Egyptian Journal of Medical Human Genetics (Jan 2018)

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

DOI
https://doi.org/10.1016/j.ejmhg.2017.08.004
Journal volume & issue
Vol. 19, no. 1
pp. 7 – 12

Abstract

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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.