Whole exome sequencing identifies novel pathogenic variants in TGM1 and ALOX12B in patients with hereditary ichthyosis.

Background: Hereditary ichthyosis is a clinically and genetically heterogeneous disorder associated with more than 50 genes with TGM1, ALOX12B, and ALOXE3 being the most prevalent. Establishing an accurate diagnosis is important for effective genetic counseling and optimal patient management.

Objective: We studied the diagnostic value of whole exome sequencing (WES) in a small case series with hereditary ichthyosis.

Histological Evaluation of Products of Conception, Who Benefits from It?

Histopathological evaluation of the first trimester pregnancy loss has always been controversial. Although it is recommended, it is not a part of guidelines. Six hundred eighty-six samples in a referral infertility clinic were evaluated microscopically and categorized.

Identification of a novel de novo variant in in a patient with congenital microphthalmia using targeted next-generation sequencing followed by prenatal diagnosis.

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 variability.

Materials And Methods: Next generation sequencing using a targeted panel of 316 genes, was carried out in the proband.

Detection of Aneuploidies in Products of Conception and Neonatal Deaths in Iranian Patients Using the Multiplex Ligation-Dependent Probe Amplification (MLPA).

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; however, this technique is time-consuming and sensitive, and limited by vulnerabilities such as cell culture failure.

Non-progressive Nonimmune Hydrops Fetalis Caused by a Novel Mutation in Gene.

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 fetalis, spinal deformity, organomegaly, dysostosis multiplex, intellectual disability, and eye involvement. It is caused by a mutation in gene located on chromosome 7 q11.

Rhodopsin gene mutation analysis in Iranian patients with autosomal dominant retinitis pigmentosa.

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.

Preimplantation High-Resolution HLA Sequencing Using Next Generation Sequencing.

Hematopoietic stem cell transplantation (SCT) is the only therapeutic option in a number of heritable hematologic disorders and 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 without access to national registries.

A novel ACVR1 mutation detected by whole exome sequencing in a family with an unusual skeletal dysplasia.

"Disorganized Development of Skeletal Component" (DDSC) is a group of genetic skeletal dysplasia, caused by mutations in 9 genes including ACVR1. The most known ACVR1-related disorder is fibrodysplasia ossificans progressiva (FOP). FOP variants are frequently encountered with diagnostic challenges due to overlapping clinical manifestations and variable severity.

Experiences of Infertile Women Seeking Assisted Pregnancy in Iran: A Qualitative Study.

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. The aim of this study was to understand and describe the experience of women who have used assisted reproductive technologies for their current pregnancy.

Prenatal Diagnosis of Tyrosinemia Type 1 Using Next Generation Sequencing.

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. Mutation analyses of three genes associated with tyrosinemia including FAH, TAT and HPD were carried out in the fetal DNA sample using Next Generation Sequencing.

Paradox of Modern Pregnancy: A Phenomenological Study of Women's Lived Experiences from Assisted Pregnancy.

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.

A method for semi-automatic nuchal translucency thickness measurement.

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 semi-automated segmentation of the region.

Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.

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.

Correlation of nuchal translucency and thyroxine at 11-13 weeks of gestation.

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 weeks of gestation.

Heterozygosity assessment of five STR loci located at 5q13 region for preimplantation genetic diagnosis of spinal muscular atrophy.

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 detectable contamination; amplification failure and allele drop out. Due to their highly polymorphic and amplifiable characteristics, short tandem repeat (STR) analysis has been proposed as a mean to overcome these limitations.

Normal ranges for fetal femur and humerus diaphysis length during the second trimester in an Iranian population.

Objectives: 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.

Methods: This cross-sectional study was performed on 3011 singleton fetuses at 15 to 28 weeks' menstrual age.

Familial Williams-Beuren syndrome ascertained by screening rather than targeted diagnosis.

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 family with 'familial mental retardation.

Her2 amplification status in Iranian breast cancer patients: comparison of immunohistochemistry (IHC) and fluorescence in situ hybridisation (FISH).

Introduction: 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 clinical practice. The concordance rate between the two techniques is controversial.

Investigation of QF-PCR Application for Rapid Prenatal Diagnosis of Chromosomal Aneuploidies in Iranian Population.

Objective: 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 this purpose.

Normal ranges of fetal nasal bone length during the second trimester in an Iranian population.

Objective: To provide a normal reference range for nasal bone length (NBL) during the second trimester of pregnancy in an Iranian population.

Methods: 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.

Human papillomavirus in saliva of patients with oral squamous cell carcinoma.

Objective: 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.

Study Design: The saliva sample of 22 patients with oral squamous cell carcinoma and 20 age-sex matched healthy controls were obtained. The presence of HPV 6, 11, 16, 18, 31, and 33 was evaluated by polymerase chain reaction (PCR).

Chromosomal radiosensitivity in patients with common variable immunodeficiency.

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.

Ataxia-telangiectasia in Iran: clinical and laboratory features of 104 patients.

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 of 104 patients with ataxia-telangiectasia (54 male, 50 female) with the age range of 1.6-23.