Document Detail

Adjusting the risk for trisomy 21 by a simple ultrasound method using fetal long-bone biometry.
MedLine Citation:
PMID:  8649705     Owner:  NLM     Status:  MEDLINE    
OBJECTIVE: To establish the efficacy of second-trimester fetal long-bone biometry (femur, humerus, tibia, and fibula length) in detecting trisomy 21 and to generate tables for adjusting the risk of trisomy 21 according to long-bone biometry. METHODS: Four long-bones--femur, humerus, tibia, and fibula--were measured ultrasonically in singleton fetuses before genetic amniocentesis. Fetuses with normal karyotypes were used to derive regression equations describing predicted lengths on the basis of the biparietal diameter measurement. The efficacy of each abnormally short bone, alone and in combination, was determined in 22 fetuses with trisomy 21 encountered during the study period. After the sensitivity and specificity of long-bone biometry were established, appropriate tables were generated by Bayes' theorem to adjust the risk of trisomy 21 in the second trimester depending on long-bone biometry. RESULTS: Of 515 patients between 14 and 23 weeks' gestation, 493 had normal fetal karyotypes and 22 had trisomy 21. The sensitivity of an abnormal ultrasound, as defined by the presence of one or more short bones, was 63.6% and the specificity was 78.5%. According to Bayes' theorem, genetic amniocentesis may not be recommended for women less than 40 years old in the presence of normal long-bone biometry (ie, all four bones normal). CONCLUSION: Second-trimester fetal long-bone biometry is useful in detecting trisomy 21 and may be used to adjust the a priori risk of both high- and low-risk women for trisomy 21 and, therefore, the need for genetic amniocentesis.
A M Vintzileos; J F Egan; J C Smulian; W A Campbell; E R Guzman; J F Rodis
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Obstetrics and gynecology     Volume:  87     ISSN:  0029-7844     ISO Abbreviation:  Obstet Gynecol     Publication Date:  1996 Jun 
Date Detail:
Created Date:  1996-07-19     Completed Date:  1996-07-19     Revised Date:  2009-10-26    
Medline Journal Info:
Nlm Unique ID:  0401101     Medline TA:  Obstet Gynecol     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  953-8     Citation Subset:  AIM; IM    
Department of Obstetrics, Gynecology, and Reproductive Sciences, Robert Wood Johnson Medical School/St. Peter's Medical Center, University of Medicine and Dentistry of New Jersey, New Brunswick, USA.
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MeSH Terms
Bone and Bones / embryology,  ultrasonography*
Down Syndrome / ultrasonography*
Femur / embryology,  ultrasonography
Fibula / embryology,  ultrasonography
Humerus / embryology,  ultrasonography
Predictive Value of Tests
Pregnancy Trimester, Second
Prenatal Diagnosis
Prospective Studies
Sensitivity and Specificity
Tibia / embryology,  ultrasonography
Ultrasonography, Prenatal / methods*

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