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Prenatal Diagnosis of Organic Acidemias at a Tertiary Center

The aim of this study was to share our experience in the prenatal diagnosis (PND) of organic acidemias (OAs) in our clinic. This study consisted of 10 cases in whom an invasive prenatal diagnostic test (IPNDT) was performed by a single physician for the PND of OAs. Median maternal age, parity, gesta...

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Autores principales: Tanacan, A, Gurbuz, BB, Aydin, E, Erden, M, Coskun, T, Beksac, MS
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sciendo 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6714333/
https://www.ncbi.nlm.nih.gov/pubmed/31523617
http://dx.doi.org/10.2478/bjmg-2019-0003
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author Tanacan, A
Gurbuz, BB
Aydin, E
Erden, M
Coskun, T
Beksac, MS
author_facet Tanacan, A
Gurbuz, BB
Aydin, E
Erden, M
Coskun, T
Beksac, MS
author_sort Tanacan, A
collection PubMed
description The aim of this study was to share our experience in the prenatal diagnosis (PND) of organic acidemias (OAs) in our clinic. This study consisted of 10 cases in whom an invasive prenatal diagnostic test (IPNDT) was performed by a single physician for the PND of OAs. Median maternal age, parity, gestational week of IPNDT, prenatal test indications, OA types, method of IPNDT, IPNDT results and gestational outcomes were evaluated. Targeted mutation analysis was performed in fetal DNA for the specific mutations by using polymerase chain reaction (PCR) and direct Sanger sequencing. The diagnosis was confirmed by genetic targeted mutation analysis after birth. Median maternal age, parity and gestational week of IPNDT values were 30 (range 21-35), one (range 0-4) and 11.5 (range 11-17), respectively. Indications for IPNDT were mother being a carrier of the disease for one case (10.0%) and at least one child with OA in the family for nine cases (90.0%). Organic acidemia types investigated were maple syrup urine disease (MSUD), methylmalonic acidemia (MMA) and isovaleric acidemia (IVA) in five (50.0%), three (30.0%) and two (20.0%) patients, respectively. Chorion villus sampling (CVS) was done in seven (70.0%) patients and amniocentesis was performed in three (30.0%) patients. Eight fetuses (80.0%) were found to be healthy and two fetuses (20.0%) were found to be affected (one case with IVA and one case with MMA). The two pregnancies (20.0%) with affected fetuses were terminated. Prenatal diagnosis of OAs is critical. Appropriate prenatal counseling should be given to families with known risk factors.
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spelling pubmed-67143332019-09-13 Prenatal Diagnosis of Organic Acidemias at a Tertiary Center Tanacan, A Gurbuz, BB Aydin, E Erden, M Coskun, T Beksac, MS Balkan J Med Genet Original Article The aim of this study was to share our experience in the prenatal diagnosis (PND) of organic acidemias (OAs) in our clinic. This study consisted of 10 cases in whom an invasive prenatal diagnostic test (IPNDT) was performed by a single physician for the PND of OAs. Median maternal age, parity, gestational week of IPNDT, prenatal test indications, OA types, method of IPNDT, IPNDT results and gestational outcomes were evaluated. Targeted mutation analysis was performed in fetal DNA for the specific mutations by using polymerase chain reaction (PCR) and direct Sanger sequencing. The diagnosis was confirmed by genetic targeted mutation analysis after birth. Median maternal age, parity and gestational week of IPNDT values were 30 (range 21-35), one (range 0-4) and 11.5 (range 11-17), respectively. Indications for IPNDT were mother being a carrier of the disease for one case (10.0%) and at least one child with OA in the family for nine cases (90.0%). Organic acidemia types investigated were maple syrup urine disease (MSUD), methylmalonic acidemia (MMA) and isovaleric acidemia (IVA) in five (50.0%), three (30.0%) and two (20.0%) patients, respectively. Chorion villus sampling (CVS) was done in seven (70.0%) patients and amniocentesis was performed in three (30.0%) patients. Eight fetuses (80.0%) were found to be healthy and two fetuses (20.0%) were found to be affected (one case with IVA and one case with MMA). The two pregnancies (20.0%) with affected fetuses were terminated. Prenatal diagnosis of OAs is critical. Appropriate prenatal counseling should be given to families with known risk factors. Sciendo 2019-08-28 /pmc/articles/PMC6714333/ /pubmed/31523617 http://dx.doi.org/10.2478/bjmg-2019-0003 Text en © 2019 Tanacan A, Gurbuz BB, Aydin E, Erden M, Coskun T, Beksac MS, published by Sciendo http://creativecommons.org/licenses/by-nc-nd/3.0 This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.
spellingShingle Original Article
Tanacan, A
Gurbuz, BB
Aydin, E
Erden, M
Coskun, T
Beksac, MS
Prenatal Diagnosis of Organic Acidemias at a Tertiary Center
title Prenatal Diagnosis of Organic Acidemias at a Tertiary Center
title_full Prenatal Diagnosis of Organic Acidemias at a Tertiary Center
title_fullStr Prenatal Diagnosis of Organic Acidemias at a Tertiary Center
title_full_unstemmed Prenatal Diagnosis of Organic Acidemias at a Tertiary Center
title_short Prenatal Diagnosis of Organic Acidemias at a Tertiary Center
title_sort prenatal diagnosis of organic acidemias at a tertiary center
topic Original Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6714333/
https://www.ncbi.nlm.nih.gov/pubmed/31523617
http://dx.doi.org/10.2478/bjmg-2019-0003
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