Diagnosis of fetal anomalies in early pregnancy

Summary With the high-resolution ultrasound technology available today, the rapid embryofetal development during the first trimester can be imaged in detail. Thus, malformations can also be recognized if especially searched for. In the literature an enormous number of ultrasonographic normal values concerning early pregnancy have been published, and there are innumerable case reports of early diagnosed malformations of various organ systems. With a targeted search more than half of anomalies detectable in the second trimester can be seen at the end of the first trimester. These data, however, are insufficient to justify the introduction of early screening for fetal anomalies. With a burdened history a targeted exclusion diagnosis can contribute to the first psychological relief of the parents. If there are abnormal findings, in many cases the prognosis can not be ascertained and some anomalies appear only temporarily in later healthy children. Therefore, hasty conclusions should be avoided.      

Transvaginal sonographic fetal axis determination in early second trimester

Objective  Correct prenatal determination of the fetal right/left axis is essential for the diagnosis of fetal malformations, in particular congenital heart anomalies. A reliable method of transabdominal echocardiographic assessment of the fetal situs in the late second trimester was established. We aimed to determine the validity of the transvaginal approach to assess fetal axis. Method  The study group consisted of 108 consecutive women in the second trimester of a singleton pregnancy, undergoing elective transvaginal anatomy scans. All had undergone previous transabdominal echocardiography to establish fetal axis. The same technique was used to assess the fetal axis during the transvaginal study, and the findings were compared. Results  There was total agreement in fetal axis determination between transabdominal and transvaginal scans in all cases. The accuracy of the transvaginal study was not affected by maternal obesity, fetal position or the presence of cardiac malformation (in one case). Conclusion  Transvaginal ultrasonography is the reliable and accurate means of determining the fetal axis. Both affiliations are affiliated with Sackler Faculty of Medicine, Tel Aviv University.     

The use of a vaginal probe in the diagnosis of ectopic pregnancy

Summary 75 patients with suspected ectopic pregnancy, referred to the department of Gynaecology and Obstetrics of the RWTH-Aachen between July 1987 and May 1988, were examined by means of transvaginal sonography. The sonographic findings were subsequently vaudated by clinical and/or surgical means. An ultrasound diagnosis of an ectopic pregnancy could not be confirmed in only 3 out 25 such cases.     

Three-dimensional transvaginal sonographic diagnosis of early and asymptomatic interstitial pregnancy

Context The interstitial gestation is a rare form of tubal pregnancy which is associated with high morbidity. The diagnosis of an interstitial gestation can be reached through a bidimensional transvaginal ultrasonography (2D-TVUS), however, sometimes when making use of this technique it is not possible to appropriately evaluate the position of the gestational sac in relation to the uterine cavity. The three-dimensional transvaginal ultrasonography (3D-TVUS) allows accessibility to plans that the bidimensional does not, thus it makes it possible to reach a more accurate diagnosis and it also allows for an appropriate therapeutic planning. Case report We present a case of interstitial gestation diagnosed in the sixth week in an asymptomatic woman, who had a previous diagnosis of primary infertility. The 2D-TVUS revealed the presence of a gestational sac outside of the uterine cavity; moreover the colored Doppler and the power Doppler indicated a thriving vascular ring. The 3D-TVUS in the surface and transparency mode demonstrated that the gestational sac was located in the interstitial region of the uterine tube, and the niche mode accurately evaluated the relationship between the gestational sac and the uterine cavity. The patient was successfully treated with a local injection of methotrexate guided by a transvaginal ultrasonography. The 3D-TVUS was of great importance to confirm the diagnosis, to allow appropriate therapeutic choices and to decrease the morbidity.     

An unusual cause of urinary retention in early pregnancy

Urinary retention is a rare complication of early pregnancy with few serious sequelae. A Medline search found no association between urinary symptoms and cervical pregnancy. This case describes urinary retention resulting from a cervical pregnancy and describes a proposed mechanism to explain the presenting symptoms. Cervical pregnancy should be considered as a rare cause of acute retention of urine in early pregnancy, especially in the presence of vaginal bleeding.     

First and early second-trimester diagnosis of fetal urinary tract anomalies using transvaginal sonography

Urinary tract anomalies are common. Prenatal diagnosis is important and enables either special obstetric management or termination of pregnancy and probably in the future, intrauterine intervention. Transvaginal sonography (TVS) allows visualization of the normal and anomalous fetal urinary tract at an early stage. One thousand nine hundred and forty women were examined via TVS at an early stage of pregnancy between 10 and 16 weeks from the last menstrual period (LMP) and 35 anomalies (1.8 per cent) were clearly identified: 29 cases of low urinary tract obstruction, 2 cases of multicystic dysplastic kidney, 2 cases of polycystic kidney (infantile type), 1 case of double collecting system, and 1 case of horseshoe kidney. Potter syndrome could be ruled out in three patients who had delivered fetuses suffering from this anomaly in previous pregnancies. The concise and early identification of anomalies makes TVS an important aid in the hands of the obstetrician, ultrasonographer, and neonatologist.     

胎儿医学框架下的氯化钾减胎术应用于早中孕期多胎妊娠的经验——来自单一中心的临床研究

目的:总结我院在胎儿医学框架下建立的氯化钾减胎术在早中孕期应用于多胎妊娠的临床经验。方法:回顾研究2011年1月至2013年12月在上海市第一妇婴保健院于孕11~16周行氯化钾减胎的32例患者的临床资料,记录围手术期母胎并发症及分娩28天后围产儿结局,总结单一中心采用该技术积累的相关经验。结果:患者的平均减胎手术孕周(13.81±0.84)周,平均分娩孕周(34.52±5.78)周,平均新生儿出生体重(2541±665.9)g。围产儿存活率为92.8%,母体并发症包括妊娠期高血压1例,重度子痫前期1例,未发生严重的分娩并发症。结论:在胎儿医学框架下进行的氯化钾减胎技术用于早中孕期减胎安全有效,改善了多胎妊娠的围产儿结局。     

Four-dimensional sonographic assessment of fetal facial expression early in the third trimester.

OBJECTIVE: To evaluate the characteristic patterns of facial expression in fetuses aged from 28 to 34 weeks using 4-dimensional (4-D) ultrasonography. METHODS: The faces of 10 healthy fetuses aged from 28 to 34 weeks were recorded continuously for 15 min with a 4-D ultrasonographic machine performing up to 25 frames per second. The occurrence rates of blinking, mouthing, yawning, tongue expulsion, smiling, scowling, and sucking were evaluated. RESULTS: Mouthing was the most frequent facial expression (median, 6.5; range, 2-19) whereas the least frequent were scowling (median, 1; range, 0-9) and sucking (median, 1; range, 0-2). Mouthing was evident in all fetuses and significantly more frequent than any other movement (P<.05). Yawning (median, 3; range, 0-6), smiling (median, 2; range, 0-9), and blinking (median, 1.5; range, 0-6) were observed in most cases. Tongue expulsion (median, 1.5; range, 0-5), scowling, and sucking were each observed in 6 cases. CONCLUSION: 4-D sonography provides a means of evaluating fetal facial expression early in the third trimester. It may be a key to predicting fetal brain function and well-being and an important modality in future fetal neurophysiologic research.     

Ultrasonographic patterns of fetal breathing movements in normal pregnancy

Objective: To assess through pregnancy fetal breathing movements (FBMs) patterns detected by M-mode and Doppler velocimetry technology. Methods: In this cross-sectional study FBMs were investigated in 1882 uncomplicated pregnancies over a 4-year period. Abdominal and thoracic wall movements of fetuses between 14 and 40 weeks of gestation were studied by M-Mode scan, and color Doppler velocimetry with spectral imaging analysis was used to investigate the presence of FBMs associated with nasal fluid flow velocity waveforms (NFFVWs). Results: Abdominal movements were observed in 19% of cases when gestation was less than 20 weeks and in 61% of cases when it was between 21 and 25 weeks; chest movements were significant after 21 weeks; and NFFVWs were detected at 22 weeks and increased progressively to 93% of cases at term. Conclusions: Fetal breathing movements are a complex phenomenon with a composite, progressive pattern of development during gestation.     

The relationship between sonographic fetal thymus size and the components of the systemic fetal inflammatory response syndrome in women with preterm prelabour rupture of membranes

Objective  To assess the relation between sonographic fetal thymus size and the components of fetal inflammatory response syndrome (FIRS) in women with preterm prelabour rupture of membranes (PPROM).
Design  Prospective cohort study.
Setting  University hospital from January through October 2006.
Population  Fifty-six women with PPROM.
Methods  In these women, fetal thymus perimeter was measured sonographically. At birth, cord venous plasma interleukin-6 (IL-6) level estimation and histopathological examination of the placentas and umbilical cords were performed.
Main outcome measures  Small thymus size (<5th percentile for gestational age) and its association with FIRS.
Results  From the 56 women with PPROM, 54% had chorioamnionitis (CA), 23% had funisitis. IL-6 level was >11 pg/ml in 52% of women and >18 pg/ml in 41%. A small thymus was more associated with male fetuses, shorter preterm prelabour rupture of membranes delivery interval, higher IL-6 level, higher frequency of funisitis and CA. When data were regressed for confounding, only IL-6 level and funisitis remained significant independent factors that influence the thymus size. In the subset of women ( n = 19) who delivered within 1 week of first measurements, a small thymus had sensitivity and positive predictive value of 93%, specificity and negative predictive value of 75% and accuracy of 89% in the identification of FIRS (IL-6 >18 pg/ml and/or funisitis).
Conclusions  An association exists between fetal thymic involution and components of FIRS in women with PPROM. Small fetal thymus size may be considered a reliable sonographic marker of fetal involvement in the inflammatory response.     

The role of sonographic examination in the follow-up of gynecological neoplasms

OBJECTIVE: The role and type of procedures of follow-up in patients with gynecological tumors are still a debatable issue. We prospectively analyzed the role of routine transabdominal and transvaginal ultrasound examination (US) in the detection of recurrent disease in gynecologic cancer patients. METHODS: Among 552 patients who underwent surgery for gynecological cancer, 385 were available for the analysis. Follow-up examinations included clinical examination, serum tumor marker assay, transvaginal and transabdominal sonography and CT scan/MRI. RESULTS: Positive US examination was documented in 83/385 patients (21.5%). In the overall series, the positive predictive value (PPV) of US examination was 100%, while the negative predictive value (NPV) was 92.7% failing to identify 22 cases of recurrences. When considering the subgroup of patients with positive clinical examination or abnormal tumor marker, positive US analysis was able to identify 66/66 cases of recurrence (PPV=100%), but exhibited an NPV of 22.2%, with 21/27 (77.8%) false negative cases. Conversely, in cases without clinical/serological signs of disease, positive US recognized all cases of recurrences (17/17, PPV=100%), and exhibited a very high NPV, with only 1 false negative case out of 275 (0.4%). The US detected recurrences appeared as a solitary lesion in 38/75 (50.6%) patients and in 28/75 (37%) appeared located centrally in the pelvis. The sonographic pattern of the ovarian recurrences was a solid lesion in most (33/40, 82%) cases. In the other gynecological tumors, the lesions appeared as solid masses in 33/35 (94%) cases. CONCLUSIONS: We showed that routine US might play a role in the follow-up of gynecologic malignancies, especially in the group of asymptomatic patients, while CT/MRI imaging might be more properly applied to patients with clinical or serological signs of disease.     

Four-dimensional sonographic assessment of fetal movement in the late first trimester

Objective

To evaluate, using four-dimensional (4D) sonography, the frequency of fetal movements during the late first trimester of normal singleton pregnancies.

Methods

Singleton pregnancies were studied—using transvaginal 4D sonography—for 10 minutes at 10-11 and 12-13 weeks of gestation. The frequencies of 5 fetal movements (isolated arm, isolated leg, short trunk, long trunk, and jumping movements) were evaluated.

Results

In the 17 pregnancies studied, the most frequent fetal movements were isolated arm movement at 10-11 weeks and jumping movement at 12-13 weeks. There was a significant difference in the frequency of jumping movement between 10-11 and 12-13 weeks (P < 0.05).

Conclusion

The difference in frequency of 5 fetal movements at 10-11 and 12-13 weeks of gestation may be caused by early neuromuscular development and differentiation of the neuromuscular system.     

Value of early diagnosis of urinary tract infections in pregnancy

Clinical report of severe nephrological and urological complications in pregnancy leading to the importance of early diagnosis of urinary tract infections in pregnant women. In this respect the central point is looking for asymptomatic significant bacteriuria. Microscopical methods and chemical practices are to be abandoned. The method of choice is quantitative urine culture. Early diagnosis and treatment of clinically symptomless infections in pregnancy is one of the fundamental criteria of quality in prenatal care.     

Methotrexate versus hyperosomolar glucose in the treatment of extrauterine pregnancy

The aim of this prospective, randomized, double blind study was to compare the efficacy of methotrexate and hyperosmolar glucose injected directly into the extra-uterine gestational sac under laparoscopic vision. The study included twenty women with ectopic pregnancy. Inclusion criteria were intact tubal pregnancy, not exceeding 4 cm in diameter, rising or plateauing βhCG levels, and no evidence of intra-abdominal bleeding. The patients were treated by laparoscopically guided injection of 3 mL fluid into the area containing the tubal pregnancy. The fluid contained either 25 mg methotrexate (n=9) or 50% glucose (n=9). Daily decrease in βhCG levels was faster in patients treated by methotrexate (median 8.7%) than in those treated by hyperosmolar glucose (median 4.8%), p=0.17. The study was discontinued due to a higher failure rate in the group treated by hyperosmolar glucose. In conclusion, local injection of methotrexate is superior to hyperosmolar glucose. It can be used as an alternative to salpingostomy or salpingotomy whenever laparoscopy is performed for the diagnosis and treatment of extra-uterine pregnancy. Received: 17 August 2000 / Accepted: 18 October 2000     

115例胎儿心脏畸形的产前诊断分析

目的:探讨胎儿心脏畸形的特点及其与染色体异常的关系。方法:对我院产前超声诊断的115例胎儿心脏畸形进行侵入性产前诊断,分析心内外畸形及染色体异常的类型和比例。结果:115例胎儿中心脏单发畸形74例,多发畸形41例;未合并心外畸形54例,合并心外畸形61例。染色体异常31例,包括21三体15例和18三体11例,右室双出口、室缺、完全型心内膜垫缺损及三尖瓣反流合并染色体异常比例分别占63.6%、44.4%、35.7%及33.3%。心脏单发畸形中24.3%合并染色体异常,心脏多发畸形中31.7%合并染色体异常,两者比较差异无统计学意义(P0.05);未合并心外畸形中14.8%合并染色体异常,合并心外畸形中37.7%合并染色体异常,两者比较差异有统计学意义(P0.05)。结论:胎儿心脏畸形常合并心外畸形及染色体异常,染色体异常以非整倍体为主,其中右室双出口、室缺、完全型心内膜垫缺损及三尖瓣反流合并染色体异常较常见,合并心外畸形时,染色体异常的比例增加。     

胎儿泌尿系统发育异常的多学科诊治模式探讨（附55例病例）

目的：探讨在胎儿医学框架上构建的胎儿泌尿系统发育异常的新型管理和诊治模式。方法：在产前诊断门诊发现的胎儿泌尿系统发育异常的孕妇在胎儿医学门诊进行系统的预约登记,进一步诊断及咨询,组织由胎儿医学专家及小儿泌尿外科专家参与的胎儿医学多学科会诊,为孕妇制定胎儿在孕期、分娩期、新生儿期的一个完整的诊疗计划并实施定期随访。结果：55例产前发现胎儿泌尿系统发育异常的孕妇接受了胎儿医学会诊及多学科会诊。55例中失访5例;36例分娩,其中4例已接受手术并取得成功;14例选择引产,其中1例提交伦理委员会讨论后引产。结论：在胎儿医学框架的基础上构建的胎儿泌尿系统发育异常的多学科诊治模式,优化了孕妇的就诊流程并利于孕妇做出进一步决定,为胎儿在孕期、分娩期、新生儿期作出一个完整的诊疗计划并实施,使新生儿得到早期干预并改善预后;根据疾病预后分组,并尝试将这一分组方法用于产前的咨询;探讨了伦理委员会制度在这一管理模式中的作用。     

Normal nephrogenesis occurs in the early stage of bilateral multicystic dysplastic kidneys

We present a case report about bilateral multicystic dysplastic kidneys (MCDKs). Pregnancy was terminated at 21 weeks’ gestation and the fetus was examined by autopsy. The kidneys were replaced by many cysts and there was no parenchyma. However, on histological examination, there was normal nephrogenesis amid the cystic/dysplastic tissue. This suggests that normal nephrogenesis occurs before the secondary changes leading to MCDKs. Received: 5 February 2001 / Accepted: 10 March 2001     

The current clinical presentation of complete molar pregnancy

Objective: To study the current clinical presentation of complete molar pregnancy. Method: Retrospective study of the clinical and ultrasonographic records of 41 patients with complete hydatidiform mole. Results: 17 (41%) patients were asymptomatic. 24 patients (58%) presented with vaginal bleeding, 6 (15%) had excessive uterine size, 1 (2%) had anemia and 1 (2%) had hyperemesis. Non of the patients had any other systemic manifestation. Pre evacuation ultrasound was performed in all cases and molar pregnancy was diagnosed in 36 (88%). Conclusions: Currently with routine first trimester ultrasonography a significant proportion of patients with molar pregnancy are asymptomatic at the time of diagnosis. Received: April 1999 / Accepted: 8 July 1999     

Women's perception of transvaginal sonography in the first trimester; in an early pregnancy assessment unit

The objective of this study was to gauge women views of transvaginal sonography in an emergency setting and to study any correlation between their perception of the procedure and their prior knowledge and experience of it. We surveyed women presenting with various complications of the first trimester. Only women who had transvaginal sonography and who gave informed consent were included. Four hundred and twenty-five women were recruited. Transvaginal sonography was considered not embarrassing, acceptable, not painful and not stressful by 378 (88.9%), 417 (98.1%), 419 (98.6%) and 385 (90.6%) of the women respectively. There were no statistically significant differences in the women's perception of the procedure whether they had prior knowledge and previous experience of the procedure or not. The majority of the women perceived transvaginal sonography favourably. Their perception of the procedure was favourable whether they had prior knowledge and previous experience of it or not.