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   Dr. Ahter Tanay TAYYAR Health Sciences University Zeynep Kamil Women's and Children Health Education and Research Hospital

Turner’s syndrome (TS) TS is depicted as a total or partial absence of X chromosome 1/2200 of live born females 43-49 % of patients that represent cases with classical TS are monosomic for an X chromosome (45, X)

MOSAIC TS Most of them had 45, X/ 46, XX karyotypes (15-23%) 45,X/46,X (xq)(%14), 45,X/46,X r(x)(%3-11) Compared to those with 45, X monosomy normal pubertal development regular menstrual cycles conceive spontaneously

Generally, mosaic patients are diagnosed following karyotype analysis due to: recurrent pregnancy loss repeated in vitro fertilization (IVF) failure history of malformed babies

Purpose 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

Case Presentation 32 yo G2, P0, A2 ( 45X,46XX) First trial, 1/11 Second trial, 1/12 Third trial, 4/12 embryos were normally karyotyped (FISH) Dichorionic Diamniotic twin pregnancy was obtained 2 embrios fresh 2 embrios frozen

At the 12-week scan One of the fetuses had an upper limb hemimelia (ulnar and radial) in one arm There was no amniotic band Family history was questioned

At the sixteenth week The remaining fetus had a choroid plexus cyst, but it was disappeared at the twenty-second week. The patient delivered a healthy, 2980 g female baby at thirty-eight weeks.

Discussion TS women who are able to conceive are at increased risk for miscarriage, stillbirths, and malformed babies Tarani et al. analyzed 160 spontaneous pregnancies in 74 women with TS Kaneko N et al. 1990 Nielsen J et al. 1991 67.3% of the pregnancies with a 45,X/46,XX karyotype 70.8% of the pregnancies with a 45,X/46,XX/ 47,XXX karyotype

intrauterine amputation from amniotic bands Hemimelia ; intrauterine amputation from amniotic bands Environmental factors (10%) Maternal infections or disease, uterine constraint, and exposure of the embryo to recognized drugs, chemicals, irradiation, or hyperthermia. Errors in the genetic control of limb development.

TS- Miscarriages Uterine hypoplasia and related reduced uterine perfusion is secondary to significant changes in the utero-ovarian vascular anatomy, and subclinical uterine abnormalities in TS cases have been implicated in the etiology of miscarriages The same factors may play a role in the etiology of limb deficiency

TS - Pregnancy Cerebral paresis, neuropsychological disorders, aortic coarctations, cleft lips, and palate and congenital tumors Gestational diabetes and preeclampsia can also exist frequently in TS pregnancies Bryman I, et al. Fertil Steril 2011

Conclusion Our case is the first report regarding hemimelia diagnosed in a pregnancy that was obtained by ICSI-PGD in a patient with mosaic TS. In mosaic TS pregnancies (even those obtained by ICSI-PGD), fetal anomaly risk is high. Therefore, a careful scan is needed for these pregnancies.