Document Detail

Trisomy 16 mosaicism in amniotic fluid cell cultures.
MedLine Citation:
PMID:  8878286     Owner:  NLM     Status:  MEDLINE    
Trisomy 16 mosaicism was found in amniotic fluid cells in a patient undergoing amniocentesis because of elevated second-trimester maternal serum alpha-fetoprotein (MSAFP) (2.80 MOM), a markedly elevated human chorionic gonadotropin level (hCG) (12.02 MOM), and a Down syndrome risk of 1:55. Ultrasound evaluation of the fetus indicated the presence of an atrial septal defect and clinodactyly. Cytogenetic analyses of various fetal tissues using fluorescence in situ hybridization (FISH) failed to detect substantial numbers of trisomy 16 cells; however, trisomy 16 mosaicism was identified in placental tissue. Molecular genetic analysis at five different loci [four analysed by polymerase chain reaction (PCR) and one by Southern blot analysis] failed to show any evidence for uniparental disomy. Although trisomy 16 cells could not be clearly demonstrated in the fetus, the presence of a clinically significant proportion of aneuploid cells early in development could not be excluded and it therefore cannot be assumed that a 'confined placental mosaicism' existed. The markedly elevated hCG and elevated MSAFP levels are consistent with abnormal placental function in trisomy 16 mosaicism. Serial ultrasound evaluation (to detect any late-onset growth retardation) and fetal echocardiography may be indicated for patients with extraordinarily high levels of hCG, especially if MSAFP is also elevated.
U Tantravahi; C Matsumoto; J Delach; A Craffey; J Smeltzer; P Benn
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Prenatal diagnosis     Volume:  16     ISSN:  0197-3851     ISO Abbreviation:  Prenat. Diagn.     Publication Date:  1996 Aug 
Date Detail:
Created Date:  1997-01-17     Completed Date:  1997-01-17     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  8106540     Medline TA:  Prenat Diagn     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  749-54     Citation Subset:  IM    
Department of Pathology, Women and Infants Hospital, Brown University, Providence, RI, USA.
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MeSH Terms
Amniotic Fluid / cytology*
Cells, Cultured
Chorionic Gonadotropin / blood
Chromosomes, Human, Pair 16*
Estriol / blood
Fetal Diseases / ultrasonography
Heart Septal Defects, Atrial / ultrasonography
In Situ Hybridization, Fluorescence
Placenta / ultrastructure
Polymerase Chain Reaction
Ultrasonography, Prenatal
alpha-Fetoproteins / analysis
Reg. No./Substance:
0/Chorionic Gonadotropin; 0/alpha-Fetoproteins; 50-27-1/Estriol

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