1. 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

2. 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)

3. 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

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

5. 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

6. 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

7. 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

8. 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.

9. 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

10. 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.

11. 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

12. 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

13. 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.