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首页> 外文期刊>BMJ: British medical journal >Prenatal and postnatal prevalence of Turner's syndrome: a registry study
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Prenatal and postnatal prevalence of Turner's syndrome: a registry study

机译：产前及产后特纳的患病率综合症:一个注册表

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Objective—To study prevalence of Turner's syndrome in Denmark and to assess validity of prenatal diagnosis. Design—Study of data on prenatal and postnatal Turner's syndrome in Danish Cytogenetic Central Register. Subjects—All registered Turner's syndrome karyotypes (100 prenatal cases and 215 postnatal cases) during 1970-93. Main outcome measures—Prevalence of Turner's syndrome karyotypes among prenatally tested fetuses and Turner's syndrome among liveborn infants. Results—Among infant girls, prevalence of Turner's syndrome was 32/100000. Among female fetuses tested by amniocentesis, prevalence of Turner's syndrome karyotypes was 176/100000 (relative risk of syndrome, 6.74 compared with prevalence among untested pregnancies). Among female fetuses tested by chorion villus sampling, prevalence of syndrome karyotypes was 392/100000 (relative risk, 16.8). We excluded prenatal tests referred because of results of ultrasound scanning: among fetuses tested by amniocentesis revised relative risk was 5.68, while revised relative risk among fetuses tested by chorion villus sampling was 13.3. For 29 fetuses with prenatal diagnosis of possible Turner's syndrome, pregnancy was allowed to continue and 24 children were live born. Thirteen of these children were karyotyped postnatally, and diagnosis of Turner's syndrome had to be revised for eight, seven being normal girls and one boy. This gives tentative predictive value of amniocentesis in diagnosing Turner's syndrome of between 21% and 67%. There was no significant relation between mother's age and risk of Turner's syndrome. Conclusions—Discrepancy between prenatal and postnatal prevalence of Turner's syndrome challenges specificity of prenatal examination in diagnosing Turner's syndrome.
机译：:靠研究特纳氏综合征的患病率在丹麦和产前的有效性进行评估诊断产后特纳氏综合征在丹麦细胞遗传学中央登记。特纳氏综合征分析(100产前情况1970 - 93年期间和215例产后病例)。结果measures-Prevalence特纳氏综合征分析在产前胎儿和测试特纳氏综合征中活胎产的婴儿。结果婴儿女孩,患病率特纳氏综合征是32/100000。胎儿测试通过羊膜穿刺术,患病率特纳氏综合征分析是176/100000(6.74相对综合症的风险,相比患病率在未经测试怀孕)。女性胎儿绒毛膜绒毛取样测试,综合征患病率分析是392/100000(相对风险,16.8)。由于超声波的结果扫描:在胎儿羊膜穿刺术进行测试修正后的相对风险为5.68,而修订之间的相对风险胎儿绒毛膜测试绒毛取样是13.3。产前诊断可能的特纳氏综合征,怀孕被允许继续和24个孩子活着出生。产后核型和特纳的诊断综合症必须修订八,七正常的女孩和一个男孩。羊膜穿刺术在诊断的预测价值特纳氏综合征的21%和67%之间。母亲的年龄之间没有显著的关系和特纳氏综合征的风险。Conclusions-Discrepancy产前和产后特纳氏综合征的患病率挑战特异性的产前检查诊断特纳氏综合征。

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