A critical analysis of 75 therapeutic abortions

An analysis is presented of the first 75 therapeutic abortions based on the results of laboratory investigations on midtrimester amniotic samples from 2816 pregnancies. The reasons for the abortions were: chromosome aberration (n = 36), male fetus at risk for X-linked disorder (n = 23), neural tube defect (n = 14), and metabolic disorders (n = 2). An estimation was made of the life expectancy of these 75 fetuses if no termination of pregnancy had taken place. We estimate that a maximum of about 40% of the aborted fetuses would have resulted in malformed children at the age of 1 year, or in boys developing serious disabilities during infancy. Financial (cost-benefit analysis) and psychologic aspects are discusse

Amyotrophy of the hands and pyramidal features of predominantly the legs segregating within one large family

Eleven patients of one kindred are described with amyotrophy of the hands or pyramidal features of predominantly the legs or both. Clinical examination indicated neuronal origin of wasting and weakness of the hands, whereas electrophysiological investigations suggested motor neuropathy. It is suggested that both lower and motor neuron signs are segregating as independent autosomal dominant trait

Risks of midtrimester amniocentesis; assessment in 3000 pregnancies

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 involve

Prenatal HLA-matching to determine suitability for allogeneic bone marrow transplantation

For several haematological malignancies, allogeneic stem cell transplantation is the treatment of choice. In most cases an HLA-identical sibling is required. If the mother of a patient is pregnant, cord blood from a related donor, which can be used for stem cell transplantation, might be obtainable in the near future. For the patient, knowledge of the foetal HLA-type can be important since it might influence choice of treatment and timing of transplantation. If the foetus is HLA compatible, as would be the situation in 25% of cases, the delivery has to be arranged in such a way that cord stem cells can be collected. As a result, in the other 75% of cases (spontaneous) delivery can take place in the home/local setting. Here we report four cases in which amniocentesis was performed and HLA-typing influenced treatment of the patient and delivery of the siblin

Karyotypic differences between cells from placenta and other fetal tissues

Six cases are reported with discrepancies between the karyotypes of placental cells and cells from other fetal tissue. The respective findings were: 48, + 7, + 18 resp. 47, + 18. 46,i(18q) resp. 46,del18(p11). 46,XX resp. 46,XX/47,XXX. 46,X,Yq+ and 46,XY resp. 46,XY. 46/47, + 12 resp. 46. 46/47, + 5 resp. 46. These differences were found in both early and term pregnancies. Care should be taken in deducing the fetal karyotype from the chromosomal pattern of placental cell

Prenatal diagnosis of congenital malformations in 500 pregnancies

The organization, techniques used and diagnostic findings of 500 prenatal diagnoses are reported in detail. In 15 cases the pregnancy was terminated because of abnormal laboratory findings. Follow-up of the remaining pregnancies revealed a perinatal mortality of 1.7%, and the risk of an abortion induced by amniocentesis, performed in the 15–16th wk, to be 1–2%. Serious counseling problems arose in 2 cases with trisomy X, in 2 instances of a balanced chromosome translocation and in 1 case of a de novo translocation