The accuracy of first trimester ultrasound in the diagnosis of hydatidiform mole.

OBJECTIVE: Previous studies have examined ultrasound findings in histopathologically confirmed cases of hydatidiform mole. The aim of this study was to assess the first-trimester ultrasonographic findings in all women suspected of having hydatidiform mole on ultrasound and those subsequently diagnosed with hydatidiform mole after histological examination of removed products of conception after surgical evacuation of the uterus. The aim was to obtain a true sensitivity and positive predictive value for ultrasound in the diagnosis of hydatidiform mole. METHODS: A retrospective analysis was performed of all cases of sonographically suspected hydatidiform mole and histologically proven hydatidiform mole presenting to the Early Pregnancy Unit of an inner city hospital over a 4-year period. The sensitivity and positive predictive value (PPV) of ultrasound in the detection of histologically proven hydatidiform mole was calculated. RESULTS: The study group consisted of 90 women; 56 were suspected of having hydatidiform mole on ultrasound, and of these 27 (48%) had hydatidiform mole confirmed after histopathological examination of the products of conception, while no changes suggestive of hydatidiform mole were present in the other 29 cases. Overall, 61 women had hydatidiform mole confirmed on histology-41 (67%) partial hydatidiform moles (PHM) and 20 (33%) complete hydatidiform moles (CHM). The ultrasound findings in the 34 cases not suspected of hydatidiform mole were an empty sac in 8/34 (24%) women and a delayed miscarriage in the other 26/34 (76%). The overall sensitivity and positive predictive value for the ultrasound diagnosis of hydatidiform mole was 44% and 48%, respectively. For PHMs the respective values were 20% and 22% and for CHMs they were 95% and 40%. CONCLUSION: Ultrasonography is more reliable for diagnosing CHMs than for PHMs. Overall, the sensitivity of ultrasound for accurately predicting hydatidiform mole is 44%, and one in two women with an abnormal scan will have the disease confirmed on histology.     

经阴道彩色多普勒超声辐照对人早孕绒毛细胞凋亡的影响

目的探讨诊断用经阴道彩色多普勒超声(TVCD)辐照人早孕孕囊一定时间后对人绒毛细胞凋亡率的影响,以期为TVCD在产科的安全应用提供支持依据。方法采用流式细胞仪检测经不同辐照时间及辐照后不同时间取材的绒毛细胞进行凋亡率的分析。结果对照组偶见散在的早期凋亡细胞,早期凋亡率极低;照射各组绒毛细胞的早期凋亡率随着辐照时间的延长而增高;但随着时间的推移(72h后),绒毛细胞早期凋亡率下降至正常范围。结论TVCD辐照人早孕绒毛尽管能造成早孕绒毛细胞凋亡,凋亡率随着辐照时间的延长而增高,但这种早孕绒毛细胞凋亡在一定超声辐照范围内可以恢复到正常范围。     

Molecular genetic testing from paraffin-embedded tissue distinguishes nonmolar hydropic abortion from hydatidiform mole.

BACKGROUND: Diagnosis of hydatidiform mole by histology and ploidy analysis is limited by overlap of criteria for nonmolar hydropic abortion, complete mole, and partial mole. With early presentation, diagnosis is difficult due to limited tissue and lack of clinical features. Accurate diagnosis of these entities is important for both prognosis and patient management. We assessed a polymerase chain reaction (PCR) assay for polymorphic short tandem repeats (STR) for discrimination between nonmolar hydropic abortion, complete mole, and partial mole based on the genetic composition of molar pregnancies. METHODS: Seventeen cases of products of conception (POC) diagnosed by histology and flow cytometry ploidy analysis were studied retrospectively. PCR was performed using maternal and chorionic villus DNA extracted from microdissected, formalin-fixed, paraffin-embedded tissue sections. Allelic patterns for up to eight well-characterized polymorphic STR loci were determined using the GenePrint Fluorescent STR System (Promega Corporation, Madison, WI). The presence of three villus alleles at a single locus was interpreted as partial mole. Detection of only one allele in the villi, different from all maternal allele(s) at the same locus, was interpreted as a complete mole. RESULTS: This technique identified eight complete moles previously diagnosed as complete mole (3), hydatidiform mole, otherwise unspecified (1), hydropic villi (2), hydropic villi versus partial mole (1), and partial mole (1). The diagnoses of five partial moles by the molecular assay were consistent with the diagnoses by histology and flow cytometry. One nonmolar gestation was identified, which had been diagnosed previously as hydropic villi. In three cases, maternal DNA amplification was insufficient for definitive diagnosis. CONCLUSION: Molecular genetic testing of POC from paraffin-embedded tissue accurately distinguishes complete mole, partial mole, and nonmolar hydropic abortion. Identification of triploidy by flow cytometry can confirm a histological impression of partial mole. Histological and ploidy analysis of POC results in underdiagnosis of complete moles.     

孕早期超声筛查胎儿结构畸形的循证病案讨论

目的循证探讨1例孕早期（孕11～14周）超声筛查胎儿结构畸形是否有效。方法针对孕早期是否可进行超声筛查胎儿结构畸形的问题,全面检索Cochrane图书馆（2008年第4期）、MEDLINE（1981～2008）、OVID ACP Journal Club（1991～2008）、BMJ Clinical Evidence（1999～2008）,获取并评价相关系统评价、随机对照试验、临床对照试验证据,并将最佳证据用于临床实践。结果从Cochrane图书馆检索到系统评价3篇、随机对照试验5篇、队列研究9篇。结果显示：产前各孕期的超声检查能够发现不同类型的胎儿结构畸形,但不能发现所有胎儿结构畸形;在孕11～14周超声测量胎儿颈部透明层厚度,可显示胎儿主要的系统器官结构,从而探查部分胎儿结构畸形和筛查胎儿染色体畸形高危人群,尽早临床决策;孕早期超声筛查胎儿畸形不能取代孕中期筛查,两者联合可较好地筛查胎儿畸形。目前并无证据表明孕早期超声筛查会影响胎儿发育及出生后生长发育。结论对孕11～14周孕妇进行超声筛查胎儿结构畸形有效。     

The diagnostic implications of routine ultrasound examination in histologically confirmed early molar pregnancies.

OBJECTIVE: Early ultrasound examination is being used increasingly in the diagnosis of molar pregnancy. The aim of this study was to examine the diagnostic implications of routine ultrasound examination for histologically confirmed molar pregnancies. METHODS: This was a retrospective review of sonographic and histological findings in a series of consecutive cases referred to the National Trophoblastic Disease Surveillance Centre with suspected molar pregnancies. In 194 cases referred to the center over a 6-month period in whom results of a preceding ultrasound examination were documented, review of ultrasound findings and final histological diagnosis was carried out. RESULTS: There were 155 cases with a reviewed histological diagnosis of complete or partial hydatidiform mole. In 131 (67%) cases, the sonographic diagnosis was that of a missed miscarriage/anembryonic pregnancy with no documented suspicion of molar pregnancy, referral being on the basis of histological examination of products of conception. In 63 cases, ultrasound examination suggested molar pregnancy; in 53 (84%) of these, the diagnosis of molar pregnancy was correct. Overall, 37 of 64 (58%) complete moles had sonographic evidence of molar pregnancy compared to 16 of 91 (17%) partial moles. Of 155 histologically confirmed complete or partial hydatidiform moles, only 53 (34%) were suspected as molar sonographically. CONCLUSION: The majority of cases of molar pregnancy now present as missed miscarriage/anembryonic pregnancy sonographically, highlighting the importance of histological examination to diagnose gestational trophoblastic disease.     

Examination of fetal nasal bone and repeatability of measurement in early pregnancy.

OBJECTIVE: To evaluate the examination and measurement of fetal nasal bone at 10-14 weeks of gestation. METHODS: The study included 501 fetuses in 496 consecutive pregnant women attending for the routine first-trimester ultrasound examination. The presence or absence of the fetal nasal bone was determined in the mid-sagittal plane and the length was measured by one of four examiners (measurement A; n = 501). A second measurement was taken by the same examiner (B, n = 300) and a different examiner repeated the measurement (C, n = 200) whenever possible. Measurements were made to the nearest 0.1 mm. The duration of one hundred consecutive examinations was recorded, as was that of another 100 consecutive routine first-trimester examinations without measuring the nasal bone. RESULTS: The median nasal bone length was 1.6 (0.8-2.4) mm, the median gestational age was 12 (10-14) weeks and the median crown-rump length (CRL) was 63 (32-90) mm. The fetal profile was examined in all 501 cases and the fetal nasal bone was present in all but one case (99.8%). No transvaginal scans were needed for the examination of nasal bone only. The average time for the sonographic examination (8.3 min) was not significantly different from the average time for first-trimester scans in which the fetal nasal bone was not measured (8.0 min). The fetal nasal bone length increased from 1.1 mm at a CRL of 35 mm to 2.1 mm at a CRL of 90 mm (nasal bone = 0.016 x CRL + 0.619, P < 0.001, r = 0.655). The repeatability coefficient for intraobserver measurements was 0.080 mm and the coefficient for interobserver measurements was similar (0.083 mm). CONCLUSIONS: The nasal bone can be detected from 10 weeks of gestation onwards. Consistent visualization and repeatable measurement of fetal nasal bone can be performed by an experienced sonographer in the first trimester without extending the length of time required for scanning or introducing the need for transvaginal sonography.     

超声诊断11～14孕周露脑-无脑畸形序列的临床意义

目的探讨11～14孕周超声诊断露脑-无脑畸形序列的价值,避免诊断中的潜在陷阱。方法回顾性分析2004年1月～2006年9月11～14孕周超声诊断的6例露脑畸形、2无脑畸形的胎儿资料,并与同期中孕期超声诊断并经引产证实的13例无脑畸形的结果进行比较,重新审定11～14孕周的超声诊断结果,建立孕早期超声诊断标准。结果11～14孕周超声诊断的6例露脑畸形,均经引产证实;无脑畸形2例,引产证实1例为露脑畸形,1例为无脑畸形。中孕期超声诊断及引产证实的13例无脑畸形,其中3例在11～14孕周超声检查时未发现异常。结论超声能在11～14孕周诊断露脑-无脑畸形序列。胎儿头部冠状切面和横切面未见钙化的额顶骨是诊断的要点。大脑组织是否残存,是鉴别露脑畸形和无脑畸形的关键。     

Frequency and type of adnexal lesions in autopsy material from postmenopausal women: ultrasound study with histological correlation.

OBJECTIVE: To determine the prevalence and histology of adnexal cysts in autopsy material from postmenopausal women. METHODS: The study included 104 adnexa from 52 consecutive women with a mean age of 79 (range, 64-96) years, who underwent autopsy and died from causes other than gynecological cancer or intraperitoneal cancer of extragenital origin. The adnexa were removed, put in sterile saline in separate plastic containers and examined sonographically using an 8-MHz transvaginal transducer. Each lesion detected at ultrasound examination was measured with calipers on the frozen ultrasound image and was classified according to its ultrasound morphology. The adnexa were then put in 4% formaldehyde solution and sent for histological examination. RESULTS: At ultrasound examination, 56% (29/52) of the women had adnexal lesions, cysts being detected in 54% (28/52) and solid lesions in 12% (6/52). At least one adnexal cyst with a largest diameter of 2-10 mm, > 10 mm, > 20 mm, > 30 mm and > 40 mm, respectively, was found in 33% (17/52), 21% (11/52), 12% (6/52), 8% (4/52) and 4% (2/52) of the women. The largest lesion measured 65 mm in diameter. At ultrasound examination we found 36 intra-ovarian cysts (26 inclusion cysts, three cystically degenerated corpora albicantia, five simple cysts, one serous cystadenoma and one 3-mm cyst not confirmed by the pathologist), 19 extra-ovarian cysts (all simple cysts according to the pathologist), five solid intra-ovarian lesions (two fibromas, one cystadenofibroma, one Brenner tumor and one case of dystrophic calcification), and one solid extra-ovarian lesion (fibroma). In addition, the pathologist detected one 20-mm solid corpus albicans, eight extra-ovarian simple cysts of 1-8 mm, and 77 intra-ovarian inclusion cysts of 1-4 mm. CONCLUSION: Small (< or = 50 mm) benign adnexal cysts and small benign solid tumors are so common in postmenopausal women that their presence may be regarded as normal. Our results support conservative management of adnexal lesions with benign ultrasound morphology incidentally detected at ultrasound examination in postmenopausal women.     

The examiner's ultrasound experience has a significant impact on the detection rate of congenital heart defects at the second-trimester fetal examination.

OBJECTIVES: To determine whether training and experience in performing ultrasound examinations are factors that influence the prenatal detection of congenital heart defects (CHDs) in a non-selected population, in order to evaluate and improve the current training program. METHODS: All pregnant women who received a routine second-trimester ultrasound scan by a sonographer/midwife and delivered at our hospital between February 1991 and December 2001 were registered prospectively. Less experienced sonographer/midwives who had performed between 200 and 2000 routine examinations were compared with experienced sonographer/midwives who had carried out more than 2000 examinations. During the first 5 years of the study the heart structures obtained were registered in detail. RESULTS: Of 29,035 fetuses, 35/82 (43%) major CHDs were prenatally detected at the routine examination. The experienced sonographer/midwives obtained both the four-chamber view and the great arteries in 75%; the figure for the less experienced sonographer/midwives was 36% (P < 0.001). The differences in detecting major heart defects were 22/42 (52%) and 13/40 (32.5%), isolated CHDs 8/18 (44%) and 6/22 (27%) and CHDs with associated malformations 14/24 (58%) and 7/18 (39%), respectively. In both groups some CHDs with an abnormal four-chamber view were missed, although the experienced sonographer/midwives recognized significantly more of the abnormal views than did the less experienced sonographer/midwives (P = 0.002). CONCLUSIONS: Experience has a significant impact on the examination of the fetal heart and the prenatal detection rate of major CHDs. To avoid a relatively long learning curve, ultrasound education needs to intensify the teaching of the basic four-chamber view. The great arteries should be included after additional training. Those basic views of the fetal heart must be mastered before new views and advanced technology are added to the fetal heart examination.     

Molecular Genotyping of Hydatidiform Moles: Analytic Validation of a Multiplex Short Tandem Repeat Assay

Distinction of hydatidiform moles from non-molar (NM) specimens, as well as their subclassification as complete (CHM) versus partial hydatidiform moles (PHM), is important for clinical management and accurate risk assessment for persistent gestational trophoblastic disease. Because diagnosis of hydatidiform moles based solely on morphology suffers from poor interobserver reproducibility, a variety of ancillary techniques have been developed to improve diagnosis. Immunohistochemical assessment of the paternally imprinted, maternally expressed p57 gene can identify CHMs (androgenetic diploidy) by their lack of p57 expression, but cannot distinguish PHMs (diandric monogynic triploidy) from NMs (biparental diploidy). Short tandem repeat genotyping can identify the parental source of polymorphic alleles and thus discern androgenetic diploidy, diandric triploidy, and biparental diploidy, which allows for specific diagnosis of CHMs, PHMs, and NMs, respectively. In this study, a retrospectively collected set of morphologically typical CHMs (n = 8), PHMs (n = 10), and NMs (n = 12) was subjected to an analytic validation study of both short tandem repeat genotyping and p57 immunohistochemistry. Several technical and biological problems resulted in data that were difficult to interpret. To avoid these pitfalls, we have developed an algorithm with quantitative guidelines for the interpretation of short tandem repeat genotyping data.Distinction of hydatidiform moles (HM) from non-molar (NM) specimens and the subclassification of HMs as complete hydatidiform mole (CHM), partial hydatidiform mole (PHM), or early CHM are important for both clinical practice and investigational studies. The risk of persistent gestational trophoblastic disease and hence, clinical management of patients, differs for CHMs, PHMs, and NMs.^1,2,3,4,5 However, diagnosis of HMs based solely on morphology suffers from poor interobserver reproducibility.^6,7 Even among experienced pathologists, high interobserver and intraobserver variability exist.⁸The unique genetic features of CHMs, PHMs, and NMs can be exploited to improve diagnosis of HMs. CHMs are most often diploid with both chromosomal complements being paternal in origin (androgenetic diploidy), whereas PHMs are triploid with one maternal chromosome complement and two paternal chromosome complements (diandric triploidy). NMs are typically diploid with one maternal and one paternal chromosome complement (biparental diploidy); some NMs can be triploid due to two maternal and one paternal chromosome complement (digynic triploidy) but these specimens do not have the morphological features of PHMs.^9,10A variety of ancillary techniques targeting these genetic differences have been used to improve diagnosis of HMs. These include formal cytogenetic analysis (karyotyping), determination of ploidy by flow cytometry,^11,12,13 fluorescent in situ hybridization,^14,15 PCR amplification of short tandem repeat (STR) loci,^16,17,18,19 and immunohistochemistry for the paternally imprinted gene p57.^18,20 Most of these techniques, including karyotyping and ploidy analyses, have limitations beyond the known technical and interpretive difficulties in that they cannot specifically discern the maternal and paternal chromosomal contributions in a specimen. Thus, while diploid and triploid specimens can be identified to improve both recognition of PHMs and distinction of PHMs from CHMs, CHMs (particularly the morphologically subtle early forms) cannot be distinguished from NMs (both yield nonspecific diploid results), and PHMs cannot be distinguished from digynic triploid NMs (both yield nonspecific triploid results). CHMs (including early forms) can be distinguished from PHMs and NMs by immunohistochemical assessment of expression of the paternally imprinted p57 gene. CHMs are characterized by lack of p57 expression in villous stromal cells and cytotrophoblast due to the lack of maternal DNA. However, p57 immunohistochemistry cannot distinguish PHMs from NMs since both retain expression of p57 due to the presence of maternal DNA.Molecular genetic analysis of the type provided by STR genotyping offers greater diagnostic discriminatory capability than these other techniques in that CHMs, PHMs, and NMs can be specifically distinguished from one another based on identification of the parental source of polymorphic alleles and their ratios. In particular, this analysis can discern androgenetic diploidy, diandric triploidy, and biparental diploidy to rigorously diagnose and distinguish CHMs, PHMs, and NMs, respectively. Such analysis is particularly important for the diagnosis of PHMs, which continue to pose diagnostic difficulty and cannot be distinguished from NMs, especially those exhibiting abnormal villous morphology of the type associated with other (non-molar type) genetic abnormalities, due to shared p57 expression patterns.²¹Several studies have demonstrated the proof of concept and utility of STR genotyping for distinction of CHMs, PHMs, and NMs.^16,17,19 However, none of these reports provides a technical validation that includes specific details regarding how STR data were interpreted, criteria for accepting or rejecting data, and sources of technical and interpretive problems. In the current report we have used a set of retrospective, morphologically typical cases of HMs and NMs to develop an algorithm for the interpretation of STR genotyping data, including specific quantitative criteria for interpretation of results. To fully validate the utility of both STR genotyping and p57 immunohistochemistry and to implement these ancillary tests into routine clinical practice, this algorithm was then applied prospectively to all cases encountered on the Johns Hopkins Gynecologic Pathology Service for which a diagnosis of hydatidiform mole was considered (overwhelmingly morphologically challenging consultation cases); this prospective analysis is described in a separate report.²²     

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。     

The sagittal sign. An early second trimester sonographic indicator of fetal gender

The sagittal sign for sonographic prediction of fetal gender in the early second trimester is described and its sensitivity and accuracy evaluated. One hundred eighty-four ultrasound examinations with gestational ages between 10 weeks and 20.5 weeks were performed in 165 patients over a three month period. Of the 165 patients included in this prospective study, the gender of the fetus in 105 patients was known as a result of amniocentesis or chorionic villus sampling. These 105 patients with known results were used to compare gender prediction based on conventional views with prediction based on the sagittal sign. The results of this study reveal the superiority of the sagittal view for predicting gender in the gestational age group of 14 weeks to 20.5 weeks.     

Routine pre-evacuation ultrasound diagnosis of hydatidiform mole: experience of more than 1000 cases from a regional referral center.

OBJECTIVES: To examine the accuracy of sonographic findings of routine ultrasound examinations in patients with a proven histological diagnosis of complete or partial hydatidiform mole referred to a supra-regional referral center, and to examine the relationship of sonographic findings to gestational age across the first and early second trimesters. METHODS: Review of consecutive cases referred to a trophoblastic disease unit from June 2002 to January 2005 with a diagnosis of possible or probable hydatidiform mole in whom results of a pre-evacuation ultrasound examination were documented. Ultrasound detection rates for partial and complete hydatidiform moles were calculated and comparison of detection rates between complete and partial mole, and gestational age groups carried out. RESULTS: 1053 consecutive cases were examined. The median maternal age was 31 (range, 15-54) years and the median gestational age was 10 (range, 5-27) weeks. 859 had a final review diagnosis of partial or complete hydatidiform mole (82%), including 253 (29%) complete moles and 606 (71%) partial moles. Non-molar hydropic miscarriage was diagnosed following histological review in 194 (18%). Overall, 378 (44%) cases with a final diagnosis of complete or partial hydatidiform mole had a pre-evacuation ultrasound diagnosis suggesting hydatidiform mole, including 200 complete moles and 178 partial moles, representing 79% and 29%, respectively, of those with complete (253) or partial (606) moles in the final review diagnosis. The ultrasound detection rate was significantly better for complete versus partial hydatidiform moles (Z = 13.4, P < 0.001). There was a non-significant trend towards improved ultrasound detection rate with increasing gestational age, with an overall detection rate of 35-40% before 14 weeks' gestation compared to around 60% after this gestation. The sensitivity, specificity, positive predictive value and negative predictive value for routine pre-evacuation ultrasound examination for detection of hydatidiform mole of any type were 44%, 74%, 88% and 23%, respectively. CONCLUSIONS: Routine pre-evacuation ultrasound examination identifies less than 50% of hydatidiform moles, the majority sonographically appearing as missed or incomplete miscarriage. Detection rates are, however, higher for complete compared to partial moles, and improve after 14 weeks' gestation. Histopathological examination of products of conception remains the current gold standard for the identification of gestational trophoblastic neoplasia.     

超声与MRI诊断胎儿前脑无裂畸形的比较

目的探讨胎儿前脑无裂畸形的超声类型及其声像图特征。方法收集超声诊断为前脑无裂畸形胎儿及部分接受MRI检查胎儿的完整资料,与产后新生儿特殊检查或引产后尸体解剖及病理检查结果相比较,分析总结其超声类型及声像图特征。并对其绒毛、羊水或脐血染色体检查结果进行分析,新生儿随访至出生后6个月,追踪其预后。结果本组82 777例胎儿(82 773例孕妇)中超声共检出68例前脑无裂畸形,前脑无裂畸形检出率为8.2/10 000(68/82 777);漏诊及误诊各1例叶状前脑无裂畸形(产后新生儿头颅彩超核实),超声诊断前脑无裂畸形的诊断符合率97.1%(68/70)。其中14例于孕10+¹3+周行超声检查时检出,54例于孕16+13+周行超声检查时检出,54例于孕16+⁴0周行常规超声检查时检出。39例胎儿接受MRI检查,MRI诊断无叶前脑无裂畸形11例、半叶前脑无裂畸形19例、叶状前脑无裂畸形6例,漏诊3例叶状前脑无裂畸形,MRI诊断前脑无裂畸形的诊断符合率为92.3%(36/39),与超声比较,差异无统计学意义(χ2=0.96,0.25相似文献   

孕11～14周胎儿三尖瓣频谱测量与分析

目的 探讨胎儿早孕期检测三尖瓣频谱的临床价值和方法.方法 对孕11～14周胎儿进行超声检查,测量头臀长、颈部透明层、三尖瓣频谱等,并观察胎儿头颅、躯干、四肢等结构以发现严重胎儿畸形.对所有胎儿进行孕期超声检查、唐氏综合征筛查,可疑者进一步行染色体检查,并随访至出生后6个月.结果 共检查早孕期胎儿262例,其中249例成功获得三尖瓣频谱,检查成功率95%.发现三尖瓣反流胎儿9例,其中2例为21-三体,3例为严重心脏结构异常,1例合并脐疝,2例胎死宫内,1例染色体正常者随访至生后8个月未发现异常.结论 早孕期胎儿三尖瓣频谱测量简易可行,三尖瓣反流是胎儿染色体异常、严重心脏结构异常及不良预后的有效预测指标.

Abstract：

Objective To investigate the clinical value and method of fetal tricuspid regurgitation in the first trimester.Methods Fetuses were performed ultrasonography at 11 to 14 gestational weeks,measuring crown rump length,nuchal translucency and acquiring tricuspid waveform.All the fetuses were followed up until 6 months after birth,including prenatal ultrasound examination,maternal serum biochemistry and karyotype test.Results A total of 262 fetuses were performed ultrasonography in the first trimester,the tricuspid waveform were acquired successfully in 249 (95%).Nine cases with tricuspid regurgitation were detected,including 3 cases of trisomy 21,3 cases with complex heart defects,one case with omphalocele,two resulted in intrauterine death and one case of normal chromosome and phenotype.Conclusions Tricuspid waveform is relatively easier to examine and assessment.Tricuspid regurgitation is a useful first-trimester ultrasound marker for the detection of chromosomal abnormalities,cardiac defects,and adverse pregnancy outcome.     

Comparison of nuchal and detailed morphology ultrasound examinations in early pregnancy for fetal structural abnormality screening: a randomized controlled trial.

OBJECTIVE: To compare the effectiveness of a nuchal scan at 10 to 14 + 6 weeks and a detailed morphology scan at 12 to 14 + 6 weeks in screening for fetal structural abnormalities. METHODS: From March 2001 to November 2004, 8811 pregnant women were randomized into either the control group (10 to 14 + 6-week nuchal scan followed by routine 16-23-week scan) or the study group (10 to 14 + 6-week nuchal scan and 12 to 14 + 6-week detailed scan followed by routine 16-23-week scan). RESULTS: We analyzed 7642 cases of singleton pregnancies with viable fetuses at first-trimester ultrasound examination and with known pregnancy outcome. In the control group, the detection rate of structural abnormalities in the first trimester was 32.8% (21/64; 95% CI, 21.6-45.7%) and the overall detection rate was 64.1% (41/64; 95% CI, 51.1-75.7%). In the study group, the detection rate in the first trimester was 47.6% (30/63; 95% CI, 34.9-60.6) and the overall detection rate was 66.7% (42/63; 95% CI, 53.7-78.0%). The overall detection rate in the control group did not differ significantly from that in the study group (P > 0.05). CONCLUSIONS: When the nuchal scan is offered, a basic anatomical survey can be done in conjunction with nuchal translucency thickness measurement. A detailed ultrasound examination at this early gestational age may not be superior to the nuchal scan in screening for fetal abnormalities in the low-risk population. Though a wide range of abnormalities can be detected at 10 to 14 + 6 weeks, the routine 16-23-week scan cannot be abandoned.     

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.     

Fetal lateral ventricular ratio determination during the second trimester

Ventriculomegaly may be diagnosed sonographically by identifying abnormal ventricular size. The lateral ventricular ratio (LVR) is a useful index in differentiating normal-sized ventricles from ventriculomegaly. The purpose of this study was to validate previously reported data establishing the normal range for LVR during the second trimester. Prior to 24 weeks, the diagnosis of ventriculomegaly may be difficult since the LVR normal range is quite large. The LVRs for 122 normal fetal ultrasound examinations were calculated based on measurements obtained by three observers. Data were obtained for fetuses during each week of gestation from 15 to 25 weeks. Lateral ventricular ratios varied from 56 +/- 18 per cent (mean +/- 2 standard deviations) at 15 weeks to 33 +/- 4 per cent at 25 weeks. The lateral ventricular width (LVW) range for normal fetuses was 0.7 to 1.1 cm as compared with a LVW range of 1.1 to 2.7 cm for 16 fetuses with hydrocephalus diagnosed during the second trimester. In conclusion, the LVR is extremely useful in differentiating ventriculomegaly from normal ventricular size. Serial ultrasound examinations are often mandatory in the second trimester in order to definitely identify ventriculomegaly. In addition, normal ventricular size may be verified with a LVW of less than 1.1 cm.     

超声探测颈项透明层检测早期胎儿异常

目的评价超声探测颈项透明层在检出早期胎儿异常方面的作用。方法于孕11～14周测量胎儿颈项透明层厚度，并随诊观察。结果通过超声探测共检出52例颈项透明层增厚的胎儿，其中6例非整倍体染色体异常的胎儿，7例正常染色体但随诊发现严重并发症的胎儿，与颈项透明层增厚但染色体及预后正常的胎儿相比，上述异常胎儿在于孕11～14周时的颈项透明层显增厚(平均厚度6．8mm对3．5mm)，且大多数进展为妊娠中期时的颈部水肿，并合并其他超声异常。结论超声测量颈项透明层厚度能早期有效地检出异常胎儿及合并其他严重并发症的胎儿，且超声随诊观察颈项透明层厚度的变化对于鉴别诊断及评价预后有很大帮助。     

Lysosomal enzyme activities in fresh and frozen chorionic villi and in cultured trophoblasts

Fifteen lysosomal enzyme activities were compared in 14 presumed normal chorionic villus specimens that were each divided, processed and analyzed as fresh tissue, tissue frozen for 1 week, and cultures established from minced whole villi. Most of the activities determined in the chorionic villus tissue were not affected significantly by freezing. However, activities for most enzymes were significantly different from those determined in the cultured cells. Our experience with first trimester prenatal evaluations for several lysosomal disorders showed that the limited amount of tissue obtained is not always sufficient for thorough analysis and thus, cultured trophoblasts derived from the tissue specimen should also be examined. The results of this study stress the importance of using appropriate tissue-type and cell-type controls to establish the normal range in the respective analyses.