Spontaneous pregnancy in a 45,X/46,X,r (X) Turner's mosaic patient

Yuge, Akitoshi; Takai, Noriyuki; Nishida, Yoshihiro; Narahara, Hisashi; Miyakawa, Isao

doi:10.1034/j.1600-0412.2003.00171.x

Cited by 7 publications

(1 citation statement)

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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][3][4][5] Generally, mosaic patients are diagnosed following karyotype analysis due to recurrent pregnancy loss, repeated in vitro fertilization (IVF) failure, and history of malformed babies. [6][7][8] In the past few years, authors have recommended intracytoplasmic sperm injection and preimplantation genetic diagnosis (ICSI-PGD) for infertility treatment of the patients with mosaic Turner Syndrome.…”

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confidence: 99%

Upper limb hemimelia in a twin pregnancy which was obtained by an ICSI and PGD in a woman with mosaic Turner's syndrome and the prognosis

Tayyar

Eser

et al. 2017

Organogenesis

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Turner's syndrome (TS) is depicted as a total or partial absence of X chromosome, and occurs in approximately 1/2200 of live born females. Generally, mosaic patients are diagnosed following karyotype analysis due to recurrent pregnancy loss, repeated in vitro fertilization (IVF) failure, and a history of malformed babies. The purpose of this case report is to show that even a selection of normal karyotype embryos can result in abnormalities for those with mosaic TS. A 32-year old patient who underwent IVF after ICSI-PGD, and was diagnosed with 45X/46XX karyotype. At the 12-week scan, one of the fetuses had an upper limb hemimelia in one arm, and feticide was applied to that fetus. The patient delivered a healthy, 2980 g female baby at the thirty-eighth week. In mosaic TS pregnancies (even those obtained by ICSI-PGD), fetal anomaly risk is high. Therefore, careful prenatal scanning is needed for these pregnancies.

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