Document Detail

The use of second-trimester genetic sonogram in guiding clinical management of patients at increased risk for fetal trisomy 21.
MedLine Citation:
PMID:  8649704     Owner:  NLM     Status:  MEDLINE    
OBJECTIVE: To test the efficacy of ultrasound in detecting fetuses with trisomy 21. METHODS: From November 1, 1992, to December 31, 1995, a second-trimester genetic sonogram was offered to all women with singleton fetuses at increased risk (at least 1:274) for trisomy 21, who had either declined genetic amniocentesis or chose to have a sonogram before deciding whether to undergo an amniocentesis. In addition to standard fetal biometry, the following ultrasound markers for aneuploidy were evaluated: structural anomalies (including face, hands, and cardiac [four-chamber view and outflow tracts]), short femur, short humerus, pyelectasis, nuchal fold thickening, echogenic bowel, choroid plexus cysts, hypoplastic middle phalanx of the fifth digit, wide space between the first and second toes, and two-vessel umbilical cord. Outcome information included the results of genetic amniocentesis, if performed, or the results of postnatal pediatric assessment and follow-up. RESULTS: Five hundred seventy-three patients had a genetic sonogram between 15 and 23 weeks' gestation: 378 patients had advanced maternal age (at least 35 years), 141 had abnormal serum biochemistry, and 54 had both. The majority (495, or 86.3%) had a normal genetic sonogram (absence of abnormal ultrasound markers); 51 (9%) had one marker present, and 27 (4.7%) had two or more markers present. Outcome was obtained on 422 patients (the remaining were ongoing pregnancies or were lost to follow-up). Twelve of 14 fetuses with trisomy 21, one fetus with trisomy 13, and one fetus with triploidy had two or more abnormal ultrasound markers present; one fetus with trisomy 21 had one abnormal marker and one had a completely normal ultrasound. When one or more abnormal ultrasound markers were present, the sensitivity, specificity, and positive and negative predictive values for trisomy 21 were 92.8%, 86.7%, 19.4%, and 99.7%, respectively. When two or more abnormal ultrasound markers were present, the corresponding values were 85.7%, 96.8%, 48%, and 99.5%. In the study population, the amniocentesis rate was 12.7% overall and 17.3% in cases with known outcome. CONCLUSION: Second-trimester genetic sonogram may be a reasonable alternative for patients at increased risk for fetal trisomy 21 who wish to avoid amniocentesis. In experienced hands, this approach may result in a high detection rate of trisomy 21 (93%), with an amniocentesis rate of less than 20%.
A M Vintzileos; W A Campbell; J F Rodis; E R Guzman; J C Smulian; R A Knuppel
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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:  948-52     Citation Subset:  AIM; IM    
Department of Obstetrics, Gynecology, and Reproductive Sciences, University of Medicine and Dentistry of New Jersey, Robert Wood Johnson Medical School/St. Peter's Medical Center, New Brunswick, USA.
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MeSH Terms
Congenital Abnormalities / ultrasonography
Down Syndrome / ultrasonography*
Fetal Diseases / ultrasonography
Maternal Age
Predictive Value of Tests
Pregnancy Trimester, Second
Pregnancy, High-Risk
Prospective Studies
Risk Factors
Sensitivity and Specificity
Ultrasonography, Prenatal*

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