Impaired DNA methylation associated adverse gestational outcomes: A case report

Objective & Hypothesis:The methylenetetrahydrofolate reductase (MTHFR) gene encodes an enzyme called MTHFR involved in the processes of DNA methylation and chromosome segregation.

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Key Findings & Data:Herein, we have reported a patient with compound heterozygous MTHFR polymorphisms in whom different type of adverse pregnancy outcomes (1. blighted ovum, 2. preterm delivery, and 3. pregnancy with a fetus having anencephaly and meningocele going together with 46, XX, del (13) (q22)) were observed in her previous 3 pregnancies.

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Conclusion & Impact:In conclusion, DNA methylation enzyme pathway disorders are associated with adverse gestational outcomes.

🔬Design:Case Report

📍Scope:Comprehensive Sample

⚙️Variables:Methylenetetrahydrofolate reductase deficiency · DNA methylation · Premature birth

Abstract

The methylenetetrahydrofolate reductase (MTHFR) gene encodes an enzyme called MTHFR involved in the processes of DNA methylation and chromosome segregation. MTHFR polymorphisms are associated with DNA methylation disorders including congenital malformations and chromosomal abnormalities, and various obstetrical complications such as miscarriage, fetal growth retardation, preeclampsia, preterm labor, etc. Herein, we have reported a patient with compound heterozygous MTHFR polymorphisms in whom different type of adverse pregnancy outcomes (1. blighted ovum, 2. preterm delivery, and 3. pregnancy with a fetus having anencephaly and meningocele going together with 46, XX, del (13) (q22)) were observed in her previous 3 pregnancies. She was referred to our hospital during her third pregnancy for prenatal diagnosis. Her fourth baby was born healthy at 37th gestational week after having necessary precautions. Low dose low molecular weight heparin and low-dose acetylsalicylic acid were added to patient-specific management protocol immediately after the confirmation of her fourth pregnancy. In conclusion, DNA methylation enzyme pathway disorders are associated with adverse gestational outcomes.

Özet

Metilentetrahidrofolat redüktaz (MTHFR) geni, DNA metilasyonu ve kromozom ayrılması süreçlerinde yer alan MTHFR adı verilen bir enzimi kodlar. MTHFR polimorfizmleri, konjenital malformasyonlar ve kromozomal anomalilerini içeren DNA metilasyon bozuklukları ve abortus, fetal büyüme geriliği, preeklampsi, erken doğum, vb. gibi çeşitli obstetrik komplikasyonlarla ilişkilidir. Çalışmamızda compound heterozigot mutasyonu olan ve önceki üç gebeliğinde kötü obstetrik sonuçları (1. blighted ovum, 2. preterm doğum ve 3. anensefali ve meningoseli, 46, XX, del (13) (q22) ile birlikte seyreden bir fetus ile gebelik) olan bir hasta değerlendirilmiştir. Hastanın dördüncü bebeği gerekli önlemleri aldıktan sonra 37. gebelik haftasında sağlıklı doğdu. Dördüncü gebeliğin doğrulanması takiben düşük doz düşük moleküler ağırlıklı heparin ve düşük doz asetilsalisilik asit hastaya özgü yönetim protokolü çerçevesinde başlandı. Sonuç olarak, DNA metilasyon enzimi yolu bozuklukları, olumsuz gebelik sonuçları ile ilişkilidir.

Keywords

Methylenetetrahydrofolate reductase deficiency DNA methylation Premature birth 13q deletion syndrome neural tube defects

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Cite This Article

Urel, G., Donmez, H. G., Fadıloğlu, E., Unal, C., Cagan, M., Utine, G. E., Beksac, M. (2020). Impaired DNA methylation associated adverse gestational outcomes: A case report. Türk Kadın Sağlığı ve Neonatoloji Dergisi, Volume: 2 Issue: 4. https://doi.org/10.46969/ezh.805121

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