Document Detail

Noninvasive first-trimester screening for fetal aneuploidy.
MedLine Citation:
PMID:  9027911     Owner:  NLM     Status:  MEDLINE    
We reviewed all studies concerning noninvasive first trimester screening for fetal aneuploidy obtained from a MEDLINE search through June 1996 with additional sources identified through cross-referencing. Three screening and diagnostic modalities are of potential application in noninvasive first trimester testing for fetal aneuploidy: ultrasound, maternal biochemical markers, and analysis of fetal cells retrieved from maternal sources. Sensitivities of the sonographic finding of nuchal translucency thickness in combination with maternal age for trisomy 21, performed between 10 and 14 weeks of gestation in experienced hands, and maternal biochemical markers independently may be as high as 86 percent and 60 percent, respectively. Sensitivity, specificity, and predictive values of these diagnostic modalities alone, in combination with each other, or in conjunction with other predisposing factors such as maternal age, in large low risk populations have not currently been established. Analysis of fetal cells retrieved from maternal sources, although more complex, may offer definitive noninvasive prenatal diagnosis yet is not currently available in clinical practice. We conclude that noninvasive first trimester screening for fetal aneuploidy modalities including sonographic examination for nuchal translucency thickness and maternal biochemical markers, is feasible. Clinical feasibility; and all-encompassing clinical management paradigms of these and other early noninvasive first trimester screening methods for fetal aneuploidy, are not yet available.
D M Sherer; A T Bombard; L H Kellner; M Y Divon
Publication Detail:
Type:  Journal Article; Review    
Journal Detail:
Title:  Obstetrical & gynecological survey     Volume:  52     ISSN:  0029-7828     ISO Abbreviation:  Obstet Gynecol Surv     Publication Date:  1997 Feb 
Date Detail:
Created Date:  1997-04-17     Completed Date:  1997-04-17     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  0401007     Medline TA:  Obstet Gynecol Surv     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  123-9     Citation Subset:  IM    
Department of Obstetrics & Gynecology and Women's Health, Montefiore Medical Center, Albert Einstein College of Medicine, Bronx, NY 10461, USA.
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MeSH Terms
Biological Markers / blood*
Feasibility Studies
Fetal Diseases / blood,  diagnosis*
Genetic Testing / methods*
Pregnancy Trimester, First
Reproducibility of Results
Sensitivity and Specificity
Ultrasonography, Prenatal / methods*
Reg. No./Substance:
0/Biological Markers

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