Egyptian Journal of Medical Human Genetics

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Abnormal maternal biomarkers of homocysteine and methionine metabolism and the risk of congenital heart defects

Rabah M. Shawky, Ahmed R.M. Ramy, Sahar M. Nour El-Din, Sawsan M. Abd Elmonem, Marwa A. Abd Elmonem


Background: 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.
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