Live-Birth Incidence of Isolated D-Transposition of Great Arteries-The Shift in Trends Due to Early Diagnosis.

This is a single tertiary population-based study conducted at a center in southwest Romania. We retrospectively compared data obtained in two periods: January 2008-December 2013 and January 2018-December 2023. The global incidence of the transposition of great arteries in terminated cases, in addition to those resulting in live-born pregnancies, remained almost constant. The live-birth incidence decreased. The median gestational age at diagnosis decreased from 29.3 gestational weeks (mean 25.4) to 13.4 weeks (mean 17.2). The second trimester and the overall detection rate in the prenatal period did not significantly change, but the increase was statistically significant in the first trimester. The proportion of terminated pregnancies in fetuses diagnosed with the transposition of great arteries significantly increased (14.28% to 75%, p = 0.019).

Intrauterine Growth Restriction-Prediction and Peripartum Data on Hospital Care.

Background and Objectives: We aimed to prospectively obtain data on pregnancies complicated with intrauterine growth restriction (IUGR) in the Prenatal Diagnosis Unit of the Emergency County Hospital of Craiova. We collected the demographic data of mothers, the prenatal ultrasound (US) features, the intrapartum data, and the immediate postnatal data of newborns. We aimed to assess the detection rates of IUGR fetuses (the performance of the US in estimating the actual neonatal birth weight), to describe the prenatal care pattern in our unit, and to establish predictors for the number of total hospitalization days needed postnatally. Materials and Methods: Data were collected from cases diagnosed with IUGR undergoing prenatal care in our hospital. We compared the percentile of estimated fetal weight (EFW) using the Hadlock 4 technique with the percentile of weight at birth. We retrospectively performed a regression analysis to correlate the variables predicting the number of hospitalization days. Results: Data on 111 women were processed during the period of 1 September 2019-1 September 2022. We confirmed the significant differences in US features between early- (Eo) and late-onset (Lo) IUGR cases. The detection rates were higher if the EFW was lower, and Eo-IUGR was associated with a higher number of US scans. We obtained a mathematical formula for estimating the total number of hospitalization days needed postnatally. Conclusion: Early- and late-onset IUGR have different US features prenatally and different postnatal outcomes. If the US EFW percentile is lower, a prenatal diagnosis is more likely to be made, and a closer follow-up is offered in our hospital. The total number of hospitalization days may be predicted using intrapartum and immediate postnatal data in both groups, having the potential to optimize the final financial costs and to organize the neonatal department efficiently.

Telocytes' Role in Modulating Gut Motility Function and Development: Medical Hypotheses and Literature Review.

This review article explores the telocytes' roles in inflammatory bowel diseases (IBD), presenting the mechanisms and hypotheses related to epithelial regeneration, progressive fibrosis, and dysmotility as a consequence of TCs' reduced or absent number. Based on the presented mechanisms and hypotheses, we aim to provide a functional model to illustrate TCs' possible roles in the normal and pathological functioning of the digestive tract. TCs are influenced by the compression of nearby blood vessels and the degree of fibrosis of the surrounding tissues and mediate these processes in response. The changes in intestinal tube vascularization induced by the movement of the food bowl, and the consequent pH changes that show an anisotropy in the thickness of the intestinal tube wall, have led to the identification of a pattern of intestinal tube development based on telocytes' ability to communicate and modulate surrounding cell functions. In the construction of the theoretical model, given the predictable occurrence of colic in the infant, the two-layer arrangement of the nerve plexuses associated with the intestinal tube was considered to be incompletely adapted to the motility required with a diversified diet. There is resulting evidence of possible therapeutic targets for diseases associated with changes in local nerve tissue development.

Ductus Venosus Agenesis and Portal System Anomalies-Association and Outcome.

To evaluate the prenatal diagnosis of agenesis of ductus venosus (ADV) and portal venous system (PVS) anomalies and describe the outcome of these cases, either isolated or associated. We evaluated the intrahepatic vascular system regarding the presence of normal umbilical drainage and PVS characteristics in the second and third trimester of pregnancy. The associated anomalies and umbilical venous drainage were noted. Follow-up was performed at six months follow-up. Ultrasonography was performed in 3517 cases. A total of 19 cases were prenatally diagnosed: 18 ADV cases, seven abnormal PVS cases, and six associations of the two anomalies. We noted an incidence of 5.1‱ and 1.9‱ for ADV and PVS anomalies, respectively. Out of the 18 ADV cases, 27.7% were isolated. Five cases (26.3%) presented genetic anomalies. PVS anomalies were found in 33.3% of the ADV cases. ADV was present in 85.7% of the PVS anomalies. DV and PVS abnormalities were found with a higher than reported frequency. Normal DV is involved in the normal development of the PVS. Additional fetal anomalies are the best predictor for the outcome of ADV cases. Evaluation of PVS represents a powerful predictor for ADV cases and addresses the long-term prognosis.

Early Onset Intrauterine Growth Restriction-Data from a Tertiary Care Center in a Middle-Income Country.

Background and Objectives: In this study, we aimed to describe the clinical and ultrasound (US) features and the outcome in a group of patients suspected of or diagnosed with early onset intrauterine growth restriction (IUGR) requiring iatrogenic delivery before 32 weeks, having no structural or genetic fetal anomalies, managed in our unit. A secondary aim was to report the incidence of the condition in the population cared for in our hospital, data on immediate postnatal follow-up in these cases and to highlight the differences required in prenatal and postnatal care. Materials and Methods: We used as single criteria for defining the suspicion of early IUGR the sonographic estimation of fetal weight < p10 using the Hadlock 4 technique at any scan performed before 32 weeks' gestation (WG). We used a cohort of patients having a normal evolution in pregnancy and uneventful vaginal births as controls. Data on pregnancy ultrasound, characteristics and neonatal outcomes were collected and analyzed. We hypothesized that the gestational age (GA) at delivery is related to the severity of the condition. Therefore, we performed a subanalysis in two subgroups, which were divided based on the GA at iatrogenic delivery (between 27+0 WG and 29+6 WG and 30+0−32+0 WG, respectively). Results: The prospective cohort study included 36 pregnancies. We had three cases of intrauterine fetal death (8.3%). The incidence was 1.98% in our population. We confirmed that severe cases (very early diagnosed and delivered) were associated with a higher number of prenatal visits and higher uterine arteries (UtA) pulsatility index (PI) centile in the third trimester­TT (compared with the early diagnosed and delivered). In the very early suspected IUGR subgroup, the newborns required significantly more NICU days and total hospitalization days. Conclusions: Patients with isolated very early and early IUGR­defined as ultrasound (US) estimation of fetal weight < p10 using the Hadlock 4 technique requiring iatrogenic delivery before 32 weeks' gestation­require closer care prenatally and postnatally. These patients represent an economical burden for the health system, needing significantly longer hospitalization intervals, GA at birth and UtA PI centiles being related to it.

Dexamethasone on absent end-diastolic flow in umbilical artery, in growth restricted fetuses from early-onset preeclamptic pregnancies and the perinatal outcome.

BACKGROUND: Absent end-diastolic flow (AEDF) in the umbilical artery (UA) worsens the already poor prognosis of growth-restricted fetuses (GRFs) in pregnancies complicated by early-onset preeclampsia with severe features (ESP). METHOD: We assessed the correlation between the effect of maternal dexamethasone (Dex) on AEDF in the UA and perinatal outcomes, in 59 GRFs from EPS-complicated pregnancies. The maternal outcome was also evaluated. RESULTS: The mean maternal age at inclusion was 22.4 ± 5.9 years. Dex transiently restored EDF in the UA in 38 (64.4%) cases (trAEDF group), but in 21 (35.6%) patients, the flow was persistently absent (prAEDF group). The effect lasted up to the 4th day.The gestational age at diagnosis, number of days from admission until delivery, and fetal weight were significantly lower in the prAEDF group than in the trAEDF group (p < .05). The same group had a significantly increased rate of fetal proximal deterioration, low APGAR scores, neonatal hypoxia, assisted ventilation, mild intraventricular haemorrhage (I/II), and respiratory distress syndrome, as well as maternal deterioration, especially in cases of resistant hypertension (p < .05). Although the rates of fetal acidemia and perinatal mortality in the prAEDF group were respectively three times and two times higher, the differences were not significant (p > .05). CONCLUSIONS: The Dex no-effect on UA Doppler in GRFs with AEDF in the UA, in EPS-complicated pregnancies, can be a useful marker for a higher risk of proximal fetal deterioration, poor state at delivery, neonatal hypoxic complications, and worsening maternal condition, but not for perinatal mortality. The findings also highlight the alarmingly younger age of patients with EPS. Finally, all these pregnancies should be monitored in a complex multidisciplinary manner in tertiary referral units.Key messageThe effect of dexamethasone on absent end-diastolic flow in the umbilical artery in growth-restricted fetuses from pregnancies complicated by early-onset preeclampsia with severe features can be a useful prognostic factor for perinatal outcomes.

A Decision-Tree Approach to Assist in Forecasting the Outcomes of the Neonatal Brain Injury.

Neonatal brain injury or neonatal encephalopathy (NE) is a significant morbidity and mortality factor in preterm and full-term newborns. NE has an incidence in the range of 2.5 to 3.5 per 1000 live births carrying a considerable burden for neurological outcomes such as epilepsy, cerebral palsy, cognitive impairments, and hydrocephaly. Many scoring systems based on different risk factor combinations in regression models have been proposed to predict abnormal outcomes. Birthweight, gestational age, Apgar scores, pH, ultrasound and MRI biomarkers, seizures onset, EEG pattern, and seizure duration were the most referred predictors in the literature. Our study proposes a decision-tree approach based on clinical risk factors for abnormal outcomes in newborns with the neurological syndrome to assist in neonatal encephalopathy prognosis as a complementary tool to the acknowledged scoring systems. We retrospectively studied 188 newborns with associated encephalopathy and seizures in the perinatal period. Etiology and abnormal outcomes were assessed through correlations with the risk factors. We computed mean, median, odds ratios values for birth weight, gestational age, 1-min Apgar Score, 5-min Apgar score, seizures onset, and seizures duration monitoring, applying standard statistical methods first. Subsequently, CART (classification and regression trees) and cluster analysis were employed, further adjusting the medians. Out of 188 cases, 84 were associated to abnormal outcomes. The hierarchy on etiology frequencies was dominated by cerebrovascular impairments, metabolic anomalies, and infections. Both preterms and full-terms at risk were bundled in specific categories defined as high-risk 75-100%, intermediate risk 52.9%, and low risk 0-25% after CART algorithm implementation. Cluster analysis illustrated the median values, profiling at a glance the preterm model in high-risk groups and a full-term model in the inter-mediate-risk category. Our study illustrates that, in addition to standard statistics methodologies, decision-tree approaches could provide a first-step tool for the prognosis of the abnormal outcome in newborns with encephalopathy.

Polycystic kidney disease in neonates and infants. Clinical diagnosis and histopathological correlation.

A significant cause of end-stage renal disease in infants (40% to 50% of cases) is represented by the group of renal cystic diseases. Actually, the fourth cause of renal failure in young adults is the autosomal dominant polycystic kidney disease (ADPKD). Moreover, the most common genetically inherited kidney disease was proved to be ADPKD, affecting 1-5 per 10 000 individuals. The study was conducted over a period of three years (July 26, 2015-October 30, 2018) on 22 patients aged between two days and 36 months, diagnosed with polycystic kidneys that presented multiple hospital admissions in the Department of Nephrology, "Maria Sklodowska Curie" Emergency Children's Hospital, Bucharest, Romania. The nephrectomy sections were obtained from the material of the Department of Pathology of the same Hospital. Prenatal ultrasonography results were correlated with positive family history of polycystic kidney disease (PKD), fetal enlarged kidneys and oligohydramnios. Neonatal diagnosis of PKD was considered when some of the neonates presented palpable flank masses that caused fetal dystocia. On the other hand, the pediatric clinical examination of older infants revealed abdominal distention secondary to renal masses. After surgical resection, the overall aspect of the kidneys showed that the normal parenchyma had been mostly replaced by cysts with thin, translucent walls that contained a clear fluid. Microscopy confirmed that the parenchyma was mostly replaced by dilated cysts delineated by simple cuboidal or simple flattened epithelium, with areas of remnant fetal kidney parenchyma separated by an enriched stroma. Immunohistochemistry for blood vessels (CD34) revealed normal fine walled blood vessel arcades in the control kidneys, while in most areas from polycystic disease, the blood vessels exhibited enlarged, thickened endothelium, and less collapsed lumens. Regarding the proliferative capacity of the tissues, our Ki67 immunostaining revealed that the less formed, younger tubules in the pathological state had a higher proliferative index compared to control tissue. There seemed to be less albumin immunostaining in the epithelia of the distal contort tubules but that distinction was present also in our pathology. The overall expression level was reduced in polycystic cases (p<0.05), and it could be that this expression decrease might be related to the reduced function of these kidneys. According to what literature states, we have emphasized in our study that aquaporin 1 (AQP1) showed overall decreased reactivity in PKD along with its expression in proximal tubule epithelia.

Status thymicolymphaticus: real or fake?

Sudden infant death syndrome (SIDS) is the sudden, unexpected death of an infant less than one year of age that remains unexplained after a full investigation. SIDS is the most frequent cause of death of infants between two weeks and one year of age, explaining 35% to 55% of all deaths in this age group. We report a newborn male who died soon after birth. The newborn was cyanotic, bradycardic at first, and then asystolic; without any vesicular murmur, apneic, low amplitude thorax movements, even under conditions of positive pressure ventilation on the endotracheal tube. The microscopic aspect thymus highlighted a corticomedullary ratio quite high in favor of the cortical, rich in lymphocyte population, with the dilated subcapsular sinuses. In this report, we considered that cardiorespiratory failure, which was the immediate cause of death, could have been caused by the thymus hypertrophy. This hypertrophy can be a complication of an intrapartum preexistent condition, most probably of hepatic nature.

Holoprosencephaly sequence.

Holoprosencephaly (HPE) sequence is a rare spectrum of cerebral and facial malformations resulting from incomplete division of the embryonic forebrain into distinct lateral cerebral hemisphere. Three ranges of increasing severity are described: lobar, semi-lobar and alobar HPE. A subtype of HPE called middle inter-hemispheric variant (MIHF) has been also reported. The etiology is heterogeneous: teratogens, chromosomal abnormalities and single gene mutations can be involved. Holoprosencephaly results in early morbidity and mortality with a reduced survival beyond neonatal period. The disorder is estimated to occur in 1/16,000 live births. This case report presents a male new born diagnosed with holoprosencephaly, accompanied by median cleft palate, absent nasal bones and chromosomal abnormalities.