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超声检测唐氏综合征:真的可行吗?

Ultrasound detection of Down syndrome: is it really possible?

作者信息

Lynch L, Berkowitz G S, Chitkara U, Wilkins I A, Mehalek K E, Berkowitz R L

机构信息

Department of Obstetrics, Mount Sinai Medical Center, New York, New York.

出版信息

Obstet Gynecol. 1989 Feb;73(2):267-70.

PMID:2521379
Abstract

Several ultrasonographic signs have been described in second-trimester fetuses at high risk for Down syndrome. We examined these parameters in twin pregnancies in which one fetus was affected with Down syndrome and the other was normal. Biparietal diameter to femur length ratio was concordant (either normal or abnormal) in eight of nine sets of twins. Actual femur length to expected femur length ratio was concordant in seven of nine sets of twins. Nuchal fold thickening (6 mm or more) correctly identified five out of nine affected fetuses and was not present in any of the normal fetuses. In conclusion, neither ratio was helpful in differentiating the fetus with Down syndrome from its normal cotwin. A thickened nuchal fold was the most informative parameter examined.

摘要

已经描述了孕中期唐氏综合征高危胎儿的几种超声特征。我们在双胎妊娠中检查了这些参数,其中一个胎儿患有唐氏综合征而另一个正常。在9对双胞胎中,有8对的双顶径与股骨长度之比是一致的(要么正常要么异常)。实际股骨长度与预期股骨长度之比在9对双胞胎中有7对是一致的。颈部褶皱增厚(6毫米或更厚)正确识别出了9例受影响胎儿中的5例,且所有正常胎儿均未出现该情况。总之,这两个比例均无助于将患有唐氏综合征的胎儿与其正常的双胎区分开来。增厚的颈部褶皱是所检查的最具信息量的参数。

相似文献

1
Ultrasound detection of Down syndrome: is it really possible?超声检测唐氏综合征:真的可行吗?
Obstet Gynecol. 1989 Feb;73(2):267-70.
2
Fetal biometry as a screening tool for the detection of chromosomally abnormal pregnancies.胎儿生物测量作为检测染色体异常妊娠的筛查工具。
Obstet Gynecol. 1989 Nov;74(5):726-9.
3
Sonographic identification of second-trimester fetuses with Down's syndrome.
N Engl J Med. 1987 Nov 26;317(22):1371-6. doi: 10.1056/NEJM198711263172203.
4
Sonographic measurements and ratios in fetuses with Down syndrome.唐氏综合征胎儿的超声测量及比值
Obstet Gynecol. 1989 Apr;73(4):644-6.
5
Can sonographers reliably identify anatomic features associated with Down syndrome in fetuses?
Radiology. 1989 Nov;173(2):377-80. doi: 10.1148/radiology.173.2.2529580.
6
Second-trimester sonographic diagnosis of Down syndrome: role of femur-length shortening and nuchal-fold thickening.孕中期超声诊断唐氏综合征:股骨长度缩短和颈项褶增厚的作用。
AJR Am J Roentgenol. 1988 Nov;151(5):981-5. doi: 10.2214/ajr.151.5.981.
7
Prenatal sonographic findings of Down syndrome: review of 94 cases.唐氏综合征的产前超声检查结果:94例病例回顾
Obstet Gynecol. 1990 Sep;76(3 Pt 1):370-7.
8
Biparietal diameter/femur length ratio, cephalic index, and femur length measurements: not reliable screening techniques for Down syndrome.双顶径/股骨长度比值、头指数和股骨长度测量:唐氏综合征不可靠的筛查技术。
Obstet Gynecol. 1990 Feb;75(2):186-8.
9
First-trimester risk assessment: twin gestations.
Semin Perinatol. 2005 Aug;29(4):258-62. doi: 10.1053/j.semperi.2005.06.003.
10
The current role of sonography in the detection of Down syndrome.超声检查在唐氏综合征检测中的当前作用。
Obstet Gynecol. 1989 Oct;74(4):620-3.

引用本文的文献

1
Trade-offs in prenatal detection of Down syndrome.唐氏综合征产前检测中的权衡
Am J Public Health. 1998 Apr;88(4):551-7. doi: 10.2105/ajph.88.4.551.
2
Antenatal diagnosis of short-limb dwarfism: sonographic approach.短肢侏儒症的产前诊断:超声检查方法
Pediatr Radiol. 1996;26(3):171-8. doi: 10.1007/BF01405292.