Relationship between small-for-gestational age births and maternal thrombophilic mutations.
Small gestational age (SGA) is one of the major causes of fetal mortality and morbidity. Altered maternal homeostasis as a result of point mutations in the coagulation cascade has been reported as an important risk factor for this adverse pregnancy outcome. This study aims to investigate the relationship between mother's thrombophilic mutations and SGA deliveries in our population. The study group was consisted of sixty-six women who gave birth to one or more SGA babies. 104 women who gave birth to appropriate-for-gestational age (AGA) babies were sampled for the control group. Restriction fragment size analysis were performed by visualizing digested PCR products for Factor V Leiden (G1691A), Factor V Cambridge (A1090G), Factor V A1299G, prothrombin G20210A, methylene tetrahydropholate reductase C677T, A1298C and T1317C mutations. The results of this study indicate that maternal C677T (p=0.01) and A1298C (p<0.01) mutations in MTHFR gene may be suggested as risk factors for SGA outcome in our population. Therefore, maternal screening of these two mutations in the first trimester of pregnancy could help in the assessment of patients.
Baskent University School of Medicine, Department of Medical Biology and Genetics, Baglica Kampusu, Ankara, Turkey.
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Haberal
D000328:Adult; D005165:Factor V / Q000235:genetics*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007236:Infant, Small for Gestational Age; D008297:Male; D009035:Mothers; D009154:Mutation; D015997:Neonatal Screening / Q000379:methods; D017354:Point Mutation; D012150:Polymorphism, Restriction Fragment Length; D011247:Pregnancy; D012307:Risk Factors
C119012:factor V Cambridge; C095381:factor V Leiden; D005165:Factor V