Prenatal diagnosis of heterokaryotypic mosaic twins discordant for fetal sex

Discordant Prenatal Phenotype and Karyotype of Monozygotic Twins Characterized by the Unequal Distribution of Two Cell Lines Investigated by Different Methods: A Review

“…Previously reported cases of discordant phenotype and karyotype may be grouped into three categories: discordance of sexual phenotype with mosaicism 46,XY/45,X or 45,X/46,XX (Chen et al, 2003;Shmid et al, 2000;Wachtel et al, 2000); discordance of autosomal trisomies or monosomies (Cheng et al, 2006;Lewi et al, 2003;Lewi et al, 2006;Nieuwint et al, 1999;Rogers et al, 1982); and, very rarely, unusual structural anomalies (Bourthoumieu et al, 2005).…”

Monozygotic twins with discordant karyotypes following preimplantation genetic screening and single embryo transfer: case report

“…One fetus had normal and the second one had pathological mosaic karyotype 45,XX,-13 [12]/46,XX,r(13) [3]. MZT with discordant karyotypes were described earlier as an uncommon event [21][22][23][24][25][26][27][28] and chromosomal abnormality in only one fetus of MZT pregnancy is even a more rare constellation [26,29]. DNA tests confirmed the zygozity of both embryos which was a predictable result because of the fact that a single embryo transfer was performed and the chance of spontaneous pregnancy was limited for several reasons: The main reason was the male partner's compromised semen parameters.…”

“…Biopsied cells were spread using HCl / Tween20 method as described by Coonen [19]. FISH was performed in two-rounds, allowing the detection of chromosomes 13,16,18,21,22 in the first round (MultiVysion PB kit; Vysis, USA) and X, Y in the second round (CEP X SG/CEP Y(α) SO; Vysis, USA). The standard scoring criteria for FISH analysis were used [20].…”

A Case Report of Heterokaryotypic Monochorionic Twin Pregnancy with Discordant for Turner Syndrome

“…8,9 The results of cordocentesis showed that an intrauterine exchange of lymphocytes through vessel anastomoses can lead to false blood cord results. 10 Therefore, in this study, we did not perform CVS at 11 weeks of gestation because of the false result caused by performing CVS before amniocentesis and the high risk for pregnancy loss. We performed amniocentesis RFA is the best recommended method.…”