Comparison of Apgar scores and cord blood gas parameters in fetuses with isolated congenital heart disease and healthy controls.

OBJECTIVE: This retrospective study aimed to investigate how congenital heart disease (CHD) affects early neonatal outcomes by comparing Apgar scores and umbilical cord blood gas parameters between fetuses with structural cardiac anomalies and healthy controls. Additionally, within the CHD group, the study explored the relationship between these parameters and mortality within six months. METHODS: Data from 68 cases of prenatally diagnosed CHD were collected from electronic medical records, excluding cases with missing data or additional comorbidities. Only patients delivered by elective cesarean section, without any attempt at labor, were analyzed to avoid potential confounding factors. A control group of 147 healthy newborns was matched for delivery route, maternal age, and gestational week. Apgar scores at 1, 5, and 10 minutes, as well as umbilical cord blood pH, base deficit, and lactate levels, were recorded. RESULTS: Maternal age, gestational week at delivery, and birth weight were similar between the CHD and control groups. While Apgar score distribution was significantly lower at 1st, 5th, and 10th minutes in the CHD group, umbilical cord blood gas parameters did not show significant differences between groups. Within the CHD group, lower umbilical cord blood pH and larger base deficit were associated with mortality within six months. CONCLUSION: Newborns with CHD exhibit lower Apgar scores compared to healthy controls, suggesting potential early neonatal challenges. Furthermore, umbilical cord blood pH and base deficit may serve as predictors of mortality within six months in CHD cases. Prospective studies are warranted to validate these findings and integrate them into clinical practice, acknowledging the study's retrospective design and limitations.

Skin disorders in women with poor obstetric history: MTHFR polymorphisms and importance of preconceptional counseling.

OBJECTIVES: This study focused on the link between skin disorders and Methylenetetrahydrofolate reductase (MTHFR) polymorphisms. METHODS: Study cases were taken from a pre-conceptional care program where patients with poor obstetric history were evaluated in terms of systemic disorders including skin diseases. This retrospective cohort (n = 472) consisted of 110 (23.3%) and 362 (76.7%) women with or without skin disorders, respectively. For ease of analysis, the history of skin diseases was classified into seven categories: (1) acne/rosacea/other acneiform disorders; (2) fungal disease; (3) pruritis/xerosis; (4) psoriasis vulgaris; (5) acrochordons and other benign skin growths; (6) urticaria/dermatitis; and (7) viral diseases. RESULTS: In this retrospective cohort of 472 women, we explored the impact of MTHFR A1298C and C677T polymorphisms on skin disorders. Despite similar allelic frequencies, our findings revealed a statistically significant association between the presence of MTHFR polymorphisms and skin disorders (p = .027). Subgroup analysis indicated significantly higher rates of MTHFR polymorphisms in patients with psoriasis vulgaris (p = .033) and acrochordons (p = .030), highlighting their potential relevance in specific skin disorder subtypes. CONCLUSIONS: The increased prevalence of psoriasis and acrochordons among women with MTHFR deficiency underscores the complex relationship between genetic factors and dermatological health. Our findings emphasized the critical role of MTHFR polymorphisms not only in poor obstetric history but also as significant contributors to skin disorders. This dual association highlights the importance of comprehensive preconception counseling, especially customized for women affected by skin disorders.

In vivo and in vitro effects of cord blood hematopoietic stem and progenitor cell (HSPC) expansion using valproic acid and/or nicotinamide.

BACKGROUND: High self-renewal capacity and most permissive nature of umbilical cord blood (CB) results with successful transplant outcomes but low hematopoietic stem and progenitor cell (HSPC) counts limits wider use. In order to overcome this problem ex vivo expansion with small molecules such as Valproic acid (VPA) or Nicotinamide (NAM) have been shown to be effective. To the best of our knowledge, the combinatory effects of VPA and NAM on HSPC expansion has not been studied earlier. The aim of this study was to analyze ex vivo and in vivo efficacy of VPA and NAM either alone or in combination in terms of expansion and engraftment. METHODS: A total of 44 CB units were included in this study. To determine the ex vivo and in vivo efficacy, human CB CD34+ cells were expanded with VPA and/or NAM and colony forming unit (CFU) assay was performed on expanded HSPC. Xenotransplantation was performed simultaneously by intravenous injection of expanded HSPC to NOD-SCID gamma (NSG) mice (n = 22). Significance of the difference between the expansion groups or xenotransplantation models was analyzed using t-test, Mann-Whitney, ANOVA or Kruskal-Wallis tests as appropriate considering the normality of distributions and the number of groups analyzed. RESULTS: In vitro CD34+ HSPC expansion fold relative to cytokines-only was significantly higher with VPA compared to NAM [2.23 (1.07-5.59) vs 1.48 (1.00-4.40); p < 0.05]. Synergistic effect of VPA+NAM has achieved a maximum relative expansion fold at 21 days (D21) of incubation [2.95 (1.00-11.94)]. There was no significant difference between VPA and VPA+NAM D21 (p = 0.44). Fold number of colony-forming unit granulocyte-macrophage (CFU-GM) colonies relative to the cytokine-only group was in favor of NAM compared to VPA [1.87 (1.00-3.59) vs 1.00 (1.00-1.81); p < 0.01]. VPA+NAM D21 [1.62 (1.00-2.77)] was also superior against VPA (p < 0.05). There was no significant difference between NAM and VPA+NAM D21. Following human CB34+ CB transplantation (CBT) in the mouse model, fastest in vivo leukocyte recovery was observed with VPA+NAM expanded cells (6 ± 2 days) and the highest levels of human CD45 chimerism was detectable with VPA-expanded CBT (VPA: 5.42 % at day 28; NAM: 2.45 % at day 31; VPA+NAM 1.8 % at day 31). CONCLUSION: Our study results suggest using VPA alone, rather than in combination with NAM or NAM alone, to achieve better and faster expansion and engraftment of CB HSPC.

Impact of scoliosis on gestational outcome.

Objective: To demonstrate the impact of scoliosis on pregnancy and gestational outcome. Material and Methods: We retrospectively evaluated gestational outcomes of pregnant women with scoliosis at Hacettepe University Hospital between 2008 and 2018. Cases were grouped according to the presence of previous scoliosis surgery and compared in terms of gestational week at birth, birthweight, rate of neonatal intensive care unit admission, hospitalization during pregnancy, route of delivery, type of anesthesia at labor and postpartum intensive care unit admission rate. Ejection fraction (EF), functional vital capacity (FVC), forced expiratory volume (FEV1) and FEV1/FVC ratio values were also recorded. Results: A total of 23 women were included, of whom 12 (52.2%) had a prior scoliosis surgery. One of the 23 (4.3%) cases was terminated due to respiratory problems, while the remaining 22 cases resulted in deliveries. The median gestational week at birth was 38.2 and the median birth weight was 3150 g. Median (range) maternal height was 143 (80-160) cm while median (range) maternal weight was 51 (35-86) kg. Three (13.6%) were diagnosed with restrictive lung disease. No significant difference was found between operated and non-operated groups in terms of respiratory function test results, cardiac EF and other related demographic and clinical features. Overall cesarean delivery rate was 63.6% (14/22) and cesarean section rate was significantly higher in the operated group (83.3% versus 40%) (p=0.04). Conclusion: Cesarean section rate was increased in this cohort of pregnancies in women with scoliosis and who had previous scoliosis surgery.

Refusal of the hospitalization: a distressed dilemma in obstetric practice.

Background: Pregnant women are a special population in which hospitalizations are more recommended due to physiological changes mimicking pathologies and medico-legal concerns. Objectives: We aimed to assess the obstetric outcomes of expectant mothers who were admitted to the obstetrics emergency outpatient clinic and declined the hospitalization advised by doctors. Additionally, we examined the appropriateness of physicians' recommendations. Design: We have retrospectively evaluated the patients admitted to the 'Obstetric Emergency Outpatient Clinic' and refused hospitalization between 1 January 2019 and 31 December 2019. Methods: Cases were classified into three groups based on the trimester, considering the substantial variation between complaints and complications in each trimester. The complaints of pregnant women were categorized as psychosocial causes, obstetric complications, maternal systemic complaints, and suspicion of labor. We evaluated the compatibility of the hospitalization decision with the pregnancy outcome of patients. Results: A total of 958 pregnant women were included in the study. Leading causes for admissions were obstetric complications, maternal systemic complaints, and suspicion of labor in first, second, and third trimesters, respectively. Psychosocial causes were mostly observed in the second trimester. Readmission to the hospital within a week was highest in the third trimester group. According to pregnancy outcomes, 12.5% (94/753) of our recommendations were appropriate in all trimesters. Conclusion: Obstetricians seem overcautious in managing obstetric patients and willing to offer hospitalization more often than the actual requirements.

Bisphenol derivatives in cord blood and association between thyroid hormones and potential exposure sources.

Endocrine-disrupting environmental chemicals are a public health concern, particularly fetal exposure to Bisphenol derivatives. This study aimed to assess fetal exposure to Bisphenol derivatives (BPA, BPF, and BPS) by measuring their levels in cord blood and investigating their association with plastic material used in daily life as well as cord blood TSH and free L-thyroxine (fT4) levels. In this descriptive study, a questionnaire with a face-to-face interview was administered before birth, and cord blood samples were taken immediately after delivery. The mean levels of BPA, BPF, TSH, and fT4 were measured as 10.69 ± 2.39 ng/ml, 3.80 ± 0.58 ng/ml; 2.36 ± 0.23 µIU/ml, and 14.18 ± 0.53 pg/ml, respectively, in a total of 104 cord blood samples. All BPS levels remained below the detection limit. Linear regression analysis revealed a positive association between birth weight and cord blood BPA concentration (ß = 0.26; p = 0.02). Further research on maternal exposure during the fetal and neonatal period is critical for public health.

Association of lupus anticoagulants with risk factors for obstetric complications and adverse gestational outcome.

BACKGROUND: Lupus anticoagulant (LA) may be a cause of poor obstetric outcome. OBJECTIVE: To search the association of LA with risk factors for obstetric complications and adverse gestational outcome. METHODS: This retrospective cohort was consisted of 2 groups of pregnancies with poor obstetric history; 1) LA (+) gestations (Study Group, n= 20) and 2) LA (-) gestations (Control Group, 78). All patients were admitted to a special antenatal care program and were examined in terms of risk factors for thrombotic events, placenta-related obstetric complications, and poor gestational outcomes. Patients were administered low-dose low-molecular-weight heparin (LMWH), low-dose salicylic acid and low-dose corticosteroid (if necessary) within the framework of a prophylaxis protocol in addition to their already existing medications. RESULTS: We have shown that adverse gestational outcome was 1.7-fold more frequent in LA (+) pregnancies with poor obstetric history (p= 0.039, 70% vs. 41%). Higher rates of autoimmune diseases and hereditary thrombophilia were observed among LA (+) patients compared to LA (-) gestations (35% vs. 10.3%, p< 0.012 and 55% vs. 19.2%, p< 0.003, respectively). To identify the effectiveness of low-dose LMWH prophylaxis protocol, we compared gestational outcomes and demonstrated that the miscarriage rate was significantly decreased to half in current pregnancies compared to the previous gestations (73.6% vs. 35%, p= 0.003). CONCLUSIONS: Autoimmune diseases and hereditary thrombophilia are more frequent in LA (+) pregnancies, and these women are prone to obstetric problems. Low-dose LMWH and salicylic acid prophylaxis are critical in the management of LA (+) pregnant women.

Fetal cardiac interventions: First-year experience of a tertiary referral center in Turkey.

AIM: To present the first-year experience of fetal cardiac interventions (FCIs) in a tertiary referral hospital and to evaluate the outcomes. METHODS: This retrospective study consisted of four pregnant women who underwent fetal pulmonary or aortic balloon valvuloplasty between November 2020 and June 2021. The procedures were performed with a percutaneous cardiac puncture under the ultrasonography guidance. Gestational age at intervention, procedural success, complications, and perinatal outcomes were evaluated. Procedural complications defined as fetal bradyarrhythmia requiring treatment, pericardial effusion requiring drainage, balloon rupture, and fetal death. The procedure was considered technically successful if the valve was dilated with a balloon catheter. Ultimately successful procedure was defined as the discharge of infants alive with biventricular circulation. RESULTS: A total of 5 FCIs attempted between 26 + 3 and 28 + 2 gestational weeks. While the procedure was technically successful in 2 cases with pulmonary stenosis, both attempts were unsuccessful in the fetus with pulmonary atresia. Although the procedure was technically successful in the patient with critical aortic stenosis, it ultimately failed. No fetal death occurred in our series and there were no procedure-related significant maternal complications. However, three interventions were complicated by fetal bradycardia and pericardial effusion necessitating treatment, and balloon rupture cropped up in one case. CONCLUSION: FCIs may lead to improving the likelihood of a biventricular outcome for selected fetuses. Careful selection of patients and centralization of experience are essential for obtaining favorable outcomes. Operators should be aware of procedural complications. Improved procedural techniques with a lower complication rate will be achieved through advanced medical technology and special balloon catheters.

Fertility, early menopause and pregnancy outcomes of patients with Takayasu's arteritis.

OBJECTIVES: The reproductive health of patients with Takayasu's arteritis (TA) is an important issue. Systemic inflammation and treatments used in TA may affect female reproductive organs, leading to infertility, maternal and fetal morbidity, and early menopause. This study aimed to evaluate fertility, early menopause and pregnancy outcomes of patients before and after TA diagnosis. In addition, pregnancy morbidities following TA diagnosis were analysed for each cluster. STUDY DESIGN: Two hundred and two patients with TA (184 females) who met the 1990 American College of Rheumatology criteria were registered in the prospective database of Hacettepe University Vasculitis Research Centre by the end of February 2020. Demographic and clinical features, comorbidities, distribution of vascular involvement, obstetric histories and outcomes were evaluated retrospectively. Patients with TA were classified according to novel proposed disease clusters. Early menopause was defined as menopause before 45 years of age. RESULTS: One hundred and twenty-one female patients with TA, for whom gynaecological records and marriage status could be obtained, were included in the study. Ninety-seven patients were married, of whom 12 (12.5 %) patients were infertile. In total, there were 238 pregnancies in 83 female patients with TA: 203 before TA diagnosis, 35 after TA diagnosis, and two patients were diagnosed during pregnancy. Compared with the pre-diagnosis group, maternal complications were significantly more common in the post-diagnosis group [23 (11.3 %) vs 9 (25.7 %); p = 0.048]. The most common maternal complication was gestational hypertension (12.1 %). Fetal complications were common in both groups (21.5 % pre-diagnosis vs 34.2 % post-diagnosis; p = 0.18), and included prematurity, intrauterine growth retardation and low birth weight. According to novel disease subsets, post-diagnosis patients were classified as C1 (n = 3, 15.7 %), C2 (n = 9, 47.3 %) or C3 (n = 6, 31.5 %). One patient could not be classified. There was no difference in obstetric outcomes between these subgroups. Early menopause was observed in 20 (16.5 %) of 121 patients, but some patients had not yet reached 45 years of age. CONCLUSION: Infertility was higher in patients with TA in comparison with the general population in Turkey (12.5% vs 8.6%), and the early menopause rate was lower in patients with TA (16.7% vs 36.1%). Pregnancies following a diagnosis of TA had more maternal complications than pre-diagnosis pregnancies. Fetal complications were more common both pre- and post-diagnosis. Chronic inflammation before TA diagnosis may lead to increased infertility and fetal complications.

Comparison of Prenatal Ultrasound and Autopsy Findings of Fetuses Terminated in Second Trimester: A Five-Year Experience of a Tertiary Center.

Objective: The aim of this study is to compare the prenatal ultrasonography (US) and the autopsy findings of the fetuses of 12-24th gestational weeks. Methods: This retrospective study comprises 84 fetuses autopsied. The correlation between US and autopsy findings was classified into four categories: (A) Compatible, (B) Minor findings added, (C) Major findings added, and (D) Incompatible. Results: Malformations were the most common medical termination indication. The most frequent findings at autopsy were multiple system findings followed by central nervous system. Prenatal US and autopsy findings were completely compatible in 48 fetuses (57.1%), while additional minor and major autopsy findings were found in 26 (31.0%) and 4 (4.8%), respectively. Autopsy and US findings were incompatible in 6 fetuses (7.1%). Conclusion: Prenatal ultrasound and fetal autopsy are complementary tools to obtain detailed and complete diagnosis of fetal anomalies and fetal autopsy is still a valuable tool to obtain further diagnostic information.

A lethal and rare cause of arthrogryposis: Glyt1 encephalopathy.

Glycine encephalopathy with normal serum glycine (MIM #617301), also known as GLYT1 encephalopathy, is an extremely rare disorder caused by biallelic variants in SLC6A9 and characterised by facial dysmorphic features, skeletal findings including contractures, knee hyperextension, and joint dislocations and seizures. To date, only ten patients from five families have been reported and only two of them could survive until childhood. In this study, we report on a consanguineous Turkish couple with a history of six pregnancies with three habitual abortions and three postpartum exitus. While in three pregnancies the babies were born prematurely at 32nd gestational week by emergency ceserean section due to hydrops and fetal distress, the other pregnancy was medically terminated at 16th gestational week due to absent fetal heart activity. The product of all these three pregnancies exhibited similar phenotype including short neck, thoracic kyphosis, hypertrichosis, joint contractures and dislocations, hypertonia, knee hyperextension and facial dysmorphic features. Trio exome sequencing was performed prenatally during the last pregnancy and a novel VUS variant in SLC6A9 and a likely pathogenic variant in MTOR gene were detected. DNA isolation was performed from frozen muscle and adrenal tissue of previously autopsied fetuses with similar clinical features, and the same variants were confirmed in both of them. Our data suggest that SLC6A9 and MTOR variants may be responsible for this extremely lethal phenotype in this family.

Impact of anti-thyroid peroxidase and anti-thyroglobulin antibodies on the gestational outcome of euthyroid pregnancies: A retrospective study.

BACKGROUND: Thyroglobulin (anti-TG) and/or thyroid peroxidase (anti-TPO) autoantibodies are associated with higher rates of poor gestational outcomes. OBJECTIVE: To demonstrate the impact of anti-TPO and anti-TG autoantibodies on the gestational outcomes of euthyroid pregnant women with a history of poor gestational outcome and thyroid gland disorders. METHODS: This retrospective study included totally 75 euthyroid pregnant, 30 of women with high thyroid autoantibodies (Anti-TPO/Thyroglobulin-positive group) and 45 of them without autoantibodies (control group). RESULTS: We could not demonstrate significant differences between two groups in terms of risk factors/co-morbidities, obstetric complications, gestational outcomes, and birth data (p> 0.05). However, enhanced miscarriage rates were observed among the Anti-TPO/Thyroglobulin-positive and control groups without significance (36.7% and 17.8% respectively, p= 0.116). High neonatal intensive care unit (NICU) admission rates were found for control and Anti-TPO/Thyroglobulin-positive groups (16.2% and 21.1%, respectively) (p= 0.720). Clinically, we compared the two groups in terms of the existence and the types of goiter (diffuse and nodular), and demonstrated that nodular goiter was statistically more frequent in the control group (40.0% vs. 8.7%, p= 0.015). Alongside, relatively high hereditary thrombophilia and type-2 diabetes mellitus rates were found in the Anti-TPO/Thyroglobulin-positive group (20.0% and 20.0%). CONCLUSION: Thyroid autoantibody positivity is likely a risk factor for early pregnancy loss and NICU admission.

Singleton pregnancy losses before gestational week 22 among patients with autoimmune disorders and methylenetetrahydrofolate reductase polymorphisms.

BACKGROUND: The rates of pregnancy losses (PLs) are increased by maternal risk factors such as autoimmune disorders (AD) and methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms. OBJECTIVE: To evaluate singleton PLs before gestational week (gw) 22 among patients with AD and MTHFR polymorphisms. METHODS: Totally, 1108 singleton pregnancies in 243 women were categorized as: 1) 148 pregnancies in 33 patients with AD, 2) 316 pregnancies in 66 patients with MTHFR polymorphisms, 3) 644 pregnancies in 144 patients with AD +MTHFR polymorphisms. PLs were classified into subgroups: a) Chemical Pregnancy(CP), b) Blighted Ovum(BO), c) gw ⩽ 10, d) gw11-14 e) gw15-22, f) Ectopic Pregnancy(EP), g) Trophoblastic Disease(TD). Obstetric histories were compared using Beksac Obstetrics Index (BOI): [number of living child + (π/10)]/gravida. RESULTS: PL rates before gw22 were 39.2% (58/148), 33.2% (105/316), and 36.3% (234/644) in AD, MTHFR, and AD +MTHFR groups, respectively (p= 0.421). The rate of Pre-Prenatal Screening Period fetal losses (CP + BO + gw ⩽ 10 fetal losses + EP + TD) were 84.8%, 75.9%, and 77.8% in AD, MTHFR, and AD +MTHFR, respectively (p= 0.264). Gravidity ⩽ 4 versus those with gravidity ⩾ 5 had statistically significant differences in BOI (p< 0.001). CONCLUSIONS: PL rate before gw22 among singleton pregnancies with AD and/or MTHFR polymorphisms was 35.8%. The clinical findings seem to be more complicated in patients with gravidity ⩾ 5.

Gestational Outcomes of Pregnant Women with Unilateral Congenital Renal Agenesis.

ObjectiveWe evaluated if there were more adverse gestational outcomes of pregnant women with unilateral congenital renal agenesis (UCRA). Study design: This single center retrospective case-control study compared maternal complications and neonatal outcomes from 25 women with UCRA to the outcomes of 125 women with two kidneys. Results: UCRA women had lower gestational weeks at birth and higher rates of preterm delivery (p = 0.004 and <0.001; respectively). Mothers had higher rates of preeclampsia and newborns with congenital anomalies and neonatal intensive care unit (NICU) admission (p = 0.009, 0.042, and 0.039; respectively). Unadjusted odds ratios were significantly higher for preterm delivery and for any APGAR score of <7 at the first 10 min and preeclampsia [OR (95% CI):13.5 (4.66-39.05), 31 (3.44-279.32) and 5.76 (1.33-24.84), respectively]. Conclusion: Maternal UCRA is a risk factor for less optimal obstetric and neonatal outcomes.

Musculoskeletal and anthropometric factors associated with urinary incontinence in pregnancy.

INTRODUCTION: Urinary incontinence (UI) is a common pelvic floor dysfunction in pregnancy. The relationship between biomechanical changes and pregnancy-related UI has not been fully elucidated. OBJECTIVE: To investigate the association of various musculoskeletal and anthropometric changes in pregnancy that affect gestational UI. METHODS: The study was conducted with 275 pregnant women. Ninety-three, 110 and 72 women were in first, second and third trimesters, respectively. Incontinence Impact Questionnaire for UI, Urogenital Distress Inventory-Short Form and Incontinence Severity Index were applied. Lumbar lordosis measurement was performed by Baseline Bubble Inclinometer while diastasis recti abdominis (DRA) measurement was carried out by finger-width method. Manual muscle test for rectus abdominis and right and left external oblique abdominal muscles, and Benign joint hypermobility test with Beighton scoring method were also applied as musculoskeletal measurements. Tape measurement at the waist, umbilical and hip levels, caliper with bi-iliac and bi-trochanteric diameters were also recorded as anthropometric measurements. RESULTS: Significant associated factors for UI were: umbilical DRA (OR = 1.57; p = .012); rectus abdominis muscle strength (values of 3 and below, OR = 1.2; p = .014); umbilical environment (OR = 1.1; p = .029); bi-iliac diameter (OR = 1.1; p = .05;) and bi-trochanteric diameter (OR = 1.3; p = .05), respectively. CONCLUSION: Changing musculoskeletal and anthropometric characteristics of pregnant women should be taken into consideration in UI follow-up during pregnancy.

Fetal Mediastinal Fibrosarcoma. Report of Two Cases.

Introduction: One-third of fetal soft tissue tumors are malignant and include congenital fibrosarcoma (CF). We report two fetal CFs arising in the posterior mediastinum. Case Presentation: In case 1, the CF resulted in a mediastinal shift, extensive infiltration of the tumor around adjacent structures, pulmonary hypoplasia, pleural effusion, and rapid growth. The pregnancy was terminated. Case 2 had multiple intrathoracic masses, thoracic hypoplasia, pleural effusion, and fetal death. Both were diagnosed as fibrosarcoma at fetopsy. Discussion: Although congenital CF tends to be locally aggressive with a low metastatic rate, it tends to grow rapidly and the tumor location can affect fetal survival. In Case 1, the tumor demonstrated locally aggressive behavior whereas multiple distant metastases such as lung, liver, adrenals, and left eye were detected in Case 2. The tumor was directly responsible for intrauterine fetal demise in the second case.

Impact of Prematurity on the Buccal Epithelial Cells of the Neonates via Wnt/Beta-Catenin Signaling Pathway and Apoptosis.

OBJECTIVE: Understanding the reflections of prematurity is necessary for the management of neonatal complications. We focused on the impact of prematurity and related "maternal risk factors/obstetric complications" on buccal cells of the neonates via evaluation of the Wnt/ß-catenin signaling pathway and apoptosis. STUDY DESIGN: This study consisted of "early preterm neonates (EPN) (≤34th gestational week [gw]) (n = 36)," "late preterm neonates (LPN) (34th- < 37th gw) (n = 46)," and "term neonates (control) (≥37th gw) (n = 56)." Cohort was also subclassified according to the presence of maternal risk factors, obstetric complications, and neonatal complications. Wnt/ß-catenin signaling and caspase-3 activation pathways were studied immunocytochemically. RESULTS: Wnt/ß-catenin signaling positivity was statistically more frequent at buccal smears of the EPN and LPN groups compared with controls (p < 0.001). The cutoff for gestational age at delivery in receiver operating characteristic curve with the best balance of sensitivity (67.4%) and specificity (67.3%) was 35.8th gw for determining the reduction of Wnt/ß-catenin signaling positivity (p < 0.001). The study demonstrated that obstetric complications significantly affected the activity of signaling, while maternal risk factors do not have any effect on Wnt/ß-catenin signaling pathway (p = 0.003 and p = 0.828, respectively). This study also demonstrated a significant relationship between Wnt/ß-catenin signaling pathway and the presence of neonatal complications (p = 0.015). CONCLUSION: Dynamic characteristics of buccal cells are influenced by prematurity and related obstetric and neonatal problems. Buccal smear is a good tool to investigate the impact of prematurity and obstetric problems on perinatal outcome. KEY POINTS: · Neonatal buccal cells are affected by prematurity and related obstetric/neonatal problems.. · 35.8th gw is critical for determining the reduction of Wnt/ß-catenin signaling positivity.. · Obstetric and neonatal complications significantly related to Wnt/ß-catenin signaling activity..

A rare congenital esophageal anomaly mimicking an isolated esophageal atresia: Kluth Type IV1a membranous esophageal atresia.

Congenital esophageal web is a very rare type of esophageal atresia (EA) and is considered as Type IV atresia in Kluth's classification. Type IV EA is further classified into subgroups according to the location of web and the presence of tracheoesophageal fistula (TEF). Herein, we present a newborn having Type IV1a EA who was initially suspected as isolated EA and has co-existing malrotation together with the review of the literature. A newborn having congenital esophageal web was admitted with antenatal ultrasonography revealing polyhydramnios, dilated stomach, and duodenum. Abdominal X-ray revealed a gasless abdomen suggesting isolated EA. The upper gastrointestinal series confirmed complete obstruction at the lower esophagus. Bronchoscopy performed excluding TEF. Laparotomy revealed intestinal malrotation and the absence of another GI webs. Gastrotomy was performed and mucosal web at GEJ was seen by pushing nasogastric catheter. Web excision and Ladd procedure were performed. Congenital esophageal web is an extremely rare type of esophageal anomaly that can be only classified in Kluth classification. A high index of suspicion is required for diagnosis especially in newborns with the gasless abdomen and esophageal obstruction at the level of GEJ. Preoperative bronchoscopy is mandatory to exclude an associating TEF. Surgical exploration via laparotomy is beneficial for exploring additional GIS anomalies.

Complicated peripartum course in a patient with very long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency.

Very long-chain acyl-coenzyme A (CoA) dehydrogenase (VLCAD) deficiency is an autosomal recessive fatty acid oxidation disorder characterized by rhabdomyolysis, hypoglycemia and cardiomyopathy. The general treatment approach in adult patients is based on the prevention of catabolism. High carbohydrate, low fat diet and supplementation of medium-chain triglycerides are essential in the treatment. There is little experience with pregnancy follow-up in this patient group. We present a complicated peripartum course and successful management in a patient with VLCAD deficiency. Although high-dose glucose infusion was initiated, creatine kinase levels significantly increased in the immediate postpartum period, but the patient remained asymptomatic and rhabdomyolysis resolved rapidly after increasing the glucose infusion rate.

Anxiety, depression and concerns of pregnant women during the COVID-19 pandemic.

PURPOSE: In December 2019, the emerging of a novel coronavirus (COVID-19) has influenced the whole world. The current pandemic also triggers several psychological changes. Uncertainties and changes in health practices may cause anxiety, depression, and concerns on vulnerable populations such as pregnant. This study aims to survey the pregnant women to capture the psychological impact and perceptions during the pandemic. METHODS: A total of 297 pregnant women aged ≥ 18 years were enrolled in May 2020. We evaluated the hard-copy survey included questions about demographic and clinical information of patients, 95% confidence intervals of a COVID-19-related questionnaire in a Likert scale and 14-item Hospital Anxiety and Depression Scale (HADS). RESULTS: A total of 297 pregnant women were included in this study with a mean age of 27.64. Most patients (82.5%) had concerns about infecting their babies during delivery. The fear of infection of the fetus during delivery revealed elderly age and having anxiety as the unique significant risk factors. Mean HADS-A and HADS-D scores were 7.94 (± 4.03) and 7.23 (± 3.84), respectively. Multivariate analysis showed having anxiety was associated with a high HADS-D score and concern about the inability to reach obstetrician, and being in advanced age, having a high HADS-A score, and concern about the inability to reach obstetrician demonstrated significant effects on HADS-D score. CONCLUSION: We conclude that in future pandemics, communications and reassurance of the patients should be prioritized upon their routine ante-natal care to avoid increased levels of anxiety and even depression.