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Objective: To assess the indications for termination of pregnancy (TOP) in pregnant patients who were followed up with suspicion of fetal anomaly in a Turkish tertiary referral center. Material and Methods: This retrospective study was carried out in patients who were followed up with suspicion of fetal anomaly between May 2016 and May 2019 at the Perinatology Clinic of Obstetrics and Gynecology Department in Pamukkale University Hospital, which is a tertiary hospital in Denizli province in Turkey. Women were divided into two depending on gestational period: group 1 ≤22 weeks; and group 2 (>23 weeks of gestation). Results: Four hundred and seventeen pregnant women were evaluated and TOP was performed at a mean gestational age of 27.7±6.3 weeks. There were 308 (73.8%) women in group 1 and 109 (26.2%) in group 2. The decision to terminate pregnancy was due to fetal anomaly in 117 (28.1%). The majority of termination pregnancies in group 2 were performed because of multiple malformations and/or central nervous system defects. All chromosomal diseases were detected in group 1. Conclusion: With a good perinatal screening program, fetal anomalies can be diagnosed early. Therefore, early TOP is possible. Thus, pregnancy termination can be made before reaching the life limit. [ABSTRACT FROM AUTHOR]

Objective: The Turkish Society of Pediatric Hematology set up a National Hemoglobinopathy Registry to demonstrate the demographic and disease characteristics of patients and assess the efficacy of a hemoglobinopathy control program (HCP) over 10 years in Turkey. Materials and Methods: A total of 2046 patients from 27 thalassemia centers were registered, of which 1988 were eligible for analysis. This cohort mainly comprised patients with β-thalassemia major (n=1658, 83.4%) and intermedia (n=215, 10.8%). Results: The majority of patients were from the coastal areas of Turkey. The high number of patients in Southeastern Anatolia was due to that area having the highest rates of consanguineous marriage and fertility. The most common 11 mutations represented 90% of all β-thalassemia alleles and 47% of those were IVS1-110(G->A) mutations. The probability of undergoing splenectomy within the first 10 years of life was 20%, a rate unchanged since the 1980s. Iron chelators were administered as monotherapy regimens in 95% of patients and deferasirox was prescribed in 81.3% of those cases. Deferasirox administration was the highest (93.6%) in patients aged <10 years. Of the thalassemia major patients, 5.8% had match-related hemopoietic stem cell transplantation with a success rate of 77%. Cardiac disease was detected as a major cause of death and did not show a decreasing trend in 5-year cohorts since 1999. Conclusion: While the HCP has been implemented since 2003, the affected births have shown a consistent decrease only after 2009, being at lowest 34 cases per year. This program failure resulted from a lack of premarital screening in the majority of cases. Additional problems were unawareness of the risk and misinformation of the at-risk couples. In addition, prenatal diagnosis was either not offered to or was not accepted by the at-risk families. This study indicated that a continuous effort is needed for optimizing the management of thalassemia and the development of strategies is essential for further achievements in the HCP in Turkey. [ABSTRACT FROM AUTHOR]

Introductıon: Congenital diaphragmatic hernia (CDH) is a rare abnormality with high mortality and long-term comorbid conditions. Our aim, in this paper, was to describe demographics and birth characteristics, treatment, and outcomes of consecutive patients with CDH treated at our institution. Methods: The present study represents a retrospective cohort study of neonates with CDH who were treated at Uludag University Medical Faculty, Neonatal intensive care unit, Bursa. We identified the medical records of all patients with CDH who were admitted for treatment to our neonatal intensive care unit from January 2007 to December 2016. We reviewed the medical, surgical records, demographics and birth characteristics. We also recorded presence of pulmonary hypertension, whether or not the liver and, stomach also herniated into the thorax, other associated congenital malformations, and type of mechanical ventilation. Results: Forty patients were included in this study. The overall mortality was 67.5% (27/40). Survival for those who had surgical correction of CDH was 61% (13/21). Low birth weight, low gestational age, low APGAR scores and, high oxygen need at baseline was found to be associated with mortality, in patients with CDH. Among survivors, the median duration of hospitalization was 23 (14--35) days. Chronic gastrointestinal, pulmonary disorders and, failure to thrive were the most comorbid conditions after discharge. Dıscussıon And Conclusıon: KDH still has high mortality and morbidity. The birth of patients with prenatal diagnosis at appropriate centers will increase their chances of successful intervention. [ABSTRACT FROM AUTHOR]

Objective: Although the calculated carrier frequency for point mutations of the β-globin gene is around 10% for Antalya Province, nothing is known about the profile of large deletional mutations involving the β-globin gene. In this study, we aimed to screen common deletional mutations in the β-globin gene cluster in patients for whom direct DNA sequencing was not able to demonstrate the mutation(s) responsible for the disease phenotype. Materials and Methods: Thirty-one index cases selected with a series of selection events among 60 cases without detected β-globin gene mutation from 580 thalassemia-related cases tested by direct sequencing over the last 4 years in our diagnostic center were screened for the most common 8 different large deletional mutations of the β-globin gene cluster by gap-PCR. Results: We detected 1 homozygous and 9 heterozygous novel unrelated cases for the Turkish inversion/deletion (δβ)0 mutation in our series of 31 cases. Our study showed that the Turkish inversion/ deletion (δβ)0 mutation per se accounts for 16.6% of the unidentified causative alleles and also accounts for 1.5% of all detected mutations over the last 4 years in our laboratory. Conclusion: Since molecular diagnosis of deletional mutations in the β-globin gene cluster warrants different approaches, it deserves special attention in order to provide prenatal diagnosis and prevention opportunities to the families involved. We conclude that the Turkish inversion/deletion (δβ)0, as the most prevalent deletional mutation detected so far, has to be routinely tested for in Antalya, and the gap- PCR approach has valuable diagnostic potential in the patients at risk. [ABSTRACT FROM AUTHOR]

Background: Abnormal haemoglobins (Hb) and thalassaemias are some of the most frequently observed hereditary disorders in the world, but especially in the Mediterranean region where Turkey is located. Hatay province is one of the largest provinces in the region, suggested as a target area to be selected for preventive programs after studies by three Turkish universities, i.e. Çukurova, Akdeniz and Hacettepe Universities in Turkey. Aims: The aim of this study was to determine demographic and family characteristics of all haemoglobinopathy carrier married couples registered in the Hatay Provincial Health Directorate registry and to educate the target population about pregnancy, births, prenatal diagnosis and genetic counselling with the particularly emphasised scope of eliminating all haemoglobinopathic births. Study design: Descriptive cross-sectional and intervention study. Methods: 1065 couples both being haemoglobinopathic carriers, registered in the Hatay Provincial Health Directorate registry were investigated for socio- demographic characteristics, obstetrical status and especially for a present pregnancy, the presence of any haemoglobinopathic patients or carrier children in the family. Results: Among women with a history of pregnancy, 47.3% reported that they had never had any prenatal testing, while 33.1% had got received testing in each of their pregnancies. The most frequent reason for not having the test was declared as unawareness of the test (66.0%), followed by economic insufficiencies (17.1%), destiny/religious reasons (9.1%) and family interference (7.8%). After a series of descriptive analyses, the results of the final binary logistic regression model constructed to find out the risk factors significantly affecting the presence of a sick child in the family were grouped as risk increasing factors like age (95%CI between 1.002 and 1.122), marriage before 1994 (95%CI=1.081-4.161), and risk decreasing factors like family willingness for screening (95%CI=0.167-0.854), rate of prenatal testing (95%CI=0.147-0.414), age at first pregnancy (95%CI=0.469-0.882); while the frequency of births was found to have no significant effect (p>0.05). Conclusion: Besides all legal regulations and applications, time is still needed for real success against such a diffuse and congenially transferred disease. The education of the target populations appears to be crucial. Official applications should be forced based upon present or future laws. [ABSTRACT FROM AUTHOR]