Thyroid antibodies are not a risk factor for pregnancies with down syndrome

The observation that thyroid disease is frequent in mothers of children with Down syndrome (DS) has suggested that maternal thyroid antibodies could be a factor predisposing to trisomy 21 in their offspring. In this study, the incidences of thyroglobulin (Tg) and thyroid peroxidase (TPO) antibodies were analysed with a sensitive solid-phase immunosorbent radioassay in sera from 29 mothers giving birth to children with trisomy 21 and 87 control mothers. The serum samples were collected at delivery. There was no statistical difference regarding the proportion of thyroid antibodies (against Tg and/or TPO) in the two groups. Thyroid antibodies were detected in 6/29 (20.7 per cent) of the DS mothers and in 23/87 (26.4 per cent) of the control mothers. Among the women with thyroid antibodies, 4/6 (66.7 per cent) of the DS mothers and 12/23 (52 per cent) of the control mothers had antibodies against both Tg and TPO. There was no increase in the relative risk of having a child with DS if the titre of either Tg or TPO antibodies or both were positive, i.e. ≥ 1/5. The results indicate that the presence of thyroid antibodies in the serum of a pregnant woman has no prognostic value for the birth of an infant with DS.     

Peri- and paracentric inversions in chromosome 12: Prenatal diagnosis and family study

Three different types of chromosome 12 inversion were seen in 15 individuals out of 44 individuals examined in one 8 generation family. Type 1: a pericentric inversion inv(12) (p112; q131) was found in 7 individuals and twice at prenatal diagnosis. Type 2: a paracentric inversion inv(12) (p123; p131) was seen in two individuals. Two individuals carried both inversion chromosomes, namely type 1 and type 2. The two inversion chromosomes were transmitted from each of the parents. Type 3: a double pericentric and paracentric inversion (type 3) inv(12) (p123; p131) (p112; q131) was observed in the daughter of one of the carriers of type 1 and 2 inversions and again at prenatal diagnosis in her son. The double inversion most likely arose through crossing-over in between the two inversion loops. A balanced translocation t(7; 13) and the inversion type 1 was observed in one individual, who transmitted the translocation only to an offspring. The frequency of inversions in amniotic fluid cells observed in our laboratory was 1·9 per cent. The clinical implications of these findings are discussed.     

Amniotic fluid alpha-fetoprotein levels and prenatal diagnosis of autosomal trisomies

Pregnancies with fetal trisomy 21 have been associated with low amniotic fluid alpha-fetoprotein levels (AFAFP). This observation led to the suggestion that low AFAFP levels be used as a criterion for completion of a chromosomal analysis in patients who are not otherwise at increased risk for a fetal chromosome abnormality and in whom karyotyping might not have been completed for economic reasons. In order to assess the usefulness of such criteria, we reviewed the AFAFP levels of 90 cases of fetal trisomy 21, 23 cases of trisomy 18, and 10 cases of trisomy 13. These were compared with 2400 control samples with normal chromosome constitution. AFAFP levels were generally lower in pregnancies with trisomy 21, showing a median value of 0·72 MoM. However, 40 per cent of the trisomy 21 samples had AFAFP values greater than 0·8 MoM and 20 per cent were over 1·0 MoM. These data imply that over 50 per cent of Down syndrome cases might have been missed using a cut-off level of 0·70 MoM for completion of chromosome analysis. Using a higher cut-off level will leave only a small percentage of samples unkaryotyped. The distribution of AFP levels in trisomy 13 and 18 is no different from controls; we therefore believe that fetal karyotyping should be completed in every amniotic fluid sample obtained.     

Ein quantitatives Strukturmaß in der digitalen Bildverarbeitung

Die Idee zu dieser Arbeit geht auf Diskussionen mit W. Priester über die Reduktion von Radiobeobachtungen ausgedehnter Galaxien im Jahre 1974 zurück. Die wesentlichen Teile wurden während eines Aufenthalts des Autors am Department of Astronomy, University of Florida, Gainesville, im Jahre 1987 entworfen. Ich habe ferner vielen Kollegen für hilfreiche Hinweise zu danken, darunter E. E. Baart, J. Condon, T. Cornwell, L. Erickson, S. Gottesman, J. Högbom, J. Skilling.