Have a personal or library account? Click to login
Prenatal diagnosis of organic acidemias at a tertiary center Cover

Prenatal diagnosis of organic acidemias at a tertiary center

By: A Tanacan,  BB Gurbuz,  E Aydin,  M Erden,  T Coskun and  MS Beksac  
Open Access
|Aug 2019

Figures & Tables

Demographic features and clinical characteristic of the cases_

Maternal age (median, range)30 (21-35)
Parity (median, range)1 (0.4)
Gestational week of invasive prenatal diagnostic test (median, range)11.5(11.0-17.0)
Invasive prenatal diagnostic test indications (n %):
mothers being carriers of the disease1 (10.0)
at least one child with organic acidemia in their families9 (90.0)
Organic acidemia types (n, %):
maple syrup urine disease5 (50.0)
methylmalonic acidemia3 (30.0)
isovaleric acidemia2 (20.0)
Method of invasive prenatal diagnostic test (n, %):
chorionic villi sampling7 (70.0)
amniocentesis3 (30.0)
Invasive prenatal diagnostic test results (n, %):
healthy8 (80.0)
disease positive2 (20.0)
Gestational outcome:
termination of pregnancya2 (20.0)
continuation of pregnancy8 (80.0)
Language: English
Page range: 29 - 34
Published on: Aug 28, 2019
Published by: Macedonian Academy of Sciences and Arts
In partnership with: Paradigm Publishing Services
Publication frequency: 2 issues per year

© 2019 A Tanacan, BB Gurbuz, E Aydin, M Erden, T Coskun, MS Beksac, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.