Further observations of true mosaic trisomy 17 ascertained in amniotic fluid cell cultures.

Three new cases of true mosaic trisomy 17 (MT17) were diagnosed in amniotic fluid cells. Postnatal chromosome analysis from lymphocytes did not confirm the trisomic cell line, and follow-up studies showed normal psycho-motor development of the children, in one case up to the age of 4 1/2 years. We suggest that there are similarities between MT17 and MT20, in which the majority of pregnancies result in deliveries of healthy babies.

On the significance of true trisomy 20 mosaicism in amniotic fluid culture.

Nine new cases of prenatally detected true mosaic trisomy 20 (T20) are reported. In three instances the fetuses were aborted. One fetus showed multiple malformations associated with a high percentage of T20 cells among amniotic fluid (AF) cells and fibroblasts of different fetal tissues.

[Gynecological aspects of prenatal diagnosis of congenital anomalies (author's transl)].

In the light of our own observations, the technique of amniotic fluid puncture in early pregnancy is described, the risk of the procedure to the mother and child is set forth and further responsibilities are explained. Two indication groups predominate: pregnant women of older maternity age and women who have already given birth to a child presenting Down's syndrome. As can be derived from the figures, all gynecologists nowadays must include the possibilities of prenatal recognition of congenital anomalies in family planning and maternity care.