This study evaluated fetal MRI lung measurements with ECMO use and survival of prenatally diagnosed CDH.

Currently, risk stratification criteria and indications for early postnatal resection of high-risk congenital lung malformations (CLM) are not universally accepted. In this study, we sought to characterize prenatal risk factors and outcomes associated with early postnatal resection in prenatally diagnosed CLMs.

Cystic fibrosis (CF) is an autosomal recessive disease asociated to low survival disease into adulthood. The appearance of the cystic fibrosis transmembrane conductance regulator (CFTR) therapy has revolutionized the management and the prognosis of this patients with an improvement in the pancreatic and lung function with a much better quality of life. More women with CF are considering being mothers. Other clinical scenario is the prenatal diagnosis of fetus with CF. Three cases reports have been published suggesting that CFTR therapy during pregnancy in fetuses affected by CF might prevent prenatal meconium ileous (MI), which are the one who have a higher risk of gastrointestinal morbidity and long-term complications.

Dilated colon or rectum on fetal imaging raises concern for underlying anorectal malformation (ARM) or Hirschsprung's disease (HD).

The clinical phenotypes associated with 1q21.1 deletion or duplication syndromes vary considerably among individuals, and the underlying mechanisms remain poorly elucidated. Moreover, data on prenatal ultrasound findings in fetuses carrying these copy number variants are still limited. This study aimed to preliminarily evaluate the association between prenatal phenotypic features and 1q21.1 deletion/duplication syndromes.

The aim of this study was to assess the clinical utility of low-set ears (LSE) as a novel 2D-ultrasound marker for the prenatal detection of chromosomal anomalies.

In fetuses with open spina bifida (fSB), reduced middle cerebral artery resistance index (MCA-RI) has been described. In theory, compression of specific neuronal pathways due to hindbrain herniation (HH) leads to an imbalance of the autonomic nervous system, favoring sympathetic pathways with increased peripheral vasoconstriction resulting in reduced MCA-RI (similar to the brain sparing effect). While untethering the neural placode, the unavoidable surgical manipulation may lead to a temporarily increased tension of the spinal cord and even aggravate HH and compression of neuronal pathways. We assume that along with untethering the spinal cord, the downward pull disappears with a consequent ascensus of the cord, and HH regression (i.e., the hindbrain moves cephalad and out of the foramen magnum) and MCA values normalize after fSB repair. To confirm this hypothesis, the aim of this study was to compare MCA-RI values obtained before, during, and after fetal surgery.

This study aimed to assess whether levels of interleukin 6 (IL-6) in amniotic fluid (AF) can predict perinatal complications following fetal laser surgery in monochorionic twins with twin-to-twin transfusion syndrome (TTTS).

International medical conferences face evolving challenges in optimizing scientific exchange and professional networking while minimizing their environmental footprint. Digital platforms offer solutions that can enhance engagement while reducing ecological impact. This study evaluated implementation outcomes of a custom digital platform at the 41st International Fetal Medicine & Surgery Society (IFMSS) meeting.

Fetoscopy is a minimally invasive technique widely used for the treatment of twin-to-twin transfusion syndrome (TTTS), offering significant perinatal benefits. However, maternal complications of fetoscopy are underreported and incompletely characterized.

The aim of the study was to investigate genetic defects in fetuses diagnosed with isolated hypospadias.

Invasive prenatal diagnostic tests have higher detection rates (DR) than screening tests. Cell-free (cf)DNA screening has higher detection than Combined testing (CT). We estimated cost per cytogenetic abnormality diagnosed for prenatal testing and screening methods (USA data).

Tubulinopathies are a heterogeneous group of rare disorders which are primarily characterized by brain malformations caused by pathogenic variants in the genes that encode tubulin. Although scarce, prenatal diagnosis has been recently reported through expert neurosonography and magnetic resonance imaging, most commonly at 28-34 weeks' gestation, followed by identification of pathogenic variant in TUBA1A, TUBB, TUBB2A, TUBB2B, TUBB3, or TUBG1 using gene sequencing.

With over 450 described skeletal dysplasia syndromes, prenatal ultrasound findings suggestive of skeletal dysplasia often have a wide differential diagnosis, and most accurate diagnoses are often made through molecular genetic testing. Previous studies have analyzed diagnostic yield of certain prenatal genetic testing methodologies, but there are limited data comparing relative detection rates in cases of suspected skeletal dysplasia. Our study aimed to compare diagnostic yields of available prenatal genetic testing options in suspected skeletal dysplasia cases.

A hospital-based Duchenne muscular dystrophy (DMD) newborn screening (NBS) pilot that screened over 18,000 neonates between 2021 and 2024 did not identify a newborn with DMD (incidence 1/5,000 males). We hypothesized that prenatal expanded carrier screening (ECS) that included DMD might be impacting DMD incidence within our population. We therefore explored the extent of ECS and DMD carrier screening in the mothers of our DMD NBS newborns.

Introduction Pulmonary valve stenosis (PS) is a common congenital heart defect with variable severity. Prenatal echocardiography has limited ability to predict neonatal valvuloplasty. We aim to evaluate the prediction accuracy of fetal echocardiography including 2D speckle tracking echocardiography (2D-STE). Methods A prospective cohort study including 24 cases of isolated PS (7 critical, 17 mild-moderate) and 48 gestational-age-matched healthy controls was conducted at BCNatal. Cases were matched with 48 healthy controls adjusted by gestational age at echocardiography. Comprehensive fetal echocardiography and 2D-STE were performed diagnosis. Results Median gestational age at echocardiography was 32.5 weeks (27.4-35.4). Half of the PS fetuses underwent valvuloplasty within the first month of life. PS fetuses showed impaired right ventricular function (reduced tricuspid annular plane systolic excursion, more pulsatile ductus venosus), with preserved left ventricular function. Four independent predictors were identified: ductus venosus pulsatility index ≥79th centile, right ventricular global longitudinal strain ≥-15.9%, reversed flow in the ductus arteriosus, and significant tricuspid regurgitation. When combined into a simple 4-point score, values  2 predicted valvuloplasty with 91.7% sensitivity and 100% specificity (AUC: 0.931). Conclusion These findings suggest that a fetal echocardiographic score may accurately identify fetus with PS needing early postnatal valvuloplasty, allowing improved perinatal management. Further validation studies are needed.

Various treatment options for the prenatal open spina bifida (OSB) repair have evolved over the past decades, including the laparotomy-assisted fetoscopic repair. However, little is known about the fetal vascular regulation during the laparotomy-assisted fetoscopic repair. Therefore, we aimed to describe cardiovascular effects during the intervention in our cohort.

The Affordable Care Act was intended principally to increase healthcare insurance coverage to uninsured Americans. Ostensibly, 40 million people obtained coverage. However, American maternal mortality has significantly worsened. The overall health curve in conservative leaning states is shifted downward in comparison to liberal ones including COVID mortality, maternal mortality, neonatal mortality, life expectancy, heart disease, pulmonary, and diabetic deaths, obesity, smoking, suicides, and alcohol related auto deaths. Here, we focus on insurance coverage issues related to those outcomes and market alterations produced by ACA legislation and regulatory actions that may or may not have had unintended consequences.

Prenatal ultrasound (US) and MRI guide the diagnosis and management of congenital diaphragmatic hernia (CDH). A challenge arises when one imaging modality suggests a moderate case and the other a severe case ("discordant severe CDH"). We aimed to analyze newborn outcomes for this group.