产前诊断为47，XXX和47，XYY综合征的妊娠结局：一项为期30年的法国回顾性多中心研究。
Pregnancy outcomes in prenatally diagnosed 47, XXX and 47, XYY syndromes: a 30-year French, retrospective, multicentre study.
作者信息
Gruchy Nicolas, Blondeel Eleonore, Le Meur Nathalie, Joly-Hélas Géraldine, Chambon Pascal, Till Marianne, Herbaux Martine, Vigouroux-Castera Adeline, Coussement Aurélie, Lespinasse James, Amblard Florence, Jimenez Pocquet Mélanie, Lebel-Roy Camille, Carré-Pigeon Frédérique, Flori Elisabeth, Mugneret Francine, Jaillard Sylvie, Yardin Catherine, Harbuz Radu, Collonge-Rame Marie-Agnès, Vago Philippe, Valduga Mylène, Leporrier Nathalie, Vialard François
机构信息
Service de Génétique, Laboratoire de cytogénétique prénatale, CHU Côte de Nacre, UFR de Médecine Caen, Caen, France.
Laboratoire d'Histologie, Embryologie, Biologie de la Reproduction, Cytogénétique et Génétique médicale, CHI Poissy Saint Germain, Poissy, France.
出版信息
Prenat Diagn. 2016 Jun;36(6):523-9. doi: 10.1002/pd.4817. Epub 2016 May 10.
OBJECTIVE
Sex chromosome aneuploidies are frequently detected fortuitously in a prenatal diagnosis. Most cases of 47, XXX and 47, XYY syndromes are diagnosed in this context, and parents are thus faced with an unexpected situation. The objective of the present study was to characterize a French cohort of prenatally diagnosed cases of 47, XXX and 47, XYY and to evaluate the termination of pregnancy (TOP) rate before and after France's implementation of multidisciplinary centres for prenatal diagnosis in 1997.
METHODS
This retrospective study identified respectively 291 and 175 cases of prenatally diagnosed 47, XXX and 47, XYY between 1976 and 2012. For each case, the indication, maternal age, karyotype and outcome were recorded.
RESULTS
Most diagnoses of the two conditions were fortuitous. The occurrence of 47, XXX was associated with advanced maternal age. The overall TOP rate was higher for 47, XXX (22.9%) than for 47, XYY (14.6%), although this difference was not statistically significant. However, the TOP rates fell significantly after 1997 (from 41.1% to 11.8% for 47, XXX and from 25.8% to 6.7% for 47, XYY).
CONCLUSION
The TOP rates after prenatal diagnoses of 47, XXX and 47, XYY fell significantly after 1997, following France's implementation of multidisciplinary centres for prenatal diagnosis. © 2016 John Wiley & Sons, Ltd.
目的
性染色体非整倍体在产前诊断中常为偶然发现。大多数47, XXX和47, XYY综合征病例在此背景下被诊断出来，父母因此面临意外情况。本研究的目的是对法国一组产前诊断为47, XXX和47, XYY的病例进行特征描述，并评估1997年法国实施多学科产前诊断中心前后的终止妊娠（TOP）率。
方法
这项回顾性研究分别确定了1976年至2012年间产前诊断为47, XXX和47, XYY的291例和175例病例。记录每个病例的指征、母亲年龄、核型和结局。
结果
这两种情况的大多数诊断都是偶然的。47, XXX的发生与母亲高龄有关。47, XXX的总体终止妊娠率（22.9%）高于47, XYY（14.6%），尽管这种差异无统计学意义。然而，1997年后终止妊娠率显著下降（47, XXX从41.1%降至11.8%，47, XYY从25.8%降至6.7%）。
结论
1997年法国实施多学科产前诊断中心后，产前诊断为47, XXX和47, XYY后的终止妊娠率显著下降。© 2016约翰威立国际出版公司。
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