@2024 Afarand., IRAN

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ISSN: 2251-8215    Sarem Journal of Reproductive Medicine 2018;2(1):

Information & Methods About one-third of embryos with Nuchal Thickening (NT) have chromosomal ‎abnormalities. One of these abnormalities is Klinefelter syndrome (47XXY). The ‎aim of this case report was to indicate the importance of prenatal diagnosis with ‎consideration of anomalies reports in both screenings of the first and second ‎trimester of pregnancy as well as the importance of NT and the need for further ‎chromosomal studies in these conditions.‎ A 29-year-old woman with the first pregnancy was referred to Screening Clinic of ‎Sarem Hospital for the first stage of aneuploidy screening in gestational age of 13 ‎weeks and 2 days. The screening results of the first trimester were normal and in ‎the second screening, the Quad marker testing (four tests of Inhibin A, Free β-hCG, ‎AFP, and UE3) was conducted in gestational age of 16 weeks; the risk of Fetal ‎Neural Tube Defects and Down syndrome were reported again in the low-risk ‎range. Amniocentesis was asked for the patient for a definitive diagnosis because ‎of the high NT range. In the review and analysis of amniotic fluid cells, karyotype ‎was reported as 47XXY (Klinefelter syndrome).‎
Conclusion In aneuploidy screening, only estimating the risk of common trisomies of 13, 18, ‎and 21 is not the case. NT amount must be examined separately. The prenatal ‎diagnosis of these disorders is effective in planning and future prognosis of ‎pregnancy. Klinefelter syndrome is one of those chromosomal abnormalities, ‎which occurs as a XXY karyotype with an outbreak of 1 in 10,000 in boys, and, ‎unfortunately, it is not diagnosed until the puberty after manifesting itself as a ‎demonstration of hypogonadism. Early diagnosis and alternative hormone ‎therapy can make natural maturation process in these cases. ‎