Letter to the Editor
Case studies of fetal mosaicisms detected by non-invasive prenatal testing
Dear Editor,
The American College of Medical Genetics and Genomics recommended that all pregnant women be offered non-invasive prenatal testing (NIPT) regardless of the patient’s risk profile.1 With increasing NIPT uptake, encounters with genetic conditions other than the 3 common fetal trisomies are becoming prevalent. We report 2 cases of...
Review Article
Advances in Imaging in Prenatal Diagnosis and Fetal Therapy
Technology in sonography has advanced tremendously in recent years, contributing to improvements in clinical applications for prenatal diagnosis and fetal therapy. These include transvaginal scanning, harmonic imaging, Doppler imaging, 3-dimensional (3D) ultrasonography and magnetic resonance imaging (MRI) ultrafast sequences.
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Others
The Importance of High Resolution Chromosome Analysis in the Diagnosis of Birth Defects: Case Reports of Holoproscencephaly and Cystic Hygroma
Optimal chromosome preparation is a function of many factors. These include cell density culture initiation, optimal time for harvest, concentration and exposure duration to a mitotic arrestant, appropriate hypotonic treatment and adequate fixation with modified Carnoy’s fixative.
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Review Article
The Scope of Paediatric Sleep Medicine
Despite apparent similarities to adult sleep medicine, the disorders of paediatric sleep medicine have a distinct epidemiology and pathophysiology. During childhood, the physiology of sleep develops and matures, resulting in changing patterns of normal behaviours and of sleep disorders.
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Original Article
Molecular Analysis of the SMN1 and NAIP Genes in Iranian Patients with Spinal Muscular Atrophy
Proximal spinal muscular atrophy (SMA) is one of the most common autosomal recessive disorders. It is characterised by degeneration of the anterior horn cells of the spinal cord, resulting in symmetrical limb muscle atrophy and weakness. SMA has an estimated incidence of 1 in 10,000 live births.1 Its severe...