Prenatal diagnosis of trisomy 9: cytogenetic, FISH, and DNA studies

Berg, Caroline van den; Ramlakhan, S.; Opstal, Diane Van; Brandenburg, Helen; Halley, Dicky; Los, Frans J.

doi:10.1002/(sici)1097-0223(199710)17:10<933::aid-pd179>3.0.co;2-0

Cited by 22 publications

(6 citation statements)

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“…FISH on interphase cells of STC-villi preparations displaying aneuploidy or polyploidy mosaicism was used for differentiation of coincidental local mitotic division errors from mosaicism and was performed as described before (Van Opstal et al, 1995;. In the case of confirmation of the mosaicism in STC-villi, FISH was performed with the same probe(s) on uncultured amniotic fluid cells for the differentiation between CPM and generalized mosaicism (Van den Berg et al, 1997;Van Opstal et al, 1998). Interpretation of signal distributions has been described previously .…”

Section: Methodsmentioning

confidence: 99%

“…First-and second-trimester ultrasound investigations were performed in our department as described previously (Wladimiroff et al, 1995;Cha'ban et al, 1996). In some cases with (mosaic) unusual trisomy, DNA studies were performed for the investigation of the parental origin of the supernumerary chromosome and/or of uniparental disomy (UPD) ( Van den Berg et al, 1997;Van Opstal et al, 1998).…”

Section: Methodsmentioning

confidence: 99%

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Abnormal karyotypes in semi-direct chorionic villus preparations of women with different cytogenetic risks

et al. 1998

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Among 3499 cytogenetically investigated semi‐direct chorionic villus samples, 219 (6·3 per cent) abnormal karyotypes were encountered. The karyotypes were considered certainly abnormal (generalized abnormal with high probability) in 109 cases (3·1 per cent), and in 110 cases (3·1 per cent) uncertainly abnormal (potentially confined to the placenta), requiring further investigation. Of these 110 uncertain abnormalities, the cytogenetic result turned out to be finally abnormal representing generalized abnormality in 36 cases (32·7 per cent), finally normal representing confined placental mosaicism (CPM) in 69 cases (62·7 per cent), and remained undetermined in 5 instances (4·5 per cent). The rate of the numbers of certainly abnormal and all (certainly+uncertainly) abnormal results, the certainty rate, and that of generalized abnormalities and all abnormalities (generalized abnormalities+CPM cases), the predictive value, are strongly correlated with the cytogenetic risk. Therefore, we advise chorionic villus sampling for cytogenetic investigation only in women with a cytogenetic risk equal to or exceeding that of a 40‐year‐old pregnant woman. Because of the high rate of prenatal follow‐up investigations after the finding of uncertain results in semi‐direct villi, semi‐direct and cultured villi should be karyotyped simultaneously. Copyright © 1998 John Wiley & Sons, Ltd.

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Section: Methodsmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

Abnormal karyotypes in semi-direct chorionic villus preparations of women with different cytogenetic risks

et al. 1998

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“…In our three cases of UPD, prenatal cytogenetic investigations in chorionic villi revealed only one case with CPM and two cases with completely normal karyotypes, suggesting that a normal karyotype in chorionic villi might not be an exception in UPD. Prenatal cases of generalized mosaicism of various trisomies with UPD in the disomic cell lines (Harrison et al, 1995;Christian et al, 1996;Van den Berg et al, 1997) as well as postnatally established mosaic cases of autosomal and sex chromosomal aneuploidy in which the mosaicism is due to loss of one of the chromosomes (Niikawa and Kajii, 1984;Robinson et al, 1995) further suggest that trisomic zygote rescue might not always be a successful event. The very high rate of mosaic aneuploidy in the two to eight-cell stage human embryo (Munné et al, 1994;Almeida and Bolton, 1996;Kligman et al, 1996) indicates that trisomic zygote rescue might be a rather common phenomenon.…”

Section: Discussionmentioning

confidence: 99%

“…The probes CW9D and CW23, located at 16p13.3 were used for the investigation of deletions in the tuberous sclerosis complex (TSC)2 region (European Chromosome 16 Tuberous Sclerosis Consortium, 1993). Probe labelling, detection and visualization were carried out as described before Van den Berg et al, 1997). 200 non-overlapping and nonclumbed interphase nuclei of each sample were investigated.…”

Section: Methodsmentioning

confidence: 99%

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Uniparental disomy with and without confined placental mosaicism: a model for trisomic zygote rescue

et al. 1998

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Amniocentesis or chorionic villus sampling in multiple gestations? Experience with 500 cases

et al. 1999

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500 women with multiple pregnancies underwent amniocentesis or chorionic villus (CV) sampling at our department between January 1988 and July 1997. The aim of this retrospective study was to evaluate the laboratory aspects and the consequences of discordant results in these pregnancies in relation to the method of sampling. Uncertain results in one or both samples, requiring further investigation were more frequent in CV samples (eight times in 163 paired samples, 5 per cent) than in amniotic fluid (AF) samples (once in 298 paired samples, 0·3 per cent). Sampling one fetus twice (erroneous sampling) was seen only once among 163 pregnancies with two CV samples in our study. Cross contamination due to mixed sampling was discovered in two of seven pregnancies that underwent DNA diagnosis in CV and might be a rather regular occuring phenomenon. In none of the 500 pregnancies mixed sampling caused diagnostic dilemmas. A third sampling problem, maternal cell contamination caused a diagnostic problem once among the AF samples. Selective fetal reduction appeared safer after CV sampling than after amniocentesis. Subsequently, CV sampling instead of amniocentesis has become the method of choice for prenatal diagnosis in multiple pregnancies in our department. Copyright © 1999 John Wiley & Sons, Ltd.

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Prenatal diagnosis of trisomy 9: cytogenetic, FISH, and DNA studies

Cited by 22 publications

References 23 publications

Abnormal karyotypes in semi-direct chorionic villus preparations of women with different cytogenetic risks

Abnormal karyotypes in semi-direct chorionic villus preparations of women with different cytogenetic risks

Uniparental disomy with and without confined placental mosaicism: a model for trisomic zygote rescue

Amniocentesis or chorionic villus sampling in multiple gestations? Experience with 500 cases

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