Successful pregnancy with preimplantation genetic diagnosis in a woman with mosaic Turner syndrome

Önalan, Göğşen; Yılmaz, Zerrin; Durak, T.; Şahin, Feride İffet; Zeyneloglu, Hulusi Bulent

doi:10.1016/j.fertnstert.2010.12.055

Cited by 10 publications

(8 citation statements)

References 11 publications

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“…If women with an altered karyotype can conceive healthy euploid babies, they can also conceive babies with SCAs, because this mosaicism may also be present in the germ line (11,31 ). Although the true fetal ChrX measurement will be masked in most cases by the dominant maternal ChrX change, laboratories would still be alerted to a potential fetal SCA simply because of an altered maternal karyotype.…”

Section: Discussionmentioning

confidence: 99%

Maternal Mosaicism Is a Significant Contributor to Discordant Sex Chromosomal Aneuploidies Associated with Noninvasive Prenatal Testing

et al. 2014

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Section: Discussionmentioning

confidence: 99%

Maternal Mosaicism Is a Significant Contributor to Discordant Sex Chromosomal Aneuploidies Associated with Noninvasive Prenatal Testing

et al. 2014

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“…Mosaic TS patients are more likely to experience normal pubertal development, regular menstrual cycles and to conceive spontaneously compared to those with 45,X monosomy [ 2 ]. Since mosaic patients are diagnosed following karyotype analysis due to recurrent pregnancy loss, repeated in vitro fertilization (IVF) failure and history of an abnormal offspring, our knowledge concerning reproductive and obstetric outcomes relies on case reports and case series [ 4 , 10 – 12 ] and more comprehensive studies investigating the fertility outcomes of these patients.…”

Section: Introductionmentioning

confidence: 99%

Reproductive and obstetric outcomes in mosaic Turner’s Syndrome: a cross-sectional study and review of the literature

Döğer

Çakıroğlu

Ceylan

et al. 2015

Reprod Biol Endocrinol

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BackgroundTurner’s syndrome (TS) is depicted as a total or partial absence of one X chromosome that results in ovarian dysgenesis. Chances of spontaneous pregnancy in TS are rare and the outcome of the pregnancies is known to be poor with an increased risk of miscarriage and stillbirths. Our aim is to evaluate reproductive and obstetric outcomes of natural conception and in-vitro fertilization (IVF) cycles in mosaic TS patients.MethodsA total of 22 mosaic TS cases (seventeen 45,X/46,XX and five 45,X/46,XX/47,XXX karyotypes) were evaluated.ResultsLive birth and abortion rates were found as 32.7 % and 67.3 %, respectively in 52 pregnancies. Implantation, clinical pregnancy and take home baby rates were detected as 3.7 %, 8.6 % and 5.7 %, respectively per IVF cycle as a result of 35 cycles. Fecundability analysis revealed that 5 % of the cases experienced first pregnancy within 6 months and 8 % within the first 2 years. Mosaicism ratio did not have an effect on the time to the first pregnancy (p = .149).ConclusionOnly a small proportion of the mosaic TS patients conceive in the first 2 years of the marriage. Age of menarche and age of marriage appear not to have any impact on the chance of conceiving. Mosaic TS cases should counseled about the low odds of pregnancy and high miscarriage rates.

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“…However, only one publication can be found about a case using fluorescence in situ hybridization (FISH) for five chromosomes with the limitation of being unable to study aneuploidies for total chromosomes (24).…”

mentioning

confidence: 99%

Preimplantation genetic testing for aneuploidy in patients with partial X monosomy using their own oocytes: is this a suitable indication?

Gilés

Meseguer

Mercader

et al. 2020

Fertility and Sterility

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Successful pregnancy with preimplantation genetic diagnosis in a woman with mosaic Turner syndrome

Cited by 10 publications

References 11 publications

Maternal Mosaicism Is a Significant Contributor to Discordant Sex Chromosomal Aneuploidies Associated with Noninvasive Prenatal Testing

Maternal Mosaicism Is a Significant Contributor to Discordant Sex Chromosomal Aneuploidies Associated with Noninvasive Prenatal Testing

Reproductive and obstetric outcomes in mosaic Turner’s Syndrome: a cross-sectional study and review of the literature

Preimplantation genetic testing for aneuploidy in patients with partial X monosomy using their own oocytes: is this a suitable indication?

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