Second trimester prenatal diagnosis in Glanzmann's Thrombasthenia

Kulkarni, Bipin; Ghosh, Kanjaksha; Shetty, Shrimati

doi:10.1111/hae.12865

Cited by 5 publications

(4 citation statements)

References 10 publications

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“…Multidisciplinary approach in a reference centre Prenatal diagnosis has rarely been reported in patients with GT. [48][49][50][51] It may be proposed in cases of consanguinity because of the risk to the offspring, given the 50% risk of an affected fetus for a woman with GT and a consanguineous heterozygous partner. Invasive prenatal diagnostic methods, such as chorionic villus sampling and amniocentesis, allow definitive diagnosis but are associated with a risk of procedure-related fetal loss that should be discussed with the couple.…”

Section: Genetic Counseling and Prenatal Diagnosis Casementioning

confidence: 99%

How I manage pregnancy in women with Glanzmann thrombasthenia

Fiore

Sentilhes

d’Oiron

2022

Blood

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Glanzmann thrombasthenia (GT) is a rare inherited platelet function disorder caused by a quantitative and/or qualitative defect of the αIIbβ3 integrin. Pregnancy and delivery is a recognized risk period for bleeding in women with GT. The newborn may also be affected by fetal and neonatal immune thrombocytopenia induced by the transplacental passage of maternal anti-αIIbβ3 antibodies, which can lead to severe hemorrhage and fetal loss. Pregnancy in GT women thus requires a multidisciplinary approach, including prepregnancy counseling, and a treatment plan for delivery for both the mother and child. In this article, we summarize the current knowledge on pregnancy in women with GT and describe how we manage this severe platelet disorder in our clinical practice.

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Section: Genetic Counseling and Prenatal Diagnosis Casementioning

confidence: 99%

How I manage pregnancy in women with Glanzmann thrombasthenia

Fiore

Sentilhes

d’Oiron

2022

Blood

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“…Prenatal diagnosis is routinely confirmed by genetic testing, 1 although flow cytometry has also been used. 94 Pregnant women who are known to have GT should also be screened for anti- α IIb β 3 antibodies via monoclonal antibody-specific immobilization of platelet antigen (MAIPA) assay regularly throughout gestation, 95 as these antibodies can cross the placenta and cause dangerously low platelet levels in the fetus. 31 , 96 , 97 Mothers must be counseled about this risk and for this reason, it is important to test the newborn’s platelet count within the first few hours life 8 if maternal antibodies have been detected.…”

Section: Managementmentioning

confidence: 99%

Glanzmann Thrombasthenia: Perspectives from Clinical Practice on Accurate Diagnosis and Optimal Treatment Strategies

Mathews¹,

Rivard²,

Bonnefoy³

2021

JBM

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Glanzmann thrombasthenia (GT) is a rare autosomal recessive disorder of fibrinogen-mediated platelet aggregation due to a quantitative or qualitative deficit of the α IIb β 3 integrin at the platelet surface membrane resulting from mutation(s) in ITGA2B and/or ITGB3 . Patients tend to present in early childhood with easy bruising and mucocutaneous bleeding. The diagnostic process requires consideration of more common disorders of haemostasis and coagulation prior to confirming the disorder with platelet light transmission aggregation, flow cytometry of CD41 and CD61 expression, and/or exon sequencing of ITGA2B and ITGB3 . Antifibrinolytic therapy, recombinant activated factor VII, and platelet transfusions are the mainstay of therapy, although the latter may trigger formation of anti-platelet antibodies in GT patients and inadvertent platelet-refractory disease. The management of these patients therefore remains complex, particularly in the context of trauma, labour and delivery, and perioperative care. Bone marrow transplantation remains the sole curative option, although the venue of gene therapy is being increasingly explored as a future alternative for definitive treatment of GT.

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“…Вагітним жінкам з ТГ, або при наявності цієї патології у чоловіка, необхідно рекомендувати пренатальну діагностику плода на ТГ, особливо при єдинокровних шлюбах. Для пренатальної діагностики зазвичай застосовують генетичну діагности-ку [4], хоч і поточна цитометрія також може бути інформативною [33]. У вагітної з ТГ необхідно слідкувати за рівнем антитіл проти αIIbβ3 інтегрину тромбоцитів методом MAIPA (monoclonal antibody-specifi c immobilization of platelet antigen [34].…”

Section: огляд літературиunclassified

Blood Cortisol Concentration, Hemodynamics and Metabolism of Patients With Secondary Hyperparathyroidism, Possibilities of Perioperative Correction

Sobko¹,

Ковальов²,

Дорош³

et al. 2021

Pain Anaesth Int Care

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A clinical case of severe bleeding from the wells of extracted teeth in a 9-year-old girl with Glanzman’s thrombasthenia is reported. Literature data on diagnosis and management of such patients are given. The authors emphasize that in the treatment of such patients sometimes it is necessary to make extraordinary decisions that can save the patient’s life. In this case, a direct blood transfusion was performed.

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Second trimester prenatal diagnosis in Glanzmann's Thrombasthenia

Cited by 5 publications

References 10 publications

How I manage pregnancy in women with Glanzmann thrombasthenia

How I manage pregnancy in women with Glanzmann thrombasthenia

Glanzmann Thrombasthenia: Perspectives from Clinical Practice on Accurate Diagnosis and Optimal Treatment Strategies

Blood Cortisol Concentration, Hemodynamics and Metabolism of Patients With Secondary Hyperparathyroidism, Possibilities of Perioperative Correction

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