Turner’s syndrome (TS) is a relatively common chromosomal disorder caused by complete or partial X mono­somy in some or all cells. It occurs in about 1/2,000 females. The TS phenotype is attributed to hemizygosity for genes that are common to both the X and Y chromosomes, and that are normally expressed on both the active and inactive X chromosomes in females [1-4].
Embryos and fetuses that have the 45,X0 karyotype at conception have a 99% prenatal loss rate, the phenotype being characterized by short stature, gonadal dysgenesis and anatomic malformations, including pterygium colli, congenital heart disease, renal anomalies and cubitus val­gus [1,3,5]. Prenatal testing, for the pregnancies at risk for a chromosome abnormality, has been offered in many countries since the 1970s [6]. The frequency of prenatal diagnosis of sex chromosome aneuploidy is increasing because of the widespread use of amniocentesis and chorionic villus sampling (CVS) for advanced maternal age, abnormal results on ultrasound examination or abnormal triple serum markers for Down’s syndrome [7]. Termination of pregnancy depends on the decision of the parents of fetuses with a sex chromosome abnormality [8]. We here report on the retrospective study indications for referral of TS cases diagnosed prenatally.