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.     

Factors associated with multiple-pass procedures during chorionic villus sampling: A video analysis

Multiple placental passes during chorionic villus sampling (CVS) increase the risk of fetal loss; however, specific factors that predispose to repeat aspiration have not been delineated. To identify anatomic and technical variables associated with multiple-pass procedures, a detailed review of 205 videotaped CVS procedures (single pass = 163; multiple pass = 42) was performed, blinded to pregnancy outcome. The route of sampling did not influence the need for multiple aspiration attempts (transabdominal—30/ 135; transcervical—12/70), nor was placental location alone discriminatory. However, the combination of a posterior placenta and uterine retroversion was observed more frequently in the multiple-pass cohort (8/42 vs. 9/163; p<0.05). In transabdominal cases, suboptimal needle placement (e.g., perpendicular to the placental long axis) was more common in the initial aspiration of a multiple-pass procedure (21/30 vs. 38/105;p<0.01), while limited penetration of the catheter tip (e.g., just inside the placental edge) characterized a majority of multiple-pass cases in the transcervical subset (7/12 vs. 3/58; p<0.0001). A case-control cohort was constructed to evaluate the impact of these technical variables on sampling efficacy, independent of the influence of uterine position and placental site. In that analysis, suboptimal location and/or orientation of the sampling device remained characteristic of multiple-pass cases. We conclude that further reduction in the frequency of multiple-pass procedures might be achieved by consistent placement of the device tip in the central placental mass. Unlike amniocentesis, where any point of amnion entry will suffice, this technical nuance should be emphasized with CVS to maximize the single-pass success rate.     

Prevention of debris flow disasters on Chengdu-Kunming Railway

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Transboundary air pollution balance in the new integrated European environment

Ten out of the 12 new EU members, used to belong to the so-called “former eastern block”, with a post WWII environmental policy radically different from the tendencies followed in Western Europe. The lack of conservation regulations has resulted in a rather harmful industrialization, regarding natural resources and environmental quality. While air pollution transfer is a phenomenon of transboundary level, there is a particular interest in examining the contribution of the new EU member states to the environmental pressure faced by the older member states and vice versa. The current study utilises the official data for almost 20 years published by the European Monitoring and Evaluation Program concerning the transboundary transfer of NO_x and SO₂ in order to analyse the situation and discuss the present and future environmental policy regarding air pollution.     

First-trimester prenatal diagnosis in quintuplets: A practical approach using step-by-step embryo reduction

A multiple pregnancy of high rank may occur in a couple at risk for a Mendelian disorder. Prenatal diagnosis is hampered by the difficulty of (1) obtaining chorionic villi from each zygote arid (2) unequivocally relating each sample to the corresponding embryo. The calculation of the genetic risk according to the number of zygotes led us to propose a diagnostic strategy based on embryo reduction, a technique initially designed to improve the perinatal outcome of multiple pregnancies with normal embryos. We report a case in which this approach allowed rational use of first-trimester chorionic villus sampling in a quintuplet pregnancy at risk for non-ketotic hyperglycinaemia, resulting in the selective birth of unaffected twins.     

Gelatin embedding and diagnostic ultrasound in the examination of the fetal and neonatal brain

We describe a new method for the post-mortem examination of the fetal central nervous system. The brain is immobilized in gelatin prior to ultrasonic examination. Correlation with prenatal ultrasound is excellent and subsequent pathological examination is enhanced and facilitated.     

Prenatal diagnosis of Chediak-Higashi syndrome

We report the first prenatal diagnosis of an affected fetus with Chediak-Higashi syndrome (CHS). Diagnosis was accomplished via fetal blood sampling at 17 menstrual weeks and was confirmed after birth. Retrospective measurement of the largest acid phosphatase-positive lysosomes in cultured amniotic fluid cells and chorionic villus cells showed that in CHS these lysosomes are significantly larger than those in normal cells. This method may be used for prenatal diagnosis of CHS by amniocentesis and chorionic villus sampling (CVS).     

Erythroid-specific antibodies enhance detection of fetal nucleated erythrocytes in maternal blood

Fetal nucleated erythrocytes (NRBC) in maternal blood are a non-invasive source of fetal DNA for prenatal genetic screening. We compared the effectiveness of three monoclonal antibodies for the separation of fetal cells from maternal blood by flow sorting. Mononuclear blood cells from 49 healthy pregnant women were incubated with antibody to CD 71, CD 36, and/or glycophorin A (GPA), employed singly or in combination with each other. These monoclonal antibodies recognize surface antigens on haematopoietic precursor cells. Successful isolation of fetal cells was defined as detection of Y chromosomal sequences in maternal blood from women carrying male fetuses, with absence of Y sequences when female fetuses were carried. Thus, gender prediction accuracy was used as a measure of fetal cell separation. Using anti-CD 71 to isolate fetal cells, gender prediction was 57 per cent correct; with anti-CD 36, it was 88 per cent correct. Anti-GPA, an erythrocyte-specific antigen, used alone or in combination with anti-CD 71 or 36, improved gender prediction to 100 per cent. We conclude that antibody to GPA improves the retrieval of fetal NRBC from maternal blood, permitting genetic analysis by the polymerase chain reaction.     

Prenatal diagnosis of isolated bilateral microphthalmia with confirmation by evaluation of products of conception obtained by dilation and evacuation

We describe the prenatal diagnosis of isolated bilateral fetal microphthalmia in a woman at increased risk of having a fetus with microphthalmia. Ultrasound examinations at 161 and 19-5 weeks' gestation demonstrated bilateral fetal microphthalmia with no other associated structural defects. The patient elected to terminate her pregnancy at 19.5 weeks. Pathological evaluation of the products of conception obtained by dilation and evacuation confirmed the prenatal diagnosis of isolated bilateral fetal microphthalmia.