Reference charts for fetal cerebellar vermis height: A prospective cross-sectional study of 10605 fetuses

A prospective cross-sectional study between September 2009 and December 2014 was carried out at ALTAMEDICA Fetal–Maternal Medical Centre, Rome, Italy. Of 25203 fetal biometric measurements, 12167 (48%) measurements of the cerebellar vermis were available. After excluding 1562 (12.8%) measurements, a total of 10605 (87.2%) fetuses were considered and analyzed once only. Parametric and nonparametric quantile regression models were used for the statistical analysis. In order to evaluate the robustness of the proposed reference charts regarding various distributional assumptions on the ultrasound measurements at hand, we compared the gestational age-specific reference curves we produced through the statistical methods used. Normal mean height based on parametric and nonparametric methods were defined for each week of gestation and the regression equation expressing the height of the cerebellar vermis as a function of gestational age was calculated. Finally the correlation between dimension/gestation was measured

Pallister–Killian syndrome: Cytogenetics and molecular investigations of mosaic tetrasomy 12p in prenatal chorionic villus and in amniocytes. Strategy of prenatal diagnosis

Abstract Objective Pallister–Killian syndrome (PKS) is a rare, sporadic genetic disorder caused by mosaic tetrasomy of the short arm of chromosome 12 (12p). Clinically, PKS is characterized by several systemic abnormalities, such as intellectual impairment, hearing loss, epilepsy, hypotonia, craniofacial dysmorphism, pigmentary skin anomalies, epilepsy, and a variety of congenital malformations. Prenatally, PKS can be suspected in the presence of ultrasound anomalies: diaphragmatic hernia, rhizomelic micromelia, hydrops fetalis, fetal overweight, ventriculomegaly in the central nervous system, congenital heart defects, or absent visualization of the stomach. In all these cases, a detailed genetic study is required. PKS is diagnosed by prenatal genetic analysis through chorionic villus sampling, genetic amniocentesis, and cordocentesis. Case Report We report two cases of PKS with prenatal diagnosis of isochromosome 12p made by cytogenetic studies. The first case is of a 36-year-old pregnant woman who underwent genetic chorionic villus sampling at 13 th weeks of gestation after 1 st trimester prenatal ultrasound revealed clinical features of PKS: flat nasal bridge and fetal hydrops. The second case is of a 32-year-old pregnant woman with genetic amniocentesis at 17 th weeks of gestation that showed mos46,XX[21]/47,XX,+i(12p) associated to PKS. Conclusion New molecular cytogenetic techniques array comparative genomic hybridization and fluorescence in-situ hybridization in association with conventional karyotype are pivotal innovative tools to search for chromosomic anomalies and for a complete prenatal diagnosis, especially in cases such as PKS where array comparative genomic hybridization analysis alone could not show mosaicism of i(12p)

Proteomic analysis for the study of amniotic fluid protein composition

Amniotic fluid (AF), routinely used for prenatal diagnosis, contains large amounts of proteins produced by the amnion epithelial cells, fetal tissues, fetal excretions and placental tissues. Although many amniotic fluid proteins have been identified and are currently used to detect potential fetal anomalies, little is known about the functions of these proteins and how they interact with one another. Identification of changes in the protein content of amniotic fluid, therefore, may be used to detect a particular type of pathology, or to ascertain a specific genetic disorder. In the present work we used a proteomic approach, combining 2DE and MS, in order to study the protein composition of AFS

Approccio diagnostico sequenziale alle patologie a carico degli arti fetali

L’individuazione delle anomalie dell’arto fetale, utilizzando l’ultrasonografia, è di massima importanza per fornire un adeguato counseling genetico. Le anomalie dell’arto possono essere isolate o associate con altre anomalie e possono essere il risultato di malformazioni, deformazioni o distruzioni così come parte di una displasia, come la displasia scheletrica. Quando l’anomalia dell’arto è una malformazione ed è associata ad altre anomalie, essa è di solito il risultato di una cromosomopatia e di un disordine di un singolo gene. La diagnosi prenatale e il management delle anomalie delgli arti sono complesse e richiedono un approccio multidisciplinare che veda coinvolti radiologi, perinatologi, genetisti medici, neonatologi e chirurghi ortopedici per fornire ai genitori informazioni riguardanti la natura delle anomalie, la diagnosi differenziale, la prognosi e le opzioni correlate alla gravidanza

Shoulder dystocia: an Evidence-Based approach

Shoulder Dystocia (SD) is the nightmare of obstetricians. Despite its low incidence, SD still represents a huge risk of morbidity for both the mother and fetus. Even though several studies showed the existence of both major and minor risk factors that may complicate a delivery, SD remains an unpreventable and unpredictable obstetric emergency. When it occurs, SD is difficult to manage due to the fact that there are not univocal algorithms for its management