Search Results (47)

High-risk pregnancies (HRPs) constitute a significant global health issue due to their strong association with increased maternal and neonatal morbidity and mortality. Although pregnancy is generally characterized by positive expectations, the presence of maternal comorbidities, gestational complications, or adverse socioeconomic and environmental conditions can markedly elevate the probability of unfavorable outcomes. HRPs contribute disproportionately to complications such as preterm birth, fetal growth restriction, low birth weight, and congenital anomalies, which are key determinants of neonatal mortality and long-term developmental and health challenges. A broad spectrum of risk factors as well as insufficient prenatal care, underscores the complex nature of HRPs. These conditions necessitate a multidisciplinary management approach encompassing early risk identification, continuous monitoring, and individualized interventions. The neonatal prognosis in such contexts is strongly influenced by gestational age at delivery, birth weight, the standard of neonatal care, and the underlying etiological factors driving preterm or complicated deliveries. Preventive strategies including comprehensive prenatal screening, systematic antenatal follow-up, and timely referral to specialized perinatal care centers are essential for reducing the burden of HRPs. Furthermore, addressing social determinants of health—such as low socioeconomic status and limited access to healthcare—is critical for optimizing maternal and neonatal outcomes. This review consolidates current evidence on the epidemiology, etiological factors, and clinical implications of high-risk pregnancies, emphasizing the necessity of an integrative, preventive, and multidisciplinary framework to mitigate adverse neonatal outcomes and improve long-term health trajectories. Full article

Background: Cranial Doppler ultrasonography (DS) is a non-invasive method for evaluating cerebral hemodynamics in neonates with perinatal asphyxia (PA). This study aimed to assess whether cerebral vascular resistance indices (RIs) measured within the first 24 h of life can predict the severity of brain injury. Methods: DS was performed on the anterior cerebral artery (ACA) and middle cerebral artery (MCA) between 6 and 24 h after birth in newborns diagnosed with PA. Prognostic value was evaluated by comparing RI values with cranial magnetic resonance imaging (MRI) results. Results: Of the 107 infants included in the study, 11 (10.3%) had severe brain damage, 27 (25.2%) had mild and 20 (18.7%) had moderate changes. The mean ACA RI was 0.61 ± 0.15 in the severe group and 0.70 ± 0.12 in the mild–moderate group (p = 0.023). MCA RI was 0.63 ± 0.20 and 0.71 ± 0.13, respectively. ROC analysis showed an area under the curve (AUC) of 0.901 for ACA RI with a cut-off of 0.58 (84% sensitivity and 84% specificity), and 0.874 for MCA RI with a cut-off of 0.59 (83% sensitivity and 84% specificity). Conclusions: Early ACA and MCA RI measurements via Doppler ultrasonography may serve as valuable predictors of brain injury severity in neonates with PA and should be considered alongside other clinical and imaging findings. Full article

Background: Thrombophilia is a prothrombotic disorder that can affect pregnancy outcomes, potentially leading to maternal complications, fetal growth restriction, and adverse perinatal events. However, the precise relationship between thrombophilia and these outcomes remains under investigation, and the impact of hematological, renal, hepatic, and coagulation alterations in thrombophilic pregnancies is not yet fully understood. This study aims to examine the maternal and neonatal consequences of thrombophilia by analyzing key laboratory parameters and perinatal outcomes in affected pregnancies. Methods: A retrospective observational study was conducted on 251 pregnant women, divided into thrombophilic (n = 226) and non-thrombophilic (n = 25) groups. Data on maternal demographics, laboratory parameters (hematological, metabolic, renal, hepatic, and coagulation markers), obstetric outcomes, and neonatal characteristics were extracted from medical records. Statistical analysis included t-tests, chi-square tests, and Pearson correlation analysis to assess the association between thrombophilia and clinical outcomes. Results: Thrombophilic pregnancies were associated with significantly lower fibrinogen levels (p = 0.036) and decreased INR (p = 0.006), suggesting a hypercoagulable state. Renal function was affected, as evidenced by elevated urea (p = 0.012) and creatinine (p = 0.009), indicating a predisposition to kidney dysfunction. Neonates from thrombophilic pregnancies exhibited slightly lower Apgar scores at 1 and 5 min, though the differences were not statistically significant (p = 0.101, p = 0.131). NICU admission rates were comparable between groups (p = 0.317), suggesting that thrombophilia may not be a major determinant of neonatal intensive care needs. However, gestational age and birth weight remained the strongest predictors of neonatal vitality (p < 0.001), while coagulation abnormalities and renal dysfunction correlated with poorer perinatal outcomes. Conclusions: Thrombophilia is associated with altered coagulation profiles, renal dysfunction, and potential risks for maternal complications. While neonatal outcomes were not significantly different, the observed trends suggest the need for enhanced monitoring in thrombophilic pregnancies. Early intervention, thromboprophylaxis, and individualized management strategies may improve maternal and neonatal prognosis. Further research is needed to refine preventive strategies and optimize therapeutic approaches in high-risk pregnancies. Full article

Objective: Premature placental calcification (PPC) has been implicated in adverse perinatal outcomes, yet its clinical significance remains controversial. This meta-analysis aimed to quantitatively synthesize current data on the association between PPC, defined as grade 3 placental calcification before 36⁺⁶ weeks of gestation and adverse perinatal outcomes. Data Sources: A systematic search was conducted in MEDLINE, Scopus and The Cochrane Library from inception until 11 March 2025, to identify eligible studies. Study Eligibility Criteria: Observational studies including singleton pregnancies with PPC diagnosed via ultrasonography between 28⁺⁰ and 36⁺⁶ weeks of gestation and comparing them with pregnancies with Grannum grade 0, 1, or 2 placentas were considered eligible. Methods: Study quality was assessed using the Newcastle−Ottawa Scale, and the risk of bias was evaluated with the Quality In Prognosis Studies tool. The primary outcomes were small-for-gestational-age (SGA) neonates and preeclampsia. Heterogeneity was assessed using Cochran’s Q test and the I² statistic. Meta-analyses were conducted using a random-effects model, with outcomes reported as relative risk (RR) or mean difference (MD) with 95% confidence intervals (CIs). Results: In total, nine cohort studies were included. PPC was associated with an increased risk of SGA (RR, 1.99; 95% CI, 1.46−2.70), preeclampsia (RR, 5.27; 95% CI, 2.24−12.40), fetal growth restriction (RR, 2.31; 95% CI, 1.30−4.09), preterm delivery (RR, 2.11; 95% CI, 1.00−4.45), suspected fetal hypoxia (RR, 1.71; 95% CI, 1.13–2.56), low 5 min Apgar score (RR, 2.28; 95% CI, 1.50−3.44) and neonatal intensive care unit admission (RR, 1.80; 95% CI, 1.02−3.18). No significant associations were found with fetal or neonatal death (RR, 2.75; 95% CI, 0.87−8.71), cesarean delivery (RR, 1.26; 95% CI, 0.90−1.78), gestational diabetes mellitus (RR, 1.17; 95% CI, 0.81−1.70), neonatal resuscitation (RR, 1.04; 95% CI, 0.92−1.16), birthweight (MD, −187.46 g; 95% CI, −413.14 to +38.21), or gestational age at birth (MD, −0.62 weeks; 95% CI, −1.36 to +0.11). A sensitivity analysis excluding high-risk-of-bias studies yielded consistent results. Conclusions: PPC is associated with several adverse perinatal outcomes, including SGA and preeclampsia. While the clinical significance of placental grading has remained limited in recent years, this study has shown that PPC may serve as an early indicator of placental insufficiency, warranting enhanced fetal surveillance and risk assessment in affected pregnancies. Further research is needed to refine its prognostic utility and integration into obstetric practice. Full article

Background/Objectives: This study aimed to provide a descriptive review of fetal aberrant right subclavian artery (ARSA), with a discussion of the genomic and structural anatomy and perinatal prognosis in our hospital’s obstetric department. Methods: In total, 3266 fetal level II sonographies were performed between January 2020 and June 2023. The 21 cases diagnosed with ARSA were included in this study. Obstetric ultrasound screening, noninvasive prenatal screening, and fetal karyotyping were performed. Fetal echocardiograms, postnatal information, and follow-up data were recorded. Results: In our dataset of 3266 cases, the overall incidence rate of ARSA was 0.6%. Of the 21 fetuses with ARSA, no abnormalities were detected in either prenatal or genetic tests, and no chromosomal anomalies were identified. Conclusions: Our study provides informative insights into ARSA, emphasizing the need for a comprehensive evaluation of its structural and genetic aspects. The findings of this study prompt further exploration, especially regarding the increasing incidence of ARSA and the potential role of advanced genetic analyses in enhancing diagnostic precision and fetal prognostic evaluation. Full article

Background: The aim of the study was to evaluate a novel EEG scoring system as a diagnostic and prognostic tool for brain injury in infants who had experienced perinatal asphyxia. Methods: The scoring system, based on a semi-quantitative approach, encompassed seven EEG parameters and their aggregate Dammiss score (DS) measured across seven time points (6 h, 12 h, 24 h, 48 h, 72 h, 78 h, and 2 weeks). The EEGs of 61 full-term newborns affected by perinatal asphyxia and treated with therapeutic hypothermia were evaluated. Results: The EEG parameters were correlated with the outcome at 2 years of age: 41 infants showed normal development; 16 presented with mild neurological abnormalities; and 4 developed cerebral palsy. Key EEG features—such as maturational patterns, sleep states, interburst interval, burst morphology and DS at 6 h of life—were highly predictive of outcomes. Correlations were also observed for sleep states, burst morphology, and DS at 12 and 24 h. Notably, burst amplitude and seizure did not correlate with outcome. Additionally, EEG recovery—observed in all patients—was temporarily impaired by seizures in 18% of the cooled infants. Conclusions: The EEG findings within the first 6 h of life were the most predictive of neurodevelopmental outcomes. The DS and EEG maturational features emerged as the most robust indicators of prognosis. Full article

Objective: Intrahepatic cholestasis of pregnancy (ICP) is associated with an elevated risk of adverse perinatal outcomes, including perinatal morbidity and mortality. The objectives of this study were to evaluate the bile acid (BA) metabolism profiles in the urine of patients with ICP and to investigate the association between specific BAs and maternal and neonatal outcomes in patients with ICP. Methods: A total of 127 Chinese women with ICP and 55 healthy pregnant women were enrolled in our retrospective study. Spot urine samples and clinical data were collected from pregnant women from January 2019 to December 2022 at the First Affiliated Hospital of Chongqing Medical University, Chongqing. Based on total bile acid (TBA) levels, the ICP group was subdivided into mild (10–40 μmol/L) and severe (≥40 μmol/L) ICP groups. Patients in the ICP group were further divided into two categories according to neonatal outcomes: an ICP with adverse pregnancy outcomes group and an ICP with non-adverse pregnancy outcomes group. Metabolites from maternal urine were collected and analyzed using ultra-high-performance liquid chromatography–triple quadrupole time-of-flight mass spectroscopy (UPLC-triple TOF-MS). Results: Significant differences were observed between the mild and severe ICP groups in the onset time of symptoms, gestational weeks at time of ICP diagnosis, the duration of using ursodeoxycholic acid (UDCA) drugs during pregnancy, gestational age at delivery, premature delivery, and cesarean delivery. The expression levels of the composition of different urinary bile acids including THCA, TCA, T-ω-MCA, TCA-3-S, TCDCA-3-S, TDCA-3-S, GCDCA-3-S, DCA-3-G and GDCA-3-G were remarkably higher in the ICP with adverse pregnancy outcomes group than those in the ICP with non-adverse pregnancy outcomes group and the control group. The single-parameter model used to predict adverse pregnancy outcomes in ICP had similar areas under the curve (AUCs) of the receiver operating characteristic (ROC), ranging from 0.755 to 0.869. However, an AUC of 0.886 and 95% CI were obtained by the index of combined urinary bile acids in multiple prediction models (95% CI 0.790 to 0.983, p < 0.05). TCA-3-S in the urinary bile acids had a strong positive correlation with the aspartate aminotransferase (AST) level (r = 0.617, p < 0.05). Furthermore, TCDCA-3-S and GCDCA-3-S in the urinary bile acids had a strong positive correlation with the alanine aminotransferase (ALT) level (r = 0.607, p < 0.05; r = 0.611, p < 0.05) and AST level (r = 0.629, p < 0.05; r = 0.619, p < 0.05). Conclusions: Maternal urinary bile acid profiles were prominent for the prognosis of maternal and neonatal outcomes of ICP. Elevated levels of TCA-3-S, TCDCA-3-S, and GCDCA-3-S in urine might be important predictors for indicating adverse pregnancy outcomes in ICP. Full article

Background/Objectives: The Hammersmith Infant Neurological Examination (HINE) is a standardized neurologic exam for infants between 2 and 24 months. Scores can be compared to optimality cutoffs as one component to support an early diagnosis of cerebral palsy (CP). Some prognosis is also possible for infants diagnosed with CP. We aimed to understand the longitudinal trajectories of HINE scores in infants who were ultimately diagnosed with CP. Methods: Clinical records were reviewed for children who were diagnosed with CP in two high-risk infant follow-up clinics with HINE scores from at least two visits between the corrected ages of 3 months and 2 years. Trajectories were calculated individually and by group for infants in four categories—term neonatal hypoxic ischemic encephalopathy (HIE), term perinatal arterial ischemic stroke (PAIS), premature infants with brain injury, and “Other” (term infants with congenital malformations and/or congenital hydrocephalus). The changes in HINE scores between clinic visits were compared using linear mixed-effect models with a random intercept, pulling data by diagnostic group across visits and accounting for within-child correlations of scores over the follow-up time. Results: The changes in HINE scores for sixty children (twenty-five with prematurity, eighteen with HIE, seven with PAIS, and ten in the other category) were assessed. The linear mixed-effect models indicated that the infants with PAIS had an estimated 10.8-point increase in total HINE scores after 9 months of age compared to earlier assessments (95% CI [2.5, 19.2]. There was no statistically significant improvement in the scores among the infants in the other brain injury groups. The infants with PAIS had an estimated 2.9-point increase in HINE asymmetry scores after 9 months of age compared to prior visits (95% CI [0.7, 5.1]). None of the other diagnostic categories had statistically significant increases in asymmetry scores over time. Conclusions: The children with PAIS with resultant hemiplegia showed increasing HINE scores throughout the first two years of life. In contrast, the HINE scores remained stable for those children with term HIE, prematurity-associated brain injury, and congenital malformations and/or congenital hydrocephalus diagnosed with CP. Tracking individual changes (or stability) in HINE scores can aid diagnosis, inform prognosis, and guide the design of clinical trials targeting neurologic injury. Full article

The perinatal period, due to the many physical, psychological, and social changes in future mothers, may represent a critical phase with an increased risk for mental health. Postpartum depression (PPD) is one of the main syndromes that affect around 17 percent of women after pregnancy and in the first months of motherhood. This systematic review, following PRISMA guidelines, aimed to identify the main pre-partum psychiatric risk factors that may influence the occurrence and diagnosis of PPD with a focus on the antenatal and clinical history of depression, bipolar disorders, obsessive–compulsive disorder, and psychosis. From the search in main scientific databases (Web of Science, Pubmed, Psychinfo, and Scopus), 37 articles were included for the critical evaluation. The studies showed that antenatal depression and depressive episodes during pregnancy represent higher risk factors for PPD. Also, a clinical history of major depression, especially if associated with other risk factors (such as poor demographic or social conditions) increases the risk for PPD. From the systematic analysis emerged a paucity of studies considering the other psychiatric syndromes that should be overcome. PPD represents a multisystemic syndrome involving all the aspects of a mother’s life as well as affecting children’s development; for this reason, exploring the role of mental health risk factors for PPD onset, progression, and prognosis is relevant, from a clinical point of view, to find the best way to promote the mother’s psychological well-being from the antenatal period. Full article

Objective: Acute lymphoblastic leukaemia (ALL) is the most frequent childhood cancer. Infant ALL (<1 year) is rare, but it captures a lot of interest due to its poor prognosis, especially in patients harbouring KMT2A rearrangements, which have been demonstrated to arise prenatally. However, epidemiological studies aimed at identifying specific risk factors in such cases are scarce, mainly due to sample-size limitations. We conducted a scoping review to elucidate the prenatal or perinatal factors associated with infant ALL. Methods: Original articles, letters, or conference abstracts published up to June 2022 were identified using the PubMed, Web of Science, and Embase databases, and 33 observational studies were selected. Results: The study reveals several well-established associations across the literature, such as maternal exposure to pesticides and high birth weight, and outlines suggestive associations, such as parental heavy smoking, parental use of several medications (e.g., dipyrone), and maternal exposure to air pollution during pregnancy. Conclusions: This scoping review summarizes the few observational studies that have analysed the prenatal and perinatal risk factors for ALL in infants diagnosed before the age of 1 year. The results of this review highlight the lack of research into this specific age group, which merits further research. Full article

Background: Congenital mesoblastic nephroma represents 3–10% of all pediatric renal tumors. With the advancement of ultrasound diagnostics and magnetic resonance imaging, the diagnosis of this renal neoplasm is increasingly being established prenatally and at birth. It usually presents as a benign tumor, but it can severely affect pregnancy outcomes, contributing to perinatal morbidity and mortality. Lissencephaly belongs to a rare category of neurodevelopmental disorders marked by the absence of a substantial reduction in the typical folds and grooves in the cerebral cortex. The prognosis for patients with lissencephaly is extremely poor, carrying with it a high mortality rate. Case Presentation: We present a case of congenital mesoblastic nephroma (CMN) diagnosed with polyhydramnios at 28 weeks of gestation, which led to preterm delivery at 29 weeks and a fatal outcome for the newborn. Histopathological examination confirmed the diagnosis of CMN along with fetal pachygyria/lissencephaly. The aim of this study is to point out the characteristics and unique correlation between CMN and lissencephaly, and to illustrate the histopathological features of CMN and lissencephaly through an educational example derived from our presented index case. To the best to our knowledge, the association of CMN with lissencephaly has not been described in the literature so far. Conclusions: Outlining the prenatal progression of CMN and the outcome of pregnancies involving fetal CMN and lissencephaly, this case underscores the importance of comprehensive ultrasound examinations, including central nervous system evaluation, to identify potential coexisting anomalies and refine prenatal diagnostic practices. Full article

Background/Objectives: Preeclampsia (PE) is a systemic disease that affects 4.6% of pregnancies. Despite the existence of a first-trimester screening for the prediction of preterm PE, no consensus exists regarding neither the right moment to end the pregnancy nor the appropriate variables to estimate the prognosis. The objective of this study was to obtain a prediction model for perinatal death in patients with preterm PE, useful for clinical practice. Methods: Singleton pregnant women with PE and preterm delivery were included in an observational retrospective study. Multiple maternal and fetal variables were collected, and several multivariable logistic regression analyses were applied to construct models to predict perinatal death, selecting the most accurate and reproducible according to the highest area under the curve (AUC) and the lowest Akaike Information Criteria (AIC). Results: A group of 148 pregnant women were included, and 18 perinatal deaths were registered. Univariable logistic regression selected as statistically significant variables the following: gestational age (GA) at admission, fetal sex, poor response to antihypertensive drugs, PlGF, umbilical artery (UA) pulsatility index (PI), cerebroplacental ratio (CPR), and absent/reversed ductus venosus (DV). The multivariable model, including all these parameters, presented an AUC of 0.95 and an AIC of 76.5. However, a model including only GA and fetal sex presented a similar accuracy with the highest simplicity (AUC 0.93, AIC 67.6). Finally, in fetuses with a similar GA, fetal death became dependent on PlGF and fetal sex, underlying the role of fetal sex in all circumstances. Conclusions: Female fetal sex and low PlGF are notorious predictors of perinatal death in preterm PE, only surpassed by early GA at birth. Full article

Fetal ventriculomegaly (VM) is a defect of the central nervous system, typically diagnosed during the second-trimester ultrasound in fetuses with an atrial diameter (AD) of >10 mm. Non-isolated ventriculomegaly (NIVM) is heterogeneous in nature, coexisting with additional intracranial and/or extracranial malformations and genetic syndromes, resulting in an unfavorable prognosis for the further development of the child. Both the pregnancy management and counseling are dependent on the findings of combined ultrasound/MRI, genetic testing, and gestational age at diagnosis. The purpose of this review is to propose a hypothesis that diagnostic advancements allow to define the process of identification of the isolated forms of VM (IVM). Based on the evidence presented in the literature, we consider whether prenatal decompression for severe isolated VM (ISVM) is supported by the experimental trials and whether it might be implemented in clinical practice. Also, we describe the evolution of the diagnostic methods and expert opinions about the previously used prenatal decompression techniques for ISVM. In conclusion, we introduce the idea that fetal surgery centers have either reached or nearly reached the necessary level of expertise to perform such procedures. Endoscopic cystoventriculostomy (ETV) appears to be the most promising, as it is associated with minimal perinatal complications and favorable neurological outcomes in the neonatal period. Randomized trials with long-term neurodevelopmental follow-up of children who underwent prenatal decompression due to ISVM are necessary. Full article

Apert syndrome is an inherited condition with autosomal dominant transmission. It is also known as acrocephalosyndactyly type I, being characterized by a syndrome of craniosynostosis with abnormal head shape, facial anomalies (median hypoplasia), and limb deformities (syndactyly, rhizomelic shortening). The association can suspect the prenatal diagnosis of these types of anomalies. The methodology consisted of revising the literature, by searching the PubMed/Medline database in which 27 articles were selected and analyzed, comprising 32 cases regarding the prenatal diagnosis of Apert syndrome. A series of ultrasound parameters, the anatomopathological abnormalities found, the obstetric results, and the genetic tests were followed. The distribution of imaging results (US, MRI) identified in the analyzed cases was as follows: skull-shaped abnormalities were evident in 96.8% of cases, facial abnormalities (hypertelorism 43.7%, midface hypoplasia 25%, proptosis 21.8%), syndactyly in 87.5%, and cardiovascular abnormalities in 9.3%. The anomalies detected by the ultrasound examination of the fetus were confirmed postnatally by clinical or gross evaluation or imaging. The management of these cases requires an early diagnosis, an evaluation of the severity of the cases, and appropriate parental counseling. Full article

To evaluate perinatal outcomes and risk factors for large for gestational age (LGA; birth weight over 90 percentile) in gestational diabetes diagnosed before 24 gestational weeks and treated with diet therapy alone until delivery (Diet Early gestational diabetes mellitus (Diet Early GDM)), we assessed the maternal characteristics and perinatal outcomes of patients with early GDM (n = 309) and normal glucose tolerance (NGT; n = 309) at Keio University Hospital. The gestational weight gain (GWG) expected at 40 weeks was significantly lower in the Diet Early GDM group than in the NGT group. The Diet Early GDM group exhibited a significantly lower incidence of low birth weight (<2500 g) and higher Apgar score at 5 min than the NGT group. Multiple logistic regression analysis revealed that the pre-pregnancy body mass index and GWG expected at 40 weeks were significantly associated with LGA for Diet Early GDM. No differences were observed in random plasma glucose levels in the first trimester, 75 g oral glucose tolerance test values, and initial increase or subsequent decrease between the two groups. Dietary early GDM did not exhibit a worse prognosis than NGT. To prevent LGA, it might be important to control maternal body weight not only during pregnancy but also before conception. Full article