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  1. 1 Prenatal Cardiology

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  1. 1 2014

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  1. 1 Soroka M.

  2. 1 Słodki M.

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Trisomy 9 In Prenatal Diagnosis - Case Report

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Soroka M., Słodki M.
Prenatal Cardiology
|
2014
|
vol. 4
|
issue 1
24-28
EN
Trisomy 9 is a rare chromosomal disorder that often results in significant mortality. We present a case report in a low-risk pregnancy. The prenatal ultrasonography at 12 weeks of gestation showed normal nuchal translucency and the presence of the nasal bone. The anatomy scan performed by an experienced doctor revealed an abnormal four chamber view and abnormal posterior cranial fossa. First trimester biochemical analysis ( free βhCG and PAPP-A) showed high risk for trisomy 18. By amniocenthesis ( at 16 weeks of gestation ) and karyotype evaluation trisomy 9 was diagnosed and at 20 weekstermination was conducted on maternal request.
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