Prenatal Diagnosis

Editor(s): International Committee of Paediatricians Annales Nestlé Vol.59 / 1,  2001
  • Prenatal Diagnosis of Chromosome Aberrations

    Author(s): GE. Schwanitz, R. Raff

    Over the last few decades, prenatal diagnosis has become more and more extensive and important. This trend dates back to the discovery of the human karyotype by Tjio and Levan in 1956. In the years following this discovery, numerous congenital anomalies resulting from chromosome aberrations were detected. Today, mainly as the result of advances in and continuous enhancement of tissue-sampling and cellcultivation techniques, certain foetal diseases can be investigated and diagnosed even during pregnancy. Amniocentesis, which made sex determination from amniocytes possible for the first time as early as in 1956 and thus confirmed the high predictive value of this method. Foetal cells obtained from amniotic fluid were cultivated successfully for the first time in 1966. The introduction of banding techniques opened up even further diagnostic avenues between 1968 and, as did above ail, the development of ultrasonic procedures in the second half of the 1970s. In addition to chromosome analysis at various stages of gestation, methods for detecting monogenic mutations also have been developed. Such mutations can be identified with the help of gene product analyses and, in cases involving a known genetic defect, directly by DNA analyses.

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