Tijo and Puck (1958) and Hayflick and Moorhead (1961) demonstrated that cells could be grown with relative ease from human tissues and that the resulting cell cultures retained the diploid chromosomal phenotype of the tissue of origin. Skin fibroblasts were shown to remain diploid throughout their extended life in tissue culture. Similar characteristics were later found to apply equally well to cultured amniotic fluid cells (Conover and Hirschhorn, 1971). The ability to determine the fetal karyotype from cultured amniotic fluid cells was achieved independently by Klinger and by Steele and Breg (1966). Valenti et al. (1969) reported the first prenatal diagnosis of Down syndrome in 1968. Experience with the prenatal diagnosis of chromosomal disorders has grown appreciably in recent years (Milunsky et al., 1970; Milunsky, 1973, 1975, 1976; Emery, 1973; Polani and Benson, 1973; Wahlstrom, 1973; Nadler, 1974; Burton et al., 1974; Niermeijer, 1975; Ferguson-Smith and Ferguson-Smith, 1976b; Golbus, 1976; Galjaard, 1976; Boue, 1976).

The Prenatal Diagnosis of Chromosomal Disorders

This paper summarizes our experience with a series of 562 women referred for mid-trimester amniocentesis for prenatal diagnosis. Ultrasonography was utilized for placental localization. Follow-up revealed a fetal loss rate of 3.03 per cent with 1.96 per cent being spontaneous abortions. Patients with an anterior placenta had a fetal loss and spontaneous abortion rate of 4.06 per cent and 3.05 per cent, respectively. No significant difference in the incidence of fetal loss (p greater than 0.1) or spontaneous abortion (p greater than 0.5) was found in patients having an anterior versus a posterior placenta. Neither multiple insertions through an anterior placenta nor blood contaminated amniotic fluid from patients with an anterior placenta were associated with an increased incidence of fetal loss or spontaneous abortion.

Ultrasonic placental localization in relation to spontaneous abortion after mid-trimester amniocentesis.

The second instance of a prenatally diagnosed fetus of D trisomy is reported in a 45-year-old woman. The fetus had bilateral hare lip and cleft palate, arrhinencephaly, and numerous other malformations.

https://jmg.bmj.com/content/jmedgenet/11/4/398.full.pdf

Prenatal detection of D trisomy

Introduction — problemes conceptuels
L’information a donner aux futurs parents avant les tests de calcul de risque pour la trisomie 21 est tres complexe, en raison notamment de la rapidite avec laquelle le depistage s’est mis en place, de la difficulte a gerer les faux-negatifs, les fauxpositifs et les fausses couches induites. S’ajoute a cela qu’un depistage implicite se fait inevitablement et, finalement, que l’acceptation de la trisomie est eminemment variable.

En Belgique francophone: philosophie du calcul du risque pour la trisomie 21 et informations aux futurs parents

Most handicapped children are afflicted early in life and long before they have acquired many skills. They may never have possessed any normal abilities and such abilities as they do have are distorted and abnormal. They have to be trained to develop even basic skills such as walking in the case of a cerebral palsy baby. This is habilitation, not rehabilitation.

P J Gregory

Papers

Antenatal diagnosis of fetal abnormality with special reference to amniocentesis.