Pregnancy outcomes of prenatally diagnosed Turner syndrome: a French multicenter retrospective study including a series of 975 cases
Pregnancy outcomes of prenatally diagnosed Turner syndrome: a French multicenter retrospective study including a series of 975 cases
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DOI：
10.1002/pd.4439
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发表时间：
2014-12-01
影响因子：
3
通讯作者：
Leporrier, N.
中科院分区：
文献类型：
--
作者：
Gruchy, N.;Vialard, F.;Leporrier, N.
目的本研究的目的是报告特纳综合征（TS）产前诊断后的妊娠结局，并比较和评估两个时期的终止妊娠率。选择的时间间隔之前和之后，1997年，多学科中心产前诊断（MCPDs）成立于frances.MethodsA数据库的975例TS诊断1980年至2012年之间，从21个法国细胞遗传学实验室。对于每一种情况下，染色体组型的迹象，母亲的年龄，一年的产前检查，采样程序，染色体组型，相关的超声检查结果，和outcomes recorded.ResultsKaryotypes主要是因为异常的超声检查结果（84%）。在1997年之前，受影响胎儿的终止率（90%）没有变化。1997年以后，这一比率下降到80%。这种减少主要见于镶嵌性、偶然诊断和后期妊娠。US异常更有可能与一个完整的45，X染色体核型。ConclusionThere是一个进化的方式进行遗传咨询后，产前诊断特纳综合征，正好与开放的MCPD在法国。这导致受影响胎儿的终止率下降。(c)2014年约翰威利父子有限公司
ObjectivesThe objectives of this study were to report pregnancy outcomes after prenatal diagnosis of Turner syndrome (TS) and to compare and assess termination of pregnancy rates during two periods. The intervals selected were before and after 1997 when multidisciplinary centers for prenatal diagnosis (MCPDs) were established in France.MethodsA database of 975 cases of TS diagnosed between 1980 and 2012 was created from 21 French cytogenetics laboratories. For each case, the karyotype indication, maternal age, year of prenatal testing, sampling procedure, karyotype, associated ultrasound findings, and outcomes were recorded.ResultsKaryotypes were mainly performed because of abnormal sonographic findings (84%). Before 1997, there were no changes in the rate of termination (90%) of affected fetuses. After 1997, the rate fell to 80%. This decrease was mainly observed in cases of mosaicism, incidental diagnosis, and in later gestations. US abnormalities were more likely to be associated with a full 45,X karyotype.ConclusionThere was an evolution in the way genetic counseling was performed following prenatal diagnosis of Turner syndrome that coincided with the opening of MCPDs in France. This resulted in a decrease in the rate of termination of affected fetuses. (c) 2014 John Wiley & Sons, Ltd.