Harlequin ichthyosis is a rare and the most severe form of congenital ichthyosis. Although prenatal diagnosis is difficult for this disorder, recently, this obstacle has markedly improved with the use of DNA-based prenatal diagnosis. Here in, we presented a neonate with harlequin ichthyosis born by assisted reproductive technology (ART). In this case, the diagnosis of harlequin ichth...

methods genomic dna of cultured s. agalactiae was prepared and loop-mediated isothermal amplification (lamp) primers were designed based on the camp gene in bacteria. the optimum primer set was selected based on the reaction speed and specificity. the reaction result was monitored visually. the sensitivity and specificity of the lamp method were evaluated and compared with polymerase chain reac...

background: discovery of short cell free fetal dna (cffdna) fragments in maternal plasma has created major changes in the field of prenatal diagnosis. the use of cffdna to set up noninvasive prenatal test is limited due to the low concentration of fetal dna in maternal plasma therefore, employing a high efficiency extraction method leads to more accurate results. the aim of this study was to ev...

down syndrome (ds) is a birth defect with huge medical and social costs, caused by trisomy of whole or part of chromosome 21. it is the most prevalent genetic disease worldwide and the common genetic cause of intellectual disabilities appearing in about 1 in 400-1500 newborns. although the syndrome had been described thousands of years before, it was named after john langdon down who described ...

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...

In this paper, all possible clinical applications of circulating mRNA and miRNA for non-invasive prenatal diagnosis appearing in the medical literature so far are described. Data from the literature have also been reported and commented on along with some possible future applications.

Background The iatrogenic risk of HIV vertical transmission, calculated in initial epidemiologic studies of this infection seemed to contra-indicate the performance of invasive prenatal diagnosis (PND) techniques. The implementation of highly active antiretroviral therapy (HAART) represented a turning point in PND management, owing to a rapid and effective reduction of the maternal viral load.

After prenatal diagnosis of bilateral fetal hydrothorax, ascites, and polyhydramnios, bilateral thoracoamniotic shunts were placed at 29 weeks gestation using an ultrasound-guided, minimally invasive technique. Anesthetic care was managed using intravenous sedation and local anesthesia infiltration. The anesthetic considerations for such procedures are discussed.

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...