TRISOMY-13-SYNDROME - PRENATAL US FINDINGS IN A REVIEW OF 33 CASES
TRISOMY-13-SYNDROME - PRENATAL US FINDINGS IN A REVIEW OF 33 CASES
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DOI：
10.1148/radiology.194.1.7997556
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发表时间：
1995-01-01
期刊：
影响因子：
19.7
通讯作者：
LUTHY, DA
中科院分区：
文献类型：
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作者：
LEHMAN, CD;NYBERG, DA;LUTHY, DA
目得：目的：探讨13三体胎儿产前超声检查的类型和患病率。材料与方法：回顾性分析33例13三体胎儿和200例正常胎儿的产前超声检查结果。通过超声检测到的主要异常包括前脑无裂畸形（13例[39%]）或其他中枢神经系统异常（19例[58%]）、面部异常（15例[48%]）以及肾脏（11例[33%]）和心脏（16例[48%]）缺陷。16例（48%）还存在生长迟缓。10例（30%）可见回声性腱索，其中包括月经20周前检查的18例胎儿中的7例（39%）（与参考组200例胎儿中的4例[2%]相比[P < .001]）。其他发现一般不与13三体相关，但在本系列中存在，包括一个大的枕大池（6例[18%]），轻度脑室扩张（3例[9%]），颈部增厚或囊性水囊瘤（7例[21%]），左心室发育不良结论：产前超声检查可以帮助发现大多数13三体胎儿的一个或多个异常，因此，超声检查结果可以提示是否需要进行染色体核型检查。
PURPOSE: To determine the type and prevalence of prenatal ultrasound (US) findings in fetuses with trisomy 13.MATERIALS AND METHODS: Prenatal US findings in 33 consecutive fetuses with trisomy 13 and in 200 karyotypically normal fetuses were reviewed and compared.RESULTS: One or more abnormalities were found in 30 fetuses (91%). Major anomalies detected by means of US included holoprosencephaly (13 [39%]) or other central nervous system anomalies (19 [58%]), facial anomalies (15 [48%]), and renal (11 [33%]) and cardiac (16 [48%]) defects. Growth retardation was also present in 16 (48%). Echogenic chordae tendineae were seen in 10 (30%), which includes seven (39%) of 18 fetuses examined before 20 menstrual weeks (compared with four [2%] of 200 fetuses in the reference group [P < .001]). Other findings not generally associated with trisomy 13 but present in this series included a large cisterna magna (six [18%]), mild cerebral ventricular dilatation (three [9%]), nuchal thickening or cystic hygroma (seven [21%]), and a hypoplastic left side of the heart (seven [21%]).CONCLUSION: Prenatal US can help detect one or more anomalies in most fetuses with trisomy 13; thus, US findings can indicate whether karyotype should be tested.