As prenatal exome sequencing becomes integrated into clinical care, it is critical that
providers caring for women with fetal anomalies recognize not only the benefits, but also the …

Next-generation sequencing and other genomic technologies are transforming prenatal and
reproductive screening and testing for fetal genetic disorders at an unprecedented pace …

Objective Prenatally detected central nervous system (CNS) anomalies present a diagnostic
challenge. In this study, we compared the diagnostic yield of exome sequencing (ES) and …

Purpose Clinical genome or exome sequencing (GS/ES) provides a diagnosis for many
individuals with suspected genetic disorders, but also yields negative or uncertain results for …

Objective To explore the indications for and diagnostic outcomes of fetal exome sequencing
in a tertiary referral center. Methods Between 2012 and 2017, 77 unrelated fetal samples …

Background Infertility affects about 7% of the general male population. The underlying cause
of male infertility is undefined in about 50% of cases (idiopathic infertility). The number of …

Background Due to its reduced cost and incomparable advantages, WGS is likely to lead to
changes in clinical diagnosis of rare and undiagnosed diseases. However, the sensitivity …

Genetic testing for prenatal diagnosis in the pre-genomic era primarily focused on detecting
common fetal aneuploidies, using methods that combine maternal factors and imaging …

Objective To present the development of the first custom gene panel for the diagnosis of
male and female infertility in Latin America. Methods We developed a next-generation …

Next-generation sequencing (NGS) represents several powerful platforms that have
revolutionized RNA and DNA analysis. The parallel sequencing of millions of DNA …