AI 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.
Article Abstract
Turner's syndrome (TS) is depicted as a total or partial absence of X chromosome, and occurs in approximately 1/2200 of live born females. Generally, mosaic patients are diagnosed following karyotype analysis due to recurrent pregnancy loss, repeated in vitro fertilization (IVF) failure, and a history of malformed babies. The 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. A 32-year old patient who underwent IVF after ICSI-PGD, and was diagnosed with 45X/46XX karyotype. At the 12-week scan, one of the fetuses had an upper limb hemimelia in one arm, and feticide was applied to that fetus. The patient delivered a healthy, 2980 g female baby at the thirty-eighth week. In mosaic TS pregnancies (even those obtained by ICSI-PGD), fetal anomaly risk is high. Therefore, careful prenatal scanning is needed for these pregnancies.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7009793 | PMC |
| http://dx.doi.org/10.1080/15476278.2017.1358842 | DOI Listing |
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