Biomedical subjects
Publications and source records attributed to D Donnai.
A father and son with hypertelorism and hypospadias are reported. The father has further, relatively mild, signs of the G syndrome, but his son has severe manifestations, including stridor, feeding difficulties and cardiac anomalies. This supports autosomal dominant inheritance.
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After retrospective evaluation with stored samples, the qualitative acetylcholinesterase (AChE) test has been used prospectively in conjunction with alpha-fetoprotein (AFP) assay on 986 amniotic fluid specimens received in this laboratory during 1980. The main value of AChE is in classifying fluids in which the AFP level is near the threshold between normal and abnormal. Among abnormal pregnancies with raised AFP levels, neural-tube defects can generally be distinguished from other abnormalities by careful appraisal of the AChE gel pattern, but confirmation of these other fetal abnormalities may require high resolution diagnostic ultrasonography and perhaps fetoscopy. Neural-tube defects with false negative AFP levels can be detected by AChE, but AChE gives occasional false positives so that it cannot be relied on in isolation for the diagnosis of neural-tube defects.
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An Ashkenazi Jewish woman had a child with Niemann-Pick disease in her first marriage. She subsequently remarried a man who was also heterozygous for the condition and conceived twins. Prenatal diagnostic tests were performed and one twin was shown to be homozygous and the other heterozygous for Niemann-Pick disease. The problems of prenatal diagnosis and counselling in twin pregnancies are discussed.
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Amniocentesis was performed in 219 pregnancies because a previous pregnancy produced a fetus with neural tube defect (NTD) and in 212 pregnancies in which the indication for amniocentesis was a high maternal serum alphafetoprotein (AFP) level. The proportion of abnormal fetuses, the frequency of low birth weight infants, and the frequency of undesired fetal loss were significantly greater in the group with high maternal serum AFP, in which there was also a significant excess of male births. It is concluded that maternal serum AFP screening defines a group of high risk pregnancies. The greater fetal loss and low birth weight associated with high maternal serum AFP levels were not the result of amniocentesis but were an inherent feature of these pregnancies.
As a means of assessing the value of fetal serum-creatine-kinase (S.C.K.) levels in the antenatal diagnosis of Duchenne muscular dystrophy (D.M.D.), fetal muscle from control and at-risk fetuses was studied histologically and the findings were related to fetal S.C.K. levels. Of 7 at-risk fetuses 4 were believed to have normal muscle and all these had normal S.C.K. levels. However, of 3 fetuses with abnormal muscle only 1 had a raised S.C.K. level. At present caution should be exercised in offering antenatal diagnosis in D.M.D. on the basis of fetal S.C.K. levels.
The clinical and radiological features of a male child with multiple malformations are described. He appears to be an example of a new syndrome recently described by Schinzel and Giedion (1978).
Four fetuses at risk of the autosomal dominant Treacher-Collins syndrome were examined by fetoscopy in the second trimester of pregnancy. Findings were normal in two cases and healthy babies were delivered after uneventful pregnancies. Mandibular hypoplasia and abnormalities of the palpebra and auricles were seen in the other two fetuses; one had an associated cleft palate. These pregnancies were terminated and the diagnoses confirmed by post-mortem examination.
Prune belly (urethral obstruction sequence) has previously been reported as an isolated malformation sequence, in association with trisomy 18 (Nevin et al., 1983) and more recently with trisomy 13 (Beckman et al., 1984). A further case associated with trisomy 13 in a fetus is reported. This emphasizes the importance of karyotyping fetuses with prune belly identified prenatally.
HLA-A and B antigens were studied in 88 Caucasoids with chronic pancreatitis resident in the Manchester area. In the subgroup of 52 patients with alcohol-related chronic pancreatitis HLA-B21 was significantly increased in frequency compared with 344 local controls (Pc = 0.0128). In the non-alcoholic sub-group of 36 patients, the incidence of HLA-A1 was significantly higher than in controls (Pc = 0.0021); whilst HLA-B8 was present in 38.8% of patients and 27.9% of controls. When these data are amalgamated with data from Lyon (France), the antigen HLA-A1 is significantly associated with non-alcoholic chronic pancreatitis.