Although most prenatally diagnosed correctable anatomic abnormalities are best addressed by surgical interventions after birth, the outcomes of a small number of severe structural malformations with predicted fetal demise or…
Delaying childbirth increases the proportion of advanced maternal age pregnancies. This increases the number of pregnancies requiring invasive prenatal testing. Prenatal diagnosis of chromosomal aneuploidies and monogenic disorders requires fetal…
For over a decade, researchers have focused their attention on the development of non-invasive prenatal diagnosis tests based on cell-free fetal DNA circulating in maternal blood. With the possibility of…
Invasive diagnostic procedures (e.g chorionic villus sampling and amniocentesis) remain essential to the complete prenatal genetic diagnosis armamentarium. Both procedures are relatively safe in experienced hands, carrying procedure-related losses of…
Three-dimensional ultrasound and magnetic resonance imaging are powerful imaging techniques that are used increasingly in evaluating fetal anatomy. In this chapter, we review the main applications of these imaging modalities…
Ultrasonography is used routinely during pregnancy to screen and diagnose fetal anomalies. Two-dimensional ultrasound is usually adequate in women at low risk for malformations. When technical factors limit optimal evaluation…
Over the past decade, prenatal screening and diagnosis has moved from the second into the first trimester, with aneuploidy screening becoming both feasible and effective. With vast improvements in ultrasound…
Pre-implantation genetic diagnosis is used to analyse pre-implantation stage embryos or oocytes for genetic defects, generally for severe Mendelian disorders and chromosome abnormalities. New but controversial indications for pre-implantation genetic…
The ethics of diagnosis and management of fetal genetic disorders are particularly controversial because of the contested status of the fetus and perceptions of genetics. An additional complicating factor is…
The advent of ultrasound in the 1970s heralded a milestone that could give real-time information about fetal abnormalities, and thereby improve diagnostic accuracy. This knowledge could not be used effectively…
