Research

Gestational outcomes of pregnant women who have had invasive prenatal testing for the prenatal diagnosis of spinal muscular atrophy

M.Sinan Beksac, Hayat Yurter, Atakan Tanacan, Burcu Soyak, Gokcen Orgul, Duygu Aydin Hakli, Tolga Celik, Gamze Bora, Ayse Nur Cakar, Haluk Topaloglu

Abstract


Background and Objective: To notify the importance of the prenatal diagnosis of spinal muscular atrophy (SMA) and to demonstrate the gestational outcomes of disease carrier pregnant women who have had invasive prenatal testing (IPT).

 Methods: We  retrospectively evaluated 113  pregnancies of 76 patients who were referred to the Division of Perinatal Medicine, Hacettepe University, Ankara for the prenatal diagnosis of SMA inbetween 2000 and 2015. We evaluted the screening results and gestational outcomes of the patients.  The pregnancy outcomes were compared to a control group of 179 patients .Beksac Obstetrics Index (BOI) was used for the comparison of obstetrical “histories/backgrounds” of the study and control groups.

Results: Chorionic villus sampling (CVS) and amniocentesis (AC) were performed 83 (73.5%) and 30 (26.5%) cases respectively. 24 (21.2%) of the fetuses were found to be disease positive and and 23 of them were terminated. The median gestational day at birth, median birthweights and median BOI of the study and control groups were  compared and the difference was statistically significant (p<0.001),(p=0.002),(p=0.001).

Conclusion: Prenatal diagnosis of SMA is very important  and nationwide special  antenatal care program must be run for better diagnosis and eradication of this genetical disorder.

Key words: spinal muscular atrophy; prenatal diagnosis; invasive prenatal testing; genetic counseling


Authors' affiliations

M.Sinan Beksac, Hacettepe University, Department of Obstetrics and Gynecology, Division of Perinatology

Hayat Yurter, Hacettepe University, Department of Medical Biology

Atakan Tanacan, Hacettepe University, Department of Obstetrics and Gynecology, Division of Perinatology

Burcu Soyak, Hacettepe University, Department of Obstetrics and Gynecology

Gokcen Orgul, Hacettepe University, Department of Obstetrics and Gynecology, Division of Perinatology

Duygu Aydin Hakli, Hacettepe University, Division of Biostatistics

Tolga Celik, Hacettepe University, Department of Pediatrics, Division of Neonatology

Gamze Bora, Hacettepe University, Department of Medical Biology

Ayse Nur Cakar, Department of Histology and Embryology, TOBB ETU University Medical Faculty

Haluk Topaloglu, Division of Neurology, Department of Pediatrics, Hacettepe University Medical Faculty,

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Keywords

spinal muscular atrophy; prenatal diagnosis; invasive prenatal testing; genetic counseling

Cite this article

South African Journal of Obstetrics and Gynaecology 2018;24(1):15-17. DOI:10.7196/sajog.1270

Article History

Date submitted: 2017-10-19
Date published: 2018-05-17

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