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Background & aim: Sacrococcygeal teratoma (SCT) is one of the most common neoplasms diagnosed during pregnancy. Sacrococcygeal teratoma is classified into four types according to the location of the lesion. Type 4 tumors are usually diagnosed in the postpartum period and have a higher potential for malignancy. The aim of the present study was to report a case of prenatal diagnosis of sacrococcygeal teratoma. Case report: The patient was a forty-year-old woman with her second pregnancy, who had a cystic lesion in the fetal abdomen without any symptoms in the routine screening ultrasound of the second trimester, and was referred to our center due to this lesion at the gestational age of 21 weeks and 5 days. In the ultrasound performed in this center, a lesion with dimensions (39.5 x 14.3 x 8.62 mm) was detected in the fetal pelvis in front of the sacrum, tumor growth and fetal heart failure were followed up with serial ultrasound. A caesarean section was performed at the 39th week of pregnancy due to the previous caesarean section of the mother, and the baby's surgery was successfully performed 72 hours after birth. The answer to the pathology of adult cystic teratoma was reported and follow-ups of the control indicated the normal and healthy growth of the child. The early diagnosis and monitoring and treatment of the disease were done by using Prenatal ultrasound evaluation. Conclusion: Prenatal ultrasound evaluation was important in both diagnosis and monitoring of tumor growth in order to detect perinatal complications such as heart failure and fetal hydrops. These prenatal assessments can lead to accurate diagnosis and appropriate treatment.

Background & aim: Beta thalassemia is one of the most common hereditary diseases in Iran. The birth of a child with thalassemia causes many social and economic problems for parents and the health care system. Nowadays, prenatal screening programs to detect beta thalassemia have received much attention in the country. The aim of the present study was the determination and sampling of chorionic villi for the diagnosis of beta-thalassemia major in the first trimester of pregnancy in south-western Iran. Methods: The present descriptive-prospective and practical study was conducted in 2021 on couples suffering from thalassemia minor and referred to the Narges Genetics Laboratory in Ahwaz, Iran. For preventive measures, blood samples were taken from volunteers. At that point, the couples who had HbA2 above 3.5 and were in the 10th to 13th week of pregnancy continued the treatment by performing chorionic villus sampling in order to evaluate the health of the fetus. Chorionic villus sampling was performed under local anesthesia with a needle from the abdominal area of pregnant women, and about 5-10 cc of placental trophoblast villi were collected. The collected data were analyzed using t-test and chi-square statistical tests. Results: A total of 91 pregnant women underwent chorionic villus sampling. Thirty-eight individuals (41.8%) had thalassemia minor, 25 individuals (27.5%) had thalassemia major, the familial relationship between couples was also examined, and there was no significant association between the familial relationship and occurrence of thalassemia major. 20 people (30%) had a child with thalassemia major and 60 people (66%) had a child with thalassemia minor. Fetuses with thalassemia major in mothers with blood type A+, 38 subjects (42%) and O+ 35 subjects (38.4%), the prevalence of thalassemia major was higher in the Fars subjects, the highest in 39 subjects (42.8%), and the lowest was the Kurdish people with one person (1 percent). Conclusion: The technique of chorionic villus sampling is an accurate method with no significant risk to both mother and fetus. This method can be used to diagnose beta thalassemia before birth.

Introduction: Thalassemia is a genetic disease with an autosomal recessive pattern. Prenatal diagnosis (PND) and termination of pregnancy in the case of fetus infection is the best way to prevent this disease. This study was performed with aim to evaluate the incidence rate and causes of new cases of major β-thalassemia (MBT) after implementing the national prevention program in Kerman University of Medical Sciences. Methods: This was descriptive and analytical study on health system research. Information of patients (Date of birth, status of other siblings) and carrier couples (year of marriage, kinship relationship, performing screening at the time of marriage, history of surveillance, and causes of the birth of beta-thalassemia patient) was obtained from the data available in the Health Department of Kerman Universities of Medical Sciences from 2011 to 2019. Data were analyzed by SPSS (Version 24) using Fisher's exact test. Results: The 9-year incidence rate in the whole region was 0.55 per 10,000 live births. The success rate of the program in the whole region was 84.37%. Fifteen patients were born between 2011 and 2019. The most important cause of MBT incidence was the lack of identification of thalassemia couples and their lack of awareness about their condition (46.6%). Nine (60%) of the patients' parents had consanguineous marriages. There was no statistically significant relationship between causes of new cases of MBT and the level of education and occupation of the patients' parents (P>0.05). Conclusion: Although the implementation of the prevention program has significantly reduced the number of new cases of MBT, appropriate planning to improve the quality of counseling services and carrier couples care and increase the level of awareness and change the attitude of target groups to eliminate the incidence of the disease is necessary.

Background & aim: Beta thalassemia is one of the most common hereditary diseases in Iran. The birth of a child with thalassemia causes many social and economic problems for parents and the health care system. Nowadays, prenatal screening programs to detect beta thalassemia have received much attention in the country. The aim of the present study was the determination and sampling of chorionic villi for the diagnosis of beta-thalassemia major in the first trimester of pregnancy in south-western Iran. Methods: The present descriptive-prospective and practical study was conducted in 2021 on couples suffering from thalassemia minor and referred to the Narges Genetics Laboratory in Ahwaz, Iran. For preventive measures, blood samples were taken from volunteers. At that point, the couples who had HbA2 above 3.5 and were in the 10th to 13th week of pregnancy continued the treatment by performing chorionic villus sampling in order to evaluate the health of the fetus. Chorionic villus sampling was performed under local anesthesia with a needle from the abdominal area of pregnant women, and about 5-10 cc of placental trophoblast villi were collected. The collected data were analyzed using t-test and chi-square statistical tests. Results: A total of 91 pregnant women underwent chorionic villus sampling. Thirty-eight individuals (41.8%) had thalassemia minor, 25 individuals (27.5%) had thalassemia major, the familial relationship between couples was also examined, and there was no significant association between the familial relationship and occurrence of thalassemia major. 20 people (30%) had a child with thalassemia major and 60 people (66%) had a child with thalassemia minor. Fetuses with thalassemia major in mothers with blood type A+, 38 subjects (42%) and O+ 35 subjects (38.4%), the prevalence of thalassemia major was higher in the Fars subjects, the highest in 39 subjects (42.8%), and the lowest was the Kurdish people with one person (1 percent). Conclusion: The technique of chorionic villus sampling is an accurate method with no significant risk to both mother and fetus. This method can be used to diagnose beta thalassemia before birth.

Background and Objectives Thalassemia is the most common monogenic disease worldwide inherited in autosomal recessive manner. Beta-thalassemia is caused by mutations in beta-globin gene. It is characterized by reduction in red blood cell indices including low MCV, low MCH, high RBC count, low HbA1 and high HbA2. Considering these symptoms, finding a relation between erythrocyte indices and kind of mutations can be used as a rapid method in mutation diagnosis and initial screening of carriers. Materials and Methods In this descriptive-analytical study after DNA extraction from 200 beta- thalassemia minors in Khuzestan province by salting out method, we amplified and sequenced beta-globin gene by Sanger sequencing. Finally, we analyzed statistically the beta-globin gene mutations and erythrocyte indices association by SPSS. Results Our results showed that IVSII-1(G > A) is the most common mutation with 22.5% frequency in this population of beta-thalassemia carriers. We found that MCV index variations have a meaningful association with beta-globin gene mutations and the highest mean of MCV (65.4 ± 3.7) was observed in IVSI-110(G > A) mutation. Conclusions The results comply with many other studies performed in this field and can be used for rapid detection of mutation in carrier parents and prenatal diagnosis. [ABSTRACT FROM AUTHOR]

Introduction: Aneuploidies are of the most important fetal abnormalities. Diagnostic value and efficacy of NIPT assay in the groups with abnormal results for first trimester combined screening test is not well defined. Therefore, this study was performed aimed to survey the sensitivity and specificity of NIPT for aneuploidies diagnosis in women with moderate risk for trisomy at first trimester combined screening test. Methods: This prospective cohort study was performed in 2017-2018 on 447 women with singleton pregnancy and gestational age of 11 to 13 weeks and 6 days who had moderate risk for trisomy. NIPT analysis was done in all women with moderate risk (1/250 to 1/1500) and was compared with the results from karyotype and phenotype analysis in neonates. NIPT diagnostic accuracy for chromosomal abnormalities was calculated. Data were analyzed using SPSS statistical software (version 22). Results: Two cases with trisomy 21 (0.06%) and one case with trisomy 18 (0.03%) were diagnosed. These three cases were confirmed with amniocentesis and the pregnancy was ended. The neonates' analysis showed normal phenotype results in all of them and NIPT diagnostic accuracy for trisomy 21 and 18 was calculated 100%. Conclusion: In addition to maintain combined screening test benefits, using NIPT is accompanied by high diagnostic accuracy for fetal chromosomal abnormalities assessment.

Introduction: Phenylketonuria (PKU) is the most common inherited metabolic disease in Iran that can be prevented by prenatal diagnostic tests (PND). This study was performed aimed to determine the incidence of PKU and the effect of implementing a prevention program on reducing its incidence in the population covered by Kerman University of Medical Sciences. Methods: This was a descriptive study on health system research. All PKU carrier couples and patients covered by Kerman University of Medical Sciences in 2019 were studied. Data were obtained from the national form of epidemiological study of genetic diseases and genetic surveillance form from the Deputy Minister of Health. Frequency tables and graphs were used to describe the information. Results: In this study, 68 patients and 63 carrier couples were covered and 37 (60.6%) carrier couples were at risk of having a sick child and all of them were under the care of health care centers. For 91.9% of them and 61.9% high-risk relatives, the type of gene mutation was determined. PND tests were performed on 28 (87.5%) pregnant women. Seven affected fetuses were diagnosed, all of which were aborted with parental consent. 32 high-risk couples (86.5%) used safe method of contraception. The 13-year incidence of PKU in the whole region was 1.13 and the expected incidence was 1.36 per 10,000 live births. Conclusion: Implementation of prevention program had an effect on reducing the incidence of PKU. The high frequency of consanguineous marriages can affect the high incidence of PKU. It is necessary to identify the patient's relatives who are at risk of having a sick child (consanguineous marriage), refer them to a genetic counseling center and determining their status can be effective in reducing the incidence of the disease.