Any of various diagnostic procedures to determine whether the fetus has a genetic or other abnormality. The procedures involve X rays and ultrasonography (sonograms), which can reveal structural abnormalities and allow growth to be followed; amniocentesis, in which amniotic fluid is withdrawn for analysis and identification of chromosome and metabolic defects; and fetoscopy, whereby fetal blood can be withdrawn and analyzed.
Diagnostic procedures carried out on pregnant women in order to discover genetic or other abnormalities in the developing fetus. The investigations involve the use of X-rays, ultrasound scanning, thermography, and analysis of amniotic fluid (obtained by amniocentesis) or of fetal blood (obtained by fetoscopy). Some of the techniques, including amniocentesis, involve possible risks to the mother and/or fetus and should not be undertaken without good cause. If the results indicate that the child is likely or certain to be born with severe malformation or abnormality, the possibility of abortion is discussed by the doctors involved and the parents.
Identification of disease or congenital defects of the fetus during gestation. A growing number of pathological conditions can be diagnosed by analyses of maternal blood and such tests as chorionic villi sampling, ultrasound, embryoscopy, amniocentesis, and fetoscopy. Thus, the gender, inherited characteristics, and current status of the fetus can be identified as early as the first trimester, helping parents in their decision-making if findings indicate an incurable disorder. Mid-trimester and last trimester tests provide information regarding the physical characteristics of the fetus and placenta, and analysis of amniotic fluid allows estimation of fetal age and maturity and may improve intrauterine management of treatable disorders.
The assessment of whether a fetus exhibits a disease or disorder during its prenatal stage.