Transabdominal chorionic villus sampling in the second and third trimesters of pregnancy: Chromosome quality,reporting time,and feto-maternal bleeding

Transabdominal chorionic villus sampling (TA-CVS) was performed in 210 pregnancies from 13 to 38 weeks using a double-needle technique. The sampling success was comparable to first-trimester TA-CVS and the diagnostic success rate was 98.2 per cent for the short-term technique and 99.3 per cent for cultured villi. Two fetuses could not be karyotyped. We found the chromosome quality to be similar to that in the first trimester, comparing the number of G-bands and other chromosome attributes. There were no unintended losses in a group (n = 142) with no sonographic abnormality, except for one death in utero at 38 weeks, 20 weeks after sampling. Chromosomal aberrations were seen in 19 per cent of cases with abnormal sonograms (n = 58). One case of a discordant karyotype was found (false-negative prediction of Down's syndrome by the short-term preparation). There were no cases of fetal demise due to feto-maternal bleeding. It is suggested that double-needle TA-CVS in advanced pregnancies combines the advantages of rapid karyotyping of chromosomes of good quality and low risk for the fetus, and seems to be easier to practise and is probably safer than cordocentesis.     

Prenatal diagnosis of a fetus with terminal deletion of chromosome 1 (q41)

Many authors have suggested that individuals affected by a terminal 1q deletion display a phenotypically definable and recognizable syndrome. In all of the 27 cases reported to date, the breakpoints were at band q42 or distally to it. To our knowledge, we report the first case of a terminal 1q41 deletion. Diagnosis was made prenatally by amniocentesis, following ultrasonographic diagnosis of omphalocele, cerebral ventriculomegaly, and increased nuchal fold thickness in a 19-week female fetus. Multiple facial and extremity features were consistent with the proposed distal 1q deletion syndrome; omphalocele, however, has not been reported previously. The absence of liver herniation into the omphalocele sac in this case supports the previously reported association of this finding with chromosomal anomalies.     

Selective survival of only the healthy fetus following prenatal diagnosis of thalassaemia major in binovular twin gestation

Selective feticide is the procedure of choice when, in twin binovular pregnancy, only one of the fetuses is shown to be affected. As the probabilities for this condition are almost 1:2 when the genetic disease is due to homozygosity for two autosomal recessive genes, the problem is expected to occur frequently among the ever increasing number of couples seeking prenatal diagnosis of thalassaemia and the haemoglobinopathies. The present report is the first case of this condition and the ninth in the overall medical literature.     

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.     

Transcervical CVS sample size: Correlation with placental location,cytogenetic findings,and pregnancy outcome

Data from 2907 transcervical CVS cases performed on singleton pregnancies were reviewed retrospectively and villus sample size was correlated with cytogenetic results, placental location, maternal age at the expected date of confinement (EDC), gestational age at the time of sampling, birth weight, gestational age at the time of delivery, and pregnancy outcome. No correlation was noted between villus sample size and maternal age, gestational age at sampling, gestational age at delivery, birth weight, or pregnancy outcome. An inverse correlation between villus sample size and percentage of abnormal cytogenetic findings was statistically significant (X² = 8·53, p <0·01). The percentage of small samples was greater when the placenta was anterior, lateral, or fundal than when the placenta was posterior.     

Synaptic plasticity

Synaptic plasticity is manifested by long-lasting changes in synaptic potency. Increased potency is of special importance in relation to the neural basis of memory. Even mild repetitive stimulation evokes large and prolonged potentiations of hippocampal synapses, as is revealed by electrical recording either in vivo or in vitro. More importantly there is a matching hypertrophy of the synaptic spines on the dendrites of hippocampal granule cells, as is shown by most convincing electronmicrographs. The increase is to about 40% some 2 h after a mild stimulation (900 impulses) and there was relatively little decline by 23 h. There is brief reference to the metabolic processes that could be involved in this plastic response.     

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.