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Article
Are fetal cells in maternal plasma really there? We think they are
We describe a single centrifugation procedure that resulted in the recovery of fetal cells in maternal blood in 77% of normal male pregnancies and in 87.5% of aneuploid pregnancies. There was an average yield ...
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Article
Demographic Studies from a National Gaucher Disease Screening Program
In May 1993, the National Gaucher Foundation initiated a nationwide Gaucher disease screening program in an attempt to promote recognition of the disease and to detect previously undiagnosed indi...
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Article
An Assessment of Ethnocultural Beliefs Regarding the Causes of Birth Defects and Genetic Disorders
With the expansion of genetic services to various cultural groups, genetic counselors encounter clients who hold diverse beliefs inscribed by their culture about health conditions. Thus, clients ...
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Article
Pre-screening education in multiple marker screening programs: The effect on patient anxiety and knowledge
Previous studies have shown that unexplained deviations in maternal serum multiple marker screening (MMS) generate considerable anxiety during the remainder of pregnancy. While the role of education in decreas...
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Article
Training Genetic Counselors to provide teratogen counseling
Provision of teratogen counseling requires acquisition of knowledge and skills from several disciplines. Traditionally, training in teratogen counseling has occurred “on the job.” We describe a formal, didacti...
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Article
The preimplantation genetic diagnosis of genetic diseases
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Preimplantation Genetic Diagnosis: Approaches and Current Status
The standard approaches to the prenatal diagnosis of genetic diseases are chorionic villus sampling, amniocentesis and, more recendy, percutaneous blood sampling. Each of these procedures is associated with ob...
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Current and Future Perspectives of Fetal Genetic Diagnosis
The past 25 years have been a time of remarkable advances in medical genetics, particularly in prenatal diagnosis and prevention of genetic disorders. In 1976, the National Institutes of Health (NIH) completed...
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Article
Clastogen-induced chromosomal breakage as a marker for first trimester prenatal diagnosis of Fanconi anemia
Using cultured trophoblast cells obtained by chorionic villus biopsy, we diagnosed Fanconi anemia (FA) in two pregnancies and excluded it in eight pregnancies at risk for the syndrome. Baseline chromosomal bre...
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Article
DYSMORPHIC SYNDROME, SPHEROCYTOSIS AND PARTIAL DELETION OF THE SHORT ARM OF CHROMOSOME 8
Congenital spherocytic anemia is a relatively common disorder but the genetic defect has not yet been definitively mapped to a chromosome. We studied a family in which 2 of 3 children were dysmorphic, affected...
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Article
HYPEREOSINOPHILIC SYNDROME (HES) WITH CHROMOSOME 14 MARKER AND BONE MARROW LYMPHOBLASTS
The HES is characterized by persistent eosinophilia and significant organ damage and is likely of diverse etiology. The relationship of HES to leukemic disorders has been particularly difficult to clarify. We ...
