Prenatal diagnosis of a number of congenital diseases is possible by amniocentesis in the 14th - 16th week of pregnancy and subsequent analysis of cultured amniotic fluid cells or amniotic fluid supernatant. Parents at risk for a child with a chromosomal disorder, an X-linked disease, a neural tube defect or a metabolic disease may use this new tool in genetic counseling to limit their further offspring to unaffected children by requesting termination of a pregnancy when a fetal abnormality has been detected. The present thesis describes methodological studies in the field of prenatal diagnosis of metabolic diseases and clinical applications of prenatal monitoring in a series of 350 pregnancies with an elevated risk for a chromosomal aberration, an X-linked disease, a metabolic genetic disorder or a neural tube defect

Additional Metadata
Keywords congenital disease, prenatal diagnosis
Promotor H. Galjaard (Hans)
Publisher Erasmus University Rotterdam
Persistent URL
Niermeijer, M.F. (1975, June 25). Prenatal diagnosis of congenital diseases. Erasmus University Rotterdam. Retrieved from