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. •…
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…
Key Points • First trimester screening for Down syndrome (DS) with a combination of ultrasound, nuchal translucency and two maternal serum markers (combined test) has a much better performance than…
Key Points • Screening is the identification of unrecognised disease or defect found by testing an asymptomatic population. • Prenatal screening detects conditions that are deleterious to the mother, fetus…
Key Points • Good practice in information giving is essential as choosing to have a prenatal screening test can have far-reaching consequences. • To be of good quality, information must…
Key Points • A fetus can be treated but is not a patient in the normative sense of the term. • Because a fetus can only be treated via the…
Key Points • Survival at birth depends upon the lung attaining an adequate size and degree of structural maturity during fetal life. This chapter deals with mechanisms underlying normal and…
Key Points • The randomised controlled trial (RCT) is the least biased method of assessing the effectiveness of clinical interventions. It has been little used in fetal medicine, but reports…
Key Points • Development of the kidneys (nephrogenesis) occurs between the 5th and 32nd weeks of human gestation when the ureteric bud interacts with metanephric mesenchyme, which undergoes mesenchymal–epithelial conversion…
Key Points • Perinatal autopsy (examination after death) fulfils several roles, including determination or clarification of the underlying diagnosis, answering specific questions raised by parents and clinicians, quality assurance, governance…
