Saeed Reza Ghaffari

Avicenna Research Institute, Infertility Center · Center for Clinical Genomics and Personalized Medicine

Background: Histopathological evaluation of the first trimester pregnancy loss has always been controversial. Although it is recommended, it is not a part of guidelines. Methods: Six hundred eighty-six samples in a referral infertility clinic were evaluated microscopically and categorized. Two hundred ninety-five cases were evaluated by genetic met...

Abstract Mucopolysaccharidoses (MPSs) are rare, heterogeneous inborn errors of metabolism (IEM) diagnosed through a combination of clinical, biochemical, and genetic investigations. The aim of this study was molecular characterization of the largest cohort of Iranian MPS patients (302 patients from 289 unrelated families), along with tracking their...

Mucopolysaccharidoses (MPSs) are rare, heterogeneous inborn errors of metabolism (IEM) diagnosed through a combination of clinical, biochemical, and genetic investigations. The aim of this study was molecular characterization of the largest cohort of Iranian MPS patients (302 patients from 289 unrelated families), along with tracking their ethnicit...

Background Next-generation sequencing has been proven to be a reliable method for the detection of genetic causes in heterogeneous ocular disorders. In this report an NGS-based diagnostic approach was taken to uncover the genetic etiology in a patient with coloboma and microphthalmia, a highly heterogeneous disease with intrafamilial phenotypic var...

Background: Around 70% of all pregnancies (Including 15% of clinically-recognized ones) are lost due to various fetal or maternal disorders. Chromosomal aneuploidies are among the most common causes of pregnancy loss. Standard chromosome analysis using G-banding technique (Karyotype) is the technique of choice in studying such abnormalities; howev...

Objectives: Mucopolysaccharidosis type VII (MPS VII) or Sly syndrome is a rare autosomal recessive disorder caused by deficiency of β-glucuronidase enzyme, which is involved in degradation of glycosaminoglycans. The lack of β-glucuronidase in this lysosomal storage disorder is characterized by various manifestations such as nonimmune hydrops fetali...

Purpose Retinitis pigmentosa (RP) is the most common hereditary retinal degeneration and an important cause of visual disability worldwide. Rhodopsin gene is one of the most important genes implicated in autosomal dominant RP (ADRP). In this study, we investigated rhodopsin gene mutations in Iranian patients with ADRP. Methods Twenty-one patients...

Purpose Cone-Rod Dystrophies (CRDs) are pigmentary retinopathies predominantly involving the macular cone photoreceptors leading to visual loss at an early age. Mutation analysis, especially in syndromic forms helps with diagnosis and disease management as well as prevention using preimplantation or prenatal diagnosis. However, it is hampered by ge...

Hematopoietic Stem Cell Transplantation (HSCT) is the only therapeutic option in a number of heritable hematologic disorders as well as hematologic cancers. Many parents and families fail to find an HLA-identical donor for their affected family member. In such cases, conceiving for a savior baby remains the only option especially in countries witho...

Objectives: To report a woman with primary ovarian insufficiency (POI) with reciprocal translocation between chromosomes 5 and 13. Methods: Chromosomal analysis (G-banding) of a 39-year-old woman with elevated gonadotropin levels and secondary amenorrhea and review of the literature with a special focus on disrupted genes at the reported breakpo...

The purpose of our study was describing the meaning of pregnancy through Assisted Reproductive Technologies (ARTs). A qualitative design with hermeneutic phenomenology approach was selected to carry out the research. Semistructured in-depth interviews were conducted with 12 women who experienced assisted pregnancy. Three themes emerged from women’s...

Prenatal diagnosis using conventional molecular genetic techniques may be encountered with some limitations when the disease causing mutation is unknown. Here, we report on prenatal diagnosis of tyrosinemia in a family with consanguineous marriage and two affected children in whom no disease causing mutation had been identified before pregnancy. Mu...

Background: Assisted reproductive technologies (ARTs) are complicated and stressful techniques and the social and cultural norms are major obstacles against their use. Many qualitative studies have been done in the field of women's experiences of infertility, but less is known about the experiences of infertile women seeking assisted pregnancy. Th...

The purpose of our study was describing the meaning of pregnancy through Assisted Reproductive Technologies (ARTs). A qualitative design with hermeneutic phenomenology approach was selected to carry out the research. Semistructured in-depth interviews were conducted with 12 women who experienced assisted pregnancy. Three themes emerged from women’s...

Introduction: Short tandem repeats (STRs), are DNA sequences that are uniquely scattered throughout the human genome. These markers are ideal candidates for diverse usages including gene mapping, phylogenetic reconstruction, forensic medicine and indirect diagnosis of genetic disorders. Another application of STRs is in PGD (Preimplantation genetic...

https://www.ncbi.nlm.nih.gov/nuccore/KP734176.1

https://www.ncbi.nlm.nih.gov/nuccore/KP718610.1

https://www.ncbi.nlm.nih.gov/nuccore/KJ849294.1

Increased nuchal translucency (NT) thickness is associated with major abnormalities of the heart, great arteries and a wide range of genetic syndromes. NT thickness is one of the most important ultrasound markers in fetal diseases screening. To find an applicable method that accurately detects NT, we use an algorithm based on modified level set for...

Retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) are major causes of blindness. They result from mutations in many genes which has long hampered comprehensive genetic analysis. Recently, targeted next-generation sequencing (NGS) has proven useful to overcome this limitation. To uncover "hidden mutations" such as copy number variations...

Objective: Nuchal translucency (NT) thickness is one of the major screening markers during the first trimester that could be influenced by several factors. Here, we investigated the association between NT thickness and thyroid related hormones. Methods: NT thickness was measured with transabdominal ultrasound in 643 pregnant women between 11 and 13...

Preimplantation genetic diagnosis (PGD) has been considered as an alternative to prenatal diagnosis for prevention of genetic disorders while avoiding the subsequent termination of pregnancy. However, the limited amount of template DNA available in a single diploid cell used for PGD leads to number of problems including an increased incidence of de...

To study the outcome of cases with nuchal translucency (NT) ≥ 95th centile in the first trimester of pregnancy. This cross sectional study was performed at Iranian Fetal Medicine Foundation (FMF) between January 2009 and December 2011. Totally, 186 cases with NT≥ 95th centile who attended for the first trimester screening were studied. All cases wi...

Shortening of the fetal long bones is a sonographic soft marker for screening of Down syndrome in the second trimester that can be influenced by ethnicity. The purpose of this study was to provide normal reference ranges for femur and humerus diaphysis length during the second trimester of pregnancy in an Iranian population. This cross-sectional st...

To investigate the performance of first-trimester screening for chromosomal abnormalities by integrated application of nuchal translucency thickness (NT), nasal bone (NB), tricuspid regurgitation (TR) and ductus venosus (DV) flow combined with maternal serum free β-human chorionic gonadotropin (fβ-hCG) and pregnancy-associated plasma protein-A (PAP...

Williams-Beuren syndrome (WBS), a contiguous gene deletion syndrome, mostly occurs sporadically. Although a few cases of familial WBS have been reported in the literature, molecular confirmation of the deletion has not been carried out in all of them. Here, we report on the eighth clinically and molecularly confirmed inherited WBS detected in a fam...

Interstitial Microdeletion and Microduplication syndromes have been proposed as a significant cause of sporadic intellectual disability (ID) but the role of such aberrations in familial ID has not yet been investigated. As the balanced chromosomal abnormalities commonly lead to the recurrent ID or multiple congenital anomalies, this study was desig...

Cryptic subtelomeric rearrangements have been proposed as a significant cause of sporadic intellectual disability (ID) but the role of such aberrations in familial ID has not yet been studied. As positive family history of ID had been proposed as an important and significant predicting factor of subtelomeric rearrangements, it was assumed that the...

To provide a normal reference range for nasal bone length (NBL) during the second trimester of pregnancy in an Iranian population. This cross-sectional study was performed on 3201 fetuses at 15 to 28 weeks of gestational age (GA). Both singleton and twin fetuses were evaluated. The relationship between NBL and GA was determined and percentile value...

G-Banding followed by standard chromosome analysis is routinely used for prenatal detection of chromosomal abnormalities. In recent years, molecular cytogenetic techniques have been developed for rapid diagnosis of chromosomal abnormalities. Among these methods Quantitative Florescence Polymerase Chain Reaction (QF-PCR) has been widely used for thi...

Her2/neu is a biomarker which is amplified and/or overexpressed in a subset of breast cancer patients who are eligible to receive trastuzumab. Her-2 gene amplification analysed by fluorescence in situ hybridisation (FISH) and/or protein over-expression detected by immunohistochemistry (IHC) are the two main methods used to detect Her-2 status in cl...

Hereditary Diffuse Gastric Cancer (HDGC) is a dominantly inherited familial cancer syndrome resulting from germline mutations of the E-cadherin (CDH1) gene. The first Iranian family with HDGC is herein reported. The family fulfilled the International Gastric Cancer Linkage Consortium (IGCLC) criteria for HDGC. The entire coding region of the CDH1 g...

Background: The sperm count and function may be affected by karyotype abnormalities or microdeletion in Y chromosome. These genetic abnormalities can probably transmit to the children. Objective: In this study, we tried to determine the frequency of karyotype abnormalities and Y chromosome microdeletions in severe oligospermic or azoospermic men wh...

The aim of this study was to evaluate the presence of human papillomavirus (HPV) in saliva rinses of patients with oral squamous cell carcinoma and to analyze the possibility of using saliva as a diagnostic method for screening high-risk patients. The saliva sample of 22 patients with oral squamous cell carcinoma and 20 age-sex matched healthy cont...

Objective: Classic cell culture and karyotyping is routinely used for prenatal detection of different chromosomal abnormalities. Molecular cytogenetic techniques have also recently been developed and used for this purpose. Quantitative florescence PCR using short tandem repeat (STR) markers has more potential for high throughput diagnosis. Marker h...

Objective: Determining the frequency of chromosome 22q11.2 microdeletion in children with congenital cardiac conotruncal abnormalities using Fluorescence in-situ Hybridization (FISH) technique and estimating relation between DiGeorge Syndrome and cardiac conotruncal abnormalities. Methods: One-hundred and eighty cases (106 Males, 74 Females) with s...

Urinary cells obtained from voided urine specimens of 46 patients with urothelial carcinomas (UCs) and 10 normal individuals were analyzed with 3 different centromeric fluorescence in situ hybridization (FISH) probes. The overall sensitivity of cytology was 48.9% compared to 95.7%with the FISH technique. The minimum values were found for stage Ta a...

Common variable immunodeficiency (CVID) is a heterogeneous group of primary immunodeficiency disorders. In addition to recurrent infections and autoimmunity, cancers are more prevalent in these patients than the normal population. Increased radiosensitivity may be a reason for the increased malignancies. To analyze chromosomal radiosensitivity of C...

To isolate and construct a cloning vector containing the human papillomavirus (HPV)16-E7 gene as a target for application as a DNA vaccine. The study was performed in 2005 in Iran. The E7 gene, one of the most important HPV oncoproteins and a target molecule for therapeutic vaccines, was amplified by polymerase chain reaction (PCR). The PCR product...

Ataxia-telangiectasia is a multisystem disorder characterized by progressive neurologic impairment, variable immunodeficiency, impaired organ maturation, x-ray hypersensitivity, oculocutaneous telangiectasia, and a predisposition to malignancy. To evaluate clinical and immunologic features of Iranian patients with ataxia-telangiectasia, the records...

Objective: This study determined the chromosomal constitution of recurrent spontaneous abortions by Comparative genomic hybridization (CGH) analysis of fetal samples. Material and methods: 40 pregnant women with early recurrent pregnancy losses aged 21 to 42 years old from obstetric departments of Tehran University of Medical Sciences affiliated ho...

Breast cancer is one of the most common cancers in women; however, due to the complexity of chromosomal changes, limited data are available regarding chromosomal constitution. In this study, Comparative Genomic Hybridization (CGH) was used on 16 Iranian patients diagnosed with invasive ductal breast carcinomas. 12 samples had abnormal CGH results (...

HPV infection has a prime etiologic role in development and progression of cervical cancer, one of the most frequent forms of cancer among women in developing countries. This study was designed to determine the most prevalent HPV genotypes in women with normal and abnormal cervical cytology in Iran. Samples from134 patients, including 127 who atten...

As many as 30% of node-negative breast cancer patients relapse within five years, suggesting that current histological detection methods are inadequate for identifying metastatic disease. Detecting small number of cancer cells in the breast tissue or lymph node by reverse transcription-polymerase chain reaction (RT-PCR) assays using a combination o...

Valuable medical information can be achieved by analysing shape and appearance of human chromosomes. Karyotype, an image of collection of all 23 pairs of human chromosomes, is usually used for this purpose. Making a Karyotype is hard and time consuming, encouraging experts in the image processing and machine vision field to work towards an automati...

Many genetic disorders or possible abnormalities that may occur in the future generations can be predicted through analyzing the shape and morphological characteristics of the chromosomes. Karyotype (a systemized array of the human chromosomes obtained from a single cell either by drawing or by photography using a light microscope is often used for...

We report the use of comparative genomic hybridisation (CGH) to define the origin of a supernumerary ring chromosome which conventional cytogenetic banding and fluorescence in situ hybridisation (FISH) methods had failed to identify. Targeted FISH using whole chromosome 19 library arm and site specific probes then confirmed the CGH results. This st...

Cryptic unbalanced chromosome rearrangements in the telomeric bands of human chromosomes constitute a significant cause of "idiopathic" mental retardation. Here, we have described a new strategy based upon comparative genomic hybridisation (CGH) to screen for these abnormalities. A modified CGH analysis showed three unbalanced cryptic rearrangement...

Thesis (Ph. D.)--University of Glasgow, 1998.