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Biomedical subjects

A M Lind

Publications and source records attributed to A M Lind.

10 recordsLinked to original sources
PubMed1993

[Early amniocentesis].

Genetic amniocentesis performed at 7-14 weeks of gestation was studied in a series of 138 patients of whom 50 wanted termination of pregnancy (< or = 12 weeks). The material for analysis consisted of 132 samples due to two sampling failures and four samples being handled incorrectly. Forty-eight samples (36 percent) were taken at 7-12 weeks of gestation, mainly transvaginally (36/48:75 percent). The success rate of culture and karyotyping increased with the duration of pregnancy, but was only satisfactory from week 11 onwards. The time until harvest was then 14-15 days. The transvaginal approach is easy to perform and was accepted by the women, but we experienced bacterial or fungal overgrowth in 17 percent of these samples, whereas no infection occurred in the samples taken transabdominally (n = 96). We conclude that genetic amniocentesis is feasible from week 11, but further studies concerning side effects, especially focusing on the procedure-related abortion risk, should be carried out before early amniocentesis is routinely applied.

Adolescent↗
PubMed1993

Cytogenetic analysis of 2928 CVS samples and 1075 amniocenteses from randomized studies.

We report cytogenetic results from a randomized Danish chorionic villus sampling (CVS) and amniocentesis (AC) study including 2928 placental and 1075 amniotic fluid specimens processed in the same laboratory. The results are presented in groups comparing CVS with amniocentesis and transabdominal (TA) CVS with transcervical (TC) CVS as randomized. More abnormalities and more ambiguous diagnostic problems were found in placental tissues than in amniotic cells. There were no diagnostic errors and no incorrect sex predictions. Mosaicism was detected in 1 per cent of all cases of CVS (discordancies included). When confirmation studies were done, 90 per cent were found to be confined to the placenta. Eight cases (0.7 per cent) of mosaicism/pseudomosaicism were seen in amniotic fluid specimens, and two cases of five with confirmation studies were confirmed in the fetus. The rate of mosaicism/pseudomosaicism in CVS and AC specimens differed (p < 0.05). The rate of pseudomosaicism in cultures of villi and amniotic fluid cells was 0.5 and 0.6 per cent, respectively. Single-cell aneuploidy was observed in 1.8 per cent of villi and 1.4 per cent of amniotic fluid cell specimens. Maternal cell contamination (MCC) was seen more often after TC sampling (4.5 per cent) compared with TA sampling (1.5 per cent), but posed no problems in interpretation. Compared with the processing of cultured specimens, the short-term method of preparation of villi in our laboratory doubled the technicians' workload. For practical and economic reasons we have ceased the routine use of short-term preparations.

Amniocentesis↗
PubMed1993

Rapid detection of numerical aberrations of chromosomes 13, 18 and 21 in chorionic mesenchymal cells.

We have devised and evaluated a rapid screening method for the detection of numerical aberrations of chromosomes 13, 18 and 21 in chorionic villus cells. We used non-radioactive in situ hybridization (ISH) with three chromosome-specific probes on overnight-attached mesenchymal cells from chorionic villi. A blind study was performed of 47 karyotypically normal samples, one triploid sample, two samples trisomic for chromosome 21, and two samples from a fetus with putative mosaicism (46/47, +21). All samples were hybridized with the chromosome 18- and 21-specific probes. Thirty samples were additionally hybridized with the chromosome 13-specific probe. The test could be completed within 3-4 days of sampling. In samples disomic with respect to the probed chromosomes, an average of 2 per cent (range 0-9 per cent) had three hybridization signals. By contrast, in the samples trisomic for the probed chromosome(s), 57 per cent (chromosome 13), 51 per cent (chromosome 18), and an average of 74 per cent (55-86 per cent) (chromosome 21) of the nuclei exhibited three signals. In the putative mosaic samples, the number of nuclei with three chromosome 21-specific signals ranged from 41 to 69 per cent. We conclude that this technique rapidly and clearly distinguishes between normal and trisomic/triploid samples, and consequently may be of use in future prenatal diagnosis.

Chorionic Villi↗
PubMed1993

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 cases 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.

Chorionic Villi Sampling↗
PubMed1992

Genetic amniocentesis at 7-14 weeks of gestation.

Genetic amniocentesis performed at 7-14 weeks of gestation was studied in a series of 138 patients of whom 50 wanted termination of pregnancy (less than or equal to 12 weeks). The material for analysis consisted of 132 samples due to two sampling failures and four samples being handled incorrectly. Forty-eight samples (36 per cent) were taken at 7-12 weeks of gestation, mainly transvaginally (36/48: 75 per cent). The success rate of culture and karyotyping increased with the duration of pregnancy, but was only satisfactory from week 11 onwards. The time until harvest was then 14-15 days. The transvaginal approach is easy to perform and was accepted by the women, but we experienced bacterial or fungal overgrowth in 17 per cent of these samples, whereas no infection occurred in the samples taken transabdominally (n = 96). We conclude that genetic amniocentesis is feasible from week 11, but further studies concerning side effects, especially focusing on the procedure-related abortion risk, should be carried out before early amniocentesis is routinely applied.

Abdomen↗
PubMed1989

Chorionic villus culture for prenatal diagnosis of chromosome defects: reduction of the long-term cultivation time.

We report in detail two series of chorionic villus cultivation for prenatal chromosomal diagnosis. Chorionic villi were sampled from both first- and second-trimester pregnancies. One hundred cultures were treated with trypsin-EDTA for 2 h and collagenase overnight, (method A) and 100 were treated with trypsin-EDTA for 1 h and collagenase for 2 h (method B). Using short-term enzymatic digestion, the cultivation time was reduced from 14 days to 6 days. Sufficient amounts of metaphases of good quality were present in 93 per cent of primary cultures harvested in situ, whereas enough metaphases of sufficiently good quality were in most cases present only after subcultivation of the cultures using method A. The decrease in cultivation time obtained is probably due to a higher yield of viable cells in monocellular suspension, an increased attachment efficiency, and a more rapid attachment of single cells (within 24 h).

Chorionic Villi↗
PubMed1987

A case of first trimester chromosomal mosaicism confined to the cultivation of the gestational products.

The advantages of the emergence and development of chorionic villi sampling (CVS) for early prenatal diagnosis are evident, but there are a host of new diagnostic problems caused by the use of extraembryonic tissues. We report a case in which 45X/46XY mosaicism was diagnosed by cultivation of chorionic villi and fetal cells. Direct chromosomal preparations of chorionic villi failed to diagnose the abnormality.

Adult↗
PubMed1976

Visual classification of banded human chromosomes. I. Karyotyping compared with classification of isolated chromosomes.

Visual karyotyping and visual classification of isolated chromosomes was carried out by seven investigators on 22 trypsin banded metaphases of average quality. The karyotyping experiment resulted in an average error rate of 0-1% (zero-0-4%) and the classification of isolated chromosomes resulted in an error rate of 3% (2-5%). The B and F group chromosomes were found to be most difficult to classify when isolated, while no errors were made of the no. 1 and the X chromosome. Large differences were seen in the resulting error pattern for the individual investigators both with regard to their total error rate and also the chromosome types which they most frequently misclassified. Based upon these error patterns it is suggested that more than 95% of the chromosomes in an average quality material contain features upon which a reliable visual classification can be made. Thus there may be a potential possibility that these chromosomes may be classified by computer on the basis of these features. The fact that visual karyotyping is much more reliable than visual classification of isolated chromosomes indicated that computer classification of chromosomes should include programming capable of making appropriate comparison between the chromosomes in the metaphase and at the same time take into account the expected presence of 23 chromosome pairs for normal cells. This would simulate the human performance of visual karyotyping and make a classification possible of at least some of the remaining 5% difficult chromosomes.

Chromosomes↗
PubMedDate not supplied

A culture vessel for amniotic fluid cells allowing faster preparation of chromosome slides.

A new culture vessel for amniotic fluid culture is presented (flaskette). It consists of a microscope slide, on top of which a culture chamber is mounted. Amniotic fluid cell cultures using in situ technique in the flaskette were compared to subcultured samples in ordinary (Falcon) tissue culture bottles. Working time was reduced by using this new culture vessel because of a very simple harvest procedure, allowing simultaneous harvest of 15 samples. The interval between amniocentesis and harvest was shorter for the in situ technique than for the subcultivation technique. The frequency of aneuploidy in individual metaphases was higher with the subcultivation technique, while there was no difference in the frequency of structural anomalies.

Amniotic Fluid↗