Search Results (37)

Objectives: The increasing use of fetal MRI has increased the diagnosis of posterior fossa malformations, yet the long-term neurodevelopmental outcomes of affected fetuses remain unclear. This study aims to examine the long-term neurodevelopmental outcomes of fetuses with structural posterior fossa malformation diagnosed on fetal MRI. Methods: A historical cohort study was conducted at a single tertiary referral center, including fetuses diagnosed with structural posterior fossa malformations and apparently healthy fetuses who underwent fetal brain MRI between 2011 and 2019. Maternal, pregnancy, and newborn characteristics were compared between groups, alongside long-term neurodevelopmental outcomes using the Vineland Adaptive Behavior Scales II (VABS-II) questionnaire. This included an extensive assessment of malformation types, additional structural, genetic, or neurodevelopmental anomalies, and outcomes. Results: A total of 126 fetuses met the inclusion criteria, of which 70 were apparently healthy fetuses, and 56 had structural posterior fossa malformations. Among the latter, 18 pregnancies were terminated, 4 resulted in neonatal death, and 11 were lost to follow-up. No significant differences were found in the overall neurodevelopmental outcomes between fetuses with structural posterior fossa malformation (93.4 ± 19.0) and apparently healthy fetuses (99.8 ± 13.8). Motor skills scores were lower among fetuses with structural posterior fossa malformations (87.7 ± 16.5 vs. 99.3 ± 17.2, p = 0.01) but remained within the normal range. Conclusion: Fetuses with structural posterior fossa malformations may exhibit normal long-term neurodevelopmental outcomes if no additional anomalies are detected during thorough prenatal screening that includes proper sonographic, biochemical and genetic screening, as well as fetal MRI. Further research with larger cohorts and longer-term assessments is recommended to validate these findings and support clinical decision-making. Full article

Background/Objectives: Infantile hemangioma (IH) is a common vascular tumor in neonates, influenced by multiple prenatal and perinatal factors. This study aimed to identify risk factors in both infants and mothers, assess their link to clinical characteristics and severity, and evaluate treatment outcomes when systemic propranolol therapy was administered. Methods: We conducted a retrospective observational study analyzing 43 infants under 12 months, including 11 neonates (<28 days) diagnosed with IH. Maternal and neonatal factors, diagnostic timelines, clinical presentation, and treatment efficacy were examined. Data analysis included descriptive statistics, focusing on gestational age, birth weight, Apgar scores, and the Infantile Hemangioma Referral Score (IHReS). Results: The study found a female predominance and a correlation between IH and pre-term birth (50%) and low birth weight (<2760 g, 51.16%). Maternal anemia (23%) and gestational hypertension (9%) were present in the cohort, but no statistical association with IH severity was found. A significant number (44.18%) were diagnosed within the first two weeks postpartum. The IHReS was inversely correlated with Apgar scores, with newborns scoring above 8 having a lower IHReS. Treatment with propranolol (1–3 mg/kg/day) was highly effective, resulting in significant lesion regression in most patients. Mild complications included sleep disturbances (12%) and diarrhea (9%). The most affected areas were the face/eyelid (32.55%), limbs (18.6%), and anterior thorax. Additionally, 42% of cases had an IHReS above 4, with multiple hemangiomas increasing severity. Conclusions: IH was common in pre-term and low-birth-weight infants, whereas the maternal comorbidities observed in this small cohort did not show a definitive association, underscoring the need for controlled studies. Early diagnosis, risk stratification, and timely propranolol therapy are crucial in achieving favorable outcomes. Further research is needed to assess long-term effects and evaluate risks of treatment rebound. Full article

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

Congenital heart defects (CHDs) in dogs and cats represent a definite minority of cardiac patients. One of the most commonly diagnosed is ventricular septal defects (VSDs). These are associated with abnormal ventricular septation during the prenatal period; however, the mutations of the genes responsible for this phenomenon are not fully understood. VSDs pose a significant diagnostic challenge due to the multitude of locations in the ventricular septum where they are likely to occur. Therefore, there are many phenotypes of the defect causing many problems in terms of a common nomenclature. Among the various classifications, the latest terminology issued by The International Society for Nomenclature of Paediatric and Congenital Heart Disease (ISNPCHD) considers both electrical conduction pathways and adjacent structures to standardize nomenclature. Further, defects located at different sites can alter both prognosis and subsequent management for the patient; thus, taking accurate measurements is crucial. Among these, the Qp:Qs and VSD:Ao ratios, the direction of blood flow through the defect, its location, the diameter and maximum flow velocity, and the pressure difference between the RV and LV are indicated. Emerging technologies such as 3D echocardiography and cardiac magnetic resonance may provide additional diagnostic value. Altogether, along with clinical symptoms, we should determine further management, involving the monitoring of the patient, the implementation of pharmacological treatment, or referral for surgical closure of the VSD. This review summarizes current knowledge on VSD, where the pathogenesis of the condition, diagnosis, and management, including conventional and surgical methods as well as long-term follow-up, are described, providing a complete overview of the issue. Full article

Background/Objectives: Screening for food insecurity, while common practice in pediatric populations, remains novel in pregnancy. Food insecurity during pregnancy is associated with medical comorbidities that in turn confer additional obstetric risks to the maternal–fetal dyad. Few studies have evaluated the impact of interventions for patients with food insecurity in the prenatal period. This study first demonstrates the ease of FI screening in pregnancy using the Hunger Vital Sign™ and next assesses if providing patients with a referral to a registered dietician decreases the incidence of inappropriate weight gain in pregnant patients with food insecurity. Methods: A retrospective chart review was conducted from November 2019 to March of 2021 at a United States Northeast inner-city hospital-based clinic to identify patients with food insecurity in the prenatal period. All pregnant patients who screened positive for food insecurity were given an educational pamphlet with resources and offered a referral to a registered dietician. We compared the incidence of appropriate weight gain among these patients depending on whether they attended an appointment with a registered dietician. We defined appropriate weight gain following the recommendations of the Institute of Medicine (IOM) based on pre-pregnancy body mass index. Inferential statistics were performed to compare differences using univariate statistics, and multivariate regression was conducted to control for confounders, with an alpha of 0.05. Results: In total, 139 patients screened positive for food insecurity (FI); 52 (37.4%) attended an appointment with a registered dietician. Overall, 88 (61.9%) patients had inappropriate weight gain during pregnancy. Fewer patients who attended a visit with a registered dietician had inappropriate weight gain than those who did not attend a visit (27 [30.7%] vs. 61 [69.3%], p = 0.031, respectively). Both study groups’ demographics, comorbidities, and postpartum outcomes were comparable. Conclusions: We found that for pregnant individuals with food insecurity, consultation with a registered dietician was associated with a decrease in the incidence of inappropriate weight gain during pregnancy. Full article

Background/Objectives: This case study presents the complex management of a neonate with concurrent posterior urethral valves (PUV) and duodenal atresia (DA), highlighting diagnostic challenges due to overlapping and atypical imaging findings. Methods: A retrospective chart review was performed with a focus on pre- and postnatal imaging and clinical findings throughout the patient’s course of care. Results: A 32-week gestational referral revealed polyhydramnios, a double-bubble sign, and hydronephrosis. DA-associated polyhydramnios masked the expected oligohydramnios and other in utero sonographic signs of PUV, complicating prenatal diagnosis. Postnatally, early urethral stenting for DA repair obscured typical PUV imaging. PUV diagnosis was confirmed by cystoscopy on day 73. Conclusions: We emphasize the importance of multidisciplinary care and appreciating diagnostic uncertainties in neonates with concurrent obstructive uropathy and intestinal obstruction. Full article

Background: NIPT is a widely implemented method for prenatal screening of chromosomal disorders. Its introduction initiated the practice of counseling women pre- and post-analytically. Since the test’s usage is established in different conditions, comparing data from various socioeconomic and cultural backgrounds would be of scientific value. Our study is the first to describe NIPT integration in Bulgaria. We aimed to evaluate current trends in demand and referral, the frequency of high-risk results, cases of fetal sex discrepancies and their impacts, as well as commonly held misconceptions during genetic counseling. We also address issues and necessary general prophylaxis and prenatal care improvements. Methods: We performed a retrospective analysis on the pregnant women who received GC for NIPT in our genetic center between 2016 and 2023. We separated this period into two due to a significant difference in the test’s price. A total of 635 women were included with their referral indications, panel width preference, fetal sex, and SCA. We assessed cases of fetal sex discrepancy, high-risk pregnancies, late NIPT (after GW 18), and commonly occurring issues and misconceptions. Results: We observed a significant increase in the demand for NIPT—63 women for 2016–2020 versus 572 for 2021–2023. The leading indications were supervision of normal pregnancy (50.4%) and advanced maternal age (>35 years) (31.2%). As for late NIPT, the most common indications for this late testing were high risk from a maternal serum screening test (33.3%) and anxiety (25%). Further, 1.1% of results were high-risk for trisomy 18 and 21 and monosomy X. We reviewed two cases of fetal sex discrepancy (0.3%) and common misconceptions twice more during pre-test GC. Conclusions: This single-center experience shows that demand for NIPT is exponentially growing, especially as a normal pregnancy screening method. Delivering thorough education to the community and guaranteeing outstanding care during genetic counseling sessions is crucial for fostering informed decisions and overall well-being. Full article

Urinary tract dilations (UTDs) are the most frequent prenatal renal anomaly. The spectrum of etiologies causing UTD ranges from mild spontaneously resolving obstruction to severe upper and lower urinary tract obstruction or reflux. The early recognition and management of these anomalies allows for improved renal endowment prenatally and ultimately better outcome for the child. The role of the general obstetrician and pediatrician is to recognize potential prenatal and postnatal cases addressed to their practice and to refer patients to specialized pediatric nephrology and urology centers with a sense of the urgency of such a referral. The aim of this paper is to offer clinical recommendations to clinicians regarding the management of neonates and children born with prenatally detected UTD, based on a consensus between Swiss pediatric nephrology centers. The aim is to give suggestions and recommendations based on the currently available literature regarding classifications and definitions of prenatal and postnatal UTD, etiologies, prenatal and postnatal renal function evaluation, investigations, antibiotic prophylaxis, and the need for referral to a pediatric nephrologist and/or urologist. The overarching goal of a systematic approach to UTD is to ultimately optimize kidney health during childhood and improve long-term renal function prognosis. Full article

Objective: To assess the prenatal course and early postnatal outcomes of fetuses diagnosed with tricuspid atresia and to identify predictors of survival. Methods: This was a retrospective study of 25 fetuses diagnosed with tricuspid atresia in a single tertiary referral center, evaluating prenatal echocardiographic features and postnatal outcomes. Results: A total of 4 of 29 initially diagnosed fetuses were excluded due to changes in diagnosis or loss to follow-up, leaving 25 fetuses for analysis. Of these, 16 (64%) had concordant VA alignment, 8 (32%) had discordant VA connections, and 1 had a double-outlet left ventricle (DOLV). Pulmonary stenosis was observed in 13 fetuses, and 10 (40%) had extracardiac anomalies. Genetic testing, performed in 5 cases, identified a chromosomal anomaly in one case (trisomy 18). Overall, three pregnancies were terminated due to severe associated anomalies. Among the 22 liveborn infants, survival at 12 months was 72%. Restrictive ventricular septal defect (VSD) and the high ductus venosus pulsatility index were significantly associated with lower survival (p = 0.021 and p = 0.034, respectively). Conclusions: Tricuspid atresia can be accurately diagnosed in utero with a thorough echocardiographic evaluation. Restrictive VSD and outflow tract obstructions are critical determinants of early survival, while abnormal DV Doppler patterns may serve as additional markers for adverse outcomes. More extensive studies are needed to validate these findings and improve prognostic counseling. Full article

Introduction: Antenatal diagnosis of cardiac abnormalities and counselling parents about postnatal care require a multidisciplinary team, which includes a paediatric cardiologist, a neonatologist, and a fetal medicine physician. Some of these kinds of expertise are not available in all centres with fetal medicine expertise. However, with modern technology, this could be provided remotely. Our objective was to assess the feasibility and outcomes of prenatal multidisciplinary tele-echocardiography diagnostic and counselling services. Materials and Methods: Two centres based in separate countries provided a joint diagnostic and counselling service over a period of 14 months. The primary centre performed the fetal echocardiography with a Voluson E10 machine, and images were transmitted live using Zoom OPS system with video-consultation and counselling. The fetal echo was performed using the ISUOG Guidelines check list. Results: There was an initial feasibility period of 2 months during which 10 women whose fetuses had normal hearts were scanned to test the workability of the system. Over a period of 12 months, 513 high-risk fetuses were then scanned, and out of these, 27 had congenital malformations. The most common were hypoplastic left heart syndrome (HHLS) and atrio-ventricular septal defect. Tele-echocardiography and counselling were successful in all the cases. Satisfaction with the service was 3.8/4, with the main limitation being the need for further referral to a tertiary centre for delivery. Conclusions: Tele-echocardiography is reliable, and when combined with live counselling and support from a paediatric cardiologist, it is an option acceptable to patients. The greatest benefit was from being counselled by a team of experts at a single consultation rather than having to travel to another centre for consultation. With rapidly evolving technology, making video transmission easier and less expensive, we feel that consideration should be given not only to the development of tele-echocardiography but also to extending it to other aspects of fetal medicine. Full article

Background/Objectives: Truncus arteriosus communis (TAC) is a rare congenital heart defect characterized by a single arterial trunk that supplies systemic, pulmonary, and coronary circulations. This defect, constituting approximately 1–4% of congenital heart diseases, poses significant challenges in prenatal diagnosis, management, and postnatal outcomes. Methods: A retrospective analysis was conducted at the local tertiary referral center on cases of TAC diagnosed prenatally between 2019 and 2024. Additionally, a systematic literature review was performed to evaluate the accuracy of prenatal diagnostics and the presence of associated anomalies in fetuses with TAC and compare already published data with the local results. The review included studies that especially described the use of fetal echocardiography, the course and outcome of affected pregnancies, and subsequent management strategies. Results: The analysis of local prenatal diagnoses revealed 14 cases. Of the 11 neonates who survived to birth, the TAC diagnosis was confirmed in 7 instances. With all seven neonates undergoing surgery, the intention-to-treat survival rate was 86%, and the overall survival rate was 55%. By reviewing published case series, a total of 823 TAC cases were included in the analysis, of which 576 were diagnosed prenatally and 247 postnatally. The presence of associated cardiac and extracardiac manifestations as well as genetic anomalies was common, with a 22q11 microdeletion identified in 27% of tested cases. Conclusions: Advances in prenatal imaging and early diagnosis have enhanced the management of TAC, allowing for the detailed planning of delivery and immediate postnatal care in specialized centers. The frequent association with genetic syndromes underscores the importance of genetic counseling in managing TAC. An early surgical intervention remains crucial for improving long-term outcomes, although the condition is still associated with significant risks. Long-term follow-up studies are essential to monitor potential complications and guide future management strategies. Overall, a coordinated multidisciplinary approach from prenatal diagnosis to postnatal care is essential for improving outcomes for individuals with TAC. Full article

(1) Background: Prenatal depression, maternal anxiety, puerperal psychosis, and suicidal thoughts affect child welfare and development and maternal health and mortality. Women in low-income countries suffer maternal mental health issues in 25% of cases during pregnancy and 20% of cases thereafter. However, MMH screening, diagnosis, and reporting are lacking. The primary goals of the present study are twofold, as follows: firstly, to evaluate the importance of screening maternal mental health to alleviate perinatal depression and maternal anxiety, and, secondly, to analyze research patterns and propose novel approaches and procedures to bridge the current research gap and aid practitioners in enhancing the quality of care offered to women exhibiting symptoms of perinatal depression. (2) Methods: We conducted a bibliometric analysis to analyze the research topic, using the bibliometric tools Biblioshiny and VOSviewer, as well as the R statistical programming language. To accomplish our goal, we obtained a total of 243 documents from the Scopus and PubMed databases and conducted an analysis utilizing network, co-occurrence, and multiple correlation approaches. (3) Results: Most of the publications in the field were published between the years 2021 and 2024. The results of this study highlight the significance of shifting from conventional screening methods to digital ones for healthcare professionals to effectively manage the symptoms of maternal mental health associated with postpartum depression. Furthermore, the results of the present study suggest that digital screening can prevent maternal physical morbidity, contribute to psychosocial functioning, and enhance infant physical and cognitive health. (4) Conclusions: The research indicates that it is crucial to adopt and include a computerized screening practice to efficiently and immediately detect and clarify the signs of prenatal to neonatal depression. The introduction of digital screening has led to a decrease in scoring errors, an improvement in screening effectiveness, a decrease in administration times, the creation of clinical and patient reports, and the initiation of referrals for anxiety and depression therapy. Full article

The prevalence of prenatal tobacco exposure remains high in many countries, particularly in southern Europe. The aims of this study were to estimate the prevalence of smoking among pregnant women in a southern Spanish city (Seville) and to identify the associated sociodemographic and obstetric characteristics. In a descriptive, cross-sectional study, a random sample of pregnant women who were scheduled to undergo a morphology scan at their public referral hospital in their 20th week of gestation were interviewed in person. At the start of pregnancy, 38.2% of the pregnant women were smokers. In the twentieth week, 19.1% continued to smoke, and the same percentage had quit. The prevalence of smoking in pregnant women was higher among those with a low level of education (60% among pregnant women with no studies and 30.4% in those with primary education) and among those who had had abortions (38.5%). Pregnant smokers with obesity were the least likely to have given up smoking during pregnancy. Women with a lower educational level should be a prime target for cross-sectoral interventions aimed at preventing prenatal tobacco exposure. Implementation of support measures for providing effective clinical advice in preconception and prenatal care regarding healthy lifestyles is particularly needed. Full article

Newborn screening for sickle cell disease (SCD) is sparse in sub-Saharan Africa. The leadership of the Aminu Kano Teaching Hospital (AKTH) in Kano, Nigeria, with the support of local religious authorities, established a groundbreaking SCD newborn screening program that has become the standard of care for pregnant women and their newborns. Our program includes (1) prenatal genetic counseling for all pregnant women in the antenatal clinic, (2) newborn screening, (3) postnatal genetic counseling for parents of newborns diagnosed with SCD and SCT, and (4) referral of newborns with SCD for follow-up in the SCD Comprehensive Care Clinic by 3 months of age. From September 2020 to December 2023, the team screened 7530 infants for SCD at the AKTH, identifying 126 (1.7%) infants with SCD and 1546 (20.5%) with SCT. Of these, 93 (73.8%) newborns with SCD received individualized genetic counseling, and 43 (46%) were referred to the SCD Comprehensive Care Clinic before 3 months. Group genetic counseling was provided to the parents of 778 (50.3%) of newborns identified with SCT. The SCD newborn screening at the AKTH is now standard care, indicating the viability of sustaining an SCD newborn screening program that provides pre- and postnatal genetic counseling and comprehensive SCD care within a low-income setting. Full article

Pregnancies complicated by severe polyhydramnios are associated with a high rate of underlying fetal anomaly. Amnioreduction may be offered to alleviate maternal symptoms. This is a retrospective study of amnioreductions performed on singleton and twin gestations complicated by symptomatic polyhydramnios between 2010 and 2023 at our tertiary referral center. The indications, procedural techniques and pregnancy and neonatal outcomes were retrieved from an archive database and reviewed with the use of the maternal and child medical record chart, the hospital electronic clinical discharge report and telephone recalls. Our study comprised 86 pregnancies, 65 singletons and 21 twin pregnancies. Fetal anomalies were identified in 79% of cases, mainly gastrointestinal obstructive anomalies; 9.3% of cases were idiopathic. The median gestational age at first amnioreduction was 32.5 weeks, and peri-procedural complications were rare (1 case of placental abruption and 2 cases of preterm delivery). The median gestational age at delivery was 36.5 weeks, with a median prolongation of the pregnancy from the time of first drain until birth of 30 days. Preterm labor < 37 weeks occurred in 48.8% of procedures, with 26.7% of patients delivering before 34 weeks and pPROM < 36 weeks recorded in 23.2% of cases. In conclusion, amnioreduction offered to alleviate maternal symptoms is a reasonably safe procedure with a low complication rate. These pregnancies necessitate management in a tertiary referral center because of their need for a multidisciplinary approach both prenatally and postnatally. Full article