Thrombocytopenia-absent radius syndrome: prenatal diagnosis of a rare syndrome

Bertoni, Natalia; Pereira, Daniela Cardoso; Júnior, Edward Araujo; Bussamra, L. C. S.; Aldrighi, José Mendes

doi:10.1590/0100-3984.2015.0117

Cited by 5 publications

(6 citation statements)

References 5 publications

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“…Antenatal diagnosis of TAR syndrome requires typical ultrasound finding of bilateral radial agenesis with preservation of the index finger, as well as thrombocytopenia, which is diagnosed through foetal blood sampling by cordocentesis. The diagnosis can be confirmed genetically by amniocentesis, chorionic villus sampling or foetal blood sampling …”

Section: Discussionmentioning

confidence: 99%

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The presentation and management of platelet disorders in pregnancy

Goldman

Hehir

Yambasu

et al. 2018

European J of Haematology

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Thrombocytopenia, defined as a platelet count less than 150 000 per microlitre, occurs in 7%-12% of all pregnancies. Apart from anaemia, it is the most common haematological disorder in pregnancy. Despite its frequent occurrence, thrombocytopenia often leads to difficulties of diagnosis and management in pregnancy. Typically, a pregnant woman will have platelet counts of 150 000 to 450 000 per microlitre and platelet counts may be slightly lower than those of healthy, non-pregnant controls. Approximately, 8% of pregnant women will develop mild thrombocytopenia (100 000-150 000 per microlitre) and while 65% of these women will have no underlying pathology, all pregnant women with platelet counts of less than 100 000 per microlitre should undergo further clinical and laboratory assessment. Thrombocytopenia in pregnancy occurs as a result of multiple distinct conditions, we present four cases of thrombocytopenia in pregnancy encountered in our unit over a 12-month period. These include gestational thrombocytopenia, immune thrombocytopenic purpura (ITP), thrombotic thrombocytopenic purpura (TTP) and thrombocytopenia absent radius (TAR) syndrome. The literature review of these cases highlights the significance of identification, understanding pathophysiology and a multidisciplinary approach to these conditions. We refresh knowledge on these conditions and emphasise the importance of thrombocytopenia in pregnancy.

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Section: Discussionmentioning

confidence: 99%

“…If the foetus is found to be affected, it is managed with intrauterine platelet transfusions and choosing a method of delivery that minimises the risk of haemorrhage . The timing of delivery is based on assessing the risk‐benefit ratio with no definitive guidelines currently available.…”

Section: Discussionmentioning

confidence: 99%

The presentation and management of platelet disorders in pregnancy

Goldman

Hehir

Yambasu

et al. 2018

European J of Haematology

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“…In these patients, one copy of the RBM8A gene is non-functional due to the microdeletion and the other copy is not expressed normally due to the rare, non-coding SNP [1,9]. Diagnosis of the syndrome can occur prenatally by ultrasound and platelet count via fetal blood sampling via cordocentesis [10]. At birth, the absence of radii and the presence of thrombocytopenia, with or without other manifestations of TAR, are considered hallmarks of a positive diagnosis [6].…”

Section: Discussionmentioning

confidence: 99%

Thrombocytopenia With Absent Radii Syndrome With an Unusual Urological Pathology: A Case Report

Farlett¹,

Kulkarni²,

Thomas³

et al. 2022

Cureus

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Thrombocytopenia with absent radii (TAR) syndrome is a rare congenital syndrome that follows an autosomal recessive pattern of inheritance. TAR syndrome is characterized by thrombocytopenia and bilateral absence (aplasia) of the radii of the forearms. This syndrome can be associated with defects within the skeletal, cardiac, renal, or gastrointestinal systems. It is important for clinicians treating patients with TAR syndrome to be aware of the myriad of complications that may arise in the other organ systems in order to promptly diagnose and treat any associated anomalies. We present a case of an African American infant diagnosed with TAR syndrome who was also found to have grade 5 vesicoureteral reflux and moderate right hydronephrosis, as well as cow's milk protein allergy.

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“…The importance of imaging methods in the diagnosis of congenital malformations ( 1 - 3 ) , especially in fetal medicine ( 4 - 7 ) , has been the objective of a series of recent studies conducted in Brazil. Because of improvements in image resolution, together with the development of tissue-specific contrast agents, increases in the speed of image acquisition, and the availability of software for image processing, as well as its wide field of view, magnetic resonance imaging (MRI) has become an important tool in fetal diagnostics.…”

Section: Introductionmentioning

confidence: 99%

Evaluation of the fetal abdomen by magnetic resonance imaging. Part 1: malformations of the abdominal cavity

et al. 2018

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Although ultrasound continues to be the mainstay modality for the evaluation of fetal disorders, fetal magnetic resonance imaging (MRI) has often been used as a valuable adjunct in recent years. The exponential growth of the use of fetal MRI has been facilitated by technological advancements such as ultrafast T2-weighted sequences and diffusion-weighted imaging. Fetal MRI can achieve results that are comparable to or better than those of ultrasound, particularly in cases of maternal obesity, severe oligohydramnios, or abnormal fetal position. Because of its superior soft tissue contrast, wide field of view, and multiplanar imaging, fetal MRI is able to evaluate the large fetal organs, such as the lungs, liver, bowel, and kidneys. In addition, fetal MRI allows large or complex malformations to be examined, facilitating the understanding of the malformation within the context of the body as a whole. Initial fetal MRI studies were focused on the central nervous system. With advances in software and hardware, fetal MRI gained importance in the evaluation of the fetal abdomen. The purpose of this article is to review the recent literature and developments in MRI evaluation of the fetal abdomen, with an emphasis on imaging aspects, protocols, and common clinical indications.

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Thrombocytopenia-absent radius syndrome: prenatal diagnosis of a rare syndrome

Cited by 5 publications

References 5 publications

The presentation and management of platelet disorders in pregnancy

The presentation and management of platelet disorders in pregnancy

Thrombocytopenia With Absent Radii Syndrome With an Unusual Urological Pathology: A Case Report

Evaluation of the fetal abdomen by magnetic resonance imaging. Part 1: malformations of the abdominal cavity

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