Infertility is considered a major public health issue, and approximately 1 out of 6 people
worldwide suffer from infertility during their reproductive lifespans. Thanks to technological …

Thalassemias are a group of inherited blood disorders that affects 5–7% of the world
population. Comprehensive screening strategies are essential for the management and …

Background: In pregnant women at risk of autosomal recessive (AR) disorders, prenatal
diagnosis of AR disorders primarily involves invasive procedures, such as chorionic villus …

Background Thalassemias are inherited blood disorders and by far one of the most common
monogenic diseases globally. Beta-thalassemia has a particularly high prevalence in …

Objective To evaluate whether targeted sequencing and relative mutation dosage can be
used to diagnose correctly inheritance of maternal β‐thalassaemia mutations in cell‐free …

Thalassemia is one of the most common hereditary disorders of the developing world, and it
is associated with severe anemia and transfusion dependence. The global health burden of …

Introduction: Prenatal diagnosis of thalassemia disease was usually based on invasive
technique. Noninvasive diagnosis using cell-free fetal DNA (cff-DNA) was described with …

Prenatal diagnosis of hereditary diseases has substantially altered the way medical
geneticists are helping families affected by genetic disorders. However, the risk of …

β-Thalassemia is a prevalent type of severe inherited chronic anemia, primarily identified in
developing countries. The identification of single nucleotide polymorphisms (SNPs) plays a …

ABSTRACT Introduction: Cystic Fibrosis is among the first diseases to have general
population genetic screening tests and one of the most common indications of prenatal and …