Sex Chromosome Aneuploidies (SCA)

Most people have either two X chromosomes or one X and one Y chromosome in their cells. People with a sex chromosome aneuploidy (SCA) have a different number of X and/or Y chromosomes.  The Harmony test looks for SCAs such as:

●        Monosomy X (a cause of Turner syndrome)

●        XXY (a cause of Klinefelter syndrome)

●        XXX

●        XYY

●        XXYY

 

People with SCAs can have birth defects, infertility and learning differences. Some people with an SCA have such subtle features that the condition isn’t identified until after childhood.

Monosomy X (a cause of Turner syndrome)

Monosomy X is a condition in which a female has one X chromosome and no second sex chromosome. It occurs in about 1/2500 births1 and is not typically inherited. Features are variable and can include endocrine (hormone) issues, heart defects and infertility. 1

For more detailed information about Monosomy X, including pregnancy management, health care guidelines, advocacy and support for families:

https://rarediseases.org/rare-diseases/turner-syndrome/

https://turnersyndromefoundation.org/

https://www.turnersyndrome.org/

Learn more about the Harmony prenatal test for Monosomy X.

XXY (a cause of Klinefelter syndrome)

XXY is a condition in which a male has two X chromosomes and one Y chromosome. It occurs in 1 in 500 to 1 in 1000 births2 and is typically not inherited. Features are variable and often subtle, and largely involve the endocrine (hormone) system.2

Learn more about prenatal screening options for Klinefelter syndrome.

For more detailed information about XXY, including pregnancy management, health care guidelines, advocacy and support for families:

https://rarediseases.org/rare-diseases/klinefelter-syndrome/

https://genetic.org/variations/about-47xxy/

 

Learn more about the Harmony prenatal test for sex chromosome aneuploidies.

1.        U.S. National Library of Medicine. Genetics Home Reference. Turner Syndrome. https://ghr.nlm.nih.gov/condition/turner-syndrome. Accessed April 25, 2018.

2.        U.S. National Library of Medicine. Genetics Home Reference. Klinefelter Syndrome. https://ghr.nlm.nih.gov/condition/klinefelter-syndrome. Accessed April 25, 2018.

リファレンス

1.        U.S. National Library of Medicine. Genetics Home Reference. Turner Syndrome. https://ghr.nlm.nih.gov/condition/turner-syndrome. Accessed April 25, 2018.

2.        U.S. National Library of Medicine. Genetics Home Reference. Klinefelter Syndrome. https://ghr.nlm.nih.gov/condition/klinefelter-syndrome. Accessed April 25, 2018. 

Harmony Prenatal TestはセルフリーDNA の解析に基づく非侵襲的出生前検査(NIPT)であり、確定検査ではありません。Harmony Prenatal Testは、明示的に特定されていない染色体や遺伝子疾患の可能性については検査しません。全ての受診者は自身の検査結果について、医師と十分に相談をして下さい。Harmony Prenatal Testは、CLIA認証及びCAP認定を受けている臨床研究所であるAriosaDiagnostics(米国カルフォルニア州サンノゼ)により開発され、その性能特性が確認されました。2018 年7 月現在、本検査サービスは米国FDA の審査や認証を受けていません。

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