Background and Aim: Polyhydramnios is associated with an increased risk of various adverse pregnancy outcomes, yet complications during labor have not been sufficiently studied. We assessed the labor and perinatal outcomes of idiopathic polyhydramnio...
Background: Idiopathic polyhydramnios is a controversial clinical condition, as data on perinatal outcomes are conflicting and vary depending on the severity of the condition. The aim of the present study was to compare obstetric and neonatal outcome...
Background/Objectives: Pregnancies complicated by idiopathic polyhydramnios are linked to a heightened risk of numerous maternal and perinatal complications. We aim to study the implications of polyhydramnios in term pregnancies complicated with gest...
Polyhydramnios represents a complication found in 0.2–2% of pregnancies, and it is usually diagnosed between 31 and 36 weeks of pregnancy. Although most cases of polyhydramnios are idiopathic, maternal diabetes or foetal malformations constitut...
Background: With the increasing popularity of elective induction after 39 + 0 weeks, the question of whether induction of labor (IOL) is safe in women with isolated polyhydramnios has become more relevant. We aimed to evaluate the pregnancy outcomes...
Background: Antenatal Bartter syndrome is an autosomal recessive disorder causing severe polyuria that leads to severe polyhydramnios and preterm labor. Prenatal diagnosis of antenatal Bartter syndrome is difficult because the genetic diagnosis can o...
Mass spectrometry-based proteomics have become a valued tool for conducting comprehensive analyses in amniotic fluid samples with pathologies. Our research interest is the finding and characterization of proteins related to normal vs. polyhydramnios...
Polyhydramnios is an obstetrical condition defined as a pathological increase in the amniotic fluid and is associated with a high risk of maternal-fetal complications. Common causes of polyhydramnios include fetal anatomical and genetic abnormalities...
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 tw...
Amniotic fluid volume assessment has become standard in the surveillance of fetal well-being, especially in high-risk pregnancies. Amniotic fluid disorders are a frequent and important topic in fetal and perinatal medicine. However, although importan...
Background/Objectives: The antenatal management of Down syndrome (DS) is difficult as it is associated with a high risk for in utero fetal demise (IUFD) with a paucity of literature to guide antenatal surveillance. Avoidance of preterm delivery in th...
Objective: The purpose of this review is to examine the evidence that defines normal and abnormal amniotic fluid volumes (AFVs) and current recommendations on the management of abnormalities of AFV. Methods: The studies establishing normal actual AFV...
Pathogenic variants in RASA1 are typically associated with a clinical condition called “capillary malformation-arteriovenous malformation” (CM-AVM) syndrome, an autosomal dominant genetic disease characterized by a broad phenotypic variab...
A fetal ultrasound (US) is a technique to examine a baby’s maturity and development. US examinations have varying purposes throughout pregnancy. Consequently, in the second and third trimester, US tests are performed for the assessment of Amnio...
A 34-year-old nulliparous gravid female presented with acute bilateral pyelonephritis at 29 + 5 weeks gestation. The patient was relatively well until two weeks ago when a slight increase in amniotic fluid was noted. Further investigation revealed my...
This is a fatal case of multiple complicated congenital anomalies displaying several symptoms consistent with hydrolethalus syndrome. The newborn’s phenotype is characterized by a combination of serious anatomical abnormalities such as open-boo...
Respiratory complications are among the most common problems addressed in neonatology in the first hours after birth, whereas the risk of any cancer in the neonatal period is 28 per million. Sarcomas, malignant mesenchymal neoplasms, account for abou...
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. Method...
Although gastroschisis is often diagnosed by prenatal ultrasound, there is still a gap in the literature about which prenatal ultrasound markers can predict complex gastroschisis. This systematic review and meta-analysis aimed to investigate the ultr...
Background and Clinical Significance: Twin pregnancies are associated with an increased risk of congenital malformations. One of them is rare but lethal—acrania—which belongs to the group of neural tube defects. The pathogenesis of acrani...
Background: This study aims to evaluate the outcomes of fetal sacrococcygeal teratoma (SCT) submitted to prenatal interventions. Methods: We performed a systematic literature review of fetal SCT patients and compared the outcomes between open fetal s...
Background: Noonan syndrome (NS) is a relatively common RASopathy that can be associated with a variety of phenotypic and genotypic variations and potential long-term health consequences. Its most described prenatal ultrasound features in the first t...
Background: VACTERL association is a widely known congenital malformation that includes vertebral, anal, cardiac, tracheoesophageal, renal, and limb anomalies. Patients with VACTERL and hydrocephalus appear to form a distinct group, both genetically...
Background and Objectives: Congenital duodenal obstruction (CDO) is a very rare anomaly with an incidence of 1 in 5000–10,000 live births. Annular pancreas is one of the reasons for CDO and is defined as the pancreatic tissue encircling the duo...
Background/Objectives: To construct and compare multivariable prediction models for the early prediction of large-for-gestational-age (LGA) neonates, using ultrasound biometry and maternal characteristics. Methods: This retrospective cohort study ana...
Cardiofaciocutaneous syndrome (CFCS) belongs to a group of developmental disorders due to defects in the Ras/Mitogen-Activated Protein Kinase (RAS/MAPK) signaling pathway named RASophaties. While postnatal presentation of these disorders is well know...
Simpson-Golabi-Behmel syndrome (SGBS) is a rare x-linked overgrowth syndrome with distinct clinical features, which is difficult to diagnose prenatally. We report the diagnosis of SGBS in dichorionic-diamniotic twin pregnancies in the first trimester...
Glycogen storage disease type IV (GSD IV) (OMIM #232500) is an autosomal recessive disorder caused by deficiency of the glycogen-branching enzyme. Here, we report a patient presenting with prematurity and severe hypotonia resulting from a complicated...
Fetal brain tumors are a rare entity with an overall guarded prognosis. About 10% of congenital brain tumors are diagnosed during fetal life. They differ from the postnatally encountered pediatric brain tumors with respect to location and tumor type....
Lethal congenital contracture syndrome 11 (LCCS11) is caused by homozygous or compound heterozygous variants in the GLDN gene on chromosome 15q21. GLDN encodes gliomedin, a protein required for the formation of the nodes of Ranvier and development of...
Lymphatic malformations are rare congenital anomalies that range from small, self-limited lesions to large, rapidly expanding masses capable of causing serious perinatal complications, including hydrops fetalis, polyhydramnios, airway obstruction, an...
Background: Gestational diabetes mellitus (GDM) is a form of diabetes that develops during pregnancy. The incidence of GDM has been on the rise in tandem with the increasing prevalence of obesity worldwide. We focused on the study of what causes prem...
Gestational diabetes mellitus (GDM) represents a challenging pregnancy complication in which women present a state of glucose intolerance. GDM has been associated with various obstetric complications, such as polyhydramnios, preterm delivery, and inc...
Klippel–Trenaunay syndrome (KTS) is a very rare vascular malformation syndrome also referred to as a capillary–lymphatic–venous malformation with unknown aetiology. The aim of our paper is to highlight interesting images, regarding...
Costello syndrome (CS) is a type of RASopathy caused mainly by de-novo heterozygous pathogenic variants in the HRAS gene located on chromosome 11p15.5. The phenotype of CS is characterized by prenatal overgrowth, postnatal failure to thrive, curly or...
Objectives: To evaluate the association between late CVS (placental biopsy, later than 13 weeks of gestations) and complications between sampling and delivery in 8599 cases in the Department of Obstetrics and Gynecology of a private hospital Podobnik...
Background: Duodenal obstruction is a rare cause of congenital bowel obstruction. Prenatal ultrasound could be suggestive of duodenal atresia if polyhydramnios and the double bubble sign are visible. Prenatal diagnosis should prompt respective prenat...
Noonan syndro me is a rare autosomal dominant congenital abnormality associated with a gene defect located on the short arm of chromosome 12. It is characterized by dysmorphic facies, webbed neck, short stature, lymphatic obstruction, cardiac anomali...
The aim of fetal cardiac interventions (FCI), as other prenatal therapeutic procedures, is to bring benefit to the fetus. However, the safety of the mother is of utmost importance. The objective of our study was to evaluate the impact of FCI on mater...
Follow-up of children born with esophageal atresia (EA) is mandatory due to high incidence of comorbidities. We evaluated endoscopic findings at follow-up of EA patients performed at our Centre according to ESPGHAN-NASPGHAN 2016 guidelines. A retrosp...
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 pr...
Microvillus inclusion disease (MVID) is a rare, inherited, congenital, diarrheal disorder that is invariably fatal if left untreated. Within days after birth, MVID presents as a life-threatening emergency characterized by severe dehydration, metaboli...
Background: Perinatal Hepatitis C Virus (HCV) transmission occurs in 4–7% of the cases with detectable viremia at delivery. HCV testing in pregnancy is recommended. The fetal infection was previously described as asymptomatic although there are...
Diagnosis of a chromosome 22q11.2 microdeletion and its associated deletion syndrome (22q11.2DS) is optimally made early. We reviewed the available literature to provide contemporary guidance and recommendations related to the prenatal period. Indica...
The aim of this prospective cohort study was to determine whether women with recurrent pregnancy loss (RPL) have an increased risk of pregnancy complications compared to normal pregnant women. A total of 1092 singleton pregnancies were followed, 431...
Background and Clinical Significance: Binder syndrome or maxillonasal dysplasia is a rare developmental disorder affecting the anterior maxilla and nasal complex, characterized by midfacial hypoplasia, a flattened nasal bridge, and increased nasofron...
Background: Beckwith–Wiedemann syndrome (BWS) is a phenotypically and genetically heterogeneous disorder associated with epigenetic/genetic aberrations on chromosome 11p15.4p15.5. There is no consensus criterion for prenatal diagnosis of BWS. M...
Objective: Prader-Willi syndrome (PWS) is a rare genetic syndrome with a wide spectrum of clinical features in early life. Late diagnoses are still present. We characterized the perinatal and neonatal features of PWS, compared them with those of heal...
Voltage-gated sodium channels (VGSCs) are responsible for the initiation and propagation of action potentials in the brain and muscle. Pathogenic variants in genes encoding VGSCs have been associated with severe disorders including epileptic encephal...
Background/Objectives: Complex cases in pediatric surgery involving multiple congenital anomalies pose significant diagnostic and therapeutic challenges. These conditions require coordinated interdisciplinary care tailored to the individual patient....
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