Document Detail

Ultrasound screening for fetal chromosome anomalies.
MedLine Citation:
PMID:  10607945     Owner:  NLM     Status:  MEDLINE    
Ultrasound evidence for aneuploidy may be found in almost every organ of the fetus and can be used to modify the risk of aneuploidy. The diagnosis of these minor anomalies on second-trimester ultrasonography will increase the risk of an abnormal karyotype whereas the absence of these findings may reduce this danger. The most specific and most ominous isolated markers for fetal aneuploidy are nuchal findings (edema or cysts), indicating the need to obtain a fetal karyotype in all cases irrespective of maternal age or results of biochemical serum screening. Hyperechoic fetal bowel is apparently also a strong indicator of fetal aneuploidy. Other isolated sonographic markers may increase the risk of an abnormal karyotype three- to ninefold. Most sonographic markers for aneuploidy specify an increased risk for Down syndrome, but choroid plexus cysts are apparently more specific for trisomy 18. Along with other screening methods, ultrasound screening for fetal aneuploidy should be used routinely to identify additional pregnancies at need for evaluation of fetal karyotype.
A Drugan; M P Johnson; M I Evans
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Publication Detail:
Type:  Journal Article; Review    
Journal Detail:
Title:  American journal of medical genetics     Volume:  90     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  2000 Jan 
Date Detail:
Created Date:  2000-03-15     Completed Date:  2000-03-15     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  98-107     Citation Subset:  IM    
Copyright Information:
Copyright 2000 Wiley-Liss, Inc.
Department of Obstetrics and Gynecology, Rambam Medical Center, Haifa, Israel.
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MeSH Terms
Chromosome Aberrations / embryology,  genetics,  ultrasonography*
Chromosome Disorders
Fetus / abnormalities
Prenatal Diagnosis*

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