Sebire N J, Snijders R J, Davenport M, Greenough A, Nicolaides K H
Harris Birthright Research Centre for Fetal Medicine, King's College Hospital Medical School, London, United Kingdom.
Obstet Gynecol. 1997 Dec;90(6):943-6. doi: 10.1016/s0029-7844(97)89686-x.
To examine the possible association between increased fetal nuchal translucency thickness at 10-14 weeks and congenital diaphragmatic hernia.
This was a multicenter ultrasound screening study for chromosomal defects in singleton pregnancies by a combination of maternal age and fetal nuchal translucency at 10-14 weeks' gestation. The prevalence of diaphragmatic hernia diagnosed prenatally or postnatally was calculated in the chromosomally normal group and in those pregnancies resulting in live births with no dysmorphic features suggestive of a chromosomal abnormality. We calculated the sensitivity of nuchal translucency above the 95th centile of the normal range in the detection of diaphragmatic hernia and the possible prognostic value of increased nuchal translucency in the prediction of outcome.
There were 78,639 pregnancies presumed to be normal chromosomally, including 19 with diaphragmatic hernia. In four cases, the parents opted for termination of the pregnancy. The other 15 pregnancies resulted in live births; nine infants survived after successful surgical repair of the hernia, but six neonates died because of pulmonary hypoplasia. At the 10- to 14-week scan, the fetal nuchal translucency was above the 95th centile for crown-rump length in seven (37%) cases of diaphragmatic hernia. The translucency was increased in five of the six cases that resulted in neonatal death, compared with two of the nine survivors (Z = 2.32, P < .05).
The prevalence of diaphragmatic hernia in chromosomally normal fetuses is about one in 4000, and nearly 40% of affected fetuses have increased nuchal translucency at 10-14 weeks' gestation. Increased nuchal translucency may be a marker of intrathoracic compression-related pulmonary hypoplasia.
研究孕10 - 14周时胎儿颈部半透明带厚度增加与先天性膈疝之间可能存在的关联。
这是一项多中心超声筛查研究，通过结合孕妇年龄和孕10 - 14周时胎儿颈部半透明带情况，对单胎妊娠中的染色体缺陷进行筛查。计算染色体正常组以及那些出生时无提示染色体异常的畸形特征的活产妊娠中产前或产后诊断出的膈疝患病率。我们计算了颈部半透明带厚度高于正常范围第95百分位数在膈疝检测中的敏感性以及颈部半透明带增厚在预测结局方面可能的预后价值。
共有78639例妊娠被认为染色体正常，其中19例患有膈疝。4例中，父母选择终止妊娠。另外15例妊娠为活产；9例婴儿在疝成功手术修复后存活，但6例新生儿因肺发育不全死亡。在孕10 - 14周扫描时，7例（37%）膈疝病例的胎儿颈部半透明带厚度高于头臀长的第95百分位数。导致新生儿死亡的6例中有5例半透明带增厚，而9例幸存者中有2例增厚（Z = 2.32，P <.05）。
染色体正常胎儿中膈疝的患病率约为四千分之一，近40%受影响的胎儿在孕10 - 14周时颈部半透明带厚度增加。颈部半透明带增厚可能是与胸腔内压迫相关的肺发育不全的一个标志。
