Dichorionic triamniotic triplet pregnancy with monozygotic twins discordant for trisomy 13 after preimplantation genetic screening: case report

Taylor, Deborah M.; Thum, Meen‐Yau; Abdalla, Hossam

doi:10.1016/j.fertnstert.2008.01.095

Cited by 19 publications

(21 citation statements)

References 35 publications

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“…Previous literature reports include monozygous twins discordant for monosomy 21 2 in one case, trisomy 21 [3][4][5][6] in four cases and trisomy 13 7,8 in two cases.…”

Section: Discussionmentioning

confidence: 94%

Monozygotic twins discordant for trisomy 13

et al. 2012

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“…Previous literature reports include monozygous twins discordant for monosomy 21 2 in one case, trisomy 21 [3][4][5][6] in four cases and trisomy 13 7,8 in two cases.…”

Section: Discussionmentioning

confidence: 94%

Monozygotic twins discordant for trisomy 13

et al. 2012

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“…5,6 There are only four reports of monochorionic twins discordant for trisomy 13. [6][7][8][9] The mechanism of occurrence of monozygotic twins has been discussed by various authors, 4,10 but little is known about the mechanisms underlying heterokaryotypic twinning. Parent of origin studies in our case indicated maternal origin of the trisomic chromosome.…”

Section: Discussionmentioning

confidence: 99%

Monozygotic twins discordant for trisomy 13: counselling and management issues

et al. 2012

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The diagnosis and management of a heterokaryotypic monochorionic pregnancy, in which one of twins had trisomy 13, is presented. Monozygosity and discordant karyotypes were confirmed by amniocentesis of both the sacs. Radiofrequency ablation of the trisomic twin was successfully performed at 18-weeks gestation and the pregnancy ended at term with the birth of a healthy girl who remains well on follow-up at 12 months of age. We reiterate the importance of early amniocentesis of both the sacs in the presence of discordant fetal abnormalities and consideration of selective fetal termination to optimise the outcome of heterokaryotypic monochorionic twin pregnancies.

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“…There are few reports in the literature describing the occurrence of a heterokaryotypic pregnancy [6][7][8][9][10][11][12][13][14] . This condition can occur in association with any type of twinning, as a single fertilized ovum can split at different stages and develop either a dichorionic placenta (if splitting occurs within the first 3 days after fertilization) or a monochorionic placenta (if splitting occurs after the 3rd postfertilization day) [1][2][3] .…”

Section: Discussionmentioning

confidence: 99%

“…Subsequent reports documented the occurrence of a heterokaryotypic pregnancy mainly in association with sex-chromosome aneuploidy, such as Turner syndrome [6][7][8][9] . Of note, the association with a discordant autosomal aneuploidy is far less common, with reported cases documenting the involvement of trisomy 21 [6,9,12,13] and trisomy 13 [9,14] . Almost all cases have been reported in spontaneously conceived twin pregnancies, with only one case involving a triplet pregnancy obtained by in vitro fertilization after preimplantation embryo biopsy for genetic screening [14] .…”

Section: Discussionmentioning

confidence: 99%

“…Most reported cases have been described in relation to sex-chromosome aneuploidy, particularly monosomy X (Turner syndrome) [6][7][8][9] or unlike-sex monochorionic twins [10,11] , with only a handful of cases involving an autosomal trisomy [6,9,[12][13][14] . We report a case of a spontaneous monochorionic-diamniotic twin pregnancy discordant for severe lethal congenital anomalies in which prenatal karyotyping demonstrated discordancy for trisomy 13.…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Heterokaryotypic Pregnancy: Monozygotic Monochorionic Twins Discordant for Trisomy 13

Sepúlveda

Wong²,

M³

2010

Fetal Diagn Ther

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Background: The occurrence of a discordant chromosomal abnormality in monozygotic twins is an extremely rare condition. Case: We report the prenatal sonographic findings and cytogenetic studies in a monochorionic twin pregnancy discordant for severe fetal anomalies. Amniocenteses demonstrated heterokaryotypia for trisomy 13 in monozygotic twins. The pregnancy was managed conservatively, resulting in the delivery of discordant twins at 32 weeks. The structurally normal twin survived without sequelae, but the abnormal twin died shortly after delivery. Conclusions: This report adds to the literature the second known case of a spontaneously conceived monochorionic twin pregnancy discordant for trisomy 13 and highlights the necessity of sampling both fetuses in cases of monochorionic twins presenting with discordant structural anomalies.

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Dichorionic triamniotic triplet pregnancy with monozygotic twins discordant for trisomy 13 after preimplantation genetic screening: case report

Cited by 19 publications

References 35 publications

Monozygotic twins discordant for trisomy 13

Monozygotic twins discordant for trisomy 13

Monozygotic twins discordant for trisomy 13: counselling and management issues

Heterokaryotypic Pregnancy: Monozygotic Monochorionic Twins Discordant for Trisomy 13

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