No abstract

The case of a patient with a monosomy 3p25, due to a deletion of the distal part of chromosome 3, is presented. To our knowledge this is the first patient described with this anomaly. Severe psychomotor retardation, an asymmetric skull, the facial appearance, and ear anomalies were the most striking features on examination. The parental karyotypes were normal. The localization of the breakpoint, and the possibility of roentgenographic influence in the etiology of this case are discussed.

Summary. The obstetric outcome of 3000 pregnancies with midtrimester amniocentesis was followed in all but one patient. Thirty pregnancies ended in fetal death or abortion within 3 weeks after amniocentesis. Chronologically 23 of these occurred in the first series of 1500 pregnancies and the remaining seven fetal deaths/abortions within 3 weeks after amniocentesis occurred in the second series of 1500 pregnancies. Fetal loss within 3 weeks after amniocentesis was apparently related to the experience of the obstetrician and to the use of modern ultrasound guidance. It is concluded that the risk of fetal death after midtrimester amniocentesis is approximately 0.5%, if only experienced obstetricians using modern techniques are involved.

By means of questionnaires, 100 women were asked for their experiences concerning prenatal diagnosis. At four standardized stages of the pregnancy a questionnaire was filled in asking for: expectation, knowledge, attitude towards termination of the pregnancy in case of abnormal findings, reactions to the counselling and the obstetric treatment, interpretation of own risk, experiences since the normal test results were known and ideas to improve the treatment. With regard to the effect of pre-amniocentesis counseling it is concluded that the counselling had little impact on decision making; the counselling caused an increase of factual knowledge: somewhat more than half of the women who did not give a correct answer before counselling, indicated the right answer some time afterwards. Presumed differences in reaction patterns for a number of characteristics were not affirmed by the study; the reactions during the procedure of prenatal diagnosis seem to be highly individual and difficult to predict. In addition to the reaction of the 100 women described in this study, the responses to the first questionnaire of another 16 patients, declining amniocentesis after counselling, are presented.

A clinical description is given of a syndrome present in three postnatally and two prenatal‐ly detected cases with partial trisomy 16p, caused by a familial translocation t(16;21) (pll;q22). The most consistent features of this syndrome are: low birth weight, small head circumference, low‐set ears, palato(gnatho)schisis, micrognathia, thumb‐agenesis or hypoplasia, hypertonia, overlapping fingers, single umbilical artery, and psychomotor retardation. The clinical picture was identical to that described by Roberts & Duckett (1978) for a single case.