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Trisomy 18: first-trimester nuchal translucency with pathological correlation

S Jackson1, H Porter, S Vyas

  • 1Department of Obstetrics, St. Michael's Hospital, Bristol, UK.

Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology
|January 1, 1995
PubMed
Summary

Prenatal screening identified trisomy 18 via nuchal translucency and chorionic villus sampling. Pathological examination revealed nuchal translucency is not caused by lymphatic or cardiac issues.

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Area of Science:

  • Prenatal diagnosis and genetics
  • Fetal pathology

Background:

  • Trisomy 18 diagnosis can be achieved through prenatal screening methods.
  • Nuchal translucency (NT) is an early ultrasound marker used in prenatal screening.

Observation:

  • A fetus diagnosed with trisomy 18 at 11 weeks' gestation presented with increased nuchal translucency.
  • The fetus underwent therapeutic abortion, and pathological examination was performed.

Findings:

  • The pathological examination of the fetus with trisomy 18 did not support lymphatic or cardiac origins for the observed nuchal translucency.
  • The precise etiology of nuchal translucency remains undetermined.

Implications:

  • This study contributes to understanding the potential causes of nuchal translucency.

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  • Further research is needed to elucidate the underlying mechanisms of nuchal translucency.
  • Accurate prenatal diagnosis of chromosomal abnormalities like trisomy 18 is crucial for genetic counseling.