Abnormal maternal biomarkers of homocysteine and methionine metabolism and the risk of congenital heart defects
Joint Authors
Shawqi, Rabah M.
Nur al-Din, Sahar M.
Rami, Ahmad R. M.
Abd al-Munim, Marwah A.
Abd al-Munim, Sawsan M.
Source
The Egyptian Journal of Medical Human Genetics
Issue
Vol. 19, Issue 1 (31 Jan. 2018), pp.7-12, 6 p.
Publisher
Egyptian Society of Human Genetics
Publication Date
2018-01-31
Country of Publication
Egypt
No. of Pages
6
Main Subjects
Abstract EN
ackground : Recent advances in genetic technology have had a significant impact on the practice of clinical genetics and the diagnosis of genetic syndromes associated with cardiac malformations.
Aim : The present study was aimed to determine whether biomarkers of the folic acid pathway, including homocysteine and methionine metabolism are altered among non pregnant women who have had a previous pregnancy affected by congenital heart defects.
Subjects and methods: The study was conducted on 50 women attending the Medical Genetics center and the Pediatric Cardiology Clinic, Faculty of Medicine, Ain Shams University for follow up.
Mothers were subdivided into : Group 1 (Cases): 25 mothers with a history of congenital heart defects in previous children.
Group 2 (Controls): 25 mothers and their children didn’t have any birth defects including congenital heart defects.
In both groups women will be excluded: If they were pregnant or taking folate antagonist medications (antiepileptic drugs) or vitamin supplementations at the time of the study.
Measurement of plasma concentration of: Vitamin B-12, folic acid, Homocysteine, Methionine, S-adenosylmethionine (SAM) and S-adenosylhomocysteine (SAH), by using Radio immunoassay kit was done.
Results: There is a significant difference between cases and controls as regards history of early neonatal deaths (28%) in cases versus (4%) in controls (P < 0.05).
The study also revealed that the most frequent congenital cardiovascular malformation is VSD (32%) followed by ASD (20%).As regards biomarker concentrations all, were significantly different between case and control subjects except for methionine.
Conclusion : An elevated levels of maternal homocysteine is an independent risk factor for congenital heart defects.
Finally: There is an increasing need for professionals to apply and interpret genetic testing in a clinically meaningful way for prevention of congenital heart defects
American Psychological Association (APA)
Shawqi, Rabah M.& Rami, Ahmad R. M.& Nur al-Din, Sahar M.& Abd al-Munim, Sawsan M.& Abd al-Munim, Marwah A.. 2018. Abnormal maternal biomarkers of homocysteine and methionine metabolism and the risk of congenital heart defects. The Egyptian Journal of Medical Human Genetics،Vol. 19, no. 1, pp.7-12.
https://search.emarefa.net/detail/BIM-783636
Modern Language Association (MLA)
Shawqi, Rabah M.…[et al.]. Abnormal maternal biomarkers of homocysteine and methionine metabolism and the risk of congenital heart defects. The Egyptian Journal of Medical Human Genetics Vol. 19, no. 1 (Jan. 2018), pp.7-12.
https://search.emarefa.net/detail/BIM-783636
American Medical Association (AMA)
Shawqi, Rabah M.& Rami, Ahmad R. M.& Nur al-Din, Sahar M.& Abd al-Munim, Sawsan M.& Abd al-Munim, Marwah A.. Abnormal maternal biomarkers of homocysteine and methionine metabolism and the risk of congenital heart defects. The Egyptian Journal of Medical Human Genetics. 2018. Vol. 19, no. 1, pp.7-12.
https://search.emarefa.net/detail/BIM-783636
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references : p. 12
Record ID
BIM-783636