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Background: The purpose of the study was to evaluate the use of contingent prenatal screening for the detection of Down's syndrome and neural tube defects (NTDs) in west of Iran. Methods: A prospective study was conducted on 653 pregnant women referred to a medical diagnostic laboratory (Imam Reza Clinic, Kermanshah, Iran) for contingent prenatal screening tests between October 2016 to September 2017. Results: Among 651 women screened in the first trimester, 8 (1.22%) pregnancies were screen-positive for Down's syndrome. In the second trimester, among 605 women, 25 (4.13%) had a positive result and all of these women voluntarily underwent amniocentesis. Overall, five pregnancies were complicated with chromosomal abnormalities, including five cases of Down's syndrome. Conclusion: In a nutshell, the contingent prenatal screening tests were found to be useful for estimation of Down's syndrome as well as NTDs in both young and older mothers in west of Iran. These tests should be performed for pregnant women before an invasive test for Down's syndrome. [ABSTRACT FROM AUTHOR]

Background: Antenatal anxiety or maternal stress is a prevalent chronic mental disorder in pregnant women. We have assessed the effect of maternal stress from positive aneuploidy screening results on the changes in uterine artery blood flow. Materials and Methods: We performed a prospective cohort (one sample) pilot study at a hospital in Tehran, Iran. A total of 60 pregnant women who were candidates for amniocentesis due to abnormal sequential screening test results entered the study. We conducted 2 standard psychological tests, the Spielberger's State-Trait Anxiety Inventory and the Beck Anxiety Inventory, to determine anxiety levels in the participants before amniocentesis and two weeks after amniocentesis. The uterine artery resistance index was also measured before and two weeks after amniocentesis. The level of maternal stress was compared with the uterine artery resistance index. Results: Patients had a mean State Trait Anxiety Inventory score before amniocentesis of greater than 40, which meant that the mothers experienced high anxiety. There were no correlations between both inventories' anxiety scores and uterine artery blood flow before amniocentesis. However, two weeks after amniocentesis, we observed significant negative correlations between the State Anxiety (P=0.0041) and Trait Anxiety (P=0.010) Inventory scores and the uterine artery resistance indexes. Also, there was an association between the decreased right uterine artery resistance index and State Anxiety scores (P=0.036). There were significant correlations between State and Trait Anxiety scores and second trimester analytes of β-human chorionic gonadotropin (β-hCG, P<0.001), α-fetoprotein (P<0.001), and unconjugated estriol (P=0.048). Conclusion: Maternal anxiety because of positive aneuploidy screening serum analytes and amniocentesis can affect perinatal outcomes via mood-based alterations in blood flow of the uterine arteries and the screening markers β-hCG,unconjugated estriol, and α-fetoprotein. [ABSTRACT FROM AUTHOR]

Objective To evaluate the repercussions of recent changes to the cut-offs used in the first screening step of the pre-marital screening programme for thalassaemia prevention in Iran. Methods The profiles of 984 subjects referred to a genetic laboratory, and the tests of 242 parents of children with thalassaemia major were assessed for red blood cell (RBC) indices, haemoglobin (Hb) A2 levels and results of Hb electrophoresis. Results Of 407 suspected thalassaemia minor (STM) cases, 18 proved positive for thalassaemia minor on molecular analysis (18/407, confidence interval 2.6–6.9%). If the revised screening cut-offs had been used to determine who would undergo molecular analysis, two of these cases would not have been identified. Only 4.4% of suspected cases with lower than normal RBC indices (mean corpuscular volume <80 fl and mean corpuscular Hb <27 pg) and HbA2 (<3.5%) were diagnosed with thalassaemia minor. Conclusion The thalassaemia major prevention programme is performed in two separate steps. One step involves the screening of subjects and identification of β-thalassaemia minor, suspected cases for thalassaemia minor (STM), and normal subject groups. The other step concerns the identification of thalassaemia minor in the STM group. Changing the cut-offs at the first screening step does not result in significant improvement from an economic view, and is associated with significant risk at the second screening step. [ABSTRACT FROM AUTHOR]

Deficiency of hypoxanthine-guanine phosphoribosyltransferase (HGPRT) is a rare inborn error of purine metabolism and is characterized by uric acid overproduction along with a variety of neurological manifestations that depend on a degree of the enzymatic deficiency. Inheritance of HPRT deficiency is X-linked recessive; thus, males are generally more affected and heterozygous females are carriers (usually asymptomatic). Human HPRT is encoded by a single structural gene on the long arm of the X chromosome at Xq26. More than 300 mutations in the HPRT1 gene have been detected. Diagnosis can be based on clinical and biochemical findings as well as enzymatic and molecular testing. Molecular diagnosis is the best way as it allows for faster and more accurate carrier and prenatal diagnosis. In this report, a new small duplication in the HPRT1 gene was found by sequencing, which has yet to be reported. [ABSTRACT FROM AUTHOR]

Our study aimed to determine the number of couples with normal hemoglobin (Hb) electrophoresis and low-borderline hematological values, which may come up with a clinically critical status in their offspring. The number of couples at risk for severe α-thalassemia (α-thal) needed to be estimated before recommending genetic counseling and prenatal diagnosis (PND). During the past 14 years, from at least 7000 referrals, 754 couples were investigated for α-thal by direct mutation detection methods followed by reverse strip assay and α-globin gene sequencing for inconclusive cases. Detection of silent β-thalassemia (β-thal) mutations was done in suspected cases by complete β-globin gene sequencing. We were able to provide a molecular diagnosis in 87.3% (658/754) of couples. A total of 9.1% (60/658) may have a clinically significant hemoglobinopathy in their offspring. Significant conditions included hydrops fetalis (20.0%; 12/60), certain Hb H (β4) genotypes (78.3%; 47/60) and β-thal intermedia (β-TI) (1.7%; 1/60). The diagnostic flowchart for couples with microcytic hypochromic anemia in countries with a high prevalence of hemoglobinopathies should include α and β gene sequencing. As our results indicate, every nine out of 100 of these couples will face significant hemoglobinopathies and every two out of 100 can carry Hb Bart's (γ4) hydrops fetalis in their pregnancies. For such cases, PND should be utilized to allow the carrier couples to decide whether or not to abort the fetus. [ABSTRACT FROM AUTHOR]

Objective: Vesicoureteral reflux (VUR) is an important disorder that could be diagnosed in antenatal or postnatal period. The natural history of VUR seems to be different between prenatal or postnatal forms of the disease. We compared the natural history and outcome of vesicoureteral reflux in infants less than one year old diagnosed prenatally or postnatally. Methods: All infants less than 12 months old with VUR were enrolled in two groups. Group 1 composed of patients with antenatal hydronephrosis and group2, infants with diagnosis of VUR because of UTI or other postnatal problems. We followed patients for an average of 33 months. Outcome was assessed by several factors: somatic growth, need for surgery, resolution, occurrence of UTI and scar formation. Findings: We studied 236 renal units in 152 patients (70 boys, 82girls), 67 patients in group 1 and 85 patients in group2. Occurrence of recurrent UTI was 10.6% with no significant difference between two groups. Reflux resolved in postnatal group more significantly than in the other group (73% vs 49%). Scar developed similarly in both groups (15% vs 25% of renal units). Surgery performed in 7 (8.2%) of postnatal and 4 (6%) of prenatal group with no significant differences between the two groups. Conclusion: VUR diagnosed prenatally has similar importance and outcome as postnatal diagnosed one. We suggest performing the same imaging and treatment procedures for prenatally and postnatally diagnosed VUR. [ABSTRACT FROM AUTHOR]

Background: A significant number of pregnancies are associated with the cytogenetic abnormalities of the fetus. Amniocentesis and chorionic villus sampling (CVS) are procedures used for prenatal genetic diagnosis. In this study, we compare the safety and complications of mid-trimester amniocentesis and transabdominal CVS. Materials and Methods: This analytic cross-sectional study was performed in 308 patients from 2.11.2007 to 26.10.2009. We had 155 cases of amniocentesis, which we performed in weeks 15-23 of pregnancy; and 153 cases of CVS, which we performed during weeks 10-14 of pregnancy. Results: There were 2 cases (1.2%) of premature rupture of membrane (PROM) in amniocentesis which occurred 1 and 10 days after the procedure and caused pregnancy loss before 20 weeks. We had 1 case (0.7%) of abortion in CVS, which occurred 10 days after the procedure. Additionally, there was 1 case of amniotic fluid leakage (0.7%) in which, after admission to the hospital and observation, leakage was stopped and the pregnancy continued normally. Conclusion: In this study, we had more complications with amniocentesis cases than CVS. CVS is a procedure performed in the earlier stages of pregnancy and its complications are less than amniocentesis. We suggest CVS to be the procedure of choice for genetic diagnosis. [ABSTRACT FROM AUTHOR]

Congenital adrenal hyperplasia (CAH) is characterized by impaired biosynthesis of cortisol. 21-hydroxylase deficiency is the most common cause of CAH affecting 1 in 10000-15000 live births over the world. The frequency of the disorder is very high in Iran due to frequent consanguineous marriages. Although biochemical tests are used to confirm the clinical diagnosis, molecular methods could help to define accurate diagnosis of the genetic defect. Recent molecular approaches such as polymerase chain reaction based methods could be used to detect carriers and identify different genotypes of the affected individuals in Iran which may cause variable degrees of clinical expression of the condition. Molecular tests are also applied for prenatal diagnosis, and genetic counseling of the affected families. Here, we are willing to delineate mechanisms underlying the disease, genetic causes of CAH, genetic approaches being used in the country and recommendations for health care improvement on the basis of the molecular and clinical genetics to control and diminish such a high prevalent disorder in Iran. Also, the previous studies on CAH in Iran are gathered and a diagnostic algorithm for the genetic causes is proposed. [ABSTRACT FROM AUTHOR]

Objective: Prenatal diagnosis of β-thalassemia carrier couples has helped to prevent bearing affected children. Among 177 couples referred to our laboratory for prenatal diagnosis, 14 mothers had twin pregnancies. Methods: By using direct and indirect methods, we determined their mutations and linkage analysis using polymorphic markers (restriction fragment length polymorphism [RFLP]). Results: It was shown that in five families both fetuses were heterozygote carriers. In another five families, one fetus was normal and the other one was carrier. In two families, one fetus was affected and the other one was heterozygous carrier; in one case one fetus was affected and the other one was homozygote normal. In the last family both fetuses were homozygote normal. If all fetuses were fraternal then one would expect to see seven homozygote normal and the same number affected, and 14 carriers. Conclusion: Our results indicated that at least in cases where both fetuses had identical genotypes, then they may be identical twins. Molecular testing indeed showed that in three cases the twins were identical. Another point is that in three cases, one of the twin fetuses was affected and the other one was either normal or heterozygote in which only the affected fetuses were aborted by the specialist. [ABSTRACT FROM AUTHOR]