background: the aim of this perspective study was to assess the frequency of hemoglobinopathy mutational genes among voluntary hemoglobinopathy carrier couples-to-be referred to thalassemia center, shafa hospital, affiliated to ahvaz jondidishapur university of medical sciences (ajuoms), during their first trimester of pregnancy for genetic screening and counseling for prenatal diagnosis (pnd)....

extract when a woman undergoes genetic testing of her fetus, the physiologic and emotional demands are great. careful nursing assessment and support are vital. the main benefit of prenatal genetic diagnosis is that women be given the opportunity to coping with your pregnancy where fetal abnormalities has been diagnosed or achieve  to a complete relaxation with  the positive results obtained . e...

abstract background thalassemia is common in the iranian population, and it must be considered in the differential diagnosis of the microcytic hypochromic anemia. the molecular analysis of β-thalassemia is necessary for prenatal molecular diagnosis. α-thalassemia caused by loss of function of either one of the two duplicated α-globin genes or in less frequent non deletion mutations mostly locat...

introduction: the most common chromosomal abnormalities detected in perinatal period are aneuploidies of chromosome 21, 18, 13, x and y. the aim of this study is to assess referral reasons for invasive diagnostic method using rapid qf-pcr for fetal chromosomal abnormalities in gynecologists’ referrals. methods: a retrospective study of results was performed on data between september 2015 and ju...

how to cite this article: javadzadeh m. prenatal diagnosis and genetic counseling for niemann-pick c disease. iran j child neurol. 2015 autumn;9:4(suppl.1): 22.   pls see pdf.

conclusions at present, no single diagnostic procedure is able to cause damage to the embryo or fetus. there are possible harmful effects for doses above 0.2 - 0.25 gy (20-25 rad). context many women of reproductive age and pregnant women require diagnostic tests involving ionizing radiation. fetal exposure to radiation worries both the patient and the obstetricians and could lead to inappropri...

neonatal ovarian cysts (noc) are usually self-limiting structures, however, large or complex cysts may lead to severe complications. unfortunately, no standard guidelines have been introduced for the management, treatment and follow-up of these cysts. in this report, we aimed to introduce a very large noc without any pre- and post-natal complications. a 30 year-old mother, gravida 2, para 2, wi...

background evaluation of the cerebellum and vermis is one of the integral parts of the fetal cranial anomaly screening. objectives the aim of this study was to create a nomogram for fetal vermis measurements between 17 and 30 gestational weeks. patients and methods this prospective study was conducted on 171 volunteer pregnant women between march 2013 and december 2014. measurements of the feta...

in previous years, identification of fetal cells in maternal blood circulation has caused a new revolution in non-invasive method of prenatal diagnosis. low number of fetal cells in maternal blood and long-term survival after pregnancy limited the use of fetal cells in diagnostic and clinical applications. with the discovery of cell-free fetal dna (cffdna) in plasma of pregnant women, access to...