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  • Title: Outcome of fetuses with Turner syndrome: a 10-year congenital anomaly register based study.
    Author: Iyer NP, Tucker DF, Roberts SH, Moselhi M, Morgan M, Matthes JW.
    Journal: J Matern Fetal Neonatal Med; 2012 Jan; 25(1):68-73. PubMed ID: 21463211.
    Abstract:
    OBJECTIVE: To describe the characteristics and outcome of fetuses with Turner syndrome reported to a national congenital anomalies register. METHODS: All cases with a diagnosis of Turner syndrome reported to Congenital Anomaly Register and Information Service for Wales (CARIS) between 1 January 1998 and 31 December 2007 were included. The cases were grouped in five categories based on their outcomes: fetal loss (FL), termination of pregnancy (TOP), live birth (LB), and postnatal (PN) detection and comparison was undertaken between the groups. RESULTS: One hundred twenty-four cases were reported during the study period. The prevalence of Turner syndrome was 1 in 4901 live female births. Seventy-four percent had 45 X karyotype while the rest had some form of Mosaic Turner karyotype. Pregnancy was terminated in 66% of antenatally diagnosed cases. FL and TOP groups had 92% and 87%, respectively, of 45 X karyotype - far greater than in the LB and PN groups. Increased nuchal thickness was the commonest anomaly noted in antenatal ultrasound and was a predictor for 45 X karyotype, FL, and termination. CONCLUSION: Termination was the most common outcome of fetuses diagnosed antenatally with Turner syndrome. This has modified the natural history of Turner syndrome particularly in cases with Mosaic karyotype.
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