Andrew T. L. Chen

Prenatal Chromosomal Diagnosis: Racial and Geographic Variation for Older Women in Georgia

In a study of Georgia women aged 40 years and older, 15% made use of prenatal chromosomal diagnosis. There was, however, substantial racial and geographic variation, ranging from a use ratio of 60% among whites in two large urban counties to 0.5% among blacks outside Augusta and Atlanta health districts. This simple population-based epidemiologic analysis suggests that future program planning for genetic services in Georgia should address ways to increase access by rural women, especially blacks. Similar analyses in other states could be used for planning genetic services.

First-trimester fetal chromosomal diagnosis using endocervical lavage: A negative evaluation

A report in the literature indicated that fetal cells could be obtained by endocervical lavage during the first trimester of pregnancy and successfully cultured. This would allow prenatal diagnosis earlier in pregnancy than is currently possible with second-trimester amniocentesis. Therefore, we attempted to confirm these findings. Our results indicated that the cultural cells were maternal in origin. We disagree with interpretations of the data given in the initial report and conclude that first-trimester prenatal diagnosis is not feasible at this time.

Cytogenetics of Recurrent Abortions

Chromosome banding studies were carried out on both partners of 37 couples who had had two or more spontaneous abortions. Three patients had chromosome disorders; one was a triple-X female and the other two (one male and one female) were t(13;14) translocation carriers. Review of the literature indicates that the over-all frequency of major chromosome disorders in couples with repeated abortions is 2.6%. About three-fourths of these disorders are reciprocal and Robersonian translocations.