孕11-13^＋6周胎儿颈项透明层增厚的临床意义

胎儿颈项透明层（nuchal translucency,NT）是指胎儿颈后皮下液体积聚,在超声图像上表现为颈后无回声区。1992年Nicolaides等[1]建议将NT测量作为早孕期染色体筛查的一个超声指标。经过多年的研究,学者们发现NT增厚除与染色体异常有关外还与胎儿结构畸形、遗传综合征、流产高风险、胎儿宫内死亡等有关[2]。这些风险与NT增厚的程度有一定的关系[3]。     

超声筛查孕11～13+6周胎儿畸形的初探

目的探讨经腹部超声在孕11～13+6周筛查胎儿畸形的临床价值。方法在本院建卡的1 153名孕妇,孕11～13+6周超声系统观察胎儿解剖结构,测量胎儿颈后透明层厚度和鼻骨长度,并跟踪随访。结果⑴1 153例胎儿的全程随访中发现孕期及新生儿期异常者26例,正常儿1 126例,失访1例;⑵建立孕11～13+6周胎儿颈后透明层厚度和鼻骨长度正常参考值;⑶胎儿颈后透明层厚度及鼻骨长度的检测成功率分别为98.04%和95.02%;⑷26例异常胎儿中包括孕期发现胎儿畸形16例(孕11～13+6周超声诊断胎儿畸形5例,孕11～13+6周后超声诊断胎儿畸形11例)、染色体异常3例,胎死宫内5例,产前无异常发现、新生儿发现异常者2例。结论孕11～13+6周超声检查可筛查严重解剖结构畸形和染色体异常胎儿,在早孕期终止妊娠能大大降低孕妇身体和心理的伤害。     

NT超声检查在早孕期胎儿筛查中的应用价值

目的:分析早孕期胎儿筛查中应用颈项透明层厚度(NT)超声检查的价值。方法:选取2019年4月—2019年10月期间于我院接受早孕期胎儿筛查的116例孕妇为研究对象,所有孕妇均行颈项透明层厚度(NT)超声检查,对NT增厚的胎儿,需再行羊水穿刺的染色体异常检测。所有孕妇均获随访,后期随访行超声检查,记录胎儿分娩结局,对比NT超声检查结果与染色体检查结果及后期随访、胎儿分娩结果。结果:116例行早孕期胎儿筛查中,NT增厚者6例,占比5.17%,NT厚度正常者110例,占比94.83%;与正常胎儿比较,异常胎儿的NT厚度更高(P<0.05);6例NT增厚者经染色体检查后,出现1例13-三体、1例18-三体和1例21-三体患者,占比均为0.08%;6例NT增厚胎儿中,检测到染色体正常但出现骨骼畸形、头颅形态异常和心脏畸形各1例,占比均为0.08%,经后期随访超声检查和胎儿分娩结局显示,NT厚度正常但出现脐膨出患者1例;NT超声检查在早孕期胎儿筛查中的准确率为85.71%,漏诊率为14.29%。结论:颈项透明层厚度超声检查应用于早孕期胎儿筛查,可准确筛查出畸形、染色体异常胎儿,具有较高应用价值。     

超声软指标前额空间比联合NIPT检测在早孕期胎儿染色体异常筛查中的应用价值

目的：观察超声软指标前额空间比(PFSR)联合无创产前基因(NIPT)检测在早孕期胎儿染色体异常筛查中的应用价值。方法：选取2020年1月~2023年2月于我院接受早孕期羊水染色体核型检测的高危孕妇80例,均行产科超声及NIPT检测,以羊水穿刺染色体检测为金标准,比较超声软指标PFSR、NIPT及两者联合检测筛查早孕期胎儿染色体异常的应用价值。结果：80例孕妇中,经羊水染色体核型检测筛查出11例(13.75%)存在染色体异常,其中21-三体6例,18-三体2例,13-三体2例,Turner综合征1例。采用超声软指标PFSR检测筛查早孕期胎儿染色体异常的敏感性、特异性及准确性分别为63.64%、86.96%、83.75%;NIPT检测为72.73%、88.41%、86.25%;PFSR联合NIPT检测为90.91%、98.55%、97.50%。PFSR联合NIPT检测筛查的特异性及准确性均高于单一检测(P<0.05),三种检测方法的敏感性比较差异不显著(P>0.05)。结论：超声软指标PFSR联合NIPT检测能提高筛查早孕期胎儿染色体异常的应用价值,其特异性及准确性较高,值得推广。     

超声检测早孕期颈项透明层增厚的临床价值

目的应用超声检测胎儿颈项透明层(NT)厚度,探讨其增厚与胎儿异常妊娠的关系。方法选取我院早孕期筛查的584例NT增厚的单胎胎儿病例,按照不同NT值分为3.0~3.9 mm组(313例)、4.0~4.9 mm组(169例)及≥5.0 mm组(102例),比较各组胎儿结构异常、染色体异常检出率及不良预后情况,分析NT增厚与异常妊娠的关系。结果超声检查发现584例NT增厚者,其中单纯NT增厚者330例(56.51%),合并其他结构异常者254例(43.49%)。419例胎儿行染色体核型分析,结果显示核型正常364例,核型异常55例。正常分娩存活283例,自然流产或胚胎宫内停止生长15例,引产282例,失访4例。胎儿结构异常、染色体异常、不良妊娠结局均随NT增厚而升高,各组NT增厚胎儿结构异常检出率、不良妊娠结局比较差异均有统计学意义(χ~2=3.464、37.312,P=0.019、<0.01);染色体异常检出率比较差异无统计学意义(χ~2=2.523,P=0.178)。结论胎儿NT厚度与胎儿异常妊娠密切相关,且胎儿异常妊娠检出率随NT增厚明显升高,早孕期超声监测NT厚度可以较早发现胎儿严重结构畸形,有效筛查染色体核型异常的高危胎儿,为临床评价胎儿的预后提供了重要的参考价值。     

中晚孕期超声筛查胎儿染色体异常的有效性及应用价值研究

目的 研究中晚孕期超声筛查胎儿染色体异常的有效性及应用价值.方法 经超声筛查为结构异常的中晚孕期胎儿和经孕母血清筛查为高风险的中期妊娠胎儿,行羊膜腔或脐静脉穿刺取羊水或脐血,作染色体核型诊断.结果 ①超声筛查接受检查的结构异常胎儿31例,检出异常染色体8例,检出率为25.8%.31例中颈部淋巴囊肿伴水肿3例,全部染色体异常;单纯颈项皮肤增厚3例,其中2例染色体异常;多发畸形、Dandy-Walker畸形及前脑无裂畸形各1例,染色体均异常.②血清筛查接受检查的唐氏综合征和18-三体高风险孕妇516例,检出异常染色体14例,检出率为2.71%.14例中唐氏综合征7例,其他染色体异常7例.③单纯超声筛查和血清筛查共筛查为高危又接受诊断者544(516+28)例,检出异常染色体21(14+7)例,两种方法互补染色体异常检出率为3.86%.互补筛查检出率是血清筛查的1.42倍,比血清筛查提高42.43%.结论 ①中晚孕期超声显示的某些胎儿结构异常是提示胎儿染色体异常的有效指征.②超声和血清两种筛查方法互补,可以提高染色体异常的检出率,对于血清失筛查或筛查低危漏诊孕妇是有效的弥补措施.     

NT与NF筛查染色体异常的意义

目的：探讨早孕期测量颈项透明层（NT）值及中孕期测量颈后皮肤皱褶（NF）值对筛查染色体异常的意义及其相互关系。方法：对3 963名单胎孕妇分别于孕早期（11～14周）测量NT值,在孕中期（16～22周）测量NF值,并对孕妇随诊观察。结果：3 963名孕妇中共发现染色体异常胎儿39胎,13胎表现为孕早期NT增厚（33.3%）,12胎表现为NF增厚（30.8%）,其中NT及NF均增厚5胎。超声检查共发现44胎NT增厚病例及55胎NF增厚病例,其中包括14胎NT及NF均增厚病例。NT增厚对染色体异常的检出率为29.5%, NF增厚对染色体异常的检出率为21.8%,NT及NF均增厚对染色体异常的检出率为35.7%。结论：NT及NF是筛查染色体异常的两个独立、有效的软指标,NT及NF均增厚的胎儿出现染色体异常的风险性明显增加。     

早孕期胎儿严重心脏畸形的产前筛查与咨询

近年来随着超声技术和诊断水平的提高,早孕期超声可直接观察胎儿心脏结构,孕11~13~(+6)周进行胎儿严重心脏畸形的筛查成为可能。二维和彩色多普勒超声于四腔心切面和三血管气管切面可以较好地筛查早孕期胎儿严重心脏结构畸形,若胎儿颈项透明层增厚和静脉导管血流频谱异常也能提高心脏畸形的检出率。对于早孕期发现的先天性心脏病胎儿,建议2~3周后再次复查胎儿超声心动图,并综合评估胎儿的预后以提供更好的产前咨询。     

胎儿颈项透明层厚度(NT)超声检查在早孕期胎儿筛查中的临床意义与价值分析

目的:研究分析在早孕期胎儿筛查中实施胎儿颈项透明层厚度(NT)超声检查的临床意义和价值。方法:研究资料为2019年2月-2019年8月本院收治的300例早孕期胎儿筛查的孕妇患者,对所有患者实施胎儿颈项透明层厚度(NT)超声检查,选择检查结果为NT增厚的患者再次进行染色体检查,选择检查结果NT增厚但是染色体核型正常的患者进行超声随访,之后将两次检查结果进行观察记录,研究NT超声检查对于早孕期胎儿的检查价值。结果:行超声检查胎儿颈项透明层厚度(NT)增厚的患者为12例,总占比4.00%,平均厚度为(5.2±1.1)mm,显著高于正常厚度的(2.0±0.5)mm,组间差异明显,(P0.05);经过染色体检查12例NT检查增厚的发现3例患者21-三体,2例患者18-三体,2例患者13-三体;其余染色体检查正常经超声随访后发现1例患者骨骼畸形,2例患者头颅形态异常,2例患者出现心脏畸形;且1例患者出现脐膨出现象。颈项透明层厚度(NT)超声检查诊断准确率为92.31%(12/13),漏诊率为7.69%(1/13)。结论:颈项透明层厚度(NT)超声检查可以高效的筛查出染色体异常以及出现畸形的胎儿,具有较高的应用价值。     

21三体综合征、18三体综合征、13三体综合征胎儿的超声表现

目的探讨21三体综合征、18三体综合征、13三体综合征胎儿的超声表现。方法本研究为回顾性研究选取北部战区总医院妇产科2018年1月至2020年12月收治的51例行羊水穿刺确诊的胎儿染色体数目异常的早中期孕妇, 年龄(29.4±3.4)岁, 年龄范围为26～40岁, 其中21三体综合征34例, 18三体综合征12例, 13三体综合征5例, 对其早中孕期超声检查临床资料进行回顾性分析。结果 21三体综合征主要以单纯软指标异常为主, 其中NT增厚为典型特征。18三体综合征以心脏结构畸形为典型特征, 可合并其他系统畸形。13三体综合征全部表现为多系统畸形。结论产前超声筛查胎儿软指标及结构畸形有助于提高胎儿染色体异常的检出率, 减少染色体异常患儿出生率, 实现优生优育。     

Sequential triage in the first trimester may enhance advanced ultrasound scanning in population screening for trisomy 21.

OBJECTIVE: To design a trisomy 21 screening protocol for sequential triage in the first trimester, and to evaluate whether it reduces the need for advanced ultrasound scanning to such an extent that this could be dealt with by a limited number of well-trained sonographers only. METHODS: Screening results of 31 trisomy 21 affected pregnancies and 16 096 unaffected pregnancies from the first trimester screening program of Algemeen Medisch Laboratorium in Antwerp, Belgium, were used to define high-risk, intermediate-risk and low-risk groups. A serum screening result (age, pregnancy-associated plasma protein-A (PAPP-A) and free beta-human chorionic gonadotropin (beta-hCG)) of >or=1 : 30 and/or a nuchal translucency thickness (NT) measurement of >or= 3.5 mm were classified as high risk. A serum screening result of < 1 : 1000 together with an NT of < 3.5 mm were classified as low risk. Other results were considered intermediate risk, for which further advanced ultrasound screening would be indicated. This protocol was then evaluated prospectively in another population of 13 493 first-trimester pregnancies. RESULTS: Of the total population, 1.9% was identified as being high risk (14 trisomy 21 pregnancies and 222 unaffected pregnancies; prevalence, 1 : 17), 59.6% was identified as being low risk (three trisomy 21 pregnancies and 9615 unaffected pregnancies; prevalence, 1 : 3206) and 38.4% was identified as being intermediate risk (10 trisomy 21 pregnancies and 6190 unaffected pregnancies; prevalence, 1 : 620). A similar distribution was found in the prospective arm of the study. There was no reduction of overall screening performance compared with our current first-trimester combined screening program. The number of intermediate-risk pregnancies was sufficiently low as to enable advanced ultrasound scanning by well-trained sonographers only. CONCLUSION: In population screening for fetal trisomy 21, sequential triage in the first trimester can be achieved using very simple methods. Pregnancies at high or at low risk can be identified easily and the number of pregnancies at intermediate risk can be reduced sufficiently to enable advanced ultrasound scanning by well-trained sonographers only. A prospective study is needed to evaluate the performance of this approach and to compare its results with current combined or integrated screening algorithms.     

Screening for trisomy 21 in monochorionic twins by measurement of fetal nuchal translucency thickness.

OBJECTIVE: To determine whether in screening for trisomy 21 by measurement of fetal nuchal translucency (NT) thickness in monochorionic twin pregnancies it is preferable to use the higher, smaller or average NT. METHODS: We retrospectively examined 769 monochorionic twin pregnancies that had undergone NT screening. The selection criteria were that first, in each pregnancy both fetuses were alive at the 11 to 13 + 6-week scan and second, the fetal karyotype had been determined by prenatal invasive testing or the pregnancy outcome was known. In each pregnancy the risk for trisomy 21 was calculated by a combination of maternal age and fetal NT for crown-rump length (CRL). Three estimates of risk for each pregnancy were made using the higher, smaller and average NT and these were compared for detection and false positive rates. RESULTS: The median maternal age was 33 (range, 16-45) years, the CRL was 62 (range, 45-84) mm and gestational age was 12 (range, 11 to 13 + 6) weeks. Either the fetal karyotype was normal, or phenotypically normal babies were born, in 761 cases. The karyotype was abnormal in eight cases, including six with trisomy 21. The estimated risk using the higher, smaller and average NT was 1 in 300 or more in 6 (100%), 4 (66.7%) and 6 (100%) of the trisomy 21 pregnancies and in 148 (19.4%), 57 (7.5%) and 106 (13.9%) of the normal pregnancies. For a detection rate of 100%, the false positive rates using the higher, smaller and average NT would be 5.1%, 45.9% and 4.2%, respectively. CONCLUSION: In monochorionic twins, effective screening for trisomy 21 is best provided by using the average NT measured in the two fetuses.     

Multicenter study of first-trimester screening for trisomy 21 in 75 821 pregnancies: results and estimation of the potential impact of individual risk-orientated two-stage first-trimester screening.

OBJECTIVES: To evaluate the performance of first-trimester screening for trisomy 21 by a combination of maternal age, fetal nuchal translucency (NT) and maternal serum free beta-human chorionic gonadotropin (beta-hCG) and pregnancy-associated plasma protein-A (PAPP-A). In addition, the potential impact of a new individual risk-orientated two-stage approach to first-trimester screening was examined. METHODS: First-trimester combined screening for trisomy 21 was carried out in 75 821 singleton pregnancies with live fetuses at 11 + 0 to 13 + 6 gestational weeks. The detection and false-positive rates for different risk cut-offs were calculated. To examine the potential impact of an individual risk-orientated two-stage approach to first-trimester screening it was assumed that, after first-trimester combined screening, chorionic villus sampling (CVS) would be performed in all patients with a risk estimate of 1 in 100 or more and in none of those with a risk estimate of less than 1 in 1000. Those in the intermediate-risk category, with a risk estimate of between 1 in 101 and 1 in 1000, would have further assessment of risk by first-trimester ultrasound examination to determine presence/absence of the nasal bone, presence/absence of tricuspid regurgitation or normal/abnormal Doppler velocity waveform in the ductus venosus, and CVS would be performed if their adjusted risk became 1 in 100 or more. RESULTS: Fetal NT and maternal serum free beta-hCG and PAPP-A were successfully measured in all cases. The median maternal age was 31 (range, 13-49) years, the median gestation at screening was 12 (range, 11 + 0 to 13 + 6) weeks and the median fetal crown-rump length was 62 (range, 45-84) mm. Chromosomal abnormalities were identified in 544 pregnancies, including 325 cases of trisomy 21. The estimated risk for trisomy 21 was 1 in 300 or greater in 5.2% of normal pregnancies, in 92.6% of those with trisomy 21, in 88.5% of those with trisomy 18 or 13 and in 85.6% of those with other chromosomal defects. The detection rates for trisomy 21 were about 75% and 80% for respective false-positive rates of 1% and 2%. In the proposed individual risk-orientated two-stage screening for a risk cut-off of 1 in 100 the total false-positive rate would vary with the method used for the second stage of screening from 2.1% for absence of the nasal bone to 2.7% for increased impedance in the ductus venosus and 2.7% for tricuspid regurgitation and the respective detection rates would be 92.0%, 94.2% and 91.7%. CONCLUSIONS: First-trimester combined screening for trisomy 21 is associated with a detection rate of about 90% for a false-positive rate of 5%. Individual risk-orientated two-stage screening for trisomy 21 can potentially identify, in the first trimester of pregnancy, more than 90% of affected fetuses for a false-positive rate of 2-3%.     

21-三体胎儿的孕中期超声检出

目的　探讨产前超声检查在检出 2 1 三体胎儿方面的作用。方法　在孕中期进行超声检查 ,观察胎儿生长发育 ,测量胎儿颈背部皮肤厚度 ,并除外严重胎儿畸形。结果　通过超声检查发现颈背部皮肤增厚 ,于孕 14～ 2 1周检出了 3例 2 1 三体胎儿 ,其中 2例母亲年龄小于 3 5岁 ,且无其他超声异常表现等染色体核型检查适应证。在没有应用这一超声指标进行产前筛查的 6例 2 1 三体病例中 ,母亲年龄小于 3 5岁的 2例被漏诊。结论　应用颈背部皮肤增厚这一超声指标可以提高产前 2 1 三体胎儿检出率 ,特别是母亲年龄小于 3 5岁 ,且不合并严重畸形的病例 ,减少产前漏诊。     

孕早期颈项透明层超声联合孕中期彩色多普勒超声可提高产前胎儿畸形检出率

目的探究孕早期颈项透明层（NT）超声联合孕中期彩色多普勒超声在产前胎儿畸形筛查中的应用价值。方法选择2017年8月~2019年12月在我院行胎儿畸形筛查的2417例孕妇作为研究对象,所有孕妇于孕11~14周行NT超声检查,并于孕22~28周行二维、四维彩超检查。以引产或分娩结果为“金标准”,比较畸形胎儿、正常胎儿的NT值及NT异常率,对比NT超声检查、二维联合四维彩超检查结果,并就NT超声、二维及四维彩超及二者联合在诊断胎儿畸形中的诊断率进行比较。结果2417例孕妇最终确诊异常胎儿88例,发病率为3.64%。畸形胎儿的NT值明显高于正常胎儿,NT异常率（93.18%）明显高于正常胎儿（1.33%）,差异比较有统计学意义（P < 0.05）。NT超声检查共检出异常胎儿82例,诊断准确率为93.18%;二维联合四维彩超共检出异常胎儿85例,诊断准确率为96.59%。二维联合四维彩超的诊断准确率略高于NT超声检查,差异无统计学意义（P>0.05）。NT超声联合二维、四维彩超在诊断胎儿畸形中的敏感度、特异度和准确度分别为100.00%、99.57%、99.59%,高于NT超声、二维和四维彩超（分别为93.18%、98.67%、98.47%和96.59%、99.06%、98.97%）,组间比较差异有统计学意义（P < 0.05）。结论孕早期NT超声及孕中期彩色多普勒超声在产前筛查胎儿畸形上各具有优势,均具有较好的诊断价值。二者联合应用能够进一步提升胎儿畸形的检出率,对尽早终止胎儿畸形孕妇继续妊娠,减少畸形胎儿出生具有重要意义。     

Sonographic screening for fetal aneuploidy: first trimester.

Screening for fetal aneuploidy is now possible during the first trimester using sonographic and biochemical markers. The aim of this review was to summarize the efficacy and use of nuchal translucency in screening for fetal aneuploidy, especially fetal Down syndrome, and other anomalies. We reviewed available literature regarding first‐trimester screening. This includes more than 16 studies of nuchal translucency as a marker for fetal aneuploidy published since 1995. Although early studies showed wide variation in detection of fetal Down syndrome when using nuchal translucency, more recent studies showed sensitivities of approximately 70% to 80%, for a 5% false‐positive rate. Increased nuchal translucency has also been found to be a marker for other aneuploidies, including trisomy 18, trisomy 13, and Turner syndrome. Maternal serum biochemical screening can be used as a test for aneuploidy during the first trimester The 2 maternal serum markers that appear to be most useful in the late first trimester are the free beta subunit of human chorionic gonadotropin and pregnancy‐associated plasma protein A. Together with maternal age, these markers yield a detection rate for trisomy 21 of approximately 60%, for a 5% false‐positive rate. Because sonographic and biochemical markers appear to be largely independent, their combined risk results in improved detection rates compared with either method alone. As a result, the combination of nuchal translucency, biochemical markers, and maternal age has achieved a detection rate of approximately 85%, for a 5% false‐positive level for detection of trisomy 21. A newly proposed "integrated" approach using a panel of first‐ and second‐trimester markers suggests that further improvement in the screening performance is possible. A number of questions regarding first‐trimester screening remain. We address some of these questions: is first‐trimester screening more effective than second‐trimester screening? How to account for intrauterine lethality? Is earlier diagnosis important, and will it be accepted by patients? Is first‐trimester screening cost‐effective? How should first‐trimester screening be interpreted with second‐trimester tests? Despite encouraging data and general enthusiasm for first‐trimester screening for fetal Down syndrome and other aneuploidies, a number of questions remain about its implementation in the United States. Multicenter studies currently under way should help answer some of these questions.     

孕中期血清学筛查、超声、NIPT联合在胎儿染色体异常筛查中的价值

目的探讨孕中期血清学筛查中位数倍数(MoM)低值、超声、无创产前基因检测(NIPT)联合在胎儿染色体异常筛查中的应用价值。方法选择在我院行孕中期筛查的1068例单胎孕妇中筛选出需行羊水染色体核型分析检测的高危孕妇195例,以羊水染色体核型分析检测结果为金标准,分析血清游离绒毛膜促性腺激素β(β-hCG)和甲胎蛋白(AFP)MoM低值、超声、NIPT对胎儿染色体异常的筛查价值。结果195例孕妇行羊水染色体核型分析共检测出染色体异常18例,195例孕妇经超声筛查显示胎儿可能存在染色体异常77例,经NIPT筛查显示高风险24例,经血清学筛查检出AFP MoM值<0.4者64例,经血清学筛查检出游离β-hCG MoM值<0.25者69例。血清学筛查AFP和游离β-hCG MoM低值、超声、NIPT联合检查对胎儿染色体异常筛查价值明显优于各项单独检查(P<0.05)。结论孕中期血清学筛查AFP和游离β-hCG MoM低值、超声、NIPT联合检查对胎儿染色体异常具有较高的检出率,能够准确反映胎儿异常。     

二维超声技术对胎儿腭部显示切面的探讨

目的总结中孕期及晚孕期胎儿腭部超声声像图特征。方法选取孕21～36周产前二维超声和产后检查证实腭部声像正常的1885例胎儿（中孕组1023例,晚孕组862例）的超声图像进行分析。检查中采用经胎儿颌下、口裂、耳前连续区域显示腭冠状切面,经口裂显示腭纵切面,连续完整显示胎儿正常腭部并统计显示率。结果产前超声经胎儿颌下、口裂至耳前区域腭冠状切面扫查两组胎儿正常硬腭显示为横带状强回声,正常软腭显示为横带状低回声;中孕组、晚孕组胎儿腭部超声显示率分别为76％（777／1023）、53％（458／862）;经口裂腭纵切面扫查胎儿正常腭部显示为连续弧形带状回声：中孕组、晚孕组胎儿腭部超声显示率分别为49％（501／1023）、13％（113／862）。冠状切面与纵切面联合扫查中孕组胎儿腭部超声显示率为94％（961／1023）,晚孕组胎儿腭部超声显示率为56％（483／862）。结论中孕期胎儿存在明显的下颌骨软骨间隙,经胎儿颌下、口裂、耳前区域腭冠状切面及经口裂腭纵切面扫查不受胎头屈曲位置影响,二维超声可较完整显示胎儿腭部声像,有助于检出单纯性继发腭裂。但由于成像过程依赖于操作者的技术和手法,尚不能作为常规筛查方法。     

Screening for trisomy 21 by fetal tricuspid regurgitation, nuchal translucency and maternal serum free beta-hCG and PAPP-A at 11 + 0 to 13 + 6 weeks.

OBJECTIVE: To examine whether in pregnancies with fetal trisomy 21 the level of maternal serum free beta-human chorionic gonadotropin (beta-hCG) and pregnancy-associated plasma protein-A (PAPP-A) at 11 + 0 to 13 + 6 weeks' gestation is independent of the presence or absence of tricuspid regurgitation and to estimate the performance of a screening test that combines tricuspid regurgitation with fetal nuchal translucency (NT) thickness and serum free beta-hCG and PAPP-A. METHODS: The study population comprised 77 trisomy 21 and 232 chromosomally normal fetuses from singleton pregnancies at 11 + 0 to 13 + 6 weeks of gestation. In all cases the fetal karyotype was determined by chorionic villus sampling (CVS), which was carried out at the request of the parents after first-trimester screening for trisomy 21 by fetal NT and maternal serum free beta-hCG and PAPP-A. Immediately before chorionic villus sampling, fetal echocardiography was performed and the presence or absence of tricuspid regurgitation was determined by pulsed wave Doppler ultrasonography.The distribution of fetal NT, maternal serum free beta-hCG and PAPP-A in trisomy 21 fetuses with absent and present tricuspid regurgitation was examined. We examined two screening strategies: first, integrated first-trimester screening in all patients and second, first-stage screening of all patients using fetal NT and maternal serum free beta-hCG and PAPP-A followed by second-stage assessment of tricuspid regurgitation only in those with an intermediate risk of 1 in 101 to 1 in 1000 after the first stage. RESULTS: Tricuspid regurgitation was observed in 57 (74.0%) of the trisomy 21 fetuses and in 16 (6.9%) of the chromosomally normal fetuses. There were no significant differences in median maternal age, median gestational age, free beta-hCG multiples of the median (MoM) and PAPP-A MoM in trisomy 21 fetuses with and without tricuspid regurgitation. The modeled detection rates of trisomy 21 for fixed false positive rates of 1%, 2% and 5% in screening by maternal age, fetal NT thickness and maternal serum free beta-hCG and PAPP-A and assessment of tricuspid flow in all cases were 87%, 90% and 95%. In the two-stage approach, the estimated detection rate was 91% and the false positive rate was 2.6%. CONCLUSIONS: There is no relationship between tricuspid regurgitation and the levels of maternal serum free beta-hCG and PAPP-A in cases with trisomy 21. An integrated sonographic and biochemical test at 11 + 0 to 13 + 6 weeks can potentially identify about 90% of trisomy 21 fetuses for a false-positive rate of 2-3%.