Key Points A limited number of congenital malformations of the respiratory tract can be identified directly by prenatal sonography. These malformations should be described systematically because definitive diagnosis requires histologic examination. The identification of subtle lesions that have no detrimental…
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 a tertiary care centre. About 85% of babies born with CHD…
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 discussed. The neurodevelopment stage determines some of the pathological conditions; others are…
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 preferred for high-prevalence areas and countries with migrants from high-prevalence areas. Screening by…
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 used in ECS and include targeted genotyping and next-generation sequencing approaches. The…
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 in origin. Single-gene disorders can be inherited from parents (autosomal recessive,…
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 during prenatal testing include autosomal or sex chromosome aneuploidy, balanced or unbalanced…
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 sampling (CVS) is used from 10 weeks of gestation onwards for prenatal…
Key Points Noninvasive prenatal diagnosis (NIPD) based on analysis of cell-free DNA in maternal plasma for fetal sex determination is now an established clinical service in many countries. NIPD for a small number of single-gene disorders, including achondroplasia, thanatophoric dysplasia,…
Key Points The origins of intact fetal circulating trophoblast cells and nucleated red blood cells in maternal plasma are reviewed, and their pitfalls and promises for noninvasive prenatal testing are discussed. The discovery of cell-free fetal DNA (cffDNA) in maternal…