PRENATAL DIAGNOSIS OF ORGANIC ACIDEMIAS
AT A TERTIARY CENTER
Tanacan A1,*, Gurbuz BB2, Aydin E1, Erden M1, Coskun T2, Beksac MS1
*Corresponding Author: Dr. Atakan Tanacan, Department of Obstetrics and Gynecology, Division of
Perinatology, Hacettepe University Hospital, Tıp Fakültesi Street, Sıhhiye, Ankara, Turkey. Tel: +90-
532-353-0892. Fax: +90-312-305-1910. E-mail: atakantanacan@yahoo.com
page: 29
download article in pdf format
|
|
Abstract
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.
|
|
|
|
 |
Number 26
VOL. 26(1), 2023 |
Number 25
VOL. 25(2), 2022 |
Number 25
VOL. 25 (1), 2022 |
Number 24
VOL. 24(2), 2021 |
Number 24
VOL. 24(1), 2021 |
Number 23
VOL. 23(2), 2020 |
Number 22
VOL. 22(2), 2019 |
Number 22
VOL. 22(1), 2019 |
Number 22
VOL. 22, 2019 Supplement |
Number 21
VOL. 21(2), 2018 |
Number 21
VOL. 21 (1), 2018 |
Number 21
VOL. 21, 2018 Supplement |
Number 20
VOL. 20 (2), 2017 |
Number 20
VOL. 20 (1), 2017 |
Number 19
VOL. 19 (2), 2016 |
Number 19
VOL. 19 (1), 2016 |
Number 18
VOL. 18 (2), 2015 |
Number 18
VOL. 18 (1), 2015 |
Number 17
VOL. 17 (2), 2014 |
Number 17
VOL. 17 (1), 2014 |
Number 16
VOL. 16 (2), 2013 |
Number 16
VOL. 16 (1), 2013 |
Number 15
VOL. 15 (2), 2012 |
Number 15
VOL. 15, 2012 Supplement |
Number 15
Vol. 15 (1), 2012 |
Number 14
14 - Vol. 14 (2), 2011 |
Number 14
The 9th Balkan Congress of Medical Genetics |
Number 14
14 - Vol. 14 (1), 2011 |
Number 13
Vol. 13 (2), 2010 |
Number 13
Vol.13 (1), 2010 |
Number 12
Vol.12 (2), 2009 |
Number 12
Vol.12 (1), 2009 |
Number 11
Vol.11 (2),2008 |
Number 11
Vol.11 (1),2008 |
Number 10
Vol.10 (2), 2007 |
Number 10
10 (1),2007 |
Number 9
1&2, 2006 |
Number 9
3&4, 2006 |
Number 8
1&2, 2005 |
Number 8
3&4, 2004 |
Number 7
1&2, 2004 |
Number 6
3&4, 2003 |
Number 6
1&2, 2003 |
Number 5
3&4, 2002 |
Number 5
1&2, 2002 |
Number 4
Vol.3 (4), 2000 |
Number 4
Vol.2 (4), 1999 |
Number 4
Vol.1 (4), 1998 |
Number 4
3&4, 2001 |
Number 4
1&2, 2001 |
Number 3
Vol.3 (3), 2000 |
Number 3
Vol.2 (3), 1999 |
Number 3
Vol.1 (3), 1998 |
Number 2
Vol.3(2), 2000 |
Number 2
Vol.1 (2), 1998 |
Number 2
Vol.2 (2), 1999 |
Number 1
Vol.3 (1), 2000 |
Number 1
Vol.2 (1), 1999 |
Number 1
Vol.1 (1), 1998 |
|
|
|
