Document Detail


Maternal serum screening in cases of mosaic and translocation Down syndrome.
MedLine Citation:
PMID:  18615544     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
OBJECTIVES: To determine if the second-trimester maternal serum markers (MSM) screening for Down syndrome (DS) is efficient in DS mosaicism or structural rearrangement cases. METHOD: DS mosaic or translocation cases were reviewed from databases of routine MSM DS screening. The control group consisted of 977 trisomy 21 cases included in a series of 854 902 patients (routine screening). DS risk was calculated by combination of maternal age and MSM [alpha-fetoprotein (AFP) and human choriogonadotrophin (hCG) or free beta-hCG and/or uE3] expressed in multiples of median (MoM). Mosaic DS cases were divided into three groups, < 10%, 10-49%, and >or= 50% trisomy 21 cells. Translocation DS cases were divided into three groups, isochromosome, Robertsonian, or reciprocal translocation. Detection rate (DR) and MoMs were evaluated in each group. RESULTS: As many as 76 cases of nonstandard trisomy 21 were collected. For mosaic DS cases (n = 43) DR was 69.8% (not significantly different from the 70.8% of control group). When mosaicism was less than 10%, the DR dropped to 25%. For translocation DS cases (n = 33) DR was 75.7% (not significantly different from control group) whatever the types of translocation. CONCLUSION: In the nonstandard DS cases, second-trimester MSMs gave the same detection rate as for standard trisomy 21, except the cases with low-level mosaicism (<10%).
Authors:
Sophie Dreux; Camille Olivier; Jean-Michel Dupont; Nathalie Leporrier; ; Jean-François Oury; Françoise Muller
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Publication Detail:
Type:  Journal Article; Multicenter Study    
Journal Detail:
Title:  Prenatal diagnosis     Volume:  28     ISSN:  0197-3851     ISO Abbreviation:  Prenat. Diagn.     Publication Date:  2008 Aug 
Date Detail:
Created Date:  2008-07-31     Completed Date:  2008-10-02     Revised Date:  2009-05-18    
Medline Journal Info:
Nlm Unique ID:  8106540     Medline TA:  Prenat Diagn     Country:  England    
Other Details:
Languages:  eng     Pagination:  699-703     Citation Subset:  IM    
Copyright Information:
Copyright (c) 2008 John Wiley & Sons, Ltd.
Affiliation:
Biochimie-Hormonologie, Hôpital Robert Debré, AP-HP, Paris.
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MeSH Terms
Descriptor/Qualifier:
Adult
Biological Markers / blood
Down Syndrome / blood*,  classification,  diagnosis
Female
Humans
Mass Screening*
Mosaicism*
Pregnancy
Retrospective Studies
Translocation, Genetic*
Chemical
Reg. No./Substance:
0/Biological Markers
Investigator
Investigator/Affiliation:
C Lemay / ; A Liquier / ; E Ruedas / ; J Souby / ; M P Moineau / ; J P Codet / ; J Lespinasse / ; P Vago / ; M F Frigère / ; S Ewing / ; M Guiguet / ; C Finot / ; M H Ramaorasy / ; S Séréro / ; P Clément / ; L Lohman / ; M Mintz / ; D Martin / ; G Renom / ; J M Perini / ; B Delobel / ; C Yardin / ; C Boisson / ; F Poloce / ; C Sault / ; M E Larcher / ; M Wasel / ; M Cabrol / ; G Quenum-Miraillet / ; N Morichon / ; M Bernard / ; B Le Fiblec / ; P Guiardiola / ; P Antoine / ; G Belot / ; G Coumaros / ; C Koehl / ; L Lehr / ; J F Rousselle / ; P Demas / ; F Fortenfant / ; A Blancher / ; G Bourrouillou / ; D Dudragne / ; B Cara / ; D Galliano / ; B Simon-Bouy /

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


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