搜索结果：Fetal diagnosis and therapy

Gestational diabetes mellitus (GDM) is a common pregnancy complication with profound short- and long-term consequences for both mother and offspring. Beyond transient hyperglycemia, GDM represents a multifactorial metabolic condition shaped by the interplay of genetic predisposition, epigenetic regulation, and alterations in the maternal microbiome. Dysbiosis of the gut and reproductive tract microbiota contributes to inflammation, insulin resistance, and dyslipidemia during pregnancy, while microbial metabolites influence placental physiology and epigenetic remodeling of key metabolic and imprinted genes. These modifications, including changes in DNA methylation and non-coding RNA expression, link maternal hyperglycemia and microbial shifts to persistent alterations in gene expression that affect trophoblast activity, fetal growth trajectories, and long-term metabolic risk in offspring. Vertical transmission of maternal microbiota further imprints the neonatal microbiome, establishing an early-life foundation for reproductive and metabolic health. Although current diagnostic criteria and biomarkers remain inconsistent across populations, recent advances highlight the microbiome-epigenome axis as a promising source of predictive markers and therapeutic targets. Interventions such as probiotics, prebiotics, synbiotics, and dietary modulation show potential for improving maternal glycemic control, shaping placental function, and modulating fetal programming, although evidence for long-term efficacy is still emerging. Viewing GDM as both a metabolic stress test and a window of reproductive opportunity underscores the importance of early diagnosis and precision strategies. Integrating microbiome research and epigenetic insights into clinical practice offers new avenues to improve maternal outcomes, optimize fetal development, and reduce the intergenerational transmission of reproductive and metabolic disease risk.

Viral hepatitis during pregnancy represents a heterogeneous group of infections with distinct virological, immunological, and clinical characteristics, resulting in variable maternal and fetal outcomes. Hepatotropic viruses and non-hepatotropic agents may affect the liver during pregnancy, with clinical presentations ranging from asymptomatic conditions to severe complications such as acute liver failure. This manuscript was conducted as a narrative review aimed at providing a comprehensive and clinically oriented overview of viral hepatitis during pregnancy, including epidemiology, virology, immunology, maternal and fetal outcomes, vertical transmission, screening strategies, prevention, and clinical management. A literature search was performed using the PubMed/MEDLINE, Scopus, Embase, and Google Scholar databases focusing primarily on articles published between January 2000 and June 2026. While hepatitis A generally follows a self-limited course, hepatitis B and C are frequently associated with chronic infection and risk of vertical transmission, and hepatitis E is notably linked to increased maternal morbidity and mortality, particularly in the third trimester. Vertical transmission is a central concern, especially for hepatitis B and C, being strongly influenced by maternal viral load, serological status, and obstetric factors. In hepatitis B, perinatal transmission remains a major route of infection, with high rates of chronicity in neonates. In hepatitis C, transmission rates are lower but clinically relevant, particularly in the presence of sexually transmitted coinfections. In contrast, hepatitis E is associated with severe maternal disease and adverse perinatal outcomes, including fetal death and prematurity. Diagnosis relies on clinical suspicion, laboratory evaluation, and specific serological and molecular tests, while screening strategies during prenatal care play a crucial role in early identification and risk stratification. Preventive measures, including vaccination, antiviral therapy, and neonatal immunoprophylaxis, are essential to reduce vertical transmission and improve outcomes. Despite advances, important gaps remain in understanding pathophysiology, optimizing treatment during pregnancy, and ensuring equitable access to care. A comprehensive approach is fundamental to reducing the burden of viral hepatitis in maternal and neonatal health.

Fetal and neonatal alloimmune thrombocytopenia (FNAIT) is a rare condition associated with severe fetal thrombocytopenia and intracerebral haemorrhage. Antenatal management of subsequent pregnancies relies on intravenous immunoglobulin (IVIg); yet, practice varies internationally and UK data are limited. We conducted a national survey to characterise the current antenatal management of FNAIT across UK regional fetal medicine centres using an electronic, scenario-based design. Responses were analysed descriptively, with ≥75% concordance considered strong agreement. Sixteen of 22 regional fetal medicine centres (73%) responded; all respondents were fetal medicine specialists or haematologists. There was strong consensus to treat standard- and high-risk pregnancies associated with anti-human platelet antigen (HPA)1a or anti-HPA5b antibodies using weekly IVIg, most commonly at a dose of 1 g/kg/week. Earlier initiation of IVIg was favoured for high-risk pregnancies, while timing was more variable for standard-risk cases. Corticosteroids were not routinely used in standard-risk pregnancies but were considered in high-risk scenarios. Fetal blood sampling and intrauterine platelet transfusion were generally avoided. Considerable variation was observed in delivery planning and in the management of pregnancies at risk without a prior confirmed diagnosis. This survey demonstrates the areas of both consistency and variation in UK practice, highlighting gaps in the evidence base and priorities for future research and guidelines development.

Cytomegalovirus (CMV) remains one of the most relevant congenital and early-life infections in pediatrics because of its high global seroprevalence, lifelong latency, and potential for reactivation or reinfection. Biologically, the virus poses a particular threat during pregnancy, when maternal primary infection carries a substantially higher risk of transplacental transmission than non-primary infection, with fetal and neonatal consequences that vary according to gestational timing and host vulnerability. In children, CMV infection is common in the first years of life and may contribute to a broad spectrum of outcomes, ranging from asymptomatic infection to severe multisystem disease, neurodevelopmental impairment, and sensorineural hearing loss. Clinically, the document highlights the importance of timely maternal diagnosis, differentiation between primary and recurrent infection, and integration of prenatal, neonatal, radiological, and audiological assessment. Attention is given to symptomatic and asymptomatic newborns, preterm infants, and infants exposed through breast milk. The availability of antiviral strategies in pregnancy and infancy strengthens the rationale for early identification and risk stratification. Universal newborn screening emerges as a potentially valuable approach to improve case detection, enable prompt follow-up, and reduce long-term disability. Overall, a multidisciplinary and early-intervention framework is essential to optimize prevention, diagnosis, treatment, and long-term outcomes in pediatric CMV infections.

Bronchopulmonary sequestration (BPS) is a congenital pulmonary malformation that, in severe cases, can lead to fetal hemodynamic compromise, hydrothorax, mediastinal shift, and an increased risk of neonatal airway obstruction. Objective ultrasound-based parameters such as the congenital pulmonary airway malformation volume ratio (CVR), mediastinal shift, and the tracheoesophageal displacement index (TEDI) have been proposed as key predictors of perinatal complications. The EXIT (Ex Utero Intrapartum Treatment) procedure enables secure airway management in neonates at risk of severe obstruction. We report the case of a 27-year-old pregnant patient at 29 weeks gestation diagnosed with left extra lobar BPS, with a CVR of 1.7, associated hydrothorax, and mediastinal shift. The fetus underwent laser ablation of the feeding vessel and thoracoamniotic shunting, with improvement in ultrasound parameters. At 36 weeks, persistent residual hydrothorax and a TEDI of 16 were documented, prompting a planned EXIT procedure. An endoscopic-guided intubation technique, termed FETAL (Fetus Establish Tracheal Access for Lifeguard), was developed and successfully employed for airway access. The neonate underwent definitive postnatal surgical resection with favorable postoperative recovery. This case illustrates the importance of a stepwise management strategy guided by objective sonographic predictors. An initially elevated CVR supported the indication for fetal intervention with laser ablation and thoracoamniotic shunting. The persistence of hydrothorax and a high TEDI score subsequently indicated the need for advanced airway management via EXIT. The FETAL technique, developed by our team, enabled guided endoscopic intubation with direct visualization, reducing the risk of inadvertent esophageal intubation. This sequence of clinical decisions reflects a personalized, multidisciplinary and evidence-based approach. A structured strategy allowed timely intervention at each stage of fetal management, optimizing the perinatal outcome. The FETAL technique represents a safe and effective alternative for fetal airway management during EXIT in selected cases at high risk of tracheal obstruction.

Tubal ectopic pregnancy remains a potentially life-threatening condition despite advances in early diagnosis and management. Although methotrexate (MTX) is widely used in clinically stable patients, treatment escalation and tubal rupture may still occur. This study primarily aimed to evaluate MTX treatment outcomes and identify pretreatment clinical, laboratory, and ultrasonographic factors associated with tubal rupture during MTX therapy in tubal ectopic pregnancy. This single-center retrospective cohort study included women with confirmed tubal ectopic pregnancy managed between October 2023 and June 2025. According to the pre-established institutional protocol, patients received either primary surgical treatment or first-line systemic methotrexate treatment. Only cases with tubal localization confirmed by follow-up transvaginal ultrasonography and/or intraoperative findings were included. MTX was administered using a single-dose regimen (50 mg/m2), with a second dose given in clinically stable patients when indicated. Requirement for a second MTX dose was considered treatment escalation rather than treatment failure; MTX failure was defined as the need for surgical intervention. Demographic, clinical, laboratory, and ultrasonographic variables were analysed. Receiver operating characteristic (ROC) curve analysis was performed to evaluate the predictive value of baseline &#x3b2;-human chorionic gonadotropin (&#x3b2;-hCG) levels and ectopic mass size for tubal rupture during MTX therapy. A total of 194 women were included; 54 (27.8%) underwent primary surgery and 140 (72.2%) received MTX as initial treatment. Among MTX-treated patients, single-dose MTX was successful in 94 patients (67.1%), 24 (17.1%) required a second dose, and tubal rupture requiring surgical intervention occurred in 22 (15.7%). Patients who developed rupture had significantly higher baseline, day-4, and day-7 &#x3b2;-hCG levels, larger ectopic mass size, and a markedly higher frequency of free intraperitoneal fluid compared with those successfully treated with MTX (all p < 0.05). The decline in &#x3b2;-hCG levels between days 4 and 7 was significantly lower in patients requiring treatment escalation or developing rupture (p < 0.001). Although fetal cardiac activity was numerically more frequent in the MTX-related rupture subgroup, this difference was not statistically significant after analysis with the Fisher-Freeman-Halton exact test. Gestational age at presentation was significantly greater in patients who later developed MTX-related rupture than in those who underwent primary surgery (p = 0.009). Receiver operating characteristic analysis demonstrated excellent discriminative performance for baseline &#x3b2;-hCG (area under the curve [AUC] = 0.869; 95% confidence interval [CI], 0.769-0.970; p < 0.001; cut-off = 1670 mIU/mL; sensitivity 95.2%, specificity 77.1%) and good discriminative performance for ectopic mass size (AUC = 0.766; 95% CI, 0.632-0.900; p = 0.001; cut-off = 30 mm; sensitivity 68.4%, specificity 87.7%). Baseline &#x3b2;-hCG level and ectopic mass size are clinically useful pretreatment predictors of tubal rupture during MTX therapy in tubal ectopic pregnancy. Incorporating these variables into pretreatment risk stratification may improve patient selection, counselling, and safety during medical management.

Rh isoimmunisation remains a major cause of hemolytic disease of the fetus and newborn, particularly when fetal anaemia develops early in gestation. Antenatal intravenous immunoglobulin (IVIG) has been proposed to improve fetal outcomes, but evidence remains limited, especially from low- and middle-income settings. This study was conducted at a tertiary care centre in India and included pregnant women with severe anti-D isoimmunisation managed between 2023 to 2025. Inclusion criteria was pregnant women, with a previous pregnancy complicated by hydrops with perinatal death and/or requirement of intrauterine transfusion (IUT) before 24 weeks. They received antenatal IVIG (1 g/Kg/week from 13-14 weeks for 4-6 doses) and were compared with cases managed without IVIG. Outcomes analysed included presence of fetal hydrops, the requirement for IUT and the total number of IUTs, gestational age at first IUT, gestational age at delivery, and pregnancy outcome (live birth, stillbirth, or abortion) and neonatal outcomes. Thirty four pregnancies were included with17 managed with IVIG and 17 managed without IVIG based on the timing of referral. The incidence of fetal hydrops was significantly lower in the IVIG group [5.9% vs 52.9%, p = 0.008], and preterm delivery occurred less frequently [70.5% vs 100%, p = 0.04]. The need for IUT, gestational age at first IUT, number of IUTs, gestational age at delivery, and birth weight were comparable between groups. Live birth rate and survival at discharge were higher in the IVIG group, though differences did not reach statistical significance. Infusion-related reactions occurred in 17.6% of IVIG-treated patients and were mild. Antenatal IVIG was associated with reduced fetal hydrops and preterm delivery in severe Rh isoimmunised pregnancies. However, these findings should be interpreted with caution, as improved outcomes may also reflect earlier referral, surveillance, and intervention.

The aim of the study was to explore preliminary associations between antenatal sonographic parameters and early childhood neurodevelopmental outcomes in fetuses with fetal growth restriction (FGR) or small for gestational age (SGA). FGR was defined as estimated fetal weight (EFW) <3rd percentile or abnormal Doppler. SGA was defined as EFW 3rd-10th percentile with normal Doppler. This pilot exploratory study (n = 32; 28 FGR, 4 SGA) included infants with available Bayley-III Scales of Infant and Toddler Development (BSID-III) scores from a larger prospective cohort of 90 FGR/SGA pregnancies. Sonographic parameters from the final predelivery ultrasound included abdominal circumference (AC), umbilical vein flow (UVF), corpus callosum length, cerebellar vermian height, transverse cerebellar diameter, and insular circumference-to-head circumference (IC/HC) ratio. Associations between sonographic parameters and BSID neurodevelopmental outcomes were assessed. Multivariate linear regression model was constructed for each BSID scale using significant predictors. In this subset, AC (r = 0.516, p = 0.003) and EFW (r = 0.462, p = 0.008) were associated with motor scores; UVF was associated with language (r = 0.545, p = 0.001) and total scores (r = 0.440, p = 0.012); and IC/HC was associated with adaptive behavior (r = -0.478, p = 0.006). In multivariable models, AC remained associated with motor outcomes (&#x3b2; = 0.369, 95% CI 0.04-1.08), UVF with language outcomes (&#x3b2; = 0.408, 95% CI 0.07-0.67), and IC/HC with adaptive behavior (&#x3b2; = -0.474, 95% CI -826.04 to -170.78). After adjusting for gestational age at delivery, UVF and IC/HC associations remained significant. Findings should be interpreted cautiously, given the small sample size. AC, UVF, and IC/HC may have preliminary associations with early neurodevelopmental outcomes. These findings are hypothesis-generating and warrant validation in larger cohorts before clinical application.

Advances in fetal diagnosis and therapy have created a need for clinicians with expertise spanning prenatal assessment and neonatal care. Current maternal fetal medicine and neonatology training pathways remain largely separate, leaving gaps in knowledge of placental pathology, fetal surveillance, antenatal interventions, and their neonatal consequences. We propose a fetoneonatology fellowship for graduates of neonatal and potentially obstetric residency programs at academic centers with maternal fetal medicine services, Level IV neonatal intensive care units, and placental pathology expertise. The three-year curriculum would include one year of fetal medicine and placental biology and two years of neonatal intensive care training integrated through a Fetal Neonatal Bridge Curriculum. An optional advanced track would emphasize continuity care, research, and artificial intelligence-supported practice. This model aims to improve prenatal neonatal correlation, trainee preparedness, and family communication, and could evolve from a super fellowship into an accredited subspecialty.

Pregnancy-associated venous thromboembolism (pVTE) is a notable cause of maternal morbidity and mortality. Yet, robust comparisons across studies are hampered by inconsistencies in outcome reporting. This study determined the state of outcome reporting in studies addressing prevention and management of pVTE. In this scoping review, we searched 7 databases including Medline, Embase, the Cochrane databases and 3 international trial registries. Clinical trials, registrations, and observational studies (prospective and retrospective) focusing on prevention or management of pVTE, published in English between 1998 and November 2018, were included. We recorded study characteristics, reported outcomes and their definitions, and categorized outcomes in accordance with a published taxonomy for outcomes in medical research. We conducted descriptive analysis to demonstrate variation in reporting and definition of outcomes and the representation of outcomes by categories in the taxonomy. Of 7541 results, 70 studies were included. We extracted 387 outcomes and consolidated these to a final list of 35 outcomes. All studies reported clinical/physiological maternal outcomes, while fewer reported on maternal mortality (10/70), life impact/functioning (8/70), adverse events (27/70), and resource use (6/70). Fetal outcomes were reported in 32 of 70 studies. There was little consistency in outcome definition. Considerable variation exists in the reporting and definition of outcomes in studies addressing pVTE, with lack of representation from core areas other than clinical/physiological outcomes. Further work to standardize outcome reporting, and incorporation of patient-important outcomes in future research will be indispensable to advance evidence-informed and patient-centered care for this population.

The objective of this study was to assess the postnatal cerebrospinal fluid diversion (CSFD) rates and associated prenatal risk factors (RFs) in patients with open fetal spina bifida (fSB) repair over a 4-year follow-up. In 185 patients, CSFD rate was determined at 1 year and incremental risk (IR) for CSFD at 2 and 4 years. Characteristics of children without CSFD were compared to those with CSFD, and multiple regression analysis evaluated RF. Sixty-four children (35%) needed CSFD within the first year. These children had larger head circumference (HC) at screening (p = 0.001) and before delivery (p < 0.001) and larger ventricles at screening (Vp screening) and before delivery (Vp delivery) (each p < 0.001). Multiple regression identified only Vp screening, Vp delivery, and their delta as independent RF for CSFD. Vp values were higher in children needing CSFD within the first year compared with years 2-4 (p < 0.001 and p = 0.01), and larger Vp was associated with earlier CSFD in the first year (p = 0.02). IR for CSFD declined over follow-up. The 1-year CSFD rate after open fSB repair was 35%, with decreasing IR through year four. Larger Vp at screening, before delivery, and their delta were independent RF for CSFD, while HC was not.

Pulmonary hypoplasia and severe pulmonary hypertension associated with severe oligo/anhydramnios may be mitigated by amnioinfusion in fetal bilateral renal agenesis (BRA). We report fetal cardiovascular testing in liveborn BRA subjects of the Renal Anhydramnios Fetal Therapy (RAFT) Trial. Fetuses in the BRA RAFT trial cohort underwent third trimester echocardiography with maternal hyperoxia (MH). Echocardiographic parameters, compared between baseline and MH, are presented for expectant management and amnioinfusion participants using descriptive and inferential statistics. Of 20 BRA pregnancies, 17 had amnioinfusions and 3 expectant management; 13 had fetal echocardiograms. Middle cerebral artery pulsatility index (PI) increased with MH (1.82 vs. 2.12, P=0.032), as tended umbilical artery PI (0.89 vs 1.02, P=0.056), without change in cardiac output or right ventricular percentage of the output, as expected. Fetuses in the intervention arm showed significant decrease in pulmonary artery PI; compared to no decrease or an increase in the control arm. All fetuses with clear reactivity had favorable respiratory status at 30 days of life. Minimal reactivity (<10%) was not predictive of poor outcome. Pulmonary artery branch dimensions were significantly larger in the treated fetuses. Fetal echocardiography with MH provides antenatal evidence of rescued pulmonary phenotype in BRA fetuses undergoing serial percutaneous amnioinfusions.

Posterior fossa anomalies (PFAs) encompass a spectrum of central nervous system malformations affecting the cerebellum, brainstem, and surrounding cerebrospinal fluid spaces. This study evaluates the prenatal diagnosis, genetic findings, and pregnancy outcomes of PFAs in a tertiary care setting in India. A retrospective analysis was conducted on 35 cases of PFAs diagnosed via prenatal ultrasound and fetal MRI between January 2023 and May 2024. Anomalies were classified based on standard criteria, and genetic testing (karyotypte, chromosomal microarray analysis and whole exome sequencing) was offered. Pregnancy outcomes, including termination, live birth, and neonatal survival, were documented, with short-term neurodevelopmental follow-up conducted via telephonic inquiries. The most common PFAs identified were Vermian Agenesis/Hypoplasia (VA/VH) and Cerebellar Hypoplasia (CH), each accounting for 25.71% of cases, followed by Dandy-Walker Malformation (20%). Isolated PFAs were observed in 37.14% of cases, while 62.85% had additional anomalies. Genetic testing was performed in 74.2% of cases, revealing variants in 5.71%. Karyotyping was performed in all tested cases and yielded normal results, while additional molecular testing with chromosomal microarray analysis (5 cases) and whole-exome sequencing (3 cases) detected clinically relevant variants in selected fetuses with posterior fossa anomalies. Among the 35 pregnancies, 65.71% opted for termination, facilitated by the Medical Termination of Pregnancy (MTP) Act, particularly for cases diagnosed beyond 24 weeks of gestation. Of the 9 live births, 2 neonates with vermian hypoplasia (5.71%) died within one month, while 6 (17.14%) had normal developmental milestones at 6 months including 6 babies with mega cisterna magna and one with an arachnoid cyst. One infant exhibited delayed milestones. PFAs present with diverse prognostic implications, necessitating detailed imaging, genetic evaluation, and individualized counseling. The MTP Amendment Act, played a crucial role in providing extended access to termination in pregnancies with severe PFAs and poor prognoses.

Background Approximately half of twin-to-twin transfusion syndrome (TTTS) cases are complicated by selective fetal growth restriction (sFGR). Although fetoscopic laser photocoagulation (FLP) is the standard treatment, perinatal outcomes in cases with concomitant sFGR-particularly according to single or dual fetal survival after laser-are not well established. Objective To compare post-FLP obstetrical and neonatal outcomes between TTTS+sFGR and isolated TTTS, with separate analyses in pregnancies with immediate single or dual fetal survival. Design This was a retrospective cohort study including all TTTS cases treated with FLP at a single institution between November 2011 and April 2023. TTTS was diagnosed according to Quintero criteria. Outcomes included immediate post-FLP fetal demise (48-hour after FLP), preterm premature rupture of membranes (PPROM), gestational age (GA) at delivery, and neonatal survival, according to post-FLP single or dual fetal survival. Results Among 424 cases, 188 (44.3%) had TTTS+sFGR. Gestational age and cervical length at FLP were similar between groups, but TTTS+sFGR cases showed more severe disease, with a higher proportion of Quintero stage III. Dual fetal survival after FLP was lower in TTTS+sFGR compared with iTTTS (79.6% vs. 88.5%). In pregnancies with single fetal survival post-FLP, TTTS+sFGR was associated with higher rates of delivery before 32 weeks (p=0.03) and increased post-FLP PPROM (p=0.03). Ex-donor fetuses in this group had significantly lower survival at birth and at 30 days compared with iTTTS. In cases with dual survival post-FLP, ex-donor survival at birth and at 30 days remained lower in TTTS+sFGR, while no other perinatal outcomes differed. Conclusion When stratified by immediate single or dual post-FLP survival, pregnancies with TTTS complicated by sFGR showed consistently worse obstetrical and neonatal outcomes compared with isolated TTTS, particularly due to reduced ex donor survival across both groups.

We aim to describe the feasibility and outcomes of fetuses with occipital encephalocele treated with intrauterine repair by open microneurosurgery. Between 2021 and 2025, a consecutive cohort of fetuses with occipital encephalocele referred to 2 fetal surgery centers in Nicaragua and Mexico were selected for intrauterine correction by open fetal microneurosurgery. Inclusion criteria were fetuses at less than 28 weeks with isolated occipital encephalocele, Chiari III malformation (obliteration of the cisterna magna with protrusion of cerebral tissue), and microcephaly. We report the procedure-related characteristics, perinatal and neurological outcomes (hydrocephalus, meningitis, seizures, cognitive delay, motor dysfunction, and visual impairment) within the first 12 months of age. Twelve cases were evaluated during the study period but only 6 cases were selected for fetal intervention. Open fetal microneurosurgery was successfully performed in all cases at a median gestational age (GA) of 25+2 weeks+days, with a median surgical time of 93 min. Regression of Chiari and reversal of microcephaly was observed in 4/6 and 6/6 cases, respectively. The median GA at birth was 36+5 weeks+days. Preterm rupture of the membranes and preterm delivery was reported in 3/6 cases. No cases of perinatal death were reported. Within the first 12 months of age, none of the children developed meningitis, cognitive delay, or hydrocephalus requiring ventriculoperitoneal shunting. Motor dysfunction, seizures, and visual disorders were reported in 1/6, 1/6, and 3/6 cases, respectively. In this small series of fetuses with occipital encephalocele, open fetal microneurosurgery was feasible and was associated with promising outcomes.

Toxoplasmosis is a widespread protozoan infection that exhibits increased pathogenicity in its congenital form. The diagnosis and management of this condition require high accuracy and rapid intervention throughout the maternal-fetal and neonatal periods. The aim of this review is to provide an updated overview of screening and diagnostic confirmation strategies for congenital toxoplasmosis, covering prenatal screening, neonatal assessment and long-term follow-up. It also examines therapeutic options for prenatal treatment based on gestational age. Diagnostic strategies for congenital toxoplasmosis remain highly heterogeneous worldwide, ranging from intensive prenatal screening to a complete absence of systematic testing. When implemented, screening programs promote early diagnosis and treatment, with a positive impact on transmission and disease severity. The recent withdrawal of various key serological tests has forced laboratories to adopt and validate alternative diagnostic algorithms in complex situations. Pyrimethamine-sulfonamide is the cornerstone of treatment, but its toxicity profile remains a major limitation of current management. Cotrimoxazole appears to be a better-tolerated alternative that warrants consideration, although studies are still scarce.

The aim of the study was to evaluate the association between fetal right pulmonary artery (RPA) parameters and postnatal ductus arteriosus velocity-time integral (DA VTI) ratios in neonates with mild or moderate left-sided congenital diaphragmatic hernia (L-CDH), and their predictive value for clinical outcomes. In this prospective cohort study, 49 fetuses with mild or moderate L-CDH were evaluated between 2012 and 2018. RPA diameter and pulsatility index (PI) were measured at 19-24, 25-29, and 30-32 weeks of gestational age (GA). Postnatal DA VTI ratios were assessed at initial echocardiography after birth. An abnormal DA VTI ratio (<1.0) served as the primary outcome. Associations between prenatal RPA parameters, postnatal DA VTI ratios, and neonatal outcomes were analyzed. A smaller RPA diameter at 30-32 weeks of GA was associated with an abnormal DA VTI ratio (p = 0.015). An RPA diameter cutoff of 2.71 mm yielded 60% sensitivity and 84% specificity (area under the curve = 0.74, p = 0.005). Neonates with abnormal DA VTI ratios had higher rates of pulmonary hypertension treatment, need for extracorporeal membrane oxygenation, and lower survival. No associations were found between prenatal RPA PI and DA VTI ratios. In mild and moderate L-CDH, smaller RPA diameters in third-trimester associate with abnormal DA VTI ratio on initial echocardiography after birth.

Pulmonary embolism (PE) is a leading cause of death in pregnant and postpartum women. To evaluate the clinical presentation, management and outcomes of pregnancy-related PE managed by a multidisciplinary team. A retrospective review was conducted of pregnant and postpartum women diagnosed with PE between 2018 and 2024 at a tertiary hospital in Johannesburg, South Africa. Pretest probability scores (pregnancy-adapted YEARS and Geneva) were applied in a subgroup with D-dimers available. Seventy-seven women were included: 33 with antepartum and 44 with postpartum PE. The median (interquartile range) age was 29 (9) years, and most were of black African ethnicity. PE risk factors were present in 85% of antepartum and 96% of postpartum cases. Women with antepartum PE more frequently presented with chest pain, shortness of breath and palpitations (p<0.05). Pretest probability scores were assessed in a subgroup with D-dimers available. Based on the pregnancy-adapted YEARS and Geneva scores, imaging would have been required to rule out PE in 87.8% and 73.5% of cases, respectively. Computed tomography pulmonary angiography was the preferred diagnostic modality in 74.0%. Most women (97.4%) were treated as inpatients, and 57% required management in the intensive care and/or high care units. The median length of hospital stay was 14 (8) days. Low-molecular-weight heparin was the most frequently prescribed anticoagulant, with a median treatment duration of 3 (1) months. The live birth rate was 84.4%. One maternal death occurred due to sepsis, unrelated to venous thromboembolism. Antepartum/secondary postpartum major bleeding and primary postpartum major bleeding occurred in 6.5% and 3.9%, respectively. Pregnancy-associated PE managed by a multidisciplinary team was associated with favourable maternal and fetal outcomes.

To evaluate the clinical and economic impact of universal screening for cytomegalovirus (CMV) in pregnant women in Italy, with valacyclovir (VCV) therapy in the case of maternal primary CMV infection, compared with no screening. We developed a decision-analytic model using a deterministic decision tree and compared the no-screening strategy (Scenario&#x2009;1) with universal screening until 13&#x2009;+&#x2009;6&#x2009;weeks' gestation (Scenario&#x2009;2), and universal screening until 23&#x2009;+&#x2009;6&#x2009;weeks' gestation (Scenario&#x2009;3) as recommended by the Italian National Health Service. The model was applied in a hypothetical population of 400&#x2009;000 pregnant women, representative of the annual number of women giving birth in Italy. Only women susceptible to primary CMV infection were considered, in whom CMV screening by serological testing (IgG/IgM testing &#xb1; IgG avidity), followed by VCV treatment (8&#x2009;g/day) in the case of primary CMV infection, is recommended. Outcomes included the numbers of primary maternal CMV infections diagnosed, fetal congenital CMV (cCMV) infections, terminations of pregnancy (TOPs) and symptomatic and asymptomatic neonatal cCMV infections, and the cost per symptomatic cCMV case&#xa0;avoided (in Euros (&#x20ac;)) from the perspective of the Italian National Health Service. Universal screening until 13&#x2009;+&#x2009;6&#x2009;weeks' gestation would identify 910 maternal primary CMV infections. Compared with no screening, it would prevent 92% of symptomatic cCMV infections (183 vs 15 cases) and prevent 70% of TOPs (33 vs 10 cases). Extending the universal screening period to 23&#x2009;+&#x2009;6&#x2009;weeks' gestation would result in 280 additional diagnoses of maternal primary CMV infection and a further 2% and 9% reduction in symptomatic cCMV infections and TOPs, respectively. Both screening strategies would increase costs by approximately &#x20ac;7&#x2009;million compared with Scenario&#x2009;1, with a cost per symptomatic cCMV case avoided of ~&#x2009;&#x20ac;45&#x2009;500 for Scenario&#x2009;2 and ~&#x2009;&#x20ac;44&#x2009;400 for Scenario&#x2009;3. Universal serological CMV screening in pregnancy until 24 weeks' gestation, with VCV treatment in the case of maternal primary infection, substantially reduces the burden of cCMV-related disabilities and appears economically justifiable in the Italian healthcare context. These findings may inform policy decisions in countries with a similar CMV seroprevalence and National Health Service. &#xa9; 2026 The Author(s). Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.