Invasive prenatal diagnosis techniques include chorionic villus sampling (CVS), amniocentesis, cordocentesis or percutaneous umbilical blood sampling (PUBS), fetal tissue sampling, as well as embryoscopy and fetoscopy (Table 2). Some diagnostic results may be obtained by more than one technique: for example, fetal karyotype can be obtained from cells from amniocentesis, chorionic villus samplin...

BACKGROUND Approximately 45-50 % of the recurrent pregnancy loss (RPL) remain(s) unexplained that challenges its clinical management. Formation and development of placenta as well as angiogenesis are critical for successful pregnancy. Vascular endothelial growth factor (VEGF) and connexin 43 (Cx43) play important roles in angiogenesis and placenta development and aberration of these have been l...

The fragile X syndrome, an X linked mental retardation syndrome, is caused by an expanded CGG repeat in the first exon of the FMR1 gene. In patients with an expanded repeat the FMR1 promoter is methylated and, consequently, the gene is silenced and no FMR1 protein (FMRP) is produced, thus leading to the clinical phenotype. Here we describe a prenatal diagnosis performed in a female from a fragi...

Long term propagation of human fetal mesenchymal stromal cells (MSC) in vitro has proven elusive due to limited availability of fetal tissue sources and lack of appropriate methodologies. Here, we have demonstrated the presence of fetal and maternal cells within the tips of terminal chorionic villi (TCV) of normal human term placenta, and we have exploited inherent differences in the adhesive a...

BACKGROUND Preterm birth, defined as birth occurring before 37 weeks gestation, is one of the most significant contributors to neonatal mortality and morbidity, with long-term adverse consequences for health, and cognitive outcome. OBJECTIVE The aim of the present study was to identify risk factors of preterm birth (≤36+6 weeks gestation) among singleton births and to quantify the contributio...

OBJECTIVES The aim was to investigate aneuploidy detection using an approach based on nuchal translucency (NT) and non-invasive prenatal testing (NIPT). METHODS This was a cohort study including 5,306 high-risk pregnancies with NT measurements and chorionic villus samples (CVS) tested for full karyotype. RESULTS The fetal karyotype was normal in 4,172 (78.6%) cases and abnormal in 1,134 (21...

BACKGROUND The placenta is a very attractive source of mesenchymal stem cells (MSCs) for regenerative medicine due to readily availability, non-invasive acquisition, and avoidance of ethical issues. Isolating MSCs from parts of placenta tissue has obtained growing interest because they are assumed to exhibit different proliferation and differentiation potentials due to complex structures and fu...

OBJECTIVE Cell-free DNA (cfDNA) offers highly accurate noninvasive screening for Down syndrome. Incorporating it into routine care is complicated. We present our experience implementing a novel program for cfDNA screening, emphasizing patient education, genetic counseling, and resource management. STUDY DESIGN Beginning in January 2013, we initiated a new patient care model in which high-risk...

Couples with multiple miscarriages are at risk for carrying a balanced translocation since they may produce unbalanced gametes. Chromosomal imbalances may lead to spontaneous abortions, or an offspring with multiple congenital anomalies. This report emphasizes the importance of the cytogenetic investigations in couples with recurrent spontaneous abortions. A couple was referred for cytogenetic ...

BACKGROUND Cyclic vomiting syndrome (CVS), a chronic disorder characterized by recurrent episodes of vomiting, is frequently unrecognized and is associated with high utilization of emergency department (ED) services. METHODS A web-based survey was posted on the Cyclic Vomiting Syndrome Association (CVSA) website to assess utilization of ED services in patients with CVS. RESULTS Of 251 respo...