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Related Experiment Videos

Trisomy 16 confined to the placenta.

J G Post1, J G Nijhuis

  • 1Department of Human Genetics, University Hospital, Nijmegen, The Netherlands.

Prenatal Diagnosis
|December 1, 1992
PubMed
Summary

Confined placental trisomy 16 can cause fetal growth issues. While rare, a trisomy 16 diagnosis in placental tissue warrants further investigation for fetal chromosomal abnormalities.

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Area of Science:

  • Perinatology
  • Clinical Genetics
  • Reproductive Medicine

Background:

  • Prenatal diagnosis is crucial for identifying fetal growth retardation.
  • Trisomy 16 confined to the placenta presents diagnostic challenges.
  • Understanding placental abnormalities is key to fetal development.

Observation:

  • Two cases of trisomy 16 confined to the placenta were observed.
  • Fetal growth retardation was the indication for prenatal diagnosis in both cases.
  • Case 1 resulted in a small-for-date infant; Case 2 revealed triploidy via cordocentesis.

Findings:

  • Trisomy 16 was consistently recovered from placental tissue in both cases.
  • Confined placental trisomy 16 is linked to intrauterine growth retardation when present in direct preparation and villus culture.
  • Discrepancies between placental and fetal karyotypes challenge current models, suggesting potential explanations like vanishing twins.

Implications:

  • Confined placental trisomy 16 can be a direct cause of fetal growth retardation.
  • The risk of a chromosomally abnormal fetus (e.g., mosaic trisomy 16, triploidy) is low but significant following placental trisomy 16 diagnosis.
  • Further investigation is warranted to clarify fetal status in cases of placental trisomy 16.

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