Obgyn Key

Key Points • The embryologic processes involved in development of the abdominal wall and viscera are complex and most anomalies can be defined through their developmental origin. • The abdominal…

Key Points • Prenatal ultrasound of the fetal brain in the second and third trimester is described, from basics to advanced neurosonography. • Classification of central nervous system anomalies is…

Key Points • Current evidence suggests that prenatal diagnosis of congenital heart disease (CHD) reduces morbidity and mortality, gives expectant parents time to prepare and allows planning for delivery in…

Key Points • Homozygous α 0 -thalassemia and β-thalassemia major are global autosomal disorders. • Different α- and β-thalassemia genotypes may be associated with variable phenotypes. • Universal screening is…

Key Points • This chapter describes the novel concept of expanded carrier screening (ECS), whereby individuals are simultaneously screened for up to 200 genetic conditions. • Different laboratory techniques are…

Key Points • Fetal malformations can be caused by chromosomal defects detectable by fetal karyotype and chromosomal microarray analysis, by sequence variants (mutations) in single genes or can be multifactorial…

Key Points • Chorionic villi, amniotic fluid and fetal blood are the specimen types currently used for prenatal diagnostic testing for chromosome abnormalities. • The spectrum of chromosomal alterations seen…

Key Points • Early diagnosis of structural anomalies is increasingly possible. About half of the congenital anomalies can be diagnosed in the late first trimester. • Severe and often lethal…

Key Points • Amniocentesis is used from 15 weeks of gestation onwards for prenatal diagnosis of chromosomal abnormalities, single-gene disorders, fetal lung maturity, fetal infections and inflammation. • Chorionic villus…

Key Points • The main objective of routine midtrimester ultrasonography (US) is to provide accurate diagnostic information for the delivery of optimised antenatal care, including delivery planning. • Routine early…