Trisomy 9 In Prenatal Diagnosis - Case Report

Prenatal Cardiology Pub Date : 2014-03-01 DOI:10.12847/03145
M. Soroka, M. Słodki
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Abstract

Abstract 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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产前诊断中的9三体病例报告
摘要9三体是一种罕见的染色体疾病,通常会导致严重的死亡率。我们报告一例低风险妊娠。妊娠12周的产前超声检查显示颈部正常半透明,鼻骨存在。由一位经验丰富的医生进行的解剖扫描显示异常的四腔视图和异常的后颅窝。妊娠早期生化分析(游离β - hcg和ppap - a)显示18三体的高危。经羊膜穿刺(孕16周)和核型评估诊断为9型三体,孕20周应产妇要求进行流产。
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