Restrictive dermopathy and fetal behaviour

We report three siblings from consecutive pregnancies affected with restrictive dermopathy (RD). During the second pregnancy, fetal behavioural development and growth were studied extensively using ultrasound at 1–4 week intervals. Dramatic and sudden changes occurred in fetal body movements and growth but not until the end of the second trimester of pregnancy. Prominent at that time were prolonged periods of fetal quiescence and very low heart rate variability, together with abnormally executed body movements of short duration. Retarded femoral development and jerky abrupt fetal body movements (abnormal movement quality) were already present in the early second trimester of pregnancy. Facial anomalies emerged despite the presence of fetal mouth movements. The clinical features of RD were only partly explained by present knowledge of skin development and the fetal akinesia deformation sequence hypothesis. Quantitative assessment of fetal movements proved to be a poor early marker for antenatal diagnosis of this disorder. Copyright © 2001 John Wiley & Sons, Ltd.     

Prenatal diagnosis of mosaic 4p – in a fetus with trisomy 21

Mosaicism for the Wolf-Hirschhorn syndrome, del(4)(p16), is extremely rare and has not been reported in association with a numerical chromosome abnormality. We report the prenatal diagnosis of mosaic del(4)(p16) and non-mosaic trisomy 21 in a 16-week female fetus. The pregnancy ended in spontaneous abortion at 34 weeks secondary to fetal demise. The fetus had features of both 4p – and trisomy 21.     

Prenatal sonographic diagnosis of intracranial haemorrhage: Report of a case with a sinusoidal fetal heart rate tracing,and review of the literature

The sinusoidal fetal heart rate pattern has been described in association with severe fetal anaemia, with fetal hypoxaemia, and with the administration of parenteral narcotics. Here, we report a case of decreased fetal movement in which a sinusoidal tracing was recorded. The sonographic diagnosis of a massive fetal intracranial haemorrhage was made. A non-interventive approach was taken and the fetus died soon after in utero. We review 28 previous cases in which the prenatal sonographic diagnosis of fetal intracranial haemorrhage was made, including the underlying maternal and fetal factors and neonatal outcomes. We propose that the sinusoidal tracing in this case was due to the intracranial bleed and suggest that fetal intracranial haemorrhage be considered in the sonographic evaluation of the fetus with a sinusoidal pattern.     

Prenatal diagnosis of β thalassaemia by reverse phase HPLC

Reverse phase HPLC of radioactive globin chains has been compared to classical carboxy methyl cellulose chromatography for the prenatal diagnosis of β thalassaemia. The two methods correlated highly (r = 0.97 p < 0.0005) and provided an identical diagnosis for 40 fetal blood samples of fetuses homozygous or heterozygous for β thalassaemia. The HPLC procedure was much faster and required fewer biochemical steps (no globin preparation). It was at least as accurate and more sensitive than the classical chromatography. A single column can be used for 150 analyses and is always ready to be used. Last but not least it is much less expensive than CMC chromatography.     

Activity of biotin-dependent and gaba metabolizing enzymes in chorionic villus samples: Potential for 1st trimester prenatal diagnosis

We have documented the presence of five mitochondrial enzymes in samples of chorionic villus tissue and measured the levels of activity. Three of the enzymes catalyse biotindependent reactions. These are propionyl-CoA carboxylase, 3-methylcrotonyl-CoA carboxylase and pyruvate carboxylase. the other enzymes. 4-aminobutyric acid aminotransferase and succinic semialdehyde dehydrogenase, are involved inthe degradation of the central inhibitory neurotransmitter GABA. Distinct diseases in whichthere is deficiency of each of these enzymes have been documented in man. Significant levels of activity were observed for all five enzymes in chorionic villus tissue. This methodology should permit early prenatal diagnosis of deficiencies of these enzymes by chorionic villus biopsy in the first trimester.     

Citrulline in amniotic fluid and the prenatal diagnosis of citrullinemia

We report relatively high citrulline concentration in amniotic fluid of a citrullinemic fetus suggesting that prenatal detection of this condition could be done on this basis in conjunction with a direct or an indirect determination of argininosuccinate synthetase activity in amniotic fluid cells.     

Preimplantation diagnosis: A patient perspective

A new dimension in the prevention of birth defects will be achieved when genetic diseases can be routinely diagnosed in embryos prior to implantation. The impressions and attitudes towards preimplantation diagnosis were studied in prospective patients, women at high reproductive risk for a genetic disease. Their perspective highlighted not only the advantages and disadvantages of this new approach, but also those changes necessary in order for preimplantation diagnosis to become a useful and practical technique. The data presented are based on information obtained by a mailed questionnaire answered by 58 women. The main benefit of preimplantation diagnosis for these high-risk women would be the ability to undertake a pregnancy without having to be subjected to the physical and/or emotional trauma of elective termination. Their major concerns related to possible damage to the embryo following biopsy, the cost of the procedure, and the low success rate of completed pregnancies. Other issues to be addressed before preimplantation diagnosis could begin to compare favourably with existing forms of prenatal testing were that the methods of obtaining oocytes or embryos should be simple, well tolerated, highly efficient, and low in maternal risk, and that the genetic analysis of embryonic or extraembryonic cells should be unequivocally accurate.     

Prenatal diagnosis for the detection of down syndrome: Why are so few eligible women tested?

Postpartum women ≧ 33 years were interviewed about their attitudes to and knowledge and use of prenatal diagnosis. Overall, 68 per cent had heard of prenatal diagnosis; nevertheless, only 30 per cent of those ≧ 35 had actually been tested. The only significant difference between eligible women who were tested and those who were not was maternal age. Of those tested, half requested it for themselves; conversely, only two-thirds of women requesting the procedure actually received it. Among women not tested, 82 per cent were never offered the procedure by the physician. Expressed attitudes to prenatal diagnosis were strongly positive among all women, with 75 per cent continuing to want testing after learning both their age-specific risk of having an affected child and the possible risks of amniocentesis. The data document a potential demand for amniocentesis far in excess of current use and present service facilities. They suggest, moreover, that underuse may reflect professional hesitation and underreferral more than consumer lack of demand or reluctance to be tested.