Outcomes of Intrauterine Interventions in Twin Reversed Arterial Perfusion (TRAP) Sequence: A Systematic Review of the Literature Over the Past 35 Years.

Twin reversed arterial perfusion (TRAP) sequence is an uncommon disease affecting monochorionic twin pregnancies. The diagnosis can be made by ultrasound allowing to plan optimal antenatal management. An electronic search was conducted from inception to July 2024 to systematically evaluate and compare the outcomes of different intrauterine interventions in this condition.

Intrauterine Testicular Torsion: Two Prenatally Diagnosed Cases and Review of the Literature.

The third-trimester ultrasound diagnosis in two fetuses with isolated testicular torsion is described. Pregnancy courses were uneventful and routine second-trimester scans had shown no structural anomalies. Antenatal ultrasound performed at 32 + 3 and 33 + 0 weeks' gestation showed signs consistent with the diagnosis of isolated left spermatic cord torsion in both cases (absent flow across the testicular artery, hyperechogenic small rounded mass in the hemiscrotum representing the twisted testes, and hydrocele).

Placental and umbilical cord anomalies detected by ultrasound as clinical risk factors of adverse perinatal outcome: Case series review of selected conditions. Part 1: Placental abnormalities.

Background: The aim of this extended review of multicenter case series is to describe the prenatal ultrasound features and pathogenetic mechanisms underlying placental and umbilical cord anomalies and their relationship with adverse perinatal outcome. From an educational point of view, the case series has been divided in three parts; Part 1 is dedicated to placental abnormalities.

Methods: Multicenter case series of women undergoing routine and extended prenatal ultrasound and perinatal obstetric care.

Umbilical Cord Diseases Affecting Obstetric and Perinatal Outcomes.

(1) The aim of this article is to describe the physiopathology underlying umbilical cord diseases and their relationship with obstetric and perinatal outcomes. (2) Methods: Multicenter case series of umbilical cord diseases with illustrations from contributing institutions are presented. (3) Results: Clinical presentations of prenatal ultrasound findings, clinical prenatal features and postnatal outcomes are described.

Clinical Presentations and Diagnostic Imaging of VACTERL Association.

VACTERL association consists of Vertebral, Anorectal, Cardiac, Tracheo-Esophageal, Renal, and Limb defects. The diagnosis depends on the presence of at least three of these structural abnormalities. The clinical presentation and diagnostic prenatal imaging of VACTERL association are comprehensively reviewed.

Placental and Umbilical Cord Anomalies Diagnosed by Two- and Three-Dimensional Ultrasound.

The aim of this review is to present a wide spectrum of placental and umbilical cord pathologies affecting the pregnancy. Placental and umbilical cord anomalies are highly associated with high-risk pregnancies and may jeopardize fetal well-being in utero as well as causing a predisposition towards poor perinatal outcome with increased fetal and neonatal mortality and morbidity. The permanent, computerized perinatology databases of different international centers have been searched and investigated to fulfil the aim of this manuscript.

Skeletal dysplasia with bowing long bones: Proposed flowchart for prenatal diagnosis with case demonstration.

Objective: Skeletal dysplasia with bowing long bones is a rare group of multiple characterized congenital anomalies.

Materials And Methods: We introduce a simple, practical diagnostic flowchart that may be helpful in identifying the appropriate pathway of obstetrical management.

Results: Herein, we describe four fetal cases of bent bony dysplasia that focus on ultrasound findings, phenotype, molecular tests, distinctive X-ray features, and chondral growth plate histology.

Three-dimensional ultrasonography by means of HDlive rendering in the first trimester of pregnancy: A pictorial review.

Our objective was to describe early embryo/fetus anatomy and abnormalities provided by three and four-dimensional (3D/4D) ultrasound using HDlive rendering technology in the first trimester of pregnancy. Normal and pathologic embryonic and fetal volume data set with postprocessing using HDlive rendering mode. Virtual fetoscopic imaging of the normal and pathologic fetus even at early stage of development with increasing maternal-fetal bonding process.

First trimester diagnosis of cervico-thoracic diastematomyelia and diplomyelia using three-dimensional ultrasound.

Background: Diastematomyelia and diplomyelia are rare form of spinal cord malformations (SCM) characterized by sagittal cleft in the spinal cord, conus medullaris, and/or filum terminale with splaying of the posterior vertebral elements and duplication of the spinal cord into two twin cords. Prenatal diagnosis of these diseases by two-dimensional ultrasound has been reported usually late in pregnancy and only recently in the first trimester.

Objective: We describe the first case of cervico-thoracic diastematomyelia and diplomyelia diagnosed early in pregnancy using three-dimensional ultrasound.

Complete trisomy 9 with unusual phenotypic associations: Dandy-Walker malformation, cleft lip and cleft palate, cardiovascular abnormalities.

Objective: Trisomy 9 is a rare chromosomal abnormality usually associated with first-trimester miscarriage; few fetuses survive until the second trimester. We report two new cases of complete trisomy 9 that both present unusual phenotypic associations, and we analyze the genetic pathway involved in this chromosomal abnormality.

Case Report: The first fetus investigated showed Dandy-Walker malformation, cleft lip, and cleft palate) at the second trimester scan.

Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?

Oral-facial-digital type VI syndrome (OFDVI) is a rare phenotype of Joubert syndrome (JS). Recently, C5orf42 was suggested as the major OFDVI gene, being mutated in 9 of 11 families (82 %). We sequenced C5orf42 in 313 JS probands and identified mutations in 28 (8.

Bifid uvula and familial Stickler syndrome diagnosed prenatally before the sonographic "equals sign" landmark.

Purpose: The prenatal ultrasound visualization of the soft palate and especially the uvula may be technically difficult due to its anatomy and presence of surrounding structures. A cleft involving the soft palate and the uvula is one of the clinical features of Stickler syndrome, a rare connective tissue disorder.

Materials And Methods: Third trimester scan performed at 30 weeks' gestation in a pregnant woman with a familial history of Stickler syndrome using conventional 2D ultrasound.

Bifid choroid plexus: always a normal fetal brain structure variant?

Choroid plexus, a fetal organ developing approximately from the sixth week of gestation, plays a fundamental role in developing fetal brain organization. As relatively little is known about the relationship between anomalies of choroid plexuses structure and their role in brain function, we examined cases of bifid choroid plexus (BCP) and discussed their potential association with lateral ventriculomegaly, other abnormal ultrasound findings, and their potential role as markers of fetal chromosomal abnormalities. In the present study, we described 23 cases of fetal BCP found in 2145 routine second trimester ultrasounds.

Arthrogryposis multiplex congenita-like syndrome associated with median cleft lip and palates: first prenatally detected case.

An early second-trimester prenatal ultrasound diagnosis of an arthrogryposis multiplex congenita-like syndrome associated with median clefts is reported. A molecular biological work-up was performed to search for a potentially overlapping syndrome and dysostosis. Autopsy and postmortem radiogram were performed to confirm the ultrasound diagnosis.

Craniosynostosis with wormian bone, bowing of the long bones, unilateral short femur, and focal fibula deficiency: a prenatal diagnostic dilemma.

The prenatal detection in the second trimester of pregnancy of a fetus with craniosynostosis, wide metopic suture, and wormian bone associated with bowing of the long bones, unilateral short femur, and focal fibula deficiency is reported. These ultrasonographic findings when not supported by a diagnostic molecular biology result represent a prenatal dilemma in term of both parent's counseling and management of potential overlapping skeletal diseases.

OmniView algorithm: a novel 3-dimensional sonographic technique in the study of the fetal hard and soft palates.

The purpose of this pictorial essay is to report on the application of OmniView (GE Healthcare, Zipf, Austria), new 3-dimensional sonographic software, and its application in the prenatal sonographic study of the fetal hard and soft palates. We will show that this novel technique is easy and feasible, requires a limited learning curve, and provides correct volume interrogation of the region of interest. The OmniView algorithm may be useful in training programs, and volume data sets can be interpreted by experts in remote sites.

Recruitment of host's progenitor cells to sites of human amniotic fluid stem cells implantation.

The amniotic fluid is a new source of multipotent stem cells with a therapeutic potential for human diseases. Cultured at low cell density, human amniotic fluid stem cells (hAFSCs) were still able to generate colony-forming unit-fibroblast (CFU-F) after 60 doublings, thus confirming their staminal nature. Moreover, after extensive in vitro cell expansion hAFSCs maintained a stable karyotype.

Prenatal ultrasound and histological diagnosis of fetal nasal glioma (heterotopic central nervous system tissue): report of a new case and review of the literature.

Introduction: Nasal glioma is a rare, benign congenital midline facial lesion.

Materials And Methods: Prenatal ultrasound diagnosis performed at 2nd trimester of pregnancy revealed a right-sided mass at the level of the fetal face extending from the right internal canthus to the nasal bridge.

Conclusion: Differential diagnosis of facial mass in the fetus represents a critical issue because is essential in guiding the prenatal counselling of the couple and in guiding the prenatal and/or postnatal management.

Phenotype of five cases of prenatally diagnosed campomelic dysplasia harboring novel mutations of the SOX9 gene.

Objectives: Campomelic dysplasia is a rare congenital skeletal disorder characterized by bowing of the long bones and a variety of other skeletal and extraskeletal defects, many of which can now be identified prenatally using advanced ultrasound equipment. The disorder is caused by mutations in SRY-box 9 (SOX9), a gene that is abundantly expressed in chondrocytes as well as in other tissues. However, the correlation between genotype and phenotype is still unclear.

Craniosynostosis: prenatal diagnosis by means of ultrasound and SSSE-MRI. Family series with report of neurodevelopmental outcome and review of the literature.

Introduction: Craniosynostosis is a condition characterized by a premature closure of one or more skull sutures and refers to a wide spectrum of cranial malformation with an estimated birth of 1:2,000-1:4,000 live births. Four receptors (FGFR 1, FGFR 2, FGFR 3, FGFR 4) involving mutation in the fibroblast growth factor have been identified.

Materials And Methods: Two cases occurred in the same family and diagnosed prenatally by means of ultrasound, and antenatal and postnatal MR imaging are reported.

Regression of fetal cerebral abnormalities by primary cytomegalovirus infection following hyperimmunoglobulin therapy.

Objective: To assess the effects of maternal and intra-amniotic hyperimmunoglobulin (HIG) infusions among cytomegalovirus (CMV) infected fetuses with ultrasound abnormalities following a primary CMV infection.

Patients And Methods: The subjects were fetuses with CMV-associated cerebral and other ultrasound abnormalities. Three mothers were treated with HIG infusions during pregnancy and two were untreated.

Multipotent mesenchymal stromal cells from amniotic fluid: solid perspectives for clinical application.

Background: Mesenchymal stromal cells are multipotent cells considered to be of great promise for use in regenerative medicine. However, the cell dose may be a critical factor in many clinical conditions and the yield resulting from the ex vivo expansion of mesenchymal stromal cells derived from bone marrow may be insufficient. Thus, alternative sources of mesenchymal stromal cells need to be explored.