An 8-center study to evaluate the utility of mid-term genetic sonograms among high-risk pregnancies.
J Ultrasound Med
; 22(1): 33-8, 2003 Jan.
Article
in En
| MEDLINE
| ID: mdl-12523608
ABSTRACT
OBJECTIVE:
A multicenter study was undertaken to evaluate the diagnostic efficacy of a genetic sonogram.METHODS:
Eight centers provided data on 176 pregnancies complicated by fetal Down syndrome. One hundred thirty-four pregnancies were considered high risk because of advanced maternal age (> 35 years), and 42 were considered high risk for having "abnormal" triple-screen results (risk > 1250). Each center provided fetal biometric data, information regarding the presence or absence of major structural abnormalities, and between 3 and 6 additional ultrasonographic markers for trisomy 21. The heterogeneity of our 8 independent "sensitivity estimates" was evaluated by Poisson regression, and a single combined estimate of the sensitivity was calculated.RESULTS:
Of the total 176 cases of trisomy 21, 125 fetuses (71.0%) had either an abnormal long bone length (femur length, humerus length, or both), a major structural abnormality, or a Down syndrome marker. The combined diagnostic sensitivity was 71.6%, with a range of 63.6% (7 of 11) to 80% (8 of 10). Five centers had sensitivity estimates falling between 64% and 76%. The sensitivity of individual markers varied between 3% (sandal gap) and 46.5% (nuchal skin fold thickness). A condensed regimen of nuchal skin fold thickness, femur length, and a standard anatomic survey would screen in 56.8% of fetuses with Down syndrome.CONCLUSIONS:
This 8-center study that included many fetuses with Down syndrome validates the concept that the genetic sonogram can be used to better adjust the Down syndrome risk for high-risk patients.
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Ultrasonography, Prenatal
/
Down Syndrome
/
Pregnancy, High-Risk
Type of study:
Clinical_trials
/
Diagnostic_studies
/
Etiology_studies
/
Risk_factors_studies
Limits:
Female
/
Humans
/
Pregnancy
Language:
En
Journal:
J Ultrasound Med
Year:
2003
Document type:
Article
Affiliation country:
United States