Confined blood chimerism in a monochorionic dizygotic sex discordant twin pregnancy conceived after induced ovulation

Bras, Anne Mayeur Le; Petit, François; Benachi, Alexandra; Bedel, Bettina; Oucherif, Salima; Martinovic, Jéléna; Armanet, Narjes; Tosca, Lucie; Gautier, Valérie; Parisot, Frédéric; Labrune, Philippe; Tachdjian, Gérard; Brisset, Sophie

doi:10.1002/bdra.23457

Cited by 16 publications

(8 citation statements)

References 34 publications

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“…The rare phenomenon of MCDZ twins and blood chimerism has been described both in cattle and humans . Few reports have demonstrated fusion‐susceptibility following artificial reproductive techniques, but spontaneous MCDZ pregnancies like the one seen in this study have also rarely been described. Uncertainties accompany such pregnancies, because placental anastomoses might expose the female fetus to blood products of the male such as anti‐Müllerian hormone and androgens that might masculinize Müllerian derivatives (freemartin effect), such as has been described in cattle.…”

mentioning

confidence: 58%

Non‐confined long‐standing blood chimerism in a spontaneous monochorionic dizygotic twin pregnancy

Daum

Frumkin

Meiner

et al. 2019

Intl J Gynecology & Obste

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A 30-year-old woman was referred to our medical center for amniocentesis in her first pregnancy due to sex discordance in monochorionic twins. The pregnancy was spontaneous, and a first-trimester ultrasound demonstrated monochorionic diamniotic twins (Supp. Fig. S1). Nuchal translucency was normal for both fetuses (1.1 and 1.3 mm). An anomaly scan at the 17th gestational week revealed both female and male fetuses without malformations (Fig. 1A). At this point, a double amniocentesis was performed for single nucleotide polymorphism (SNP) array (Affymetrix, Santa Clara, CA, USA) that revealed dizygotic twins, female and male with normal karyotypes. Short tandem repeat analysis supported dizygosity (Supp . Table S1). However, human leukocyte antigen (HLA) typing was similar for both twins (Supp . Table S2). At the 34th week of gestation, an emergency cesarean delivery was performed due to twin anemia polycythemia syndrome. A girl and a boy were delivered, weighing 2150 g and 2130 g with hemoglobin 21.8 g/dL and 10.2 g/dL respectively. External genitalia were defined as normal by an experienced pediatric endocrinologist, and an ultrasound of the female pelvis demonstrated a uterus. Cord blood revealed chimerism in both twins, as the karyotype of the male contained five cells with 46,XX out of 30 analyzed (17%). However, buccal smear fluorescence in situ hybridization (FISH) analysis did not reveal chimerism. Karyotype analysis of the female's blood demonstrated 27% chimerism (8/30 cells), whereas buccal smear FISH revealed 1% chimerism (5/405). Gross and microscopic examination of the placenta revealed a monochorionic diamniotic structure (Fig. 1B).Two-year follow-up eventually proved persistent chimerism in both twins. The male had 3% chimerism for 46,XX cells (7/200) and the female had 5% chimerism for 46,XY cells (7/139) from buccal smear.The present study describes non-confined blood chimerism in monochorionic dizygotic twin (MCDZ) twins with an excellent outcome in the first two years. The rare phenomenon of MCDZ twins and blood chimerism has been described both in cattle and humans. 1 Few reports have demonstrated fusion-susceptibility following artificial reproductive techniques, 2 but spontaneous MCDZ pregnancies like the one seen in this study have also rarely been described. Uncertainties accompany such pregnancies, because placental anastomoses might expose the female fetus to blood products of the male such as anti-Müllerian hormone and androgens that might masculinize Müllerian derivatives (freemartin effect), such as has been described in cattle. Details regarding human female development under such circumstances are distinctly lacking. There is one case reporting freemartinism in a female with trisomy 21, 3 but all other 30 cases are of a twin female with normal inner and outer genitalia. 4 The present case is another example of good outcome for both twins following meticulous pregnancy follow-up, without freemartinism despite chimerism. Follow-up through puberty and even throughout the life course is ...

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mentioning

confidence: 58%

Non‐confined long‐standing blood chimerism in a spontaneous monochorionic dizygotic twin pregnancy

Daum

Frumkin

Meiner

et al. 2019

Intl J Gynecology & Obste

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“…SNP-array analysis of buccal membrane cells revealed a single cell line 46,XX in the twin girl and a single cell line 47,XY,+21 in the twin boy. According to the previous reports [1][2][3], an early fusion of two separately fertilized embryos occurred and the outer masses subsequently formed the placenta. The fusion before implantation lead to a single placenta with vascular anastomosis allowing an intrauterine exchange of cord blood stem cells.…”

Section: Discussionmentioning

confidence: 91%

“…The embryonic lineage remained spatially distinct. This phenomenon exists because of the immaturity of the immunological fetal system [3]. The proportion of chimerism highly depends on the directivity and quantity of vascular anastomosis.…”

Section: Discussionmentioning

confidence: 99%

“…In fact, ART increases the risk of preimplantation fusion, especially when several embryos are placed with a close physical proximity. Zona pellucida (ZP) disruption and various cell culture procedures can lead to changes on the cell surface, or induced ovulation and extended blastocyst culture are promoting multiple birth and embryo fusion [3][4][5]. This hypothesis that under certain conditions, fusion of preimplantation mammalian embryos can be induced in vitro was supported by studies of Tarkowski and Wojewodzka [6].…”

Section: Discussionmentioning

confidence: 99%

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Case Report: Monochorinic Dizygotic Twins With Chi 47,XY,+21 /46,XX In Peripheral Blood Cells

Shen

Chen

Wang

et al. 2021

Preprint

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Background: A 38-year-old woman conceived twins by in-vitro fertilization (IVF). Ultrasound examinations showed signs of monochorionic twins.Case presentation: Standard karyotyping of peripheral blood cells from the twins showed chimerism 47,XY,+21/46,XX, mainly 46,XX line. Single nucleotide polymorphism microarray (SNP-array) analysis of buccal membrane cells from the twins showed a single cell line 46,XX in the twin girl and a single cell line 47,XY,+21 in the twin boy. Three-year follow-up after the birth showed that the twin girl had normal development, while the twin boy had Down Syndrome.Conclusion: This is the first report on monochorionic dizygotic (MCDZ) twins by IVF with normal development/Down Syndrome respectively. To evaluate prenatal diagnosis of twins, early determination of chorionic status is important, and the amniotic fluid karyotyping is preferred rather than chorion villus sampling (CVS) or cord blood. It is important to perform genetic analysis of different tissues of MCDZ twins. Future research is needed to identify the causes and long-term consequences of chimerism in twins.

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“…Because zygosity diagnosis is not a universal test in twin pregnancy, the knowledge about the prevalence of MCDZ is still limited, and only several case reports have been published in the past . Monochorionic dizygotic twin pregnancies might be closely related to ART . The discussing findings from the publication of Miura and Niikawa suggested that ART techniques could change the cell surface and increase the chance of embryo fusion.…”

Section: Discussionmentioning

confidence: 99%

Unusual twinning: Additional findings during prenatal diagnosis of twin zygosity by single nucleotide polymorphism (SNP) array

et al. 2018

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Confined blood chimerism in a monochorionic dizygotic sex discordant twin pregnancy conceived after induced ovulation

Abstract: We report on a case of monochorionic dizygotic twin pregnancy. This observation underlies the need to carefully assess twin pregnancies, especially when obtained after assisted reproductive technology.

Cited by 16 publications

References 34 publications

Non‐confined long‐standing blood chimerism in a spontaneous monochorionic dizygotic twin pregnancy

Non‐confined long‐standing blood chimerism in a spontaneous monochorionic dizygotic twin pregnancy

Case Report: Monochorinic Dizygotic Twins With Chi 47,XY,+21 /46,XX In Peripheral Blood Cells

Unusual twinning: Additional findings during prenatal diagnosis of twin zygosity by single nucleotide polymorphism (SNP) array

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