Prenatal cytogenetic diagnosis after transabdominal chorionic villus sampling in the first trimester

A J Therkelsen, P K Jensen, Jens Michael Hertz, S Smidt-Jensen, N Hahnemann

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Resumé

First trimester prenatal cytogenetic diagnosis was attempted in 350 pregnancies after transabdominal chorionic villus sampling. The cytogenetic investigation was performed using both a short-term method (24 h incubation) and cell culture. Adequate samples were obtained in 99.1 per cent and in all these cases the fetal karyotype was established. A chromosome abnormality was found in 2.0 per cent of cases. A discrepancy between the karyotype obtained after 24 h incubation and the karyotype in cell culture was observed in 2.3 per cent. Maternal cell contamination in the cultures was confirmed in 13 of 181 cases where the 24 h incubation revealed a male karyotype. Studies of culture morphology showed that colonies of convoluted cells may serve as a marker for contamination with maternal cells in culture. For the present, we recommend using a short-term method as well as cell culture for cytogenetic investigation until the problems with karyotype discrepancy and maternal cell contamination have been further clarified.
OriginalsprogEngelsk
TidsskriftPrenatal Diagnosis
Vol/bind8
Udgave nummer1
Sider (fra-til)19-31
Antal sider13
ISSN0197-3851
StatusUdgivet - 1988

Fingeraftryk

Chorionic Villi Sampling
First Pregnancy Trimester
Prenatal Diagnosis
Cytogenetics
Mothers

Citer dette

Therkelsen, A. J., Jensen, P. K., Hertz, J. M., Smidt-Jensen, S., & Hahnemann, N. (1988). Prenatal cytogenetic diagnosis after transabdominal chorionic villus sampling in the first trimester. Prenatal Diagnosis, 8(1), 19-31.
Therkelsen, A J ; Jensen, P K ; Hertz, Jens Michael ; Smidt-Jensen, S ; Hahnemann, N. / Prenatal cytogenetic diagnosis after transabdominal chorionic villus sampling in the first trimester. I: Prenatal Diagnosis. 1988 ; Bind 8, Nr. 1. s. 19-31.
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abstract = "First trimester prenatal cytogenetic diagnosis was attempted in 350 pregnancies after transabdominal chorionic villus sampling. The cytogenetic investigation was performed using both a short-term method (24 h incubation) and cell culture. Adequate samples were obtained in 99.1 per cent and in all these cases the fetal karyotype was established. A chromosome abnormality was found in 2.0 per cent of cases. A discrepancy between the karyotype obtained after 24 h incubation and the karyotype in cell culture was observed in 2.3 per cent. Maternal cell contamination in the cultures was confirmed in 13 of 181 cases where the 24 h incubation revealed a male karyotype. Studies of culture morphology showed that colonies of convoluted cells may serve as a marker for contamination with maternal cells in culture. For the present, we recommend using a short-term method as well as cell culture for cytogenetic investigation until the problems with karyotype discrepancy and maternal cell contamination have been further clarified.",
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Therkelsen, AJ, Jensen, PK, Hertz, JM, Smidt-Jensen, S & Hahnemann, N 1988, 'Prenatal cytogenetic diagnosis after transabdominal chorionic villus sampling in the first trimester', Prenatal Diagnosis, bind 8, nr. 1, s. 19-31.

Prenatal cytogenetic diagnosis after transabdominal chorionic villus sampling in the first trimester. / Therkelsen, A J; Jensen, P K; Hertz, Jens Michael; Smidt-Jensen, S; Hahnemann, N.

I: Prenatal Diagnosis, Bind 8, Nr. 1, 1988, s. 19-31.

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

TY - JOUR

T1 - Prenatal cytogenetic diagnosis after transabdominal chorionic villus sampling in the first trimester

AU - Therkelsen, A J

AU - Jensen, P K

AU - Hertz, Jens Michael

AU - Smidt-Jensen, S

AU - Hahnemann, N

PY - 1988

Y1 - 1988

N2 - First trimester prenatal cytogenetic diagnosis was attempted in 350 pregnancies after transabdominal chorionic villus sampling. The cytogenetic investigation was performed using both a short-term method (24 h incubation) and cell culture. Adequate samples were obtained in 99.1 per cent and in all these cases the fetal karyotype was established. A chromosome abnormality was found in 2.0 per cent of cases. A discrepancy between the karyotype obtained after 24 h incubation and the karyotype in cell culture was observed in 2.3 per cent. Maternal cell contamination in the cultures was confirmed in 13 of 181 cases where the 24 h incubation revealed a male karyotype. Studies of culture morphology showed that colonies of convoluted cells may serve as a marker for contamination with maternal cells in culture. For the present, we recommend using a short-term method as well as cell culture for cytogenetic investigation until the problems with karyotype discrepancy and maternal cell contamination have been further clarified.

AB - First trimester prenatal cytogenetic diagnosis was attempted in 350 pregnancies after transabdominal chorionic villus sampling. The cytogenetic investigation was performed using both a short-term method (24 h incubation) and cell culture. Adequate samples were obtained in 99.1 per cent and in all these cases the fetal karyotype was established. A chromosome abnormality was found in 2.0 per cent of cases. A discrepancy between the karyotype obtained after 24 h incubation and the karyotype in cell culture was observed in 2.3 per cent. Maternal cell contamination in the cultures was confirmed in 13 of 181 cases where the 24 h incubation revealed a male karyotype. Studies of culture morphology showed that colonies of convoluted cells may serve as a marker for contamination with maternal cells in culture. For the present, we recommend using a short-term method as well as cell culture for cytogenetic investigation until the problems with karyotype discrepancy and maternal cell contamination have been further clarified.

KW - Biopsy, Needle

KW - Cells, Cultured

KW - Chorionic Villi

KW - Chromosome Aberrations

KW - Chromosome Disorders

KW - Female

KW - Fetal Diseases

KW - Humans

KW - Karyotyping

KW - Pregnancy

KW - Pregnancy Outcome

KW - Pregnancy Trimester, First

KW - Prenatal Diagnosis

M3 - Journal article

VL - 8

SP - 19

EP - 31

JO - Prenatal Diagnosis

JF - Prenatal Diagnosis

SN - 0197-3851

IS - 1

ER -