Document Detail

Fetal therapy and cytogenetic testing: prenatal detection of chromosome aberration during thoracocentesis for congenital chylothorax by karyotyping from pleural effusion fluid and review of the literature.
MedLine Citation:
PMID:  16259328     Owner:  NLM     Status:  MEDLINE    
This report serves to emphasize the necessity of rapid cytogenetic testing during fetal therapy for congenital hydrothorax and to review the literature. A 31-year-old primigravid woman was noted to have bilateral fetal hydrothorax, polyhydramnios, and preterm labor at 32 weeks' gestation. Echo-guided thoracocentesis was performed to draw 50 ml of golden/yellow pleural effusion fluid and 500 ml of amniotic fluid. Cytogenetic analysis of the lymphocytes obtained from the pleural effusion fluid revealed a karyotype of 47, XY, + 21. The pleural effusion fluid was predominantly lymphocytic and positive for the Rivalta test. A sonographic examination at 33 weeks' gestation revealed recurrent pleural effusion, but the woman refused repeat thoracocentesis and tocolytic management. A 2,568-g male baby with characteristic phenotypic findings of Down syndrome was delivered vaginally and expired after birth. The present case reinforces the notions that fetuses with congenital chylothorax are at risk for chromosomal abnormalities, and drainage of pleural effusion must include a rapid diagnosis of fetal karyotype. The cytogenetic information acquired is useful for genetic counseling and perinatal obstetric management.
C P Chen
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Review    
Journal Detail:
Title:  Genetic counseling (Geneva, Switzerland)     Volume:  16     ISSN:  1015-8146     ISO Abbreviation:  Genet. Couns.     Publication Date:  2005  
Date Detail:
Created Date:  2005-11-01     Completed Date:  2006-02-15     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  9015261     Medline TA:  Genet Couns     Country:  Switzerland    
Other Details:
Languages:  eng     Pagination:  301-5     Citation Subset:  IM    
Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan, Republic of China.
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MeSH Terms
Amniocentesis / methods*
Chromosome Aberrations*
Chylothorax / congenital*,  genetics*
Down Syndrome / genetics
Fatal Outcome
Fetal Diseases / genetics*,  therapy*
Fetal Therapies / methods*
Hydrothorax / genetics
Pleural Effusion / genetics*
Pregnancy Trimester, Second
Prenatal Diagnosis*

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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