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An 8‐Center Study to Evaluate the Utility of Midterm Genetic Sonograms Among High‐Risk Pregnancies
Author(s) -
Hobbins John C.,
Lezotte Dennis C.,
Persutte Wayne H.,
DeVore Greggory R.,
Benacerraf Beryl R.,
Nyberg David A.,
Vintzileos Anthony M.,
Platt Lawrence D.,
Carlson Dru E.,
Bahado-Singh Raymond O.,
Abuhamad Alfred Z.
Publication year - 2003
Publication title -
journal of ultrasound in medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.574
H-Index - 91
eISSN - 1550-9613
pISSN - 0278-4297
DOI - 10.7863/jum.2003.22.1.33
Subject(s) - medicine , center (category theory) , obstetrics , risk assessment , gynecology , chemistry , computer security , computer science , crystallography
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 >1:250). 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.