Published Research

Basic science research focuses on the condition—Trisomy 18, whereas clinical research focuses on patients with a diagnosis of Trisomy 18 (or any other related condition). We expect to share abstracts in the published scientific literature in both areas on a regular basis in this area.

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Research Articles

Clinical Research:   

NIH FASTER Study Concludes First Trimester Screening Is Better Than Second Trimester Down Syndrome Screening
First trimester Nuchal Translucency/freeBeta/PAPP-A prenatal screening for chromosomal disorders (Downs, T18/T13) has been confirmed by the NIH FASTER Study to be more effective than second trimester screening methods.
 
Population-Based Analyses of Mortality in Trisomy 13 and Trisomy 18
A study of mortality in patients with trisomy 18 and 13.
 
Trisomy 18 and Hepatoblastoma
Brief Clinical Report from the American Journal of Medical Genetics about a child with trisomy 18 and hepatoblastoma.
 
Management of infants with large, unrepaired ventricular septal defects (VSDs)
Management of infants with large, unrepaired ventricular septal defects and respiratory infection requiring mechanical ventilation
 
Environmental Causes of Human Congenital Malformations
Environmental Causes of Human Congenital Malformations: The Pediatrician's Role in Dealing With These Complex Clinical Problems Caused by a Multiplicity of Environmental and Genetic Factors
 
 

Scientific Research:   

Playing for Half the Deck - the Molecular Biology of Meiosis
Understanding Meiosis and the results of its failure.
 
Sorting out Chromosome Errors
Researchers are struggling to understand - and possibly overcome - aneuploidy, themost common cause of miscarriage.

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