The clinical features of a 46,XX fetus with dysmorphic facial features, mild dilatation of the lateral ventricles of the brain, and female external and male internal genitalia are described. This combination of abnormalities does not appear to have been reported previously, and may represent a new syndrome.
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Article Synopsis
- Turner’s syndrome (TS) is a condition caused by the complete or partial absence of an X chromosome, affecting about 1 in 2200 live-born females, often diagnosed through karyotype analysis due to issues like pregnancy loss or IVF failures.
- In a case involving a 32-year-old patient who underwent IVF after ICSI-PGD and was diagnosed with a 45X/46XX karyotype, a fetal anomaly (upper limb hemimelia) was detected at the 12-week scan, leading to the termination of that fetus.
- The case highlights the increased risk of fetal anomalies in mosaic TS pregnancies, emphasizing the need for careful prenatal monitoring even with selected normal karyotype embryos.
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