Experiences of infertile women seeking assisted pregnancy in Iran: a qualitative study

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. This qualitative study was conducted based on a content analysis approach. With purposive sampling, 12 pregnant women who were using ART were recruited from Avicenna Fertility Center in Tehran. Women were selected purposefully and with maximum variation. Interviews were performed after a positive test of pregnancy and women were introduced to researchers in their first visit of pregnancy in the prenatal clinic. Interviews were recorded, transcribed verbatim and analyzed concurrently. Semi-structured interviews were coded, categorized and the themes were also identified. Four main themes were uncovered which included struggle to achieve pregnancy, fear and uncertainty, escape from stigma and the pursuit to achieve husband satisfaction. It is essential for these women to be counseled and prepared by their health care providers after the use of ARTs. Distress can be reduced for infertile women seeking assisted pregnancy when they are prepared for possible failures, empowered to deal with stigma, and have their partners' involvement in counseling sessions

Investigation of QF-PCR application for rapid prenatal diagnosis of chromosomal aneuploidies in Iranian population

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. Heterozygosity of short tandem repeat [STR] markers which leads to informativity is the most critical requirement for feasibility of QF-PCR. In this study we analyzed several short tandem repeats on chromosomes 13, 18, 21, X and Y on amniotic fluid samples obtained from PND candidates to diagnose conditions such as Down, Edward and Patau syndromes and also numerical sex chromosome abnormalities such as Klinefelter and Turner syndromes. Most of the analyzed STRs had acceptable heterozygosity [66.3-94.7] to be used in QF-PCR based prenatal diagnosis. Moreover, results obtained from both methods [standard karyotype and QF-PCR] for all samples were in accordance with each other. In case of using appropriate STR markers, and in certain clinical indications, QF-PCR could be used as useful technique for prenatal diagnosis even in consanguine populations such as Iranians

Is karyotyping and Y chromosome microdeletion study necessary in men candidate for ICSI?

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. In this study, we tried to determine the frequency of karyotype abnormalities and Y chromosome microdeletions in severe oligospermic or azoospermic men who fathered sons by ICSI. This study comprised of fathers who had at least a son with ICSI due to severe oligospermia or azoospermia. General examinations were done and blood sample were obtained for karyotype and Y chromosome studies. The total of 60 fathers was evaluated along with their 70 sons. The mean duration of infertility was 8.7 years and the sons were 2.4 years in average at the time of examination. The mean age of neonates at the time of delivery was 33 weeks; 42.9% were delivered prematurely; and 40.5% of them were twins. 8.6% of the sons had hypspadiasis and 7.1% had UDT. Most of the side effects were due to prematurity. In total 6 of fathers had karyotype anomaly without affected father. No case of Y chromosome microdeltion was found in the fathers. Y chromosome microdeletion is not prevalent in fathers with successful ICSI and it is not necessary to be analyzed before ICSI performance. Karyotype anomaly may transmit to the sons. All together ICSI is reliable and safe. Most of the complications are the result of premature delivery

Microdeletion study in children with selective congenital heart disease; an Iranian multicenter study

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. One-hundred and eighty cases [106 Males, 74 Females] with selective congenital heart disease [conotruncal abnormalities] referred to the hospitals affiliated to Tehran University during 2004-2007 were evaluated by pediatric cardiologists. All patients were assessed for chromosome 22q11.2 microdeletion using FISH technique. Consequently, patients with 22q microdeletion were studied for T cell abnormalities. Median age of the patients at the time of study was 18 months [3d-16y]. The microdeletion of chromosome 22q11.2 was detected in 17 [9.5%] patients with conotruncal abnormalities, including 5 [29.4%] Tetralogy of Fallot plus Supravalvular Pulmonary Stenosis, 4 [23%] Truncus Arteriosus, 5 [29.4%] Pulmonary Artesia with Ventricular Septal Defect, 2 [11.8%] CO AO+Intrrupted Aortic Arch and one case of Valvular Pulmonary Stenosis. Five of uncorrelated cases had crananiofacial dysmorphism. Chromosome 22q11.2 microdeletion FISH study should be considered in patients with cardiac lesions particularly conotruncal abnormality with or without syndromic problems [craniofacial dysmorphism and developmental delay] to provide an appropriate genetic counseling with more accurate estimation of recurrence risk and ultimately prenatal diagnosis in affected families