1. Plausible explanations for the detection of false positive results in NIPT of fetal aneuploidies are which of the following? a) Low fetal DNA fractions b) Confined placental mosaicism c)…
1. The gold standard test for antenatal surveillance of the pregnancy at-risk for an adverse pregnancy outcome with the lowest false negative rate is: a) Biophysical Profile b) CTG only…
Thalassemia is the commonest monogenic disease and manifests as severe anemia. It is increasingly encountered outside the Mediterranean region, Africa, Middle East, and Southeast Asia because of immigration. Pregnancy, previously…
Non-invasive prenatal testing (NIPT) using maternal plasma cell free DNA has already reshaped the existing prenatal care system for pregnancies screened for common chromosomal aneuploidies. On the other hand, much…
The aim of pre-implantation genetic diagnosis (PGD) is to characterize the genetic status of the cells (usually single cells) that have been biopsied from oocytes/zygotes or embryos created in vitro during…
A noninvasive approach by serial ultrasound examination at 12–15, 18, and 30 weeks of gestation can be used to exclude homozygous α 0 -thalassemia-induced fetal anemia. At 12–15 weeks of…
Haemoglobinopathies are among the most common inherited monogenic disorders worldwide. Thalassaemia screening for carrier status is recommended for adults of reproductive age if suspected of being at risk. Conventional laboratory…
Thalassemia is the most common monogenic inherited disease worldwide, affecting individuals originating from many countries to various extents. As the disease requires long-term care, prevention of the homozygous state presents…
Thalassaemia is the most common monogenic disorder worldwide. It is common in areas with prevalent malaria as thalassaemic red cells provide immunity against the parasite. The incidence of thalassaemia carriers…
Thalassemia is a significant health problem worldwide. Prenatal diagnosis is the only effective way to prevent the birth of a fetus with severe thalassemias, which include hemoglobin Bart’s hydrops fetalis…
