Genetic Disorders and the Fetus 2015
DOI: 10.1002/9781118981559.ch5
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Prenatal Diagnosis of Sex Chromosome Abnormalities

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Cited by 4 publications
(6 citation statements)
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“…Compared with 47,XXX, 47,XYY, and mosaicism, 45,X and 47,XXY have more severe phenotypes, including abnormal sexual development, infertility, and physical problems. Mosaicism has variable phenotypes and generally has a better prognosis . This study showed that pregnant women with history of infertility were more likely to continue their affected pregnancies.…”
Section: Discussionmentioning
confidence: 66%
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“…Compared with 47,XXX, 47,XYY, and mosaicism, 45,X and 47,XXY have more severe phenotypes, including abnormal sexual development, infertility, and physical problems. Mosaicism has variable phenotypes and generally has a better prognosis . This study showed that pregnant women with history of infertility were more likely to continue their affected pregnancies.…”
Section: Discussionmentioning
confidence: 66%
“…SCA are relatively common genetic conditions, with an overall incidence of 1 in 400, approximately twice as frequent in newborns as trisomy 21 . Some individuals with SCA, in particular those with 47,XXX, 47,XYY, and mosaic SCA, may not have any phenotypic consequences and are not identified throughout their lifetimes . The most common symptoms are not life‐threatening and are associated with highly variable degrees of clinical problems in the physical, reproductive, and behavioral domains (Table ) .…”
Section: Introductionmentioning
confidence: 99%
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“…The argument can also be made that severity of the condition, per se , should not necessarily be the determining criteria for testing. As with sex‐chromosome abnormalities, prenatal detection can be justifiable because of the opportunities it provides for early therapeutic, educational and psychologic interventions .…”
Section: Discussionmentioning
confidence: 99%
“…Since 2013, some NIPT platforms have included sex chromosome abnormality (SCA) analysis along with the three common autosomal aneuploidies (Swanson, Sehnert, & Bhatt, ). As a group, SCAs are the most common chromosome abnormalities present at birth, occurring in every 1 in 300–400 live births (Milunsky, ). The most common SCA conditions are 45,X (Turner syndrome) and 47,XXY (Klinefelter syndrome).…”
Section: Introductionmentioning
confidence: 99%