrasound technology.
  • Genetics and developmental biology.

Background:

  • Early detection of fetal growth abnormalities is crucial for timely intervention.
  • Chromosomal abnormalities can significantly impact fetal development and growth patterns.
  • Crown-rump length (CRL) is a standard biometric parameter, but its sensitivity in detecting early growth deficits in chromosomally abnormal fetuses may be limited.

Purpose of the Study:

  • To investigate the growth patterns of chromosomally abnormal fetuses in early gestation (11-13 weeks).
  • To compare the utility of fetal trunk and head volume versus CRL in assessing growth deficits.
  • To determine if 3D ultrasound volume measurements offer improved detection of early growth impairment.

Main Methods:

  • Three-dimensional (3D) ultrasound was used to measure fetal trunk and head volume in 140 chromosomally abnormal fetuses.
  • Measurements were compared to those of 500 chromosomally normal fetuses of similar gestational age.
  • Growth deficit was quantified by comparing observed volumes to expected means (delta values) and expressed as a percentage. Statistical analysis used the Mann-Whitney U-test.

Main Results:

  • Fetuses with trisomy 21 and Turner syndrome showed similar CRL to controls, but 10-15% lower trunk/head volume.
  • Fetuses with trisomy 18, trisomy 13, and triploidy exhibited a significant volume deficit (approx. 45%) compared to a smaller CRL deficit (approx. 15%).
  • These findings indicate a disproportionate reduction in fetal volume relative to length in various chromosomal aneuploidies.

Conclusions:

  • Fetal trunk and head volume measurement using 3D ultrasound is a more sensitive marker for early growth impairment in chromosomally abnormal fetuses than CRL.
  • This advanced imaging technique provides a better quantification of growth deficits, aiding in the diagnosis and management of affected pregnancies.
  • 3D ultrasound volume assessment offers a valuable adjunct to traditional biometric measurements in prenatal screening for chromosomal abnormalities.
Abstract

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