Prenatal diagnosis of spinal muscular atrophy in Russia

Ninety-two families with spinal muscular atrophy (SMA) applied for genetic counselling and further prenatal diagnosis. To minimize expenses, only one tightly linked informative marker was determined in the course of preliminary examination, and non-radioactive allele detection was preferably used. Four prenatal diagnoses of SMA type I, four of SMA type II, and one of SMA type III were made. This trial programme shows the considerable requirements, importance, and potential effectiveness of prenatal prediction of SMA in Russia.     

An accessory marker derived from chromosome 20 and its co-existence with a mosaic trisomy 20 cell line

We report a 16-month-old boy with delayed psychomotor development, dysmorphic features, and failure to thrive. He had a mosaic karyotype detected prenatally: mos 46,XY/47,XY,+r(20)/47,XY,+20. After birth, the abnormal cell lines were confirmed in a number of tissues. The small ring chromosome was identified using fluorescence in situ hybridization as derived from chromosome 20. We compared our patient with previously reported cases of mosaic trisomy 20 detected prenatally and associated with an abnormal phenotype. In an attempt to characterize an r(20) syndrome, we also compared our case with two similar reports in the literature.     

Rapid fetal karyotype from cystic hygroma and pleural effusions

Fluid from pleural effusion (n=2) and cystic hygroma (n=7) was obtained from eight fetuses, between 13 and 32 weeks of pregnancy at the time when a conventional prenatal diagnosis procedure was carried out. As these fluids contain lymphocytes, they were processed like peripheral blood. A karyotype was obtained in 4 days in both cases of pleural effusion and in four out of seven samples of cystic hygroma. An abnormal karyotype was detected in three of the four samples of cystic hygroma: two trisomies 21 and a monosomy X. Different parameters were evaluated in order to predict the feasibility of obtaining a cytogenetic diagnosis. Our data showed that if the amount of fluid obtained was ⩾4 ml and the initial lymphocyte count (ILC) was >0.2 × 10⁶ cells/ml, a cytogenetic diagnosis was possible from an initial concentration of cultured lymphocytes )ICCL) of >0.06 × 10⁶ cells/ml.     

Genetic amniocentesis following multifetal pregnancy reduction to twins: Assessing the risk

Fifty-three patients who elected to reduce their pregnancies to a twin gestation in our centre are known to have subsequently undergone genetic amniocentesis. Five of these patients lost their entire pregnancy following the genetic amniocentesis procedure. This is equivalent to a 9·4 per cent pregnancy loss rate for reduced twin gestations in comparison with an expected loss rate of 2 per cent for non-reduced twin gestations.     

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 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.     

DNA-based carrier detection and prenatal diagnosis of tyrosinase-negative oculocutaneous albinism (OCA1A)

We describe molecular prenatal diagnosis and carrier detection of tyrosinase-negative oculocutaneous albinism (OCA1A) in two families. In one family, we carried out DNA-based prenatal diagnosis of OCA1A. In the other family, mutation analysis and carrier detection obviated the need for prenatal diagnosis. Molecular analysis is safer and probably more accurate than fetoscopy and fetal scalp biopsy, and should become the method of first choice for prenatal diagnosis of OCA1.     

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.     

Solar Disinfection of Water for Inactivation of Enteric Viruses and its Enhancement by Riboflavin

Solar disinfection (SODIS) has been described as a cheap and effective method of treating contaminated water to inactivate pathogenic microorganisms. In this study, SODIS was assessed for its efficacy in inactivating three enteric viruses (coxsackievirus B3, coxsackievirus B5 and poliovirus), either on its own or in the presence of riboflavin as a disinfection enhancer. On its own, SODIS produced a reduction of virus infectivity of 4–6 log₁₀ in 6 h. In the presence of riboflavin, inactivation was more rapid in all viruses studied, and with coxsackievirus B5 and poliovirus an extra 1–2 log₁₀ increase in reduction of infectivity was observed after 6 h exposure. This study provides a practical example of low technology methods which could be utilised to provide safe drinking water in various circumstances.     

Pastoral farmland habitat diversity in south-east Ireland

In this study, habitat surveys were undertaken on 50 grass-based farms in SE Ireland and data digitised onto aerial photography. Additional data i.e. stocking rates, and participation (or otherwise) in the Irish Rural Environment Protection Scheme (REPS) were collected and analysed as possible explanatory variables for farm habitat composition.Results indicated that approximately 14.3% of the land area of sampled farms comprised of semi-natural habitat types, a proportion substantially greater than has been reported for many other European countries. The most frequently recorded semi-natural habitats included, field boundaries, scrub, and deciduous and riparian woodlands.Multivariate analysis of farm habitat configuration showed a strong dichotomy between dairy and non-dairy farming systems. Habitats such as intensively managed grassland and built ground were closely associated with dairy-based enterprises. In contrast, the incidence of other habitat types was associated with non-dairy and/or REPS participating enterprises. The ecological quality of field boundaries as assessed by the Field Boundary Evaluation and Grading System (FBEGS) Index was significantly greater on dairy, compared with dry-stock farms.This dichotomy in farm habitat composition is not reflected within current Agri-Environment (AE) policy. Integration of locally important drivers of habitat diversity into the design and implementation of AE policy, is integral to the successful performance of AE schemes.