Tag: #GeneticCounseling
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Understanding MTHFR Gene Polymorphism A Genetic Insight into Reproductive Health Challenges
Introduction: Genetic factors have a profound impact on reproductive health, influencing fertility, pregnancy outcomes, and fetal development. One such critical genetic variant is the C677T polymorphism in the Methylenetetrahydrofolate Reductase (MTHFR) gene. This polymorphism disrupts folate metabolism and raises homocysteine levels, contributing to disorders such as male infertility, PCOS, miscarriage, and congenital anomalies. A recent…
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Against the OddsProlonged Latency in Previable PPROM Offers Hope in Twin Pregnancies
Introduction Previable Preterm Premature Rupture of Membranes (PPROM) presents a critical challenge in obstetrics, especially in twin pregnancies. A recent case series published in Clinical Journal of Obstetrics and Gynecology explores the outcomes of three rare cases where latency was significantly extended beyond expectations. These findings shed new light on expectant management strategies that may…
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Recurrent Miscarriage in SubSaharan Africa Exploring Causes, Challenges, and Future Solutions
Introduction Recurrent miscarriage is a pressing but often underreported reproductive health issue in Sub-Saharan Africa. With limited diagnostic resources and poor access to specialized care, many women experience repeated pregnancy loss without clear explanations or effective interventions. A recent review sheds light on the prevalence, causes, and potential solutions to recurrent miscarriage in the region.Visit…
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Apert Syndrome Unveiling a Rare Craniofacial Disorder
Introduction: Apert Syndrome, a rare genetic condition, causes significant craniofacial abnormalities and syndactyly, affecting one in 160,000 to 200,000 live births. This article explores the clinical manifestations, diagnostic methods, and treatment approaches for Apert Syndrome. For more groundbreaking research on craniofacial disorders, visit https://www.obstetricgynecoljournal.com. Main Content: Apert Syndrome is an autosomal dominant disorder primarily caused…
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A Fatal Diagnosis in the Womb Understanding Meckel Gruber Syndrome and Its Devastating Implications
Introduction Among the rare congenital anomalies that challenge prenatal medicine, Meckel Gruber Syndrome (MGS) stands out as one of the most lethal. Characterized by severe malformations in the brain, kidneys, and limbs, MGS presents heartbreaking decisions for expecting parents. A recent case report published in Clinical Journal of Obstetrics and Gynecology adds valuable insight to…
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New Discovery of a Rare Robertsonian Translocation (15;22) – A Case Report from India
Introduction Robertsonian translocations are among the most common structural chromosomal rearrangements in humans, but the rob(15;22) translocation remains an exceptionally rare occurrence, accounting for just 0.6% of all Robertsonian translocations. This case report focuses on a 3-year-6-month-old male child diagnosed with rob(15;22) in association with trisomy 21, an occurrence not previously documented. Visit https://www.clinmedcasereportsjournal.org/acr for…
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