Three‐Dimensional Fast Acquisition With Sonographically Based Volume Computer‐Aided Analysis for Imaging of the Fetal Heart at 18 to 22 Weeks' Gestation

Objective. The purpose of this study was to determine how frequently cardiac images derived from 3‐dimensional (3D) volume sets, acquired by fast acquisition and evaluated with sonographically based volume computer‐aided analysis (sonoVCAD), were satisfactory for prenatal screening at 18 to 22 weeks' gestation. Methods. A prospective study of 100 women with singleton pregnancies was undertaken. Three fast acquisition 3D volume sets were obtained from each patient. Four reviewers independently evaluated the 4‐chamber and 5 extracted VCAD views. Factors contributing to unsatisfactory screening were also evaluated. Results. The frequency with which adequate views for cardiac screening could be obtained varied widely; some single views, such as that of the stomach, were well seen frequently, whereas others, such as the ductal arch, were well seen significantly less frequently (P < .05). A satisfactory screening examination, defined as a visualized 4‐chamber, left ventricular outflow tract, right ventricular outflow tract, and axial stomach view, was obtained for 43% to 65% of patients (dependent on reviewer). Logistic regression revealed that obesity (odds ratio, 3.0; 95% confidence interval, 1.7–5.0) and a fetus with the spine toward the maternal abdomen (odds ratio, 1.7; 95% confidence interval, 1.1–2.5) were independently associated with an unsatisfactory screening examination Conclusions. Three‐dimensional fast acquisition volumes evaluated with sonoVCAD did not allow a satisfactory fetal cardiac screening examination to be obtained a high percentage of the time in a general obstetric population during the second trimester. Certain patient factors, such as body habitus and fetal position, are associated with unsatisfactory 3D imaging.     

Prenatal Screening for Major Congenital Heart Disease

Objective. The purpose of this study was to determine the relative importance of the 4‐chamber view (4CV) compared with the outflow tract views (OFTVs) in prenatal screening for major congenital heart disease (CHD). Methods. We prospectively evaluated 200 consecutive infants undergoing cardiac surgery at our institution for major CHD. By reviewing the infants' medical records and conducting bedside interviews with their parents or guardians, we evaluated detection rates both prenatally and postnatally (before and after discharge to home), and we noted any prenatally identifiable risk factors for CHD. For each infant, we determined whether the 4CV or OFTVs would be expected to have been normal or abnormal on routine midgestation screening fetal sonography. Results. A prenatal diagnosis of CHD was made in 65 infants (33%): 30 of 124 low‐risk pregnancies (24%) and 35 of 76 high‐risk pregnancies (46%). An abnormal screening midgestation 4CV would have been expected in up to 63% of the infants, whereas abnormal midgestation OFTVs would have been expected in up to 91% of the infants. Thus, the potential sensitivity for detecting major CHD was higher with the OFTVs than with the 4CV (91% versus 63%; P < .001). Moreover, the OFTVs were more sensitive than the 4CV for detecting ductal‐dependent forms of CHD. Diagnosis after discharge to home occurred in 39 of 135 postnatal diagnoses (29%), including many cases of isolated outflow tract abnormalities requiring early invasive intervention. Conclusions. Cases of major neonatal CHD with OFTV abnormalities predominate over cases with 4CV abnormalities, particularly among those forms of CHD requiring early invasive intervention.     

中、晚孕期超声筛查13-三体的临床价值

目的 探讨中、晚孕期超声筛查13-三体的临床价值。方法 对妊娠中期和中晚期有产前诊断指征的3297名孕妇行羊膜腔穿刺术和脐带穿刺术检查染色体核型,比较不同指征孕妇的13-三体检出率,并分析13-三体与超声表现异常的关系。结果 接受羊膜腔穿刺术和脐带穿刺术的3297名孕妇中,检出13-三体3胎,检出率为0.09%。3297名孕妇中单纯超声表现异常226名,检出13-三体2胎,检出率为0.88%。单纯超声表现异常的13-三体检出率(0.88%)明显高于唐氏综合征高危指征(P=0.001)。结论 中、晚孕期超声筛查有助于检出13-三体胎儿,具有重要临床价值。     

Fetal and genetic aspects of congenital heart disease

Fetal cardiology includes the assessment of the fetal heart for congenital heart disease (CHD) and arrhythmias, the management of affected fetuses, including parental counselling for the therapeutic options, the planning of the delivery and the postnatal care. This requires a close collaboration between obstetricians, neonatologists and pediatric cardiologists. Because of restricted financial sources extensive fetal echocardiographic assessment is reserved for pregnancies with increased risk for CHD, which includes a family history of CHD, suspicion of a cardiac or extracardiac fetal abnormalities at obstetric routine ultrasonography, fetal arrhythmias and chromosomal anomalies. Since most CHD occur in pregnancies without increased risk an ultrasound screening of the fetal heart during routine pregnancy ultrasound is recommended. Most forms of CHD can potentially be detected in utero, especially the severe ones with considerable fetal and postnatal morbidity and mortality. The prenatal diagnosis of a major cardiac malformation requires further assessments for extracardiac and chromosomal disorders. The deliveries of patients with major cardiac anomalies in a tertiary obstetric center close to a pediatric cardiac facility allows optimal perinatal and postnatal management. This may be of crucial importance for cardiac malformations which are arterial duct dependent postnatally. Many CHD have genetic causes. Well established is the association of CHD and the trisomies 13, 18 and 21, as well as the monosomy XO (Turner syndrome). During the last years more and more molecular genetic causes for CHD could be demonstrated. The most significant one is the microdeletion 22q11 syndrome (CATCH 22 syndrome), which is associated with different conotruncal anomalies. Also for various other congenital cardiac malformations and syndromes a genetic cause could be demonstrated. The search for genetic cofactors is important as it affects parental counselling and patient care.     

产前超声诊断先天性心脏病胎儿的基因特征

目的 观察产前超声诊断先天性心脏病（CHD）胎儿的基因特征。方法 回顾性分析613胎经产前超声诊断CHD的单胎胎儿资料,并将其分为8类心脏结构异常;其中40胎因染色体核型分析和/或染色体微阵列分析（CMA）提示良性拷贝数变异（CNV）或临床意义不明确的CNV（VUS）而接受全外显子测序（WES）。结果 613胎CHD中,479胎接受染色体核型分析及CMA,基因检测显示60胎（60/479,12.53%）存在异常;134胎仅接受CMA,基因检测显示4胎（4/134,2.99%）存在异常。568胎为孤立性、45胎为非孤立性CHD,分别有40胎（40/568,7.04%）及15胎（15/45,33.33%）染色体核型分析和/或CMA显示异常。复合型CHD（10/41,24.39%）染色体核型分析和/或CMA异常检出率高于非复合型（54/572,9.44%）。复合型CHD中,染色体核型分析和/或CMA异常检出率在圆锥动脉干畸形（CTD）合并静脉系统畸形胎儿中最高,达30.77%（4/13）;非复合型CHD中,染色体核型分析和/或CMA异常检出率在内脏反位胎儿中最高,为25.00%（1/4）。染色体核型分析和/或CMA结果提示良性CNV或VUS的40胎中,WES提示3胎为致病性/可能致病性CNV（P/LP）、3胎为VUS、34胎为良性CNV。结论 CHD胎儿、尤其合并心外畸形者可能存在基因异常;CTD胎儿合并其他类型心脏结构异常时,基因异常可能性更大。相比单纯CMA,染色体核型分析联合CMA更有助于发现基因异常。     

Prenatal ultrasound findings in complete trisomy 9.

OBJECTIVE: To report on the prenatal ultrasound findings associated with complete trisomy 9. METHODS: Cases of complete trisomy 9 diagnosed prenatally were identified by reviewing the reports from two large cytogenetics laboratories serving tertiary referral centers for prenatal diagnosis. Information on prenatal ultrasound findings and outcome was obtained in all cases. RESULTS: Nine cases of complete trisomy 9 were identified. The diagnosis was made in the first trimester in four cases, in the second trimester in three and in the third trimester in two. Two fetuses underwent first-trimester ultrasound screening for aneuploidy and the nuchal translucency thickness was increased in both. All five fetuses detected in the second and third trimesters had several fetal anomalies including Dandy-Walker malformation in four cases, facial dysmorphism in four, genitourinary anomalies in three, congenital heart defects in three, ventriculomegaly in three, abnormal hands in two and megacisterna magna in one. Four fetuses were growth-restricted at the time of ultrasound evaluation. However, the two cases diagnosed in the third trimester had routine second-trimester anomaly scans reported as normal. There were no survivors in this series. CONCLUSION: Fetuses with complete trisomy 9 have multiple anomalies that can be readily detected prenatally by ultrasound. These mainly include, but are not restricted to, craniofacial, cardiovascular, musculoskeletal and genitourinary malformations. However, findings can be subtle and therefore missed at the routine second-trimester scan.     

产前超声诊断胎儿房室间隔缺损及基因检测分析

目的 评估胎儿房室间隔缺损（AVSD）的分型及其合并畸形，并以二代测序技术分析AVSD基因特征。方法 150胎超声诊断AVSD，其中47胎接受基因检测，对其超声心动图图像进行分析，评估AVSD分型及其心内外合并畸形，并对47胎脐带组织即其父母外周血行全基因组及全外显子测序。结果 47胎中，7胎（7/47，14.89%）为部分型AVSD，2胎（7/47，4.26%）为过渡型，38胎（38/47，80.85%）为完全型AVSD；其中27胎（27/47，57.44%）合并心内畸形，19胎（19/47，40.43%）合并心外畸形，14胎（14/47，29.79%）合并心内及心外畸形。基因检测结果显示4胎组织降解；43胎获得明确结果，其中22胎（22/43，51.16%）基因结果阳性，在合并心内畸形、心外畸形及同时合并心内外畸形胎儿中分别占40.47%（11/27）、73.68%（14/19）和78.57%（11/14）。结论 胎儿AVSD、尤其完全型AVSD易合并心内及心外畸形。AVSD多见基因异常，合并心外畸形时更易发生染色体异常，产前超声发现AVSD时应行遗传学检测。二代测序技术有助于发现不同水平基因异常。     

Second‐Trimester Genetic Sonography After First‐Trimester Combined Screening for Trisomy 21

Objective. The purpose of this study was to evaluate the trisomy 21 screening performance of the first‐trimester combined test followed by second‐trimester genetic sonography. Methods. This retrospective cohort study included all women with singleton pregnancies undergoing combined screening followed by genetic sonography at 17 to 21 weeks from January 1, 2005, to January 31, 2008. Combined test trisomy 21 risks were multiplied by positive or negative likelihood ratios based on the second‐trimester sonographic findings to determine the final trisomy 21 risk. Sonography was evaluated as the second part of (1) a stepwise sequential test applied to combined screen‐negative pregnancies and (2) an integrated test applied to all combined screen patients regardless of the latter results. A final trisomy 21 risk of 1:270 or higher was considered screen‐positive. Results. A total of 2231 pregnancies underwent combined screening, which detected 7 of 8 Down syndrome cases (87.5%) at a 9.6% screen‐positive rate. A total of 884 of these patients (39.6%), including 2 having fetuses with Down syndrome, had genetic sonography. Combined screening detected 1 of these trisomy 21 fetuses (50%) at a 15.7% screen‐positive rate. Integrated ultrasound‐based aneuploidy screening detected both trisomy 21 cases (100%) at a 22.7% screen‐positive rate, whereas stepwise sequential ultrasound‐based aneuploidy screening also detected both trisomy 21 fetuses (100%) but at a 28.3% screen‐positive rate (P < .0001). Conclusions. Second‐trimester genetic sonography after first‐trimester combined screening may improve trisomy 21 detection at the expense of increasing screen‐positive rates.     

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。     

不同孕周的胎儿泌尿系统畸形的三维超声产前诊断及预后评估

目的:探讨不同孕周的胎儿泌尿系统畸形的三维超声产前诊断及预后评估.方法:以2016年1 月-2018年12月在我院行产前检查的1 288例孕妇作为研究对象.均进行二维、三维超声检查,分娩或引产后进行确诊.结果:1 288例孕妇共分娩或引产1 307例胎儿,根据引产尸检或分娩后确诊检查以及随访结果,发现泌尿系统畸形共35...     

Ultrasound diagnosis of central nervous system anomalies (bifid choroid plexus,ventriculomegaly, Dandy‐Walker malformation) associated with multicystic dysplastic kidney disease in a trisomy 9 fetus: Case report with literature review

Trisomy 9 is a lethal chromosomal abnormality that rarely progresses beyond the second trimester of pregnancy. Multiple central nervous system anomalies, including bifid choroid plexus, ventriculomegaly, and Dandy‐Walker malformation, associated with multicystic dysplastic kidney disease in a trisomy 9 fetus are reported. The prenatal ultrasound diagnosis has been aided by novel three‐dimensional ultrasound software. © 2012 Wiley Periodicals, Inc. J Clin Ultrasound 41:441–447, 2013     

系统产前超声检查在双胎妊娠产前筛查中的应用价值

目的探讨系统产前超声检查在双胎妊娠产前筛查中的应用价值。 方法对2012年10月至2017年12月在咸阳市妇幼保健院进行系统产前超声检查的393例双胎妊娠资料进行回顾性分析,将其中27例双胎妊娠畸形病例纳入研究。通过将双胎妊娠畸形病例产前超声检查资料与随访及病理解剖结果进行对比,分析双胎妊娠系统产前超声检查胎儿畸形检出率及诊断符合率。 结果纳入研究的27例双胎妊娠畸形病例中19例为胎儿结构畸形,8例为双胎妊娠特有畸形。19例胎儿结构畸形均为双胎之一胎儿的单一畸形,8例双胎妊娠特有畸形多为两个胎儿同时受到累及。系统产前超声检查检出17例胎儿结构畸形和8例双胎妊娠特有畸形均与病理诊断符合,系统产前超声检查诊断符合率100%（25/25）;漏诊胎儿结构畸形2例,胎儿畸形检出率92.6%（25/27）。 结论系统产前超声检查应用于双胎妊娠产前筛查有较高的畸形检出率及诊断符合率,具有重要的临床应用价值。     

超声和MRI在胎儿心脏畸形筛查中的对比与联合应用研究

目的 探究超声与MRI在胎儿心脏畸形筛查中的对比和联合应用价值。方法 第一阶段选取39例胎儿心脏畸形确诊病例进行MRI扫查,以超声切面图为模板创建出与其一一对应的MRI标准断层图;第二阶段以标准切面图或断层图为基础,对57例胎儿心脏畸形可疑病例进行超声诊断、MRI诊断、超声与MRI联合会诊,并将单独超声诊断、单独MRI诊断、超声与MRI联合会诊的结果与尸检或出生后随访结果进行对比分析,比较三种诊断方法的符合率。结果 通过尸检调查与随访结果,得知超声与MRI联合会诊的符合率为98.24%（误诊1例,无漏诊）,明显高于单独超声诊断的符合率为85.96%（误诊5例,漏诊3例）,两组数据差异具有统计学意义（χ2=4.34,P <0.05）;单独MRI诊断的符合率为70.18%（误诊6例,漏诊11例）,明显低于单独超声诊断的符合率,两组数据差异具有统计学意义（χ2=4.15,P <0.05）。结论 超声与MRI联合会诊的符合率明显高于单独超声诊断和单独MRI诊断的符合率,超声与MRI对比应用可知各自的优劣,联合应用可相互取长补短,并能有效提高胎儿心脏畸形筛查的检出率与准确性。     

Trends in fetal echocardiography and implications for clinical practice: 1985 to 2003.

OBJECTIVE: The purpose of this study was to determine whether patterns of referral for fetal echocardiography (FE) and the subsequent yield for structural congenital heart disease (CHD) have changed between 1985 and 2003. METHODS: All FE performed between 1985 and 2003 at Yale-New Haven Hospital was reviewed. The primary indication for study and the presence of structural CHD were recorded, and data were analyzed for trends. Linear regression with Pearson coefficient calculation and Mantel-Haenszel chi(2) analysis were performed (P < .05 significant). RESULTS: Between 1985 and 2003, 10,806 patients had FE at Yale-New Haven Hospital, and 774 cases of structural CHD were detected. The annual number of studies and rate of detected structural CHD remained constant through the study period. There was a significant increase in the proportion of studies for diabetes, maternal structural CHD, suspicious 4-chamber heart, and family history of cardiac disease. There was a significant decrease in the proportion of studies for a previous child with structural CHD, cardiac teratogen exposure, other fetal anomalies, aneuploidy, fetal arrhythmia, and nonimmune hydrops. The percentage of structural CHD detected by indication remained constant through the study period. Subgroup analysis of diabetes revealed an increase in class B diabetes, while classes C and D remained stable. CONCLUSIONS: This is one of the largest series of FE and suggests that the pattern of indications has changed since 1985. Specifically, referral for diabetes (mostly class B) has increased without a change in yield of structural CHD by indication for sonography. The changing referral patterns reflect a change in obstetric demographics and has implications for obstetric care.     

应用多普勒超声在妊娠11+0～14+6周筛查先天性心脏畸形的初步研究

目的 在妊娠早期末和妊娠中期初联合应用二维超声和多普勒超声观察胎儿心脏结构、心内 和心外血流,探索在此阶段多普勒超声在筛查胎儿先天性心脏发育异常中的价值.方法 在妊娠11 +0 ～ 14 +6周进行常规胎儿产前超声检查,结合颈项透明层厚度(NT)和颈部软组织厚度(NF)测量,观察胎儿心脏 大体结构,应用脉冲多普勒超声获取胎儿二尖瓣、三尖瓣和静脉导管血流频谱,并进行相应的血流频谱分析.所有胎儿在妊娠中期进行胎儿超声心动图检查或在出生后进行新生儿超声心动图检查.结果 正常胎儿 335 例,NT 或NF 增厚者9 例,其中1 例在妊娠13 周诊断心脏永存动脉干畸形,引产后病理证实,2 例选择14 周前终止妊娠,2 例妊娠中期超声筛查胎儿其他结构异常选择中期引产,无心脏结构异常,4 例足月分娩,无 心脏结构异常.正常胎儿舒张早期时间(EADT)较舒张晚期时间(ENDT)短,左右心室之间无统计学差异.NT 增厚不伴心脏畸形胎儿仅部分胎儿静脉导管搏动指数(PI)、阻力指数(RI)、收缩期峰值流速与舒张期最 低流速比值(S/D)增高.永存动脉干胎儿左右心室E/A 比值较正常胎儿异常增高或下降,EADT 缩短,ENDT 延长,EADT/ENDT 比值缩小,静脉导管血流波形异常.结论 妊娠13 周后,随着胎儿心脏各个切面的显示 率不断增高,可有针对性地对特殊群体进行早期的胎儿超声心动图检查,筛查严重的先天性心脏畸形.分析 二尖瓣和三尖瓣的血流频谱,判断左右心室的血流动力学变化,并结合观察静脉导管的血流波形,可以辅助 筛查胎儿先天性心脏畸形.如果仅二维超声怀疑心脏结构异常,而心内和心外血流动力学未发生改变者,应 慎重诊断先天性心脏畸形,避免误诊.     

Satisfactory Visualization Rates of Standard Cardiac Views at 18 to 22 Weeks' Gestation Using Spatiotemporal Image Correlation

Objective. The purpose of this study was to determine the frequency with which 3 standard screening views of the fetal heart (4-chamber, left ventricular outflow tract [LVOT], and right ventricular outflow tract [RVOT]) can be obtained satisfactorily with the spatiotemporal image correlation (STIC) technique. Methods. A prospective study of 111 patients undergoing anatomic surveys at 18 to 22 weeks was performed. Two ultrasound machines with fetal cardiac settings were used. The best volume set that could be obtained from each patient during a 45-minute examination was graded by 2 sonologists with regard to whether the 4-chamber, LVOT, and RVOT images were satisfactory for screening. Results. All 3 views were judged satisfactory for screening in most patients: 1 sonologist graded the views as satisfactory in 70% of the patients, whereas the other found the views to be satisfactory in 83%. The position of the placenta did not alter the probability of achieving a satisfactory view, but a fetus in the spine anterior position was associated with a significantly lower probability that the views were regarded as satisfactory for screening (odds ratio, 0.28; 95% confidence interval, 0.09–0.70; P < .05). Conclusions. This study suggests that STIC may assist with screening for cardiac anomalies at 18 to 22 weeks' gestation.     

Ultrasound and fetal magnetic resonance imaging: Clinical performance in the prenatal diagnosis of orofacial clefts and mandibular abnormalities

Cleft lip, with or without cleft palate, is the most common congenital craniofacial anomaly and the second most common birth defect worldwide. Micrognathia is a rare facial malformation characterized by small, underdeveloped mandible and frequently associated with retrognathia. Second- and third-trimester prenatal ultrasound is the standard modality for screening and identification of fetal orofacial abnormalities, with a detection rate in the low-risk population ranging from 0% to 73% for all types of cleft. The prenatal ultrasonography detection can also be performed during the first trimester of pregnancy. Given the potential limitations of obstetric ultrasound for examining the fetal face, such as suboptimal fetal position, shadowing from the surrounding bones, reduce amniotic fluid around the face, interposition of fetal limbs, umbilical cord and placenta, and maternal habitus/abdominal scars, the use of adjunct imaging modalities can enhance prenatal diagnosis of craniofacial anomalies in at-risk pregnancies. Fetal magnetic resonance imaging (MRI) is a potentially useful second-line investigation for the prenatal diagnosis of orofacial malformations with a pooled sensitivity of 97%. In this review, we discuss the role of ultrasound and fetal MRI in the prenatal assessment of abnormalities of the upper lip, palate, and mandible.     

The impact of fetal echocardiography on perinatal outcome

Fetal echocardiograms were performed in 266 gravidae over a one-year period for a variety of previously identified indications. The largest group consisted of 112 patients referred because of other family members with congenital heart disease (CHD). Of these, only one fetus had CHD. The groups with the highest incidence of CHD were those suspected on general obstetrical scan to have structural cardiac disease (50% abnormal) and those scanned after extracardiac anomalies were found (26% abnormals). Forty rhythm abnormalities were encountered, 85% isolated premature atrial extra-systoles. We conclude that fetal echocardiography should be part of the prenatal evaluation of fetuses with extracardiac anomalies and of those with nonimmune hydrops. Any fetus suspected to have an abnormality of cardiac structure from the four-chamber view of the heart usually visualized while obtaining the abdominal circumference should also be evaluated.     

Ductus venosus blood flow resistance and congenital heart defects in the second trimester

PURPOSE: To study the association between fetal cardiac defects and the presence of abnormal blood flow resistance of the ductus venosus during the second trimester of pregnancy. METHODS: This retrospective case-control study included 72 pregnancies with fetal cardiac anomalies and 267 normal pregnancies. In fetuses with cardiac anomalies, Doppler velocimetry resistances of the ductus venosus were serially determined prior to birth. The Doppler velocimetry resistances obtained from fetuses with cardiac anomalies were in turn compared with median values derived from 267 normal pregnancies to compensate for biometric bias due to gestational age. RESULTS: Among the 72 pregnancies with fetal cardiac anomalies, 26 fetuses showed isolated congenital heart disease (CHD) without nonimmune fetal hydrops (NIFH) (group A), 10 fetuses showed isolated CHD with severe heart defects, including atrioventricular valve insufficiency and consecutive cardiogenic NIHF (group B), and 36 fetuses showed chromosomal abnormalities, nonchromosomal extracardiac malformations, noncardiogenic NIHF, and fetal growth restriction summarized as nonisolated CHD (group C). Based on the pulsatility index for the vein of the ductus venosus, the area under the receiver operating characteristic (ROC) curves was 0.71, 0.73, and 0.86 for groups A, B, and C, respectively. CONCLUSION: In the 36 fetuses from group C, increased pulsatility index for vein of the ductus venosus (DVPIV) yielded a significant area under the ROC curve (0.86) with a sensitivity of 0.78 and a specificity of 0.78. Increased DVPIVs during the second trimester of pregnancy are highly correlated with fetal cardiac anomalies associated with chromosomal and extracardiac anomalies.     

77例室间隔缺损胎儿产前超声及遗传学检查结果分析

目的 探讨室间隔缺损(VSD)胎儿常见超声异常表型及遗传学结果,为产前咨询及预后评估提供资料。方法 对2016年11月至2018年12月我院超声心动图诊断VSD胎儿进行染色体核型分析、染色体微阵列分析(CMA)、低深度全基因组测序方法(CNV-seq)、全外显子测序(WES)等遗传学检测。以遗传学检测资料完整并随访至妊娠终止的77例VSD胎儿作为研究对象,回顾性分析其心脏及心外超声结构异常表型、遗传学检查结果。结果 1.77例VSD胎儿中：孤立性VSD胎儿41例(53.2%),VSD同时合并心脏及心外畸形16例(20.8%)、VSD只合并心脏畸形14例(18.2%)、VSD只合并心外畸形6例(7.8%)。2.超声表型异常：合并心外畸形22例(28.6%),以超声微小结构异常最常见;合并心脏异常30例(39%),均为圆锥动脉干畸形。3.遗传学异常共16例,检出率20.8%(16/77)：VSD同时合并心脏及心外畸形胎儿遗传学异常率最高,为43.8%(7/16), 其次为VSD只合并心脏畸形胎儿35.7%(5/14)、VSD只合并心外畸形胎儿33.3%(2/6)、孤立性VSD胎儿4.9%(2/41)。在核型正常VSD胎儿中额外检出12例异常：致病性CNVs 8例(6例微缺失、2例微重复)、4例单基因病,分子诊断率分别提高了15.1%、7.5%。结论 产前超声发现胎儿存在VSD时,应仔细扫查是否合并心脏及心外异常,并进行遗传学检测;综合合理应用包括核型,CMA及高通量测序(WES, CNV-seq)等方法能提高VSD胎儿遗传学异常检出率,对VSD胎儿的产前评估和预后咨询能提供更多信息。