Current medical practice is using an increasing number of new and sophisticated techniques to deal with the fetus during pregnancy and not focusing exclusively on the immediate perinatal period. Some of these techniques deal with the occurrence or risk of serious genetic disease in the newborn. These procedures, which offer alternatives to the birth of seriously defective children, pose new problems in critical decision-making for contemporary parents. Proper medical care for the mother in such situations requires an understanding of the psychological as well as the medical and genetic aspects of each situation. It includes careful and caring communication of this information to the parents early in the gestational period, supportive care during the pregnancy and the procedures, and supportive counseling and follow-up afterwards. Properly applied, current genetic counseling diagnostic techniques as used by the physician can be extremely helpful to his patients in achieving the healthy family they desire.

Abortion, Induced↗

PubMed1976

Community screening for Tay-Sachs disease.

Tay-Sachs disease is a fatal genetic disease affecting Jewish infants of eastern European ancestry. While the disease may go unrecognized until nearly one year of age, death occurs by age three or four. Community screening programs have been organized to detect carriers of this autosomal recessive trait. Prenatal diagnosis now allows carrier couples to have normal children without the risk of having an affected child. These programs hopefully will serve as models for the future prevention of other genetic diseases.

Amniocentesis↗

PubMed1976

Diagnostic use of meternal serum alpha-fetoprotein levels.

Alpha-fetoprotein (AFP) levels in human maternal serum were elevated in 14 patients when measured by a radioimmunoassay. In 8 patients the elveated serum levels of AFP correlated with increased concentration of AFP in amiotic fluid and were diagnostic of fetal defects. The elevated AFP levels in the remaining 6 patients were shown to be the result of fetomaternal transfusion from either amniocentesis or natural causes. Serum samples drawn after amniocentesis through an anterior placenta may show false-positive elevations. The use of both maternal serum and amniotic fluid samples in pregnancies at high risk for neural tube defects can decrease the risk of diagnostic errors due to mistakes in gestational datind and may increase the diagnostic sensitivity of amniocentesis.

Amniocentesis↗

PubMed1974