Prenatal diagnosis of organic acidemias at a tertiary center
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28. Aug. 2019
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Artikel-Kategorie: Original Article
Online veröffentlicht: 28. Aug. 2019
Seitenbereich: 29 - 34
DOI: https://doi.org/10.2478/bjmg-2019-0003
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© 2019 Tanacan A, Gurbuz BB, Aydin E, Erden M, Coskun T, Beksac MS, published by Sciendo
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.
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 | |
| mothers being carriers of the disease | 1 (10.0) |
| at least one child with organic acidemia in their families | 9 (90.0) |
| Organic acidemia types ( | |
| maple syrup urine disease | 5 (50.0) |
| methylmalonic acidemia | 3 (30.0) |
| isovaleric acidemia | 2 (20.0) |
| Method of invasive prenatal diagnostic test ( | |
| chorionic villi sampling | 7 (70.0) |
| amniocentesis | 3 (30.0) |
| Invasive prenatal diagnostic test results ( | |
| healthy | 8 (80.0) |
| disease positive | 2 (20.0) |
| Gestational outcome: | |
| termination of pregnancya | 2 (20.0) |
| continuation of pregnancy | 8 (80.0) |