Understanding TARS in Pregnancy A Rare Genetic Disorder s Obstetric Implications

Introduction

Pregnancy presents unique challenges, and even more so when compounded by rare genetic disorders such as Thrombocytopenia and Absent-Radii Syndrome (TARS). A recent case series review by Halperin et al. explores how TARS affects pregnancy, revealing vital insights for both clinicians and expectant mothers.
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What Is TARS and Why It Matters During Pregnancy

TARS is a rare congenital disorder defined by significantly low platelet counts and radial bone malformations. Its genetic basis involves a microdeletion and a specific polymorphism in the RBM8A gene on chromosome 1. During pregnancy, platelet levels in women naturally drop, but those with TARS may experience severe declines, increasing the risk of complications.

Case Summaries and Observations

The study highlights three clinical cases involving pregnant women with TARS:

• Case 1: A 24-year-old woman managed a term pregnancy without complications, though her platelet count fell to 40 x 10⁹/L.
• Case 2: A woman with partial TARS required platelet transfusion during delivery but had a normal pregnancy.
• Case 3: Despite elective cesarean and emergency delivery in subsequent pregnancies, effective use of platelet transfusions and tranexamic acid helped avoid major hemorrhage.
• the full study at https://doi.org/10.29328/journal.cjog.1001056

Clinical Challenges and Management Strategies

Key clinical challenges during delivery in TARS patients include:

• Neuraxial anesthesia limitations due to thrombocytopenia
• Platelet transfusion logistics, especially considering potential HLA antibodies
• Vascular access difficulties arising from limb deformities
• Fertility concerns and increased miscarriage rates

British Society of Haematology guidelines recommend maintaining platelet counts above 80 x 10⁹/L for anesthesia, although individual assessment is vital.

Future Treatment Perspectives

Although current management primarily includes platelet transfusion and cautious monitoring, thrombopoietin receptor agonists are emerging as potential therapies, especially in cases with refractory thrombocytopenia. Their use in TARS remains investigational but promising.

Further Reading and Resources

A detailed analysis can be found in our main journal article, where you can explore in-depth case discussions, data interpretation, and clinical implications.
Also, don’t miss other studies under the Maternal-Fetal Medicine category on our website.

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