Fetal blood chromosome analysis: some new indications for prenatal karyotyping

Gosden, Christine; Rrodeck, C. H.; Nicolaides, Kypros H.; Campbell, Stuart; Eason, Patricia; Sharp, J. C.

doi:10.1111/j.1471-0528.1985.tb03070.x

Cited by 31 publications

(14 citation statements)

References 10 publications

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“…In literature series, the incidence of aneuploidy in fetuses with detectable ultrasound abnormalities ranges from 16.8 to 45% [Gosden et al, 1985;Marchese et al, 1985;Nicholaides et al, 1986;Palmer et al, 1987;Williamson et al, 1987;Wladimiroff et al, 1988;Hentemann et al, 1989;Rizzo et al, 19901. Similarly, the incidence of chromosome abnormalities in late spontaneous abortions is estimated at 6.6-11.7% [Warburton et al, 1980;Creasy et al, 19761.…”

Section: Discussionmentioning

confidence: 97%

Fetal ultrasound abnormalities: Correlation with fetal karyotype, autopsy findings, and postnatal outcome—five‐year prospective study

1992

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A 5-year prospective prenatal study in 151 pregnancies with 152 malformed fetuses detected by ultrasound was evaluated cytogenetically. Thirty-five fetuses (23%) had abnormal karyotypes. Specific anatomical fetal malformations identified by ultrasound increase the risk for fetal chromosome abnormalities. Risks of abnormal chromosomes in the fetus are present with both single and multiple anomalies including amniotic fluid volume although the risk is increased with specific anatomical systems and multiple malformations. An abnormal fetal karyotype was present in 17% with a single anatomical abnormality and 30% when two or more anatomical systems were involved. Fetal hydrops, duodenal atresia, and omphalocele were the most specific single ultrasound anomalies; fetal hydrops, IUGR, holoprosencephaly, congenital heart disease, diaphragmatic hernia, duodenal atresia, and omphalocele were the most specific multiple anomalies with abnormal amniotic fluid volume. Termination of pregnancy occurred in 32/58 patients diagnosed prior to the 20th week of pregnancy with most (31/32) having a chromosomal anomaly or severe fetal anomaly. Fetuses terminated after the 20th week had chromosomal (7/18) or lethal fetal anomalies (11/18). The most common aneuploidies were trisomy 21, trisomy 18, and 45,X. The decision to terminate the pregnancy was based in most cases on the fetal ultrasound findings. Correlation of ultrasound and clinical findings is important for accurate genetic counselling.

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Section: Discussionmentioning

confidence: 97%

Fetal ultrasound abnormalities: Correlation with fetal karyotype, autopsy findings, and postnatal outcome—five‐year prospective study

1992

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“…The cytogenetic findings must be interpreted in light of the clinical setting. Many authors have suggested that periumbilical blood sampling can be used to clarify mosaic results from amniocentesis or CVS (Watson et al, 1984;Gosden et al, 1985;Vekemans et al, 1981). Although unusual, our case may serve as a reminder that percutaneous umbilical blood sampling may not always be appropriate as a definitive follow-up to questions raised by abnormal amniotic fluid chromosome results.…”

Section: Discussionmentioning

confidence: 99%

An infant with trisomy 9 mosaicism presenting as a complete trisomy 9 by amniocentesis

et al. 1992

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We present a case in which amniocentesis performed at 33 weeks' gestation because of symmetrical intrauterine growth retardation and decreased amniotic fluid volume led to the prenatal diagnosis of a fetus with a karyotype of 47,XX,+9,t(1;20)(q42;p11.2) pat, i.e., with an extra chromosome 9 and a balanced translocation between chromosomes 1 and 20. At delivery, the baby showed clinical features of trisomy 9, yet chromosome analysis of the cord blood revealed no trisomy 9 cells, a finding confirmed by neonatal blood karyotyping. The balanced translocation was present in all cells. A skin biopsy confirmed trisomy 9 mosaicism with 10 per cent trisomy 9 cells. The baby died at 6 weeks and an autopsy was obtained. Chromosome analysis of different organs demonstrated different frequencies of the mosaicism of trisomy 9. The possible underlying mechanism for the discrepancy between the karyotype results by amniocentesis and those of other tissues is discussed.

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“…Fetal blood sampling or cordocentesis (Cordesius et al, 1980;Daffos et al, 1983Daffos et al, , 1985Gosden et al, 1985;Nicolaides et al, 1986b;Rizzo et al, 1990) leads to results after 2-4 days. However, umbilical cord puncture combined with a low enough risk of abortion (Daffos et al, 1983) is restricted to only a few centres, which often causes scheduling delays.…”

Section: Introductionmentioning

confidence: 99%

Rapid karyotyping in prenatal diagnosis: A comparative study of the ‘pipette method’ and the ‘in situ’ technique for chromosome harvesting

et al. 1993

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Rapid karyotyping in the second and third trimesters has important implications for the management of pregnancies at risk. From September 1985 to March 1992, 735 amniotic fluid samples sent to our laboratory for rapid karyotyping from 64 different diagnostic centres of the Federal Republic of Germany were included in a comparative study on harvesting for chromosome analysis using the 'pipette method' or the 'in situ' technique. The average time between preparation of the amniotic fluid and verbal notification of the analysed karyotype was 5.41 days. The 'pipette method' needed on average 4.65 days, and the 'in situ' technique 5.97 days. In comparison with other more invasive techniques available for rapid karyotyping such as cordocentesis and placental biopsy, amniocentesis and subsequent chromosome harvesting using the 'pipette method' and/or the 'in situ' technique proved very useful and efficient. The overall incidence of chromosome aberrations was 15.3 per cent. The high rate of structural chromosome aberrations and uncommon aneuploidies found in our investigation (12 per cent) indicates that for rapid karyotyping in the second and third trimesters, conventional cytogenetic techniques cannot be replaced by faster techniques based on fluorescent in situ hybridization on interphase cells in the near future.

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Fetal blood chromosome analysis: some new indications for prenatal karyotyping

Cited by 31 publications

References 10 publications

Fetal ultrasound abnormalities: Correlation with fetal karyotype, autopsy findings, and postnatal outcome—five‐year prospective study

Fetal ultrasound abnormalities: Correlation with fetal karyotype, autopsy findings, and postnatal outcome—five‐year prospective study

An infant with trisomy 9 mosaicism presenting as a complete trisomy 9 by amniocentesis

Rapid karyotyping in prenatal diagnosis: A comparative study of the ‘pipette method’ and the ‘in situ’ technique for chromosome harvesting

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