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Biomedical subjects

Robert G Resta

Publications and source records attributed to Robert G Resta.

9 recordsLinked to original sources

Defining and redefining the scope and goals of genetic counseling.

Many definitions of genetic counseling have been proposed since Sheldon Reed first defined the term in 1947. This study reviews selected definitions of genetic counseling including the most recent definition proposed by a committee of the National Society of Genetic Counselors. The analysis focuses on the professional background of who was formulating the definition; the reasons why the definition was created; medical, historical, and social factors; and the definer's implicit or explicit goals of genetic counseling. No definition of genetic counseling is ideal, and any definition can only reflect the values, ethics, goals, and medical practices of the person or group defining the practice of genetic counseling.

Eugenics↗

Holoprosencephaly and limb reduction defects: a consideration of Steinfeld syndrome and related conditions.

Individuals with holoprosencephaly (HPE) and limb reduction defects have been ascribed historically to a variety of syndromes with overlapping phenotypic features. As such, these patients are challenges for clinicians and researchers alike. In an effort to better understand this association, we reviewed our autopsy records and identified five cases of HPE with reduction defects of the limbs and other anomalies. One case appears to be the third reported instance of Steinfeld syndrome, while others represent microgastria-limb reduction sequence, VATER/VACTERL association, and an additional unique condition characterized by HPE, rhombencephalosynapsis, absent left radius, first metacarpal, and thumb, and congenital heart disease. The phenotypic heterogeneity inherent in these patients continues to complicate diagnosis, which will hopefully be simplified by continuing delineation at morphologic and especially genetic levels.

Abnormalities, Multiple↗

Changing demographics of advanced maternal age (AMA) and the impact on the predicted incidence of Down syndrome in the United States: Implications for prenatal screening and genetic counseling.

This study documents the changes in the percentages of advanced maternal age (AMA) pregnancies in the United States and in Washington State, underlying demographic factors, the impact on the predicted incidence of Down syndrome, and its impact on Down syndrome screening. Data on births in the United States from 1933 to 2002 were obtained from publications and the website of the National Center for Health Statistics. Data for Washington State were obtained from the website of the Washington State Department of Health. Information on births at Swedish Medical Center was obtained from hospital records. The percentage of AMA pregnancies in the US was about 14% before World War II, dropped steadily to about 5% in the 1970s and rose since the 1980s to about 14% in 2002. AMA Fractions are greatest among non-Hispanic Caucasians and Asian/Pacific Islanders, women who have college education and beyond, and are married. However, since 1980, the AMA Fractions have increased across all racial/ethnic groups, educational levels, and married and unmarried women. In Washington State in 2001, the overall AMA Fraction was about 14%, but there was considerable variation in the AMA Fraction across counties. In 1980, AMA pregnancies accounted for about 25% of pregnancies with Down syndrome in the United States. In 2002, AMA pregnancies accounted for more than 50% of Down syndrome pregnancies. Given the current AMA Fraction, offering amniocentesis to women of age 35 and above would result in one in seven pregnant women undergoing amniocentesis. Based on likelihood ratios, AMA as a screening strategy for Down syndrome is significantly inferior to combined serum and sonographic screening.

Adult↗

Historical aspects of genetic counseling: why was maternal age 35 chosen as the cut-off for offering amniocentesis?

The justification for offering amniocentesis to women age 35 or older is that by age 35 the risk of having a child with chromosome problem is greater than the risk of amniocentesis. In fact, this seemingly objective statement is not supported by historical analysis. Maternal age 35 was chosen for the cutoff based mostly on economic cost-benefit analysis rather than objective medical assessment. The story of why 35 was chosen illustrates how collective memory can affect, and be influenced by, the guiding ethical principles of a medical profession.

Age Factors↗