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…
A broad range of testing modalities for fetal genetic disease has been established. These include carrier screening for single-gene mutations, first-trimester and second-trimester screening for chromosome abnormalities and open neural-tube…
