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[Partial 12q trisomy and chylothorax]

V Houfflin1, P Dufour, D Vinatier

  • 1Service de Gynécologie-Obstétrique, CHRU de Lille.

Journal De Gynecologie, Obstetrique Et Biologie De La Reproduction
|January 1, 1993
PubMed
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Partial trisomy 12q, a rare genetic condition, can lead to fetal hydrothorax (chylothorax). This case highlights the challenges in managing this condition during pregnancy and its severe outcomes.

Area of Science:

  • Medical Genetics
  • Prenatal Diagnosis
  • Fetal Medicine

Background:

  • Partial trisomy 12q is a chromosomal abnormality with variable clinical manifestations.
  • Fetal hydrothorax, particularly chylothorax, can be a serious complication during pregnancy.

Observation:

  • A case of partial trisomy 12q diagnosed at 30 weeks gestation via cordocentesis, complicated by fetal chylothorax.
  • The fetus presented with multiple abnormalities and died within 7 days of birth despite medical interventions.
  • Six additional cases of partial trisomy 12q with hydrothorax were identified in the literature.

Findings:

  • Prenatal diagnosis of partial trisomy 12q and associated chylothorax is possible through genetic analysis and ultrasound.
  • Management strategies for fetal hydrothorax diagnosed prenatally require careful consideration.

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Implications:

  • This case underscores the importance of early diagnosis and genetic counseling for trisomy 12q.
  • Further research into optimal prenatal management of fetal hydrothorax associated with chromosomal abnormalities is warranted.