Prenatalna identifikacija izolirane aberantne potključne arterije: je li potrebna daljnja genetska obrada?

The objective of this study was to evaluate the association between aberrant right subclavian artery (ARSA) and chromosomal abnormalities. The study included 5211 women having attended our unit for fetal anatomic screening and fetal echocardiography from August 2016 until February 2019. After diagnosing ARSA, prenatal invasive testing was discussed with the patients. ARSA affected fetus was determined in 57 cases; of these, there were 38 cases of isolated ARSA and 19 cases of non-isolated ARSA but associated with soft markers and fetal anomalies. Nineteen patients underwent amniocentesis; Down syndrome was determined in two women, both of them from the non-isolated ARSA group, with fetal hydrops, atrioventricular septal defect and esophageal atresia. Fifteen of 38 patients who declined prenatal diagnostic testing, accepted karyotype analysis after delivery and none of these 15 cases had chromosomal abnormalities. Identification of ARSA should be followed by detailed ultrasound examination to ensure that there are no accompanying soft markers and/or structural defects. Isolated ARSA may not be an indication for karyotype analysis or 22q11.2 microdeletions. Non-ARSA implies a strong predictor of aneuploidy, and when additional findings are detected, invasive testing should be offered to the parents. The association between isolated ARSA and genetic disease should be evaluated in large powered prospective studies.Cilj ovoga istraživanja bio je procijeniti udruženost aberantne desne potključne arterije (ADPA) i poremećaja kromosoma. Istraživanje je obuhvatilo 5211 žena koje su posjetile našu jedinicu za anatomski probir i fetalnu ehokardiografiju od kolovoza 2016. do veljače 2019. godine. Nakon što je dijagnosticirana ADPA sa ženama se razgovaralo o prenatalnom invazivnom testiranju. Fetalna ADPA utvrđena je u 57 slučajeva, uključujući 38 slučajeva izolirane ADPA i 19 slučajeva ne-izolirane ADPA, ali udružene s „mekim“ biljezima i fetalnim anomalijama. Devetnaest žena podvrgnuto je amniocentezi. Downov sindrom utvrđen je kod dvije žene, obje iz skupine s ne-izoliranom ADPA, s fetalnim hidropsom, atrioventrikulskim septalnim defektom i atrezijom jednjaka. Petnaest od 38 žena koje su odbile prenatalno dijagnostičko testiranje prihvatilo je analizu kariotipa nakon porođaja i nijedna od njih nije imala kromosomne poremećaje. Nakon identificiranja ADPA treba uslijediti podroban ultrazvučni pregled kako bismo bili sigurni da ne postoje prateći „meki“ biljezi i/ili strukturni defekti. Izolirana ADPA ne mora biti indikacija za analizu kariotipa ili mikrodelecije 22q11.2. Ne-ADPA snažno upućuje na aneuploidiju, a kad se dobiju dodatni nalazi tada treba roditeljima ponuditi invazivno testiranje. Udruženost izolirane ADPA i genetske bolesti treba procijeniti u velikim i valjanim prospektivnim studijama

A case of Roberts syndrome: its ultrasonographic characteristics and genetic diagnosis

Objective: Roberts syndrome is a very rare genetic disease, and it has an autosomal recessive inheritance pattern. It develops as a result of the mutation in ESCO2 gene located in the 8th chromosome. In our study, we aimed to present a case which was found to have Roberts syndrome coexisting with multiple anomalies, particularly skeletal system anomaly, in the 17 weeks of gestation. Case(s): In the fetal ultrasonographic evaluation performed on the pregnant women who referred to our hospital for routine gestational examination in the 17 weeks of gestation, anomalies in the bilateral upper and lower extremities, contracted legs, bilateral cleft palate and lip, intrauterine growth restriction and cardiac anomaly were found in the fetus. Roberts syndrome was considered first with these ultrasonographic findings. The diagnosis of Roberts syndrome was confirmed by cytogenetic and molecular analyses. Early segregation of centromeres and early breaking up of heterochromatic regions near centromeres were found at metaphase stage. By cytogenetic and molecular analyses, homozygous mutation in ESCO2 gene of the fetus and heterozygous mutation in the parents were found. The termination of pregnancy was decided after the genetic consultation with the parents. Physical examination findings and prenatal ultrasound findings after termination were found similar. Conclusion: Many severe skeletal dysplasia cases can be diagnosed ultrasonographically before 20 weeks of gestation. Early diagnosis ensures to take necessary actions for medical support during postnatal period and in terms of labor if pregnancy continues as well as genetic consultation opportunity. If the genetic disease that causes skeletal dysplasia can be identified and parents are found to have this gene, healthy pregnancies can be achieved by obtaining normal embryos via pre-implantation genetic diagnosis in order to prevent the relapse of the disease

ANXIETY AND POST-TRAUMATIC STRESS DISORDER SYMPTOMS IN PREGNANT WOMEN DURING THE COVID-19 PANDEMIC’S DELAY PHASE

Background: The Coronavirus disease 2019 (COVID-19) pandemic emerged in Wuhan, China and has spread all over the world and affected global mental health. Pregnant women may be particularly vulnerable and experience high levels of distress during an infectious disease outbreak. The aim of this study was to determine anxiety and post-traumatic stress disorder (PTSD) symptoms in pregnant women during the COVID-19 pandemic. Subjects and methods:This cross-sectional study surveyed a total of 283 pregnant women within the period of May 11 to May 28,2020. During their regular antenatal visit, pregnant women were invited to participate in the study. The self-created personal information form was used to assess the main characteristics of the participants. Anxiety and PTSD symptoms of the pregnant women were measured by the Spielberger State-Trait Anxiety Inventory (STAI) and Impact of Events Scale-Revised (IES-R), respectively. Results: The mean age of the pregnant women was 29.20±5.55 years. Regarding gestational age, 72 (25.4%), 86 (30.4) and 125 (44.2) were in the first, second and third trimesters, respectively. The mean gestational age was 23.82±11.05 weeks. The mean STAIS and STAI-T scores were 39.52±10.56 within the cut-off value (39-40) of the instrument and 42.74±8.33, respectively. Furthermore, the mean total IES-R score was 36.60±15.65 within the cut-off value (24) of the instrument. Multiple regression analysis revealed that pregnancy complication (p=0.01) and employment status of husband (p=0.04) were the best predictors of state anxiety. Additionally, the presence of COVID-19-related symptoms (p=0.01) and educational level (p=0.01) were found to predict PTSD symptoms. Conclusions: Pregnant women would be likely to experience high levels of anxiety and PTSD symptoms during the COVID-19 pandemic’s delay phase. The results should sensitize the medical team to increased anxiety and PTDS symptoms of the pregnant women in order to prevent negative outcomes for women and their fetuses

The association of the amniotic fluid index (AFI) with perinatal fetal and maternal outcomes in pregnancies complicated by preterm premature rupture of membranes (PPROM)

Objectives: To investigate association of amniotic fluid index (AFI) with perinatal fetal and maternal outcomes in pregnancies complicated by preterm premature rupture of membranes (PPROM) Material and methods: A total of 70 singleton pregnancies complicated by PPROM at 23–33 weeks’ gestation were enrolled in this prospective observational study. Data on maternal clinical and obstetric characteristics [maternal age, gravidity, parity, PPROM time, and AFI (cm), latency period, treatments, type of delivery, length of hospital stay (LOS, day)], fetal characteristics (gestational age at delivery, birth weight (g), gender) and maternal and fetal complications were recorded and compared in AFI < 5 cm (n = 27) and AFI ≥ 5 cm (n = 21) groups. Results: Overall AFI was ≤ 5 cm in 27 (56.3%) patients and > 5 cm in 21 (43.7%) patients. No significant difference was noted in maternal clinical and obstetric characteristics, gestational age at delivery and gender of the newborn as well as in maternal and fetal complications rates with respect to AFI groups. AFI was correlated positively with latency period (r = 0.399, p = 0.018) and negatively with postpartum LOS (r = –0.314, p = 0.030). Conclusions: In conclusion, our findings seems to indicate increased likelihood of shorter latency to delivery and longer postpartum LOS with decrease in AFI after PPROM between 23–33 weeks’ gestation, whereas no impact of AFI on mode of delivery and fetal or maternal complications

Prenatal Genetic Diagnostic Test Outcomes in Van Province and Nearby Cities in Eastern Turkey

Aim: The aim of this study is to retrospectively evaluate the indications and karyotype resultsof amniocentesis and chorion villus sampling performed in Health Sciences University, VanEducation and Research Hospital, Department of Perinatology.Material and Methods: In this study, 157 patients who underwent amniocentesis and 58patients who performed chorion villus sampling procedure for different indications in ourperinatology clinic between March 2017 and March 2019 were evaluated retrospectively. Aspinal needle of 22-Gauge for amniocentesis procedure and a 20-Gauge spinal needle forchorionic villus sampling were used.Results: Genetic abnormality was detected in 14.6% of amniocentesis (n=23) and 34.5% ofchorion villus sampling cases (n=20). Twenty (87.0%) of the chromosomal anomalies detectedin amniocentesis and 18 (90.0%) of the anomalies detected in chorionic villus sampling werenumerical anomalies. The most common chromosomal anomaly of these numerical anomalieswas trisomy 21. The most common indication for patients who underwent amniocentesis andchorionic villus sampling was abnormal ultrasound findings, followed by high risk in triple orquadruple test.Conclusion: Amniocentesis and chorion villus sampling are commonly performed invasivetests for prenatal diagnosis of genetic diseases. The indications of amniocentesis and chorionvillus sampling procedures and the rate of genetic anomaly detected as a result of geneticanalysis applied to these samples in our clinic were compatible with literature. It is thoughtthat this study will contribute to the literature since this is the first study that evaluates theresults of amniocentesis and chorion villus sampling in Van and nearby cities

Prenatal Genetic Diagnostic Test Outcomes in Van Province and Nearby Cities in Eastern Turkey

Aim: The aim of this study is to retrospectively evaluate the indications and karyotype resultsof amniocentesis and chorion villus sampling performed in Health Sciences University, VanEducation and Research Hospital, Department of Perinatology.Material and Methods: In this study, 157 patients who underwent amniocentesis and 58patients who performed chorion villus sampling procedure for different indications in ourperinatology clinic between March 2017 and March 2019 were evaluated retrospectively. Aspinal needle of 22-Gauge for amniocentesis procedure and a 20-Gauge spinal needle forchorionic villus sampling were used.Results: Genetic abnormality was detected in 14.6% of amniocentesis (n=23) and 34.5% ofchorion villus sampling cases (n=20). Twenty (87.0%) of the chromosomal anomalies detectedin amniocentesis and 18 (90.0%) of the anomalies detected in chorionic villus sampling werenumerical anomalies. The most common chromosomal anomaly of these numerical anomalieswas trisomy 21. The most common indication for patients who underwent amniocentesis andchorionic villus sampling was abnormal ultrasound findings, followed by high risk in triple orquadruple test.Conclusion: Amniocentesis and chorion villus sampling are commonly performed invasivetests for prenatal diagnosis of genetic diseases. The indications of amniocentesis and chorionvillus sampling procedures and the rate of genetic anomaly detected as a result of geneticanalysis applied to these samples in our clinic were compatible with literature. It is thoughtthat this study will contribute to the literature since this is the first study that evaluates theresults of amniocentesis and chorion villus sampling in Van and nearby cities

Evaluation of interventricular septum movements in structurally normal foetuses during second and third trimester of pregnancy: A prospective observational study

Foetal cardiac assessment is a standard part of antepartum obstetric ultrasound evaluation. Heart examination, including four-chamber view and outflow tract views, should be routinely performed for all women as recommended by The International Society of Ultrasound in Obstetrics and Gynaecology (ISUOG). Although the anatomical survey of foetal heart is well-defined, current knowledge on myocardial contractility is scarce. The aim of our study was to investigate the interventricular septum (IVS) shortening in normal foetuses. Interventricular septum length and thickness were assessed by re-evaluation of 3-dimensional spatiotemporal image correlation (STIC) acquisition planes in second and third trimesters of pregnancy in otherwise structurally normal foetuses. Twenty-one foetuses were included to the study. Mean gestational age at second and third trimester investigations were 24.4 (±1.6) and 31.3 (±2), respectively. Systolic and diastolic IVS length and thickness were significantly correlated with the gestational age. Interventricular septum shortening and thickening indexes were not different between second and third trimesters. Foetal cardiac contractility is a subject that recently gained attention. The current study revealed that interventricular septum shortening and thickening was relatively stable during second and third trimesters of pregnancy

The Role of Ceruloplasmin in Neurodegeneration in Parkinson's Disease

WOS: 000377538300005Objective: Oxidative stress has been implicated to play a major role in the neuronal cell death in idiopathic Parkinson's disease (IPD). Ceruloplasmin is a ferroxidase that oxidizes toxic ferrous iron to its nontoxic ferric form and thus helps prevent oxidative damage to proteins, lipids, and DNA. The aim of this study was to determine the serum ceruloplasmin levels in patients with IPD and evaluate its role in neurodegeneration using hydrogen proton magnetic resonance spectroscopic imaging (H-1 MRSI). Materials and Methods: Twenty-three patients with the IPD and 12 healthy controls were studied using single-voxel H-1 MRSI of the bilateral putamen. The peak ratios of N-acetyl aspartate (NAA) to creatinine (Cr) and choline (Cho) were measured in both groups and serum ceruloplasmin levels were detected. Results: Compared with the controls, the ratios of NAA/Cho and NAA/Cr in putamen contralateral (CL) to the symptomatic limbs were significantly lower in patients with IPD. Also in the IPD group, CL NAA/Cho and NAA/Cr ratios were significantly lower than the ipsilateral (IL) values (p<0.001). There was no significant difference between ratios of metabolites in putamen IL to the symptomatic limbs in the IPD group compared with the healthy controls. The mean serum ceruloplasmin level of IPD patients was significantly lower than that of the control group (p<0.001). In the IPD group, a significant direct correlation was found between levels of ceruloplasmin and CL putamen NAA/Cho ratio (p=0.011). Conclusion: In our study the direct correlation between low levels of ceruloplasmin and CL putamen NAA/Cho ratio supports the hypothesis that ceruloplasmin deficiency may contribute to free radical-induced death of neuronal cells