OBJECTIVE Evaluate the costs of offering non-invasive prenatal diagnosis (NIPD) for single gene disorders compared to traditional invasive testing to inform NIPD implementation into clinical practice. METHOD Total costs of diagnosis using NIPD or invasive testing pathways were compared for a representative set of single gene disorders. RESULTS For autosomal dominant conditions, where NIPD m...

About 40 years ago, invasive prenatal diagnosis techniques were introduced in obstetrics. Initially, amniocentesis was performed followed by placentacentesis, fetoscopy, fetal blood sampling (FBS), and chorionic villus sampling (CVS). These procedures, while invading the uterine environment, have made it possible to proceed with the retrieval of biological tissue of fetal origin for analysis an...

neonatal ovarian cysts (noc) are usually self-limiting structures, however, large or complex cysts may lead to severe complications. unfortunately, no standard guidelines have been introduced for the management, treatment and follow-up of these cysts. in this report, we aimed to introduce a very large noc without any pre- and post-natal complications. a 30 year-old mother, gravida 2, para 2, wi...

background evaluation of the cerebellum and vermis is one of the integral parts of the fetal cranial anomaly screening. objectives the aim of this study was to create a nomogram for fetal vermis measurements between 17 and 30 gestational weeks. patients and methods this prospective study was conducted on 171 volunteer pregnant women between march 2013 and december 2014. measurements of the feta...

in previous years, identification of fetal cells in maternal blood circulation has caused a new revolution in non-invasive method of prenatal diagnosis. low number of fetal cells in maternal blood and long-term survival after pregnancy limited the use of fetal cells in diagnostic and clinical applications. with the discovery of cell-free fetal dna (cffdna) in plasma of pregnant women, access to...

OBJECTIVE Accurate prenatal diagnosis of genetic conditions can be challenging and usually requires invasive testing. Here, we demonstrate the potential of next-generation sequencing (NGS) for the analysis of cell-free DNA in maternal blood to transform prenatal diagnosis of monogenic disorders. METHODS Analysis of cell-free DNA using a PCR and restriction enzyme digest (PCR-RED) was compared...

Down's syndrome (DS) is the most common genetic cause of developmental delay with an incidence of 1 in 800 live births, and is the predominant reason why women choose to undergo invasive prenatal diagnosis. However, as invasive tests are associated with around a 1% risk of miscarriage new non-invasive tests have been long sought after. Recently, the most promising approach for non-invasive pren...

We evaluated the system accuracy of noninvasive prenatal diagnosis for abnormal chromosome genetic diseases using cell-free fetal DNA in maternal plasma. Previous studies were searched in the MEDLINE database using the following keywords: "prenatal" and "aneuploidy" and "noninvasive or non-invasive" and "maternal". Identified studies were filtered using a QUADAS instrument. Four studies were id...