An improved method of direct chromosome preparation from chorionic villus and high resolution banding technique

Xiao, Sheng; Liu, Quan-Zhang; Wang, Rubin; Zhang, Maoying; Li, Pu

doi:10.1002/pd.1970090808

Cited by 4 publications

(2 citation statements)

References 11 publications

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“…Besides these advantages, reservations about the predictive value of cytogenetic diagnoses after CVS accumulate: compared with cultured amniotic fluid cells, the rapid chromosome analysis of (semi-)directly prepared cytotrophoblast cells is associated with a higher rate of problematic results, e.g., poor quality of preparation (Blakemore et al, 1984;Heaton et al, 1984;Yue et al, 1986;Metaxotou et al, 1987;Terzoli et al, 1987;Smidt-Jensen et al, 1989;Xiao et al, 1989), mosaicism (Vejerslev and Mikkelsen, 1989), maternal cell contamination (Simoni et al, 1986;Cheung et al, 1987;Roberts et al, 1988), and false-positive Smidt-Jensen and Lind, 1987;Chudoba et al, 1989;Eiben et al, 1989;Leschot et al, 1990) and false-negative (Eichenbaum et al, 1986;Linton and Lilford, 1986;Martin et al, 1986;Eiben et al, 1988;Bartels et al, 1989;Chudoba et al, 1989;Leschot et al, 1988;Lilford et al, 1991;Wirtz et al, 1988Wirtz et al, , 1993 pathological cytogenetic diagnoses. Hence, an increasing number of investigators, namely those who have had their own experience of false-negative findings, propagate analysing cells of the mesodermal core from long-term cultures (LTC) as obligatory (Linton and Lilford, 1986;Martin et al, 1986;Smidt-Jensen and Lind, 1987;Leschot et al, 1988;Bartels et al, 1989;Nisani et al, 1989;Vejerslev and Mikkelsen, 1989;Ledbetter et al, 1992), a procedure which reduces substantially the advantage of a rapid diagnosis after CVS.…”

Section: Introductionmentioning

confidence: 99%

Cytogenetic diagnoses after chorionic villus sampling are less reliable in very‐high‐ or very‐low‐risk pregnancies

et al. 1993

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An increasing number of cytogenetic prenatal diagnoses are performed on chorionic villus samplings. The accuracy of this method is influenced by chromosomal mosaicism, mostly confined to direct preparation methods. Especially those investigators who have experienced false-negative and false-positive findings propagate the combined use of direct and culture methods. Yet large collaborative studies have shown that in approximately two-thirds of diagnostic cases only one procedure is applied. Moreover, the accuracy of a cytogenetic investigation depends not only on the ontogenetic origin of the tissues investigated, but also on interacting factors such as the 'a priori risk' and the 'predictive value of a cytogenetic finding'. On this basis a differentiated prenatal diagnostic procedure is discussed, including either sole short-term culture (STC), combined STC and long-term culture (LTC), primary amniocentesis (AC), or primary percutaneous umbilical blood sampling (PUBS). The predictive value of the cytogenetic diagnosis from CVS varies significantly dependent on the a priori risk of a chromosome aberration and, in the case of an abnormal karyotype, on the specific chromosome involved. A non-mosaic and 'non-lethal' trisomy detected in STC is highly representative of the embryo/fetus, but there are exceptions of limited predictive value, e.g., trisomy 18. Guided by the strategy of an optional follow-up by LTC, AC, or PUBS in 1317 successive CV samplings, we are not aware of a false-negative diagnosis, but probably had one false-positive diagnosis: 47,XXY after STC; 46,XY after LTC. When referring to the rate of fetuses with an unbalanced karyotype expected in the different indication groups, a relative increase of false-positive findings in the very-low-risk group (maternal age < or = 35 years of age) and of false-negative findings in the very-high-risk group (abnormal ultrasonographic findings) of pregnant women when only performing CVS becomes obvious. Because of this dilemma, AC or--especially in the latter group--PUBS might be primarily offered to these indication groups instead of CVS.

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Section: Introductionmentioning

confidence: 99%

Cytogenetic diagnoses after chorionic villus sampling are less reliable in very‐high‐ or very‐low‐risk pregnancies

et al. 1993

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“…The introduction of chorionic villus sampling (CVS) (Simoni et al, 1983) carried out between the ninth and 12th weeks seemed to solve this problem. More than 78 000 CVS have been performed world-wide (Jackson,199 l), yet this approach is hampered by inferior chromosome quality (Blakemoreet al, 1984;Heatonet al, 1984;Yuetal., 1986;Metaxotouetal., 1987;Terzoli et al, 1987;Smidt-Jensen et al, 1989;Xiao et al, 1989;Kennerknecht et al, 1992a), and, what is more important, by a high frequency of discrepant cytogenetic findings between placental and fetal tissues (1-2 per cent; Vejerslev and Mikkelsen, 1989). As a consequence, an increasing number of centres attempted to perform amniocentesis at an earlier age of pregnancy (Hanson et al, 1987(Hanson et al, , 1990Benacerraf et al, 1988;Johnson and Godmilow, 1988;Evans et al, 1988;Rooney et al, 1989;Elejalde et al, 1990;Klapp et al, 1990;Lindner et al, 1990; Nevin et al, Figure 1.…”

Section: Introductionmentioning

confidence: 99%

Evaluation of amniotic fluid cell filtration: An experimental approach to early amniocentesis

et al. 1993

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Prior to a prospective application of amniotic fluid (AF) cell filtration to early amniocentesis, we tested the technique on a surplus from mid-trimester samples. By using the same sample size of 5 ml in experiments with a filter and in routine diagnostic procedures (control), we evaluated an optimal filter system. The prolonged culture time of filtered cells and the reduced number of clones are most probably due to mechanical stress (filtration pressure), whereas loss of the cells by adhesion to the filter system, and an AF-free culture medium (growth factors) are suggested to be less important. The AF cells are very sensitive to mechanical stress. Slow filtration (< or = ml AF/min) through filters with a high porosity and the largest possible pore size should be preferred. A mixed cellulose ester filter membrane with a pore size of 5.0 microns proved to be the most efficient, allowing harvest of the filtered cells after only a slight prolongation of the culture time (+2.4 days) compared with unfiltered aliquots. A filter set with a bypass connected by three-way taps allows cell filtration during either aspiration or reinjection of the AF. Cell filtration after amniocentesis and consecutive reverse flushing of the membrane with the appropriate amount of culture medium proved to be the best with regard to easy handling and reducing the risk of bacterial contamination.

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First trimester amniocentesis between the seventh and 13th weeks: Evaluation of the earliest possible genetic diagnosis

Kennerknecht¹,

Baur-Aubele²,

Grab

et al. 1992

Prenatal Diagnosis

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Amniocentesis performed at the 12th week and later gives reliable results. The procedure can be performed using regimens developed for mid-trimester amniotic fluid (AF) cells. Extension to the 10th-11th week is, in principle, feasible. However, the high cytogenetic failure rate is a difficulty and despite a high clone count, the culture time is prolonged. The problem of the relatively high loss of AF could be overcome by cell filtration techniques and replacement of the fluid. Because of the short turnover rate of the AF, this may be unnecessary or replacement with an isotonic solution may be sufficient. (Pseudo)mosaicism appears to occur more frequently in early than in late amniocentesis. As yet, data are too sparse to allow a comparison with chorionic villus sampling. There are no reliable follow-up data from which to estimate the abortion rate and the number of embryonic malformations.

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An improved method of direct chromosome preparation from chorionic villus and high resolution banding technique

Cited by 4 publications

References 11 publications

Cytogenetic diagnoses after chorionic villus sampling are less reliable in very‐high‐ or very‐low‐risk pregnancies

Cytogenetic diagnoses after chorionic villus sampling are less reliable in very‐high‐ or very‐low‐risk pregnancies

Evaluation of amniotic fluid cell filtration: An experimental approach to early amniocentesis

First trimester amniocentesis between the seventh and 13th weeks: Evaluation of the earliest possible genetic diagnosis

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