Outcomes of children diagnosed antenatally with sex chromosome aneuploidies

Non-invasive prenatal testing (NIPT) identifies risk of potential foetal chromosomal anomalies. Sex chromosome aneuploidies (SCA) may be identified on NIPT, with 45,X (Turner Syndrome, TS) and 47,XXY (Klinefelter Syndrome (KS)) being the most common, occurring at a rate of 1/2000 liveborn females and 1/600 liveborn males respectively.1 Wide variation in severity is seen in both KS and TS with a need for lifelong specialist follow-up to ensure appropriate screening, diagnosis and management of potential associations.1 Historically, individuals with SCA were identified due to clinical features, and it is estimated that only 25% of KS males were identified.2 Despite increasing uptake of NIPT screening in Victoria3 there are no data on pregnancy or clinical outcomes of infants identified as being at high-risk of SCA.