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首页> 外文期刊>Case Reports in Obstetrics and Gynecology >A New Case of Prenatally Diagnosed Pentasomy X: Review of the Literature
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A New Case of Prenatally Diagnosed Pentasomy X: Review of the Literature

机译：产前诊断X角膜X线切开术的新病例：文献综述。

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Pentasomy X is a rare chromosomal abnormality probably due to a nondisjunction during the meiosis. Only four cases prenatally diagnosed were described until now. Our case is the fifth one prenatally diagnosed at 20 weeks of gestational age in a 39-years-old woman. She underwent invasive prenatal diagnosis for her advanced maternal age without any other known risk factor. Amniocentesis performed at 17 weeks showed a female 49, XXXXX karyotype. The ultrasonographic examination revealed nonspecific signs of a mild early fetal growth retardation and no significant increased nuchal fold. The fetal autopsy and the X-ray excluded major malformations. Prenatal diagnosis is often difficult due to the lack of indicative ultrasonographic findings and the rarity of described cases. The influence of the mother’s age on the occurrence of penta-X syndrome has not been determined. Considering the lack of correlation between advanced maternal age and increased risk for pentasomy X, as well as the absence of typical echographic signs, evaluation of the inclusion of a noninvasive prenatal test (NIPT) that expands clinical coverage to include the X and Y chromosomes in routine prenatal diagnosis should be considered as well as three-dimensional ultrasound to detect any helpful indicative prognostic signs.
机译：Pentasomy X是一种罕见的染色体异常，可能是由于减数分裂过程中的不分离所致。到目前为止，仅描述了四例产前诊断的病例。我们的病例是一名39岁妇女在妊娠20周时产前诊断的第五例。她因母亲高龄接受了侵入性产前诊断，没有任何其他已知的危险因素。在第17周进行的羊膜穿刺术显示出女性49，XXXXX核型。超声检查发现胎儿有轻度早期胎儿发育迟缓的非特异性体征，且颈部折叠没有明显增加。胎儿尸检和X线检查排除了主要畸形。由于缺乏指示性的超声检查结果和所述病例的罕见性，产前诊断通常很困难。尚未确定母亲的年龄对penta-X综合征发生的影响。考虑到未成年孕妇年龄与五线切割X风险增加之间缺乏相关性，以及缺乏典型的超声检查体征，评估纳入非侵入性产前检查（NIPT）可扩大临床覆盖范围，包括X染色体和Y染色体应当考虑常规的产前诊断以及三维超声检查，以发现任何有用的预后指标。

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