A critical step in planning a successful study is choosing the appropriate design to feasibly answer the clinical question at hand. We provide an overview of common study designs, discuss their advantages and disadvantages, and provide practical examples from the prenatal diagnosis and ultrasound literature. In addition, we highlight specific design considerations that need to be built into the...

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 ichthyosis was n...

Congenital granular cell tumor (GCT) is a relatively rare intraoral benign tumor, approximately 200 cases of which have been reported in the neonatal period worldwide. The newborn infant may have feeding problems and respiratory difficulties due to airway obstruction. This lesion may be diagnosed by prenatal ultrasonography and simple resection is mostly required. We report a case of an adult t...

Prenatal diagnosis with application of the Amniotic fluid (Amniocentesis: AC) and chorionic villi sampling {CVS) is a general aspect of application in Human Genetics which facilitate the diagnosis of different Genetic defects, enclosing chromosomal abnormalities and Genosomopathies. Diagnosis of Genetic defects for AC and CVS is between 16-20th and 8-12th weeks of gestation respectively. Allica...

BACKGROUND The discovery of fetal DNA in maternal plasma has opened up an approach for noninvasive prenatal diagnosis. Despite the rapid expansion in clinical applications, the molecular characteristics of plasma DNA in pregnant women remain unclear. METHODS We investigated the size distribution of plasma DNA in 34 nonpregnant women and 31 pregnant women, using a panel of quantitative PCR ass...

Three-dimensional and four-dimensional ultrasound (3D/4D US) technology can be easily applied to routine prenatal diagnosis and can provide images of the fetal face that cannot be achieved with two-dimensional ultrasound (2D US) [1–7]. The most recent 3D/4D US technology facilitates the 3D/4D US examinations even for the less trained sonographer and gives the examiner the opportunity to identif...

The conjoined twins (CTs) are one of the most challenging conditions in pediatric surgery especially in developing countries.[1] In developed countries, antenatal diagnosis of CTs is possible at 12th week of gestation, however, in developing countries like Togo, CTs are often discovered at birth.[2] Some work on CTs has been done in Central and West Africa.[35] The problems of antenatal diagnos...

These guidelines are designed to assist the pediatrician in caring for the child in whom a diagnosis of Down syndrome has been confirmed by chromosome analysis. Although a pediatrician's initial contact with the child is usually during infancy, occasionally the pregnant woman who has been given a prenatal diagnosis of Down syndrome will be referred for review of the condition and the genetic co...

Recent reports have indicated that digital PCR may be useful for the noninvasive detection of fetal aneuploidies by the analysis of cell-free DNA and RNA in maternal plasma or serum. In this review we provide an insight into the underlying technology and its previous application in the determination of the allelic frequencies of oncogenic alterations in cancer specimens. We also provide an indi...