A normal 46,XX infant with a 46,XX/ 69.XXY placenta: A major contribution to the placenta is from a resorbed twin

Callen, David F.; Fernandez, H.; Hull, Yvonne; Svigos, John; Chambers, Helen; Sutherland, G.

doi:10.1002/pd.1970110705

Cited by 15 publications

(3 citation statements)

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“…( 3 ) 'Vanishing twin'-One very specific scenario which produces some instances of apparent CPM is the analysis of cells from residual villi derived from an aneuploid twin that failed to develop, the 'vanishing twin'. This has been well documented for trisomy 16 (Tharapel et al, 1989) and triploidy (Callen et al, 1991), with both pregnancies having normal outcomes. However, the lack of evidence for large numbers of either errors in fetal sex prediction using CVS or sex mismatch of the abnormal cell line in cases of CPM would imply that contributions from vanishing twins constitute only a small but nevertheless very important proportion of problematic lindings.…”

Section: Discussionmentioning

confidence: 65%

Confined placental mosaicism, IUGR, and adverse pregnancy outcome: A controlled retrospective U.K. collaborative survey

1994

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In a retrospective collaborative study involving 21 U.K. laboratories and 11,775 CVS prenatal diagnostic procedures, a total of 73 cases of confined placental mosaicism (CPM) were identified among the 8004 first-trimester referrals because of advanced maternal age, a previous child with a numerical chromosome abnormality, or a family history of the same. Data were collected on subsequent cytogenetic follow-up and pregnancy outcome for each case and a referral matched control. Comparison with the control population failed to demonstrate a marked increase in adverse pregnancy outcome in the CPM group, but a significant increase in both low and high birth weight infants was recorded. In a parallel study, 7 out of 108 cases, referred for prenatal diagnosis because of ultrasound detection of isolated intrauterine growth retardation (IUGR) in the second or third trimester, were shown to have a chromosome abnormality restricted to the extraembryonic tissues. These included cases of CPM involving trisomy 9 and del(13)(q13), neither of which has previously been reported in association with IUGR.

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Section: Discussionmentioning

confidence: 65%

Confined placental mosaicism, IUGR, and adverse pregnancy outcome: A controlled retrospective U.K. collaborative survey

1994

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“…The three cases where direct preparations showed a female karyotype, but a male culture, and a mixture of male and female cells in the CVS cultures from a female fetus are attributed to the 'vanishing twin' theory. This postulates that placental cells from a resorbed twin sac may persist amongst those of a continuing pregnancy (Tharapel et al, 1989;Callen et al, 1991). However, the possibility of maternal cell contamination in the direct method cannot be entirely dismissed (Blakemore et al, 1985).…”

Section: 'Vanishing Twin'mentioning

confidence: 99%

Cytogenetic analysis of chorionic villi for prenatal diagnosis: An ACC collaborative study of U.K. data

1994

Prenatal Diagnosis

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A prospective 3‐year collaborative study was undertaken in 1987 to collect cytogenetic data from diagnostic chorionic villus samples (CVS) in the U.K. in order to determine the predictive value of the chromosome abnormalities encountered. Twenty‐seven laboratories contributed a total number of 7595 cases, of which 97·6 per cent were successful. Excluding single cell anomalies, a total of 480 cytogenetic abnormalities were reported, of which 137 were familial structural rearrangements and 343 were de novo problems. Non‐mosaic trisomies of chromosomes 13, 18, and 21 (n=157), non‐mosaic sex chromosome abnormalities (n=33), and triploidy (n=6) were all confirmed in cells of fetal origin where follow‐up information was available. Of the nine remaining non‐mosaics including tetraploidy, trisomies of other autosomes, and extra markers, only a trisomy 16 and a case of a supernumerary marker proved genuine. Eighty‐eight cases of mosaicism were reported to the study, of which only nine were confirmed as genuine: two cases involving chromosome 13, one trisomy 18, two examples of extra marker chromosomes, three 45,X, and one 47,XXX. There were no reports of false‐negative findings. Presumptive maternal cell contamination was encountered in 39 cases, a detected incidence of 0·5 per cent. Four cases of presumptive ‘vanishing twin’ were recorded: in three of these, direct preparations showed a female karyotype, whereas cultures indicated a male (with male fetuses in two cases). The fourth case was of a female fetus with male and female cells in the CVS cultures. Subtle structural chromosome abnormalities were missed in three instances. Accurate prediction of the fetal karyotype was shown to require detailed knowledge of both the nature and the distribution of abnormal cells in the extra‐embryonic tissues. In many cases, this could only be made where results from direct preparations and cultured cells were available. A number of conclusions were reached from these and similar data in the literature regarding the reliability of chromosome findings in CVS.

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“…However, little is known about the pathophysiology of the process, an event that has been considered as a natural adaptation mechanism (Boklage, 1995). Other aetiological factors that may be involved are embryo aneuploidy (Tharapel et al, 1989;Rudnicki et al, 1991;Callen et al, 1991;Post and Nijhuis, 1992;Falik-Borenstein et al, 1994) or congenital abnormalities (Weissman et al, 1994). Due to the difficulties and limitations in its definition and diagnosis, the reported frequency of vanishing phenomenon has ranged from 3.7-100% (Dickey et al, 1990;Legro et al, 1995).…”

Section: Introductionmentioning

confidence: 99%

The `vanishing embryo' phenomenon in an oocyte donation programme

Rodríguez-González¹,

Serra²,

García-Velasco³

et al. 2002

Human Reproduction

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A normal 46,XX infant with a 46,XX/ 69.XXY placenta: A major contribution to the placenta is from a resorbed twin

Cited by 15 publications

References 10 publications

Confined placental mosaicism, IUGR, and adverse pregnancy outcome: A controlled retrospective U.K. collaborative survey

Confined placental mosaicism, IUGR, and adverse pregnancy outcome: A controlled retrospective U.K. collaborative survey

Cytogenetic analysis of chorionic villi for prenatal diagnosis: An ACC collaborative study of U.K. data

The `vanishing embryo' phenomenon in an oocyte donation programme

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