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Journal of Ultrasound in Medicine, Vol 20, Issue 6 639-644, Copyright © 2001 by American Institute of Ultrasound in Medicine
Normal midtrimester (17-20 weeks) genetic sonogram decreases amniocentesis rate in a high-risk population
M. G. Pinette, J. Garrett, A. Salvo, J. Blackstone, S. G. Pinette, N. Boutin and A. Cartin
Department of Obstetrics and Gynecology, Maine Medical Center, Portland 04102, USA.
OBJECTIVE: To evaluate a screening protocol using advanced maternal age,
triple-marker screening, and genetic sonography. METHODS: We compared
adverse chromosomal outcomes of pregnancy in 1556 women referred for
increased risk of aneuploidy because of either advanced maternal age or
triple-marker test results. Patients were counseled about the results of
the triple-marker test and subsequent sonography, which led to a patient
decision of whether to pursue amniocentesis. Fetal measurements and
structural abnormalities were compared with chromosomal findings. When
patients elected amniocentesis, karyotypes were obtained. RESULTS: Genetic
sonography reduced the rate of amniocentesis by 61% overall and by 40% when
compared with an alpha-fetoprotein profile alone. The sensitivity of
sonography combined with the triple-marker screen for the detection of
trisomy 21 was 87% compared with 91% for the triple-marker screen alone.
CONCLUSIONS: This study confirmed that sonographic findings in a targeted
population, in combination with other risk markers (advanced maternal age
and triple-marker screening), can be used to assess the risk of aneuploidy.
Biometry provides additional information for assessing the risk of
aneuploidy. Combining advanced maternal age, serum triple-marker screening,
and sonographic screening may provide better risk prediction for use in
clinical counseling.
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