胎儿鼻骨超声检查对唐氏综合征产前筛查的价值

目的探讨产前和产后超声检查唐氏综合征(DS)胎儿鼻骨发育情况,以提高DS胎儿的产前筛查率。方法对42例经染色体核型分析证实为21-三体的DS胎儿和240例染色体正常胎儿的鼻骨产前超声声像图以及30例DS胎儿引产后尸体标本的鼻骨超声声像图进行分析,并于正中矢状切面测量鼻骨长度。结果染色体正常胎儿的鼻骨随着孕周增长而增长,鼻骨长度与孕周呈线性关系,超声孕周与鼻骨长度的相关系数为0.541(P0.05)。57.1%(24/42)的DS胎儿存在鼻骨缺失或发育不良,其中20例鼻骨缺失,超声声像图特征为颜面部正中矢状切面和横切面均显示无强回声鼻骨;4例鼻骨发育不良,超声声像图特征为鼻骨短小和一侧鼻骨缺失。结论 DS胎儿易发生鼻骨缺失或发育不良,胎儿鼻骨的产前超声检查可作为DS产前筛查的一个有效措施。     

中孕期胎儿鼻骨超声检查及临床意义探讨

目的 利用超声检测中孕期胎儿鼻骨发育,探讨超声测量胎儿鼻骨在检出染色体异常疾病的价值及临床意义.方法 2010-01-2010-12来广西壮族自治区妇幼保健院进行中孕期常规超声检查及胎儿系统超声筛查的孕妇进行鼻骨检测,对超声检查鼻骨异常者行染色体核型分析.结果 71 984例常规产前超声检查及产前超声系统筛查的孕妇,发现鼻骨缺失或发育不良者84例,合并有其他结构畸形22例,其中有染色体异常者32例(21-三体24例,18-三体7例,13-三体1例).结论 中孕期超声检测胎儿鼻骨对发现染色体异常有一定的临床实用价值,不失为一种简便、安全、可重复、非侵入性、孕妇易于接受的产前检查方法.     

胎儿超声检查鼻骨异常和鼻前软组织增厚在预测染色体异常中的应用研究

目的探讨超声检测胎儿鼻骨异常和鼻前软组织增厚在预测染色体异常中的应用价值。方法回顾性选取行超声系统筛查的孕妇5123例,超声检测胎儿鼻骨的长度及鼻前软组织厚度,对超声检出鼻骨异常及鼻前软组织增厚的胎儿均行无创产前基因检测(NIPT)或介入性产前诊断,然后进行染色体核型分析,染色体核型分析未见异常的胎儿临床均随访至生后1个月。结果 5123例行常规筛查的孕妇中有353例存在胎儿鼻部结构异常,其中鼻骨异常者187例,均为鼻骨缺失(双侧鼻骨缺失61例,单侧鼻骨缺失126例),鼻前软组织增厚者148例,鼻骨缺失合并鼻前软组织增厚者18例;经无创产前基因检测或介入性产前诊断,鼻骨缺失胎儿染色体及结构异常发生率为57.22%(107/187),其中唐氏综合征占65.42%,18-三体综合征占10.28%,13-三体综合征占9.35%,47,XXY综合征占1.87%;鼻前软组织增厚者胎儿染色体及结构异常发生率为50.00%(74/148),其中唐氏综合征占70.27%,18-三体综合征占9.46%,13-三体综合征占6.76%,47,XXY综合征占1.35%; 18例鼻骨缺失合并鼻前软组织增厚胎儿,唐氏综合征占93.33%,18-三体综合征占5.56%,13-三体综合征占11.11%,47,XXY综合征占5.56%;胎儿鼻前软组织组增厚组在孕11～25周时胎儿鼻前软组织显著厚于鼻前软组织正常组(P 0.05);鼻骨缺失、鼻前软组织增厚的胎儿及二者合并出现的胎儿发生唐氏综合征的发生率显著高于鼻骨及鼻前软组织正常的胎儿(P 0.05)。结论对孕早中期胎儿进行鼻骨发育情况及鼻前软组织厚度超声检测,可有效预测胎儿染色体异常的发生,对唐氏综合征胎儿筛查有着重要的应用价值。     

唐氏综合征胎儿遗传学超声指标分析

目的分析唐氏综合征(DS)胎儿各项遗传学超声指标发生情况及超声特征,拟在中孕期通过遗传学超声检测各项指标来提高DS的产前筛查率。方法通过对42例染色体核型分析证实为21-三体DS胎儿的产前、产后超声声像图进行研究分析各项遗传学超声指标。结果 42例DS胎儿中有88.1%(37/42)单独或合并存在结构畸形、鼻骨发育不良、颈项透明层或颈褶增厚、第5指中节指骨发育不良、股骨肱骨短、肾盂分离、心室点状强回声、草鞋足等遗传学超声指标。结论中孕期遗传学超声检测各项遗传学超声指标是提高DS胎儿产前筛查的一个有效措施。     

中孕期超声诊断胎儿鼻骨发育不良与染色体微阵列分析结果的研究

目的探讨中孕期超声诊断胎儿鼻骨发育不良与染色体微阵列分析(CMA)结果间的相关性。方法选取于我院行胎儿系统超声筛查提示胎儿鼻骨发育不良,进一步行CMA检查的孕妇130例,其中111例为胎儿单纯性鼻骨发育不良(鼻骨缺失59例、鼻骨短小52例),19例为胎儿鼻骨发育不良合并其他结构畸形,依据CMA结果分为正常组、致病组、临床意义不明的染色体拷贝数微缺失和微重复(VOUS)组,比较单纯性鼻骨发育不良与鼻骨发育不良合并其他结构畸形两者间CMA不同结果的检出率是否有差异。结果 111例单纯性鼻骨发育不良胎儿中,CMA结果正常组90例(81.1%),致病组13例(11.7%),VOUS组8例(7.2%);19例鼻骨发育不良合并其他结构畸形胎儿中,CMA结果正常组10例(52.6%),致病组8例(42.1%),VOUS组1例(5.3%)。单纯性鼻骨发育不良与鼻骨发育不良合并其他结构畸形两者间CMA结果比较差异有统计学意义(P0.05)。结论胎儿鼻骨发育不良,尤其是合并其他结构畸形者是进一步行染色体检查的重要指标。     

B超测量胎儿鼻骨的临床价值与唐氏综合征的相关性

选取不存在高危情况的孕妇应用B超仪器检测并观察胎儿鼻骨,并对其进行测量,针对胎儿鼻骨发育不正常再进行染色体分析。结果胎儿染色体核型没有出现异常,且结构也正常的胎儿有1250例,超声检测成功显示鼻骨的有1200例,怀孕周数越多,正常胎儿的鼻骨长度就越长(P0.05);有36例胎儿的鼻骨发育不全(3.0%),其中有17例显示是鼻骨缺失,有19例显示是鼻骨短小,其中有30例染色体发育不正常(83.3%),29例唐氏综合征,1例18-三体。应用B超检测胎儿鼻骨对于孕妇产前诊断是非常重要的,同时胎儿鼻骨发育不健全对于唐氏综合征的预测有很大的临床应用价值,本次研究也表示胎儿鼻骨和唐氏综合症有及其紧密的关系。     

中晚孕期胎儿鼻骨缺失与染色体异常的研究

目的:探讨孕22-30周超声筛查胎儿鼻骨缺失在染色体异常诊断中的应用价值。材料与方法:2014年10月至2016年3月中晚孕期在陕西中医药大学第二附属医院行四维超声筛查发现鼻骨缺失的17例胎儿均行染色体检查并随访至引产或出生后,总结胎儿异常超声声像图特征。结果:17例胎儿产前超声显示:(1)面部正中矢状切面及横切面扫查均不能显示鼻梁皮肤下方的鼻骨强回声。其中11例胎儿合并多发畸形:5例胎儿心脏畸形(室间隔缺损3例,室间隔缺损合并大血管异常1例,完全型心内膜垫缺损1例),1例全前脑。其他结构异常包括:股骨及肱骨短,肠管回声增强,单双侧侧脑室临界增宽,双肾盂轻度增宽,双手姿势形态异常等。(2)染色体检查:17例胎儿中9例为21-三体,1例为13-三体,1例为18-三体,6例为正常核型。(4)产后检查及随访:17例胎儿超声及染色体检查后引产11例(尸检1例),出生6例,4例随访无明显异常,2例失访;11例胎儿产前超声与产后检查结果均符合。结论:中晚孕期超声检出胎儿鼻骨缺失应行染色体核型分析,减少染色体异常胎儿的出生。     

中晚孕期胎儿鼻骨缺失及染色体异常的超声诊断分析

目的：探讨孕16-34周超声筛查胎儿鼻骨缺失在染色体异常诊断中的应用价值。方法2008至2013年中晚孕期在北京协和医院超声筛查发现鼻骨缺失的20例胎儿均行染色体检查并随访至引产或出生后,总结胎儿鼻骨缺失超声声像图特征。结果20例胎儿产前超声显示：（1）双侧鼻骨缺失17例,面部正中矢状切面及横切面扫查均不能显示鼻梁皮肤下方的鼻骨强回声。其中5例胎儿合并多发畸形：4例胎儿心脏畸形（房室间隔缺损3例,房室间隔缺损合并大血管异常1例）,1例胎儿十二指肠梗阻。其他微小结构异常包括：股骨及肱骨短,肠管回声增强,迷走右锁骨下动脉,单侧侧脑室临界增宽,双肾盂轻度增宽,吐舌征,双手姿势形态异常。（2）单侧鼻骨缺失3例,面部横切面扫查仅能显示胎儿一侧鼻骨强回声。其中2例合并心脏畸形（房室间隔缺损1例,室间隔缺损1例）;合并其他微小结构异常包括：股骨及肱骨短,肠管回声增强,颈背部皮肤增厚。（3）染色体检查：17例双侧鼻骨缺失胎儿中9例为21-三体,1例为4p-（Wolf-Hirschhorn综合征）,7例为正常核型;3例单侧鼻骨缺失胎儿中2例为21-三体,1例为正常核型。（4）产后检查及随访：20例胎儿超声及染色体检查后引产12例（尸检1例）,出生8例,5例随访无明显异常,3例失访;12例胎儿产前超声与产后检查结果均符合。结论中晚孕期鼻骨缺失胎儿超声图像特征为双侧或单侧鼻骨强回声缺失,且多伴微小结构异常,超声检出胎儿鼻骨缺失应行染色体核型分析,减少21-三体等染色体异常胎儿的出生。     

超声胎儿鼻骨测量在筛查胎儿畸形中的应用价值

目的 探讨超声胎儿鼻骨测量在胎儿畸形筛查中的应用价值.方法 对我院近年超声筛查异常55例(观察组)的超声资料进行回顾性分析,观察胎儿鼻骨发育情况,并与健康体检的孕妇(对照组)进行比较,分析鼻骨长度与孕周的关系,同时记录患儿其他的发育畸形情况.结果 观察组有28例声像图表现为鼻骨强回声连续性中断,诊断为胎儿鼻骨缺失;27例声像图表现为胎儿鼻骨短小,诊断为鼻骨发育不良.对两组胎儿鼻骨长度与孕周关系进行Logistic线性回归分析(线性回归方程为y=1.371 +3.013x),差异有统计学意义(=28.557,P=0.000),同时发现观察组胎儿伴有多种发育畸形;对照组未见发育异常,各孕周鼻骨长度及检出率均正常.观察组中鼻骨短小的27例与对照组各孕期鼻骨长度比较差异均有统计学意义(P＜0.05).结论 产前(孕中期)超声检测胎儿鼻骨发育情况,能有效提高染色体异常的检出率.     

孕15~20＋6周产前超声筛查联合孕妇血清学筛查提高胎儿染色体异常检出率的临床研究

目的：评价产前超声筛查联合孕妇血清学筛查对提高胎儿染色体异常检出率的临床价值。方法选择于孕15~20＋6周已行孕妇血清学筛查且结果提示有21-三体和（或）18-三体临界风险的628例胎儿行超声筛查,采用经腹部超声对胎儿鼻骨（NB）和颈部皮肤皱褶（NF,中孕期超声软指标）进行检测,观察有无鼻骨发育不良、有无颈部皮肤皱褶增厚（＞6 mm为增厚）及有无其他超声软指标异常,对鼻骨发育不良及颈部皱褶增厚者进行羊水穿刺染色体核型分析。结果产前超声筛查的628例胎儿中发现鼻骨皱发育不良6例（0.96%,6/628）,其中1例合并颈部皮肤皱褶增厚,2例合并肠道回声增强,1例合并脉络膜囊肿,1例合并左心室内高回声;6例胎儿均行羊水穿刺染色体核型分析,2例为21-三体（33.3%,2/6）,余4例染色体未见明显异常。结论产前超声筛查联合孕妇血清学筛查可提高染色体临界风险胎儿染色体异常的检出率。     

Nasal bone hypoplasia in trisomy 21 at 15-22 weeks' gestation.

OBJECTIVE: To investigate the potential value of ultrasound examination of the fetal profile for present/hypoplastic fetal nasal bone at 15-22 weeks' gestation as a marker for trisomy 21. METHODS: This was an observational ultrasound study in 1046 singleton pregnancies undergoing amniocentesis for fetal karyotyping at 15-22 (median, 17) weeks' gestation. Immediately before amniocentesis the fetal profile was examined to determine if the nasal bone was present or hypoplastic (absent or shorter than 2.5 mm). The incidence of nasal hypoplasia in the trisomy 21 and the chromosomally normal fetuses was determined and the likelihood ratio for trisomy 21 for nasal hypoplasia was calculated. RESULTS: All fetuses were successfully examined for the presence of the nasal bone. The nasal bone was hypoplastic in 21/34 (61.8%) fetuses with trisomy 21, in 12/982 (1.2%) chromosomally normal fetuses and in 1/30 (3.3%) fetuses with other chromosomal defects. In 3/21 (14.3%) trisomy 21 fetuses with nasal hypoplasia there were no other abnormal ultrasound findings. In the chromosomally normal group hypoplastic nasal bone was found in 0.5% of Caucasians and in 8.8% of Afro-Caribbeans. The likelihood ratio for trisomy 21 for hypoplastic nasal bone was 50.5 (95% CI 27.1-92.7) and for present nasal bone it was 0.38 (95% CI 0.24-0.56). CONCLUSION: Nasal bone hypoplasia at the 15-22-week scan is associated with a high risk for trisomy 21 and it is a highly sensitive and specific marker for this chromosomal abnormality.     

Ultrasonographic measurement of fetal nasal bone in a low-risk population at 19-22 gestational weeks.

OBJECTIVE: To determine the potential value of sonographic measurement of fetal nasal bone at 19-22 weeks' gestation in screening for trisomy 21 in a low-risk population. METHODS: The fetal nasal bone was measured in a mid-sagittal view in 2035 fetuses at 19-22 weeks' gestation. A reference range was constructed and the measurements in fetuses with trisomy 21 were compared to the normal group. RESULTS: The fetal profile was successfully examined in 1913/2035 (94%) fetuses. The mean nasal bone length increased linearly with gestation from 6.2 mm at 19 weeks to 6.8 mm at 22 weeks. Nasal bone hypoplasia, defined by absence of the bone or a measurement below the 2.5th centile, was observed in 34/1899 (1.8%) chromosomally normal fetuses (1.8%), in 5/5 fetuses with trisomy 21 and in 0/9 fetuses with other chromosomal defects. CONCLUSION: At 19-22 weeks' gestation, nasal bone hypoplasia is observed in a high proportion of trisomy 21 fetuses and in less than 2% of chromosomally normal fetuses.     

中晚孕期胎儿鼻骨异常预测21-三体

目的 评价中晚孕期胎儿鼻骨异常对21-三体的诊断价值。方法 分析在我院接受胎儿产前超声检查的5460名孕妇的资料,以常规超声检查胎儿及其附属物,如发现胎儿鼻骨异常,行羊膜腔穿刺或抽取脐带血进行染色体核型分析。结果 共发现10胎鼻骨异常。4胎鼻骨缺失,其中1胎骨骼发育障碍,染色体正常;余3 胎均为21-三体合并心脏或其他系统异常。6胎鼻骨发育不良,表现为鼻骨短小、一侧鼻骨缺失或鼻骨骨化不良,其中1胎为21-三体合并其他系统异常;1胎为地中海贫血,染色体正常;余4胎未合并其他系统异常,为孤立性鼻骨发育不良,染色体正常。结论 鼻骨缺失是21-三体的超声常见表现,但孤立性鼻骨发育不良对21-三体的诊断价值需要进一步探讨。     

Three-dimensional ultrasound with maximal mode rendering: a novel technique for the diagnosis of bilateral or unilateral absence or hypoplasia of nasal bones in second-trimester screening for Down syndrome.

OBJECTIVE: Three-dimensional (3D) ultrasound of the fetal face with maximal mode rendering allows accurate visualization of the bony face and the distinct demonstration of both nasal bones in second-trimester fetuses. The aim of this study was to analyze the feasibility of assessing nasal bones spatially on prenatal ultrasound in second- and third-trimester fetuses with present and absent nasal bones. METHODS: The faces of 38 fetuses between 17 and 33 weeks' gestation were examined with 3D ultrasound and volumes were stored for offline evaluation. Eighteen fetuses had normal karyotype and an apparently normal nasal bone on 2D ultrasound; these were examined to standardize the 3D rendering technique. Twenty fetuses had trisomy 21. RESULTS: In all 18 healthy fetuses both nasal bones could be demonstrated on 3D ultrasound. Nine of the 20 Down syndrome fetuses had a hypoplastic or absent nasal bone on two-dimensional ultrasound. On 3D ultrasound three of the nine had discrepant findings between left and right nasal bones with evidence of absence of one side, and hypoplasia (n = 2) or normal length (n = 1) of the other. CONCLUSIONS: Unilateral absence or hypoplasia of nasal bones is an important and new observation in fetuses with Down syndrome. This differentiation is best demonstrated on 3D ultrasound with maximal mode rendering. This observation of unilaterality of findings could explain some discrepant findings on absence of nasal bones on two-dimensional ultrasound but their "presence" on lateral postmortem radiographs.     

Likelihood ratios for fetal trisomy 21 based on nasal bone length in the second trimester: how best to define hypoplasia?

OBJECTIVE: To determine the best measure of fetal nasal bone hypoplasia for trisomy 21 risk assessment in the second trimester. METHODS: This was a prospective, observational study performed at a single institution between February 2003 and December 2005. Fetuses with nasal bone length recorded sonographically between 16 and 20.9 weeks and known karyotype were included. Definitions of nasal bone hypoplasia assessed included: non-visualized nasal bone, nasal bone < 10th percentile, nasal bone < 2.5th percentile, biparietal diameter/nasal bone ratio >or= 10 and >or= 11 and nasal bone multiples of the median (MoM) 相似文献   

Fetal nasal bone length in euploid and aneuploid fetuses between 11 and 20 weeks' gestation: a prospective study.

OBJECTIVE: To develop normative data for nasal bone length between 11 and 20 weeks' gestation and to assess the utility of nasal bone hypoplasia in the detection of fetal aneuploidy in the second trimester. METHODS: Well-dated, nonanomalous fetuses were examined between 11 and 20.9 weeks' gestation. The nasal bone was assessed and measured, and normative data from 11 to 20 weeks' gestation were determined. The nasal bone lengths in fetuses with confirmed aneuploidy were compared with the normative data. RESULTS: The fetal nasal bone length increased linearly with advancing gestational age. Nomograms including the 10th, 50th, and 90th percentiles were created. Nasal bone hypoplasia was seen in 6 of 6 cases of fetal trisomy in the second trimester. CONCLUSIONS: Nasal bone hypoplasia in the early second trimester identifies a cohort of fetuses at high risk for aneuploidy.     

The nasal bone in fetuses with trisomy 21: sonographic versus pathomorphological findings.

OBJECTIVE: To compare the sonographic findings of the nasal bone in fetuses with trisomy 21 with pathomorphological findings to determine whether the bone is truly absent. METHODS: Seventeen first-trimester fetuses with trisomy 21 were identified; the median gestational age was 12 weeks (range, 11-14) and the median maternal age was 38 (range, 27-47) years. Transabdominal ultrasound examination, preceding transabdominal chorionic villus sampling (TA-CVS) for karyotyping, included assessment of the fetal nose. The nasal bone was determined to be 'hypoplastic' or 'absent' and its length was measured. All pregnancies underwent termination after diagnosis. Serial sagittal sectioning with hematoxylin and eosin-staining of formalin fixed tissue was performed. RESULTS: Of the 17 cases, the nasal bone was sonographically evident, but with severe hypoplasia in 10 cases, absent in six, and in the remaining case it was not able to be assessed due to fetal position. Histomorphologically, in 16 cases a nasal bone was present, detectable by the evidence of an ossification center, and in one case the ossification structure was not clearly visualized. Retrospective review of ultrasound images could identify nasal bones in five of the six cases in which they were initially reported as being absent on ultrasound examination. These were visible, but less distinct and had decreased echogenicity, hence misinterpretation led to the false finding of an absent nasal bone when it was in fact present but hypoplastic. CONCLUSION: Sonographic assessment of the fetal nasal bone should not distinguish between 'present' and 'absent', but instead between 'normal' and 'hypoplastic'. For reproducible results it is necessary to standardize the sonographic examination. The sonographic landmarks of the fetal nose are: the nasal bone, the skin above and the cartilaginous tip of the nose.     

Comparison of fetal nasal bone assessment by ultrasound at 11-14 weeks and by postmortem X-ray in trisomy 21: a prospective observational study.

OBJECTIVE: To compare nasal bone assessment by ultrasound examination at 11-14 weeks' gestation and postmortem X-ray examination in fetuses with trisomy 21. METHODS: Twenty-one fetuses with trisomy 21 which had undergone sonographic examination at 11-14 weeks for measurement of nuchal translucency thickness and assessment of the nasal bones were examined by postmortem X-ray following termination of pregnancy. RESULTS: The nasal bones were absent in 11/21 (52.4%) fetuses on ultrasound examination at 11-14 weeks and in 10/21 (47.6%) fetuses on X-ray examination at 14 to 25 + 5 weeks. Ultrasound and X-ray findings were discordant in 9/21 (42.9%) cases. Eight of 11 (72.7%) fetuses with absent nasal bones on ultrasound examination had a nuchal translucency thickness > 95th centile. CONCLUSION: The high incidence of absent nasal bones in first-trimester fetuses with trisomy 21 is compatible with a developmental delay. Prior to inclusion of nasal bone assessment into risk calculation for trisomy 21, the independence of absence of nasal bones by ultrasound and increased nuchal translucency above the 95th centile at 11-14 weeks should be investigated more extensively.