Fetal Loss And The Role Of Genetics: Genetic Testing, Fetal Dysmorphology, And Genetic Counseling In Cases Of Spontaneous Abortion

Abstract

Ten to fifteen percent of all recognized human pregnancies result in fetal loss (Gardner and Sutherland 1996). Of these deaths, many are the result of chromosomal abnormalities. G banding with karyotype, fluorescence in situ hybridization (FISH), marker analysis of DNA polymorphisms, and fetal autopsy were examined as methods of diagnosing genetic abnormalities. They were compared based on their advantages and limitations. The financial implications of fetal loss and the role of genetic counseling were also examined. Additional consideration was given to mosaicism, maternal cell contamination, and the value of knowing the parent of origin of the additional chromosome(s). Particular emphasis was placed on studying the two chromosomal abnormalities trisomy 13 and triploidy.