Obgyn Key

Key Points • Congenital diaphragmatic hernia occurs in 1 to 4 in 10,000 births. The condition is isolated in more than 50% of the cases. • The main causes of…

Key Points • When a fetal urinary tract anomaly is identified, careful ultrasound examination is required to exclude coexistent anomalies. • In the presence of a coexistent anomaly, the risk…

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…