Assessment of Congenital Vascular and Organ Anomalies in Subjects With Thalidomide Embryopathy Using Non-Contrast Magnetic Resonance Angiography.

BACKGROUND: To determine the type and frequency of vascular and organ malformations in adults with thalidomide embryopathy (TE) using non-contrast magnetic resonance angiography (MRA) and to assess the effect of the observed malformations on renal function. Methods and Results: The institutional ethics committee approved this prospective study and written informed consent was given by all 78 subjects (50 females) with TE (mean age: 55±1.1 years), who were examined by non-contrast MRA at 3T. ECG-triggered balanced turbo field echo images of the chest, abdomen and pelvis were obtained in coronal and sagittal orientations. Two observers assessed the frequency of vascular and organ malformations. Serum creatinine and estimated glomerular filtration rate (eGFR) were obtained to assess renal function. In 58 subjects, 99 vascular anomalies were observed, including 68 arterial (69%) and 31 venous anomalies (31%); 15 patients had 16 abdominal organ malformations including 12 kidney anomalies and 4 cases of gallbladder agenesis. Most vascular anomalies affected the renal vessels (n=66, 67%) or supraaortic arteries (n=28, 28%). Serum creatinine and eGFR revealed normal renal function in all subjects. CONCLUSIONS: Vascular and organ anomalies occurred in a high number of subjects with TE without evidence of renal dysfunction. Information about the presence of malformations may be important for future surgical interventions in subjects with TE.

No. 352-Technical Update: The Role of Early Comprehensive Fetal Anatomy Ultrasound Examination.

OBJECTIVE: This guideline presents an evidence-based technical update and recommendations for the performance of early comprehensive fetal anatomic scanning (ECFAS) at 11 to 16 weeks' gestation. OPTIONS: Patients at high risk for fetal anomalies and in whom traditional mid-second trimester transabdominal imaging may be challenging or who may benefit from earlier identification of fetal anomalies may be suitable for early fetal anatomy scanning. OUTCOMES: This practice may result in earlier identification of fetal anomalies and provide earlier intervention options in high-risk populations and/or in populations where mid-second trimester transabdominal scanning is challenging. TARGET POPULATION: This population consists of obstetrical patients in whom mid-second trimester ultrasound scanning will be technically challenging and patients who are at higher risk for major fetal anomalies. EVIDENCE: Published literature was retrieved through searches of PubMed and Medline in 2016 using key words. Results were restricted to controlled clinical trials, reviews, and observational studies published in English. There were no date restrictions, and searches were updated in the guideline to 2016. Grey (unpublished) literature was identified through searching the websites of health technology assessment and clinical practice guidelines and national and international medical specialty societies. No relevant studies were found. VALIDATION METHODS: The content and recommendations were drafted and agreed on by the principal authors. The Board of the SOGC approved the final draft for publication. The quality of evidence was rated using the criteria described in the Grading of Recommendations Assessment, Development, and Evaluation (GRADE) methodology framework. BENEFITS, HARMS, AND/OR COSTS: It is anticipated that there will be an increase in earlier detection of major fetal anomalies in the target population with the benefits of earlier interventions for those individuals. In areas where the service is not available the patient may need to travel to a nearby centre. Early fetal anatomy scanning is considered to be safe and is not expected to cause a risk to the pregnancy. GUIDELINE UPDATE: Evidence will be reviewed 5 years after publication to decide whether all or part of the guideline should be updated. However, if important new evidence is published before the 5-year cycle, the review process may be accelerated for a more rapid update of some recommendations. SPONSORS: This technical update was developed with resources funded by the SOGC. SUMMARY STATEMENTS: RECOMMENDATIONS.

Three-dimensional assessment of the temporal bone and mandible deformations in patients with congenital aural atresia.

OBJECTIVE: To investigate the deformations of temporal bone and mandible combined with congenital aural atresia. METHODS: A total of 158 patients with congenital aural atresia were included in the study. The raw CT data of the temporal bone was imported into MIMICS v 12 and threshold dissection, region growing and three-dimensional (3D) calculation were used to calculate 3D models. The 3D characteristics of the temporal bone and upper part of mandible were assessed. RESULTS: The tympanic part of the temporal bone was all undeveloped. Of all the patients included, 14 patients were found to have severe maxillofacial malformations. Among them, 2 cases have floating arch, 4 cases have interrupted arch, 5 cases have mandibular processes hypoplasia and 3 cases have interrupted arch combined with severe maxillary malformation. Ten of the 14 patients were suffered from dysplasia of the mastoid part of the temporal bone as well. CONCLUSION: Maxillofacial malformations may sometimes coexist with congenital aural atresia. Otolaryngologists should not neglect the coexisted maxillofacial malformations and give timely referral to maxillofacial surgeons.

[Ultrasound screening for birth defects: A medico-economic review]. / Aspects médico-économiques du dépistage échographique des malformations fœtales : revue de la littérature.

OBJECTIVES: The systematic use of ultrasound during pregnancy aims at birth defect detection. Our objective was to assess the economic efficiency of prenatal ultrasound screening for fetal malformations. METHODS: We carried out a literature review on Medline via PubMed between 1985 and 2015, from the economic perspective of the prenatal ultrasound screening for fetal malformations. RESULTS: The literature on this subject was sparse and we selected only twelve articles presenting relevant economic data, of which only eight were proper medico-economic studies. We found arguments for the economic effectiveness of ultrasound screening for fetal malformation detection, which is largely linked to the terminations of pregnancies and to the cost of the handicaps "avoided". However, none of the reviewed articles could reach medico-economic conclusions. Additionally, we highlighted various elements making economic analyses more complex in this field: the choice of the method, the uncertainty around two essential parameters (the efficiency of ultrasound and the costs of procedures) and the difficulties to compare or to generalize results. We also noticed important methodological heterogeneity among the studies and the absence of French study. CONCLUSIONS: Previously published data are insufficient to assess the economic efficiency of prenatal ultrasound screening for fetal malformations.

Preoperative assessment of stapes implantations of the vibrant SoundBridge for congenital aural atresia patients.

OBJECTIVE: The objective of this study is to retrospectively analyze the imaging characteristics of patients with congenital aural atresia who underwent Vibrant Soundbridge implantation, and to investigate the importance of preoperative evaluation of vibroplasty. MATERIALS AND METHODS: The study included 16 patients with bilateral congenital aural atresia aged 6-25 years (mean age, 14.7 years). All patients underwent Vibrant Soundbridge implantations. RESULTS: Among the 16 patients, 15 successfully underwent stapes implantation. The average height of the stapes of these 15 patients was 2.93 mm, which was significantly different from that of the control group with normal hearing (p ≤ .001). The average distance between the tympanic segment of the facial nerve and the stapes was 1.41 mm in patients in whom the oval window was occluded by the displaced facial nerve. In the non-occluded group, the average distance was 2.00 mm. No significant difference was observed between the two groups (p = .08). CONCLUSION: The distance between the facial nerve and stapes, as well as the height of the stapes, could be important predictors of successful stapes implantation of Vibrant Soundbridge.

Advantages of 3D ultrasound in the assessment of fetal abnormalities.

Three-/four-dimensional (3D/4D) imaging enables a more detailed survey of the embryo and the fetus compared to two-dimensional (2D) ultrasound. The availability of several display modes and standardized examinations permits the demonstration of both the normal and abnormal fetal anatomy in controlled planes and rendered images from different angles. This allows the demonstration of even subtle fetal defects in an ideal sectional plane in a precisely rendered surface or transparent image viewed from an optimal angle. When counseling the parents, the rendered images can help them understand the severity of an existing malformation or, conversely, ensure them of the absence of any fetal abnormality. This is particularly useful in cases with an increased recurrence risk of a specific fetal malformation.

Cost Analysis of Following Up Incomplete Low-Risk Fetal Anatomy Ultrasounds.

OBJECTIVES: To examine the clinical utility and cost of follow-up ultrasounds performed as a result of suboptimal views at the time of initial second-trimester ultrasound in a cohort of low-risk pregnant women. METHODS: We conducted a retrospective cohort study of women at low risk for fetal structural anomalies who had second-trimester ultrasounds at 16 to less than 24 weeks of gestation from 2011 to 2013. We determined the probability of women having follow-up ultrasounds as a result of suboptimal views at the time of the initial second-trimester ultrasound, and calculated the probability of detecting an anomaly on follow-up ultrasound. These probabilities were used to estimate the national cost of our current ultrasound practice, and the cost to identify one fetal anomaly on follow-up ultrasound. RESULTS: During the study period, 1,752 women met inclusion criteria. Four fetuses (0.23% [95% CI 0.06-0.58]) were found to have anomalies at the initial ultrasound. Because of suboptimal views, 205 women (11.7%) returned for a follow-up ultrasound, and one (0.49% [95% CI 0.01-2.7]) anomaly was detected. Two women (0.11%) still had suboptimal views and returned for an additional follow-up ultrasound, with no anomalies detected. When the incidence of incomplete ultrasounds was applied to a similar low-risk national cohort, the annual cost of these follow-up scans was estimated at $85,457,160. In our cohort, the cost to detect an anomaly on follow-up ultrasound was approximately $55,000. CONCLUSIONS: The clinical yield of performing follow-up ultrasounds because of suboptimal views on low-risk second-trimester ultrasounds is low. Since so few fetal abnormalities were identified on follow-up scans, this added cost and patient burden may not be warranted.

Prenatal diagnosis: From policy to practice. Two distinct ways of managing prognostic uncertainty and anticipating disability in Brazil and in France.

Prenatal diagnosis (PND) has gradually established itself as part of the pregnancy monitoring process, with a view to reducing the number of births of children exposed to disability by combining the use of biomedical tools with laws that authorise abortion in cases of foetal pathology. This article looks at how laws which vary from one country to another modulate the way in which PND practices are organised on a daily basis, determine the discourse of practitioners and lead them to adopt specific stances during prenatal consultations with couples coping with a foetal anomaly. We present a comparative ethnographic study, which took place between 2009 and 2011 in France and Brazil, in reference units, based on observation of consultations, professional meetings, and interviews with health practitioners. The fact that access to abortion due to foetal pathology is possible in France, and criminalised in Brazil, conditions how doctors analyse the framework of their medical practice and approach the issue of disability with couples during consultations. In France, practitioners would appear to be satisfied with a professional framework that they themselves created. Faced with prognostic uncertainty, the legal obligation to inform encourages them to discuss all of the potential complications of the diagnosed anomalies and leads them to provide probabilistic information about the life of the child to be, supported by evidence-based medicine. In Brazil, in the public service, the lack of access to abortion has created a malaise among practitioners who criticise this impediment to the objective nature of their practice and to the quality of the information that they provide. Some use prognostic uncertainty to direct the thoughts of women and couples towards the dynamics proper to each individual human trajectory within a given family and a specific social environment.

Ultrasound for fetal assessment in early pregnancy.

BACKGROUND: Diagnostic ultrasound is a sophisticated electronic technology, which utilises pulses of high-frequency sound to produce an image. Diagnostic ultrasound examination may be employed in a variety of specific circumstances during pregnancy such as after clinical complications, or where there are concerns about fetal growth. Because adverse outcomes may also occur in pregnancies without clear risk factors, assumptions have been made that routine ultrasound in all pregnancies will prove beneficial by enabling earlier detection and improved management of pregnancy complications. Routine screening may be planned for early pregnancy, late gestation, or both. The focus of this review is routine early pregnancy ultrasound. OBJECTIVES: To assess whether routine early pregnancy ultrasound for fetal assessment (i.e. its use as a screening technique) influences the diagnosis of fetal malformations, multiple pregnancies, the rate of clinical interventions, and the incidence of adverse fetal outcome when compared with the selective use of early pregnancy ultrasound (for specific indications). SEARCH METHODS: We searched the Cochrane Pregnancy and Childbirth Group's Trials Register (30 March 2015) and reference lists of retrieved studies. SELECTION CRITERIA: Published, unpublished, and ongoing randomised controlled trials that compared outcomes in women who experienced routine versus selective early pregnancy ultrasound (i.e. less than 24 weeks' gestation). We have included quasi-randomised trials. DATA COLLECTION AND ANALYSIS: Two review authors independently assessed trials for inclusion and risk of bias, extracted data and checked them for accuracy. We used the Review Manager software to enter and analyse data. MAIN RESULTS: Routine/revealed ultrasound versus selective ultrasound/concealed: 11 trials including 37,505 women. Ultrasound for fetal assessment in early pregnancy reduces the failure to detect multiple pregnancy by 24 weeks' gestation (risk ratio (RR) 0.07, 95% confidence interval (CI) 0.03 to 0.17; participants = 295; studies = 7), moderate quality of evidence). Routine scans improve the detection of major fetal abnormality before 24 weeks' gestation (RR 3.46, 95% CI 1.67 to 7.14; participants = 387; studies = 2,moderate quality of evidence). Routine scan is associated with a reduction in inductions of labour for 'post term' pregnancy (RR 0.59, 95% CI 0.42 to 0.83; participants = 25,516; studies = 8), but the evidence related to this outcome is of low quality, because most of the pooled effect was provided by studies with design limitation with presence of heterogeneity (I² = 68%). Ultrasound for fetal assessment in early pregnancy does not impact on perinatal death (defined as stillbirth after trial entry, or death of a liveborn infant up to 28 days of age) (RR 0.89, 95% CI 0.70 to 1.12; participants = 35,735; studies = 10, low quality evidence). Routine scans do not seem to be associated with reductions in adverse outcomes for babies or in health service use by mothers and babies. Long-term follow-up of children exposed to scan in utero does not indicate that scans have a detrimental effect on children's physical or cognitive development.The review includes several large, well-designed trials but lack of blinding was a problem common to all studies and this may have an effect on some outcomes. The quality of evidence was assessed for all review primary outcomes and was judged as moderate or low. Downgrading of evidence was based on including studies with design limitations, imprecision of results and presence of heterogeneity. AUTHORS' CONCLUSIONS: Early ultrasound improves the early detection of multiple pregnancies and improved gestational dating may result in fewer inductions for post maturity. Caution needs to be exercised in interpreting the results of aspects of this review in view of the fact that there is considerable variability in both the timing and the number of scans women received.

Assessment of fetal malformations in the first trimester of pregnancy by three-dimensional ultrasonography in the rendering mode. Pictorial essay.

We present our experience in the contribution of three-dimensional ultrasonography, using the rendering mode, to the prenatal diagnosis of congenital anomalies including neurological defects (acrania/anencephaly, encephalocele, holoprosencephaly), facial anomalies (cyclopia and facial clefts), abdominal wall defects (omphalocele and gastroschisis) and defects of extremities (fetal muscle-skeletal dysplasias). Three-dimensional ultrasonography may contribute to improve the prenatal diagnosis with further revision of the fetal images, allowing a better prenatal counsel to the parents.

Early pregnancy assessment in multiple pregnancies.

Early ultrasound assessment and accurate determination of chorionicity is crucial so that appropriate care of multiple pregnancy can be provided. It is best achieved in the first trimester of pregnancy using the Lambda 'λ' and 'T' signs. Accurate labelling of the twins is needed to ensure that the same individual fetus is measured through the pregnancy so that the longitudinal growth pattern can be correctly assessed. Discrepancy in crown-rump length indicates a possibility for future development of selective intrauterine growth restriction. Careful early ultrasound assessment is needed to identify structural and chromosomal anomalies, as twin pregnancies are at increased risk. Twin-to-twin transfusion syndrome, selective intrauterine growth restriction and congenital abnormalities represent the major determinants of perinatal loss in monochorionic pregnancies, and diagnosis and prognosis are discussed in detail. Treatment of twin reverse arterial perfusion sequence is more effective in early pregnancy, so early identification is needed. Outcome of conjoined twins is guarded, and is dependent on the extent of fusion, degree of sharing of organs, associated anomalies, and presence of cardiac failure in utero.

The uses of ultrasonography in relation to foetal malformations in Rio de Janeiro, Brazil.

The world-wide diffusion of prenatal ultrasound has encountered local historical, cultural and political particularities. The purpose of this article is to study the varied uses of this technology in cases of detection of a foetal anomaly, in Rio de Janeiro, in a context of generalized access to ultrasound, restrictive legislation on abortion and major social inequalities. An ethnographic approach was chosen combining from 2009 to 2011, observations of prenatal consultations and interviews with specialist physicians and pregnant women, in both public and private sector institutions. Analysis of the data allowed us to identify three ideal-typical moments in the trajectory of the pregnant women when a foetal malformation was detected. The first moment occurs before the detection of the anomaly, when an initial ultrasound is carried out, essentially in private centres. The standardized actions of pregnancy monitoring are performed in the background while practitioners use the technology to support the local culture of praise to motherhood and the family. The second ideal-typical moment shows how detection of an anomaly leads to fragmentation of the foetus at the public referral centre for foetal malformations. But far from depersonalizing the consultation, the formalism of the diagnostic procedure is considered by some professionals as a political lever to empower women from poor neighbourhoods as they acquire knowledge and comprehension of the situation despite their lack of decisional autonomy. During the third ideal-typical moment, professionals put the data produced by the image into the larger perspective of the logic of care: the focus is no longer on access to knowledge and autonomy, but on the joint collaboration of women and professionals towards solving the problems of everyday life. The combination of these three moments in time illustrates a process whereby the malformed foetus is humanised, dehumanised and re-humanised with respect to the technological tool.

Ultrasound screening during pregnancy in Iran: womens' expectations, experiences and number of scans.

OBJECTIVE: To determine the number of ultrasound scans received by Iranian mothers during pregnancy and the relationship between scanning and background factors, and to describe the mothers' expectations and experiences of ultrasound scanning. DESIGN: Descriptive survey. SETTING: A hospital related to the Social Security Organisation of Urmia City in Iran. PARTICIPANTS: Over a six-month period, all mothers attending postpartum care and who met the inclusion criteria (n=654) were interviewed two to three days post partum, and asked to complete a questionnaire containing defined closed- and open-ended questions. FINDINGS: The mean number of ultrasound scans received by each woman during her latest pregnancy was 5.9. None of the participants received written information about the scanning procedure. For 91.1% (n=596) of the women, the most important reason for undergoing the scan was to be assured of their infant's health. However, the majority of women were not shown the monitor screen during any of their scans. The main reasons given for feeling happy after a scan were discovering the infant's gender and assurance about the infant's health. Most women overestimated the diagnostic power of ultrasound scanning. Few mothers reported negative feelings towards scanning, but more than half of the mothers indicated that they would like to see changes in the scanning procedure. KEY CONCLUSIONS AND IMPLICATIONS FOR PRACTICE: The quality of the information offered prior to scanning and the communication between staff and mothers should be improved. The number of scans should be decreased to be in accordance with the official Iranian public health-care guidelines. Although most women viewed ultrasound as being beneficial, it is essential to offer women appropriate information about the limitations of ultrasound in order to discourage unreasonable expectations and demands.

Ultrasound for fetal assessment in early pregnancy.

BACKGROUND: Diagnostic ultrasound is a sophisticated electronic technology, which utilises pulses of high frequency sound to produce an image. Diagnostic ultrasound examination may be employed in a variety of specific circumstances during pregnancy such as after clinical complications, or where there are concerns about fetal growth. Because adverse outcomes may also occur in pregnancies without clear risk factors, assumptions have been made that routine ultrasound in all pregnancies will prove beneficial by enabling earlier detection and improved management of pregnancy complications. Routine screening may be planned for early pregnancy, late gestation, or both. The focus of this review is routine early pregnancy ultrasound. OBJECTIVES: To assess whether routine early pregnancy ultrasound for fetal assessment (i.e. its use as a screening technique) influences the diagnosis of fetal malformations, multiple pregnancies, the rate of clinical interventions, and the incidence of adverse fetal outcome when compared with the selective use of early pregnancy ultrasound (for specific indications). SEARCH STRATEGY: We searched the Cochrane Pregnancy and Childbirth Group's Trials Register (September 2009). SELECTION CRITERIA: Published, unpublished, and ongoing randomised controlled trials that compared outcomes in women who experienced routine versus selective early pregnancy ultrasound (i.e. less than 24 weeks' gestation). We have included quasi-randomised trials. DATA COLLECTION AND ANALYSIS: Two review authors independently extracted data for each included study. We used the Review Manager software to enter and analyse data. MAIN RESULTS: Routine/revealed ultrasound versus selective ultrasound/concealed: 11 trials including 37505 women. Ultrasound for fetal assessment in early pregnancy reduces the failure to detect multiple pregnancy by 24 weeks' gestation (risk ratio (RR) 0.07, 95% confidence interval (CI) 0.03 to 0.17). Routine scan is associated with a reduction in inductions of labour for 'post term' pregnancy (RR 0.59, 95% CI 0.42 to 0.83). Routine scans do not seem to be associated with reductions in adverse outcomes for babies or in health service use by mothers and babies. Long-term follow up of children exposed to scan in utero does not indicate that scans have a detrimental effect on children's physical or cognitive development. AUTHORS' CONCLUSIONS: Early ultrasound improves the early detection of multiple pregnancies and improved gestational dating may result in fewer inductions for post maturity. Caution needs to be exercised in interpreting the results of aspects of this review in view of the fact that there is considerable variability in both the timing and the number of scans women received.

Risk assessment for Down syndrome with genetic sonogram in women at risk.

OBJECTIVE: To evaluate the algorithms of risk assessment for Down syndrome (DS). METHODS: Cohort study conducted in women at risk undergoing midtrimester genetic sonogram. Univariate and logistic regression analysis were used to relate findings to the occurrence of DS. The resulting model was validated in an independent population of patients. RESULTS: In a multivariable model adjusted for gestational age and maternal age, nuchal fold thickness (NFT) >or= 5 mm (OR = 4.6, 95% CI 0.9-23.9), presence of renal pelvic dilation (OR = 18.0, 95% CI 2.9-110.5), absent mid-phalanx of the 5th finger (OR = 29.9, 95% CI 6.1-145.8), presence of noncardiac malformations (OR = 20.1, 95% CI 2.6-154.7) or isolated heart defects (OR = 60.2, 95% CI 9.5-382.8), the interactions of gestational age with NFT >or= 5 mm (P = 0.04) and malformations with heart defects (P = 0.03) were significantly associated with DS. Utilizing this model and a risk cutoff point of 1/270, the sensitivity was 83.3% (5/6) with a false positive rate (FPR) of 28.5% (159/558). CONCLUSION: Genetic sonogram has adequate accuracy to be incorporated into management algorithms for risk assessment of DS in women at risk.