The purpose of prenatal diagnosis tests is insisting of diagnosis of neonatal disorders, preparing a range of informed choices and making couples at risk to be ready for having children with genetic disorders as well. The aim of this article is to investigate all of the tests in order to determine the best one which has the lowest risk and the highest sensitivity. Screening tests (maternal bloo...

This article summarizes several Canadian court decisions from 2015 onward stemming wrongful birth and life litigation. Plaintiff success often turns on whether causation is established, a balance of probabilities, between physician’s breach standard care the harm to parents and/or child later born. Physicians’ failure offer or order screening diagnostic tests has been source liability, as too c...

BACKGROUND Non-invasive prenatal testing (NIPT), also known as cell-free DNA testing and non-invasive prenatal screening (NIPS), is an important addition to the range of screening tests for fetal chromosomal abnormalities. For trisomy 21 in particular, NIPT is superior to other screening modalities. However, NIPT has limitations and complexities that requesting clinicians and their patients sho...

OBJECTIVE To provide data on how screen-positive and detection rates of first trimester prenatal screening for fetal Down syndrome vary with changes in the risk cut-off and maternal age to inform contingency criteria for publicly funded noninvasive prenatal testing. MATERIALS AND METHODS First trimester screening and diagnostic data were collected for all women attending for first trimester f...

the prevalence of primary infection with t. gondii in pregnant women and risk of congenital infection in their neonates in various parts of tehran are unknown. the prevalence rate of antibodies to t. gondii ranges from 24% in tehran to 62.7% in babol. this study describes the epidemiology of toxoplasma infection in pregnant women in tehran and risk factors of congenital toxoplasmosis in newborn...

context prenatal testing aims to identify fetal chromosomal and genetic disorders prior to delivery. current invasive procedures such as amniocentesis and chorionic villus sampling (cvs) pose a risk to mother and fetus and such diagnostic procedures are available only to high-risk pregnancies, which limits aneuploidy detection rate. the identification of cell-free fetal dna (cffdna) in maternal ...

Down syndrome is the leading cause of prenatal chromosome abnormalities, accounting for 53% of all reported chromosome conditions. Testing strategies, guidelines, and screening options have expanded from their conception in the 1970s, and now include such options as anatomical ultrasound, maternal serum screening, and noninvasive prenatal testing. This review summarizes all currently available ...

Chromosomal mosaicism is one of the primary interpretative issues in prenatal diagnosis. In this review, the mechanisms underlying feto-placental chromosomal mosaicism are presented. Based on the substantial retrospective diagnostic experience with chorionic villi samples (CVS) of a prenatal diagnosis laboratory the following items are discussed: (i) The frequency of the different types of mosa...