Diagnosis and Treatment of Idiopathic Congenital Clubfoot.

Idiopathic congenital clubfoot is the most common serious musculoskeletal birth defect in the United States and the world. The natural history of the deformity is to persist into adult life with a significant decrease in function and quality of life. The Ponseti method (serial casting, Achilles tenotomy, and bracing of the clubfoot) has become the most effective and accepted treatment of children born with clubfoot worldwide. The treatment is successful, particularly when the Ponseti-trained practitioner (often a pediatric orthopedic surgeon), the primary care clinician, and the family work together to facilitate success. An important factor in the ultimate success of the Ponseti method is parental understanding of the bracing phase. There is a very high rate of recurrent deformity when bracing is not done properly or is stopped prematurely. The importance of positive education and support for the parents to complete the entire treatment protocol cannot be overstated. The goal of treatment is a deformity-free, functional, comfortable foot. Ponseti clubfoot programs have been launched in most countries throughout the world, including many countries with limited resources. Ultimately, the goal is that every infant born with a clubfoot will have access to care with the Ponseti method. This clinical report is intended for medical practitioners who are involved in the care of pediatric patients with clubfoot. Understanding the standard of care will help these practitioners to care for patients and their families.

Impact of introducing cell-free DNA screening into clinical care on first trimester ultrasound.

OBJECTIVE: First-trimester ultrasound is an important component of prenatal care. We investigated the impact of introducing cell-free DNA (cfDNA) aneuploidy screening into routine care, on performance of first-trimester ultrasound. METHODS: Retrospective study of patients who had prenatal care at a tertiary referral center. We compared the performance of any first-trimester ultrasound between three different aneuploidy screening protocols, used consecutively during the study period: (1) combined first-trimester screening (FTS); (2) FTS and cfDNA offered together; (3) patients requested to choose between FTS and cfDNA. Secondary outcomes included performance of nuchal translucency (NT), aneuploidy screens and diagnostic genetic procedures. RESULTS: The number of patients undergoing first-trimester ultrasound remained similar with the second protocol but decreased in the third (68.7% vs. 40.9%, OR 0.32, 95% CI 0.25-0.4, p < 0.001). Diagnostic procedures decreased between protocol 1 and 2 (7.6% vs. 4.4%, OR 0.59, 95% CI 0.37-0.93, p = 0.02) while NT scans decreased between protocol 2 and 3 (6.8% vs. 1.3%, OR 0.18, 95% CI 0.09-0.4, p < 0.001). The rate of FTS decreased over the study period and less women had cfDNA when they had to choose one method (p < 0.001). CONCLUSIONS: Introducing cfDNA screening as an alternative to FTS, resulted in fewer patients receiving ultrasound in the first-trimester.

New insights into human functional ultrasound imaging.

Ultrasound imaging is a vital tool for exploring in vivo the placental function which is essential to understand pathological phenomena such as preeclampsia or intrauterine growth restriction. As technology advances including ready availability of three-dimensional (3D) probes and novel software, new markers of placental function become possible. The objective of this review was to provide an overview of the new ultrasound markers of placental function with a focus on the potential clinical application of three-dimensional power Doppler (3DPD). A broad-free text literature search was undertaken based on human placental studies and sixty full-text studies were included in this review. Three-dimensional power Doppler is a promising technique to predict preeclampsia in the first trimester. However, the influence of external factors such as body mass index, parameter standardisation and machine settings still need to be addressed. Contrast-enhanced ultrasound is currently reserved for research, because the required injected contrast mediums are not currently approved for use in pregnancy, although the safety data is reassuring.

Combination of "Markers" and the Consequent Importance of Fetal Abdominal Circumference in the First Trimester for Predicting Complications Specific to Monochorionic Twin Pregnancies.

BACKGROUND: Multifetal pregnancies are considered high-risk pregnancies compared to singleton pregnancies. Monochorionic diamniotic (MCDA) twin pregnancies tend to have a more complicated intrauterine course than their dichorionic counterparts. The most common complications are twin-to-twin transfusion syndrome (TTTS), selective fetal growth restriction (sFGR), and unexplained intrauterine fetal demise (IUFD). Early recognition of pregnancies at risk of developing complications will be helpful for counselling the parents and preparing them for necessary interventions in case a complication arises. OBJECTIVES: The aim of our study was to assess the role of discordant crown-rump length (dCRL), discordant nuchal translucency (dNT), and discordant abdominal circumference (dAC) measurements in isolation and in combination at the 11-13+6 weeks' scan in predicting the development of TTTS, sFGR, and IUFD. METHODS: All MCDA twin pregnancies with structurally normal, both live fetuses at the 11-13+6 weeks' scan were followed up by FMF (Fetal Medicine Foundation)-certified operators for development of TTTS, sFGR, and single/double IUFD until delivery. Discordance of CRL, NT, and AC of more than or equal to 10% was considered a "marker," and its presence was correlated with the occurrence of specific antenatal complications, i.e., TTTS, sFGR, and single or double IUFD. RESULTS: Combination of two markers predicted MCDA-related complications in the majority of cases (70.8% positive predictive value). Combination of dNT and dAC was the strongest predictor (80% positive predictive value). CONCLUSIONS: In our population of MC twin pregnancies, dCRL, dNT, and dAC at the 11+0-13+6 weeks' scan, in isolation, had a low predictive value for antenatal complications, i.e., TTTS, sFGR, and single/double IUFD. However, the presence of at least two markers in the first trimester could predict complications in the majority of these pregnancies. The combination of dNT and dAC appears to be the best.

Recent Development in Three and Four Dimension Fetal Echocardiography.

Since its introduction >15 years ago, the use of spatial and temporal image correlation (STIC) technology has contributed substantially to fetal echocardiography. Moreover, significant advances have occurred in 3- and 4-dimensional (3D/4D) echocardiography over the past several years including the matrix probe along with advances in gray scale and color Doppler post processing, resulting in improved display of ultrasound images. In this article, we provide examples to show these recent developments including the use of color Doppler with STIC in the glass-body mode and the matrix probe thus enabling the demonstration of cardiac anomalies of the 4-chamber-view and great arteries. The use of the matrix probe allows the examination of cardiac structures in 2 orthogonal planes simultaneously, which can help in display of anatomy side by side (Biplane mode). In addition, the rapid image reconstruction of the matrix probe allows for the display of live 4D and the rapid acquisition of a STIC volume. The display of multiplanar images of the heart in 3D/4D has also been used to automate the display of ultrasound images, resulting in standardization of the image display and thus minimizing the operation dependency of the ultrasound examination. Future addition of image recognition software can also provide assistance in image review.

Zika virus infection: A correlation between prenatal ultrasonographic and postmortem neuropathologic changes.

This study presents a correlation between prenatal ultrasonographic images and neuropathologic findings of postmortem tissue samples from five confirmed cases of perinatal Zika virus (ZIKV) infection belonging to the cohort of the ZEN Initiative in Bucaramanga, Colombia. Deaths occurred between June 2016 and March 2017. Mothers consulted with ZIKV infection clinical manifestations or fetal central nervous system (CNS) abnormalities or both. A detailed ultrasound scan and neurosonographic protocol was performed by maternal fetal specialists. Perinatal autopsies were performed following the Colombian National Health Institute's ZIKV protocol. The autopsies were from two fetal deaths, and three early neonatal deaths. Gestational age was between 262/7 and 382/7 weeks. Two cases were classified as mild microcephaly. Few findings by ultrasound and pathology were found in case 1 because it was a late infection; the other cases presented findings corresponding to congenital Zika syndrome: craniofacial malformations, cerebellar hypoplasia, anomalies of the corpus callosum and ventriculomegaly, all confirmed in autopsy specimens. By ultrasonography, hyperechogenicities were seen in several brain structures, which correspond to cortical and periventricular calcifications, subependymal glial reactivity and perivascular rings. The ultrasound and pathological findings show a wide spectrum of CNS anomalies that confirm the neurotropic effect of the ZIKV, recognizing the neuroimaging findings of this disease (unilateral ventriculomegaly, alterations in the corpus callosum and cerebellum, and calcifications) are highly suggestive of ZIKV infection.

Is Four-Dimensional (4D) Ultrasound Entering a New Field of Fetal Psychiatry?

The aim of is to explore whether by observing the fetus by 4D US it is possible to enter fetal behavior, emotions, mental status, consciousness, awareness and other states connected with fetal mind and ability of self-regulation. It is well known that fetal motoric activity is enabling the development of central and peripheral nervous system and the muscles. It is 4D US which enabled to investigate fetal movement patterns from the first trimester of pregnancy throughout the whole pregnancy. Based on the evaluation of fetal spontaneous motor activity by 4D US, a prenatal neurologic scoring test named Kurjak Antenatal Neurodevelopmental Test (KANET) was created. This test has been used to assess almost 2000 fetuses and our results have indicated that KANET has an ability to recognize normal, borderline, and abnormal behavior in fetuses from normal and abnormal pregnancies. The fetus is able to process tactile, vestibular, taste, olfactory, auditory and visual sensations. The fetus responds to painful stimuli with a wide spectrum of reactions. Important external signs of emotion are facial expressions. The existence of a wide range of facial expressions, including grimacing, smiling, crying, similar to emotional expressions in adults, has been revealed by 4D sonography in the 2nd and 3rd trimesters of pregnancy. It is questionable if mental, emotional and behavioral conditions of the fetus were covered in this paper and whether we are able to perceive the fetus as the patient who may develop communication or some other psychiatric disorders which we will be hopefully able to recognize prenatally. Although it seems as the speculation from the point of view of our recent diagnostic possibilities, it is apparent that the day when this will be a reality is rapidly approaching.

The Impact of Technology on the Diagnosis of Congenital Malformations.

As technology improves and becomes more widely accessible, more subclinical congenital malformations are being detected. Using a cohort of 1,780,156 pregnant women and their offspring nested in the 2000-2013 US Medicaid Analytic eXtract, we contrasted time trends in malformations which do not necessarily present with overt clinical symptoms early in life and are more likely to be diagnosed via imaging (secundum atrial septal defect, patent ductus arteriosus, ventricular septal defect, pulmonary artery anomalies, pulmonary valve stenosis, hydrocephalus) with trends in malformations that are unlikely to escape clinical diagnosis (tetralogy of Fallot, coarctation of the aorta, transposition of the great vessels, hypoplastic left heart syndrome, oral cleft, abdominal wall defect). Logistic regression was used to account for trends in risk factors while assessing the impact of increased screening intensity. Prevalence of the diagnosis of secundum atrial septal defect rose from 2.3‰ in 2000-2001 to 7.5‰ in 2012-2013, of patent ductus arteriosus from 1.9‰ to 4.1‰, and of ventricular septal defect from 3.6‰ to 4.5‰. Trends were not explained by changes in the prevalence of risk factors but were attenuated when accounting for screening tests. The other malformations showed no temporal trends. Findings suggest that increased screening partially explains the observed increase in diagnosis of milder cases of select common malformations.

Resource Utilization for Prenatally Diagnosed Single-Ventricle Cardiac Defects: A Philadelphia Fetus-to-Fontan Cohort Study.

Background Healthcare resource utilization is substantial for single-ventricle cardiac defects ( SVCD ), with effort commencing at time of fetal diagnosis through staged surgical palliation. We sought to characterize and identify variables that influence resource utilization for SVCD from fetal diagnosis through death, completed staged palliation, or cardiac transplant. Methods and Results Patients with a prenatal diagnosis of SVCD at our institution from 2004 to 2011 were screened. Patients delivered with intent to treat who received cardiac care exclusively at our institution were included. Primary end points included the total days hospitalized and the numbers of echocardiograms and cardiac catheterizations. Subanalysis was performed on survivors of completed staged palliation on the basis of Norwood operation, dominant ventricular morphology, and additional risk factors. Of 202 patients born with intent to treat, 136 patients survived to 6 months after completed staged palliation. The median number of days hospitalized per patient-year was 25.1 days, and the median numbers of echocardiograms and catheterizations per patient-year were 7.2 and 0.7, respectively. Mortality is associated with increased resource utilization. Survivors had a cumulative length of stay of 57 days and underwent a median of 21 echocardiograms and 2 catheterizations through staged palliation. Right-ventricle-dominant lesions requiring Norwood operation are associated with increased resource utilization among survivors of staged palliation. Conclusions For fetuses with SVCD , those with dominant right-ventricular morphology requiring Norwood operation demand increased resource utilization regardless of mortality. Our findings provide insight into care for SVCD , facilitate precise prenatal counseling, and provide information about the resources utilized to successfully manage SVCD .

Preoperative Ultrasound Prediction of Essential Landmarks for Successful Fetoscopic Laser Treatment of Twin-Twin Transfusion Syndrome.

INTRODUCTION: The insertion site of the fetoscope for laser occlusion (FLOC) treatment of twin-twin transfusion syndrome (TTTS) determines the likelihood of treatment success. We assessed a standardized preoperative ultrasound approach for its ability to identify critical landmarks for successful FLOC. METHODS: Three surgeons independently performed preoperative ultrasound and deduced the likely orientation of the intertwin membrane (ITM) and vascular equator (VE) based on the sites of the cord insertion, the lie of the donor, and the size discordance between twins. At FLOC, these landmarks were visually verified and compared to preoperative assessments. RESULTS: Fifty consecutive FLOC surgeries had 127 preoperative assessments. Basic ITM and VE orientation were accurately predicted in 115 (90.6%), 109 (85.8%), and 105 (82.7%) assessments. Predictions were anatomically correct in 96 (75.6%), 70 (55.1%), and 58 (45.7%) assessments with no differences in accuracy between operators of different training level. The ITM/VE relationship was most poorly predicted in stage-3 TTTS (χ2, p = 0.016). CONCLUSION: In TTTS, preoperative ultrasound identification of placental cord insertion sites, lie of the donor twin, and size discordance enables preoperative prediction of key landmarks for successful FLOC.

Singleton fetal growth kinetics depend on the mode of conception.

OBJECTIVE: To study the impact of in vitro fertilization, with or without intracytoplasmic sperm injection (IVF/ICSI), frozen-embryo transfer (FET), and intrauterine insemination (IUI) on fetal growth kinetics throughout pregnancy and to compare the different modes of conception. DESIGN: Retrospective cohort study. SETTING: University. PATIENT(S): A total of 560 singleton pregnancies were included (96 IVF, 210 ICSI, 121 FET, and 133 IUI). INTERVENTION(S): None. MAIN OUTCOME MEASURE(S): We compared crown-rump length (CRL) at the first trimester (T1: 11-13 weeks of gestation [WG] + 6 days), estimated fetal weight (EFW) at the second (T2: 21-23 WG + 6 days) and third (T3: 31-33 WG + 6 days) trimesters, and birth weight (BW) z-scores with those in the reference curves (Papageorghiou for T1, and Ego M2 for T2, T3, and birth). Multivariate analyses were performed. RESULT(S): For T1, the CRL was longer than the reference curve whatever the assisted reproductive technique (ART). For T2, EFW was significantly greater for all groups compared with the reference curve, and for T3 only FET singletons had a greater EFW. ICSI, IVF, and IUI singletons had a significantly lower BW compared with reference curves. For all ART fetuses, growth kinetics differed from T2. Only FET fetuses maintained their significantly above-reference growth values. The proportion of fetuses for which at least one period of growth loss was observed from T2 to birth was higher after IVF, ICSI, and IUI than after FET. CONCLUSION(S): For the first time, we have highlighted that fetal growth kinetics differed from T2 depending on the ART protocols used. They could have an impact on trophoblastic invasiveness and might lead to long-term health effects.

Ultrasound screening for complications in twin pregnancy.

In the decades since the introduction of ultrasound into routine obstetric practice, the advantages of ultrasound have moved beyond the simple ability to identify multiple pregnancies antenatally to the possibility of screening them for fetal anomalies, pre-eclampsia, preterm birth, and the complications specific to monochorionic pregnancies. Screening studies have often excluded twins because physiological differences impact on the validity and sensitivity of the screening tests in routine use in singletons, and therefore, the evidence of screening performance in multiple pregnancy lags behind the evidence from singleton pregnancies. In general, most pregnancy complications are more common in twin pregnancy, but screening tests are less accurate or well validated. In this review article we present the current state of the evidence and avenues for future research relating to the use of ultrasound and screening for complications in twin pregnancies, including the monochorionicity-related pathologies, such as twin-twin transfusion syndrome, selective growth restriction, twin anaemia-polycythaemia sequence and twin reversed arterial perfusion sequence.

Advances in fetal echocardiography.

The development of fetal echocardiography and success in prenatal cardiac screening programs over the past 30 years has been driven by technical innovation and influenced by the different approaches of the various specialties practicing it. Screening for congenital heart defects no longer focuses on examining a limited number of pregnant women thought to be at increased risk, but instead forms an integrated part of a high-quality anatomical ultrasound performed in the second trimester using the 'five-transverse view' protocol. A prenatal diagnosis is feasible in almost all cardiac lesions and the advantages to parents and to health professionals are well recognized. Prenatal evaluation can usually determine the level of care required at delivery, thereby reducing perinatal morbidity. However, only half of the babies undergoing surgery within the first year of life have a prenatal detection, and practical training programs to support and provide feedback to sonographers remain essential for continued improvement.

Screening for fetal growth restriction and placental insufficiency.

Fetal growth restriction (FGR) continues to be a leading cause of preventable stillbirth and poor neurodevelopmental outcomes in offspring, and furthermore is strongly associated with the obstetrical complications of iatrogenic preterm birth and pre-eclampsia. The terms small for gestational age (SGA) and FGR have, for too long, been considered equivalent and therefore used interchangeably. However, the delivery of improved clinical outcomes requires that clinicians effectively distinguish fetuses that are pathologically growth-restricted from those that are constitutively small. A greater understanding of the multifactorial pathogenesis of both early- and late-onset FGR, especially the role of underlying placental pathologies, may offer insight into targeted treatment strategies that preserve placental function. The new maternal blood biomarker placenta growth factor offers much potential in this context. This review highlights new approaches to effective screening for FGR based on a comprehensive review of: etiology, diagnosis, antenatal surveillance and management. Recent advances in novel imaging methods provide the basis for stepwise multi-parametric testing that may deliver cost-effective screening within existing antenatal care systems.

First and second trimester screening for fetal structural anomalies.

Fetal structural anomalies are found in up to 3% of all pregnancies and ultrasound-based screening has been an integral part of routine prenatal care for decades. The prenatal detection of fetal anomalies allows for optimal perinatal management, providing expectant parents with opportunities for additional imaging, genetic testing, and the provision of information regarding prognosis and management options. Approximately one-half of all major structural anomalies can now be detected in the first trimester, including acrania/anencephaly, abdominal wall defects, holoprosencephaly and cystic hygromata. Due to the ongoing development of some organ systems however, some anomalies will not be evident until later in the pregnancy. To this extent, the second trimester anatomy is recommended by professional societies as the standard investigation for the detection of fetal structural anomalies. The reported detection rates of structural anomalies vary according to the organ system being examined, and are also dependent upon factors such as the equipment settings and sonographer experience. Technological advances over the past two decades continue to support the role of ultrasound as the primary imaging modality in pregnancy, and the safety of ultrasound for the developing fetus is well established. With increasing capabilities and experience, detailed examination of the central nervous system and cardiovascular system is possible, with dedicated examinations such as the fetal neurosonogram and the fetal echocardiogram now widely performed in tertiary centers. Magnetic resonance imaging (MRI) is well recognized for its role in the assessment of fetal brain anomalies; other potential indications for fetal MRI include lung volume measurement (in cases of congenital diaphragmatic hernia), and pre-surgical planning prior to fetal spina bifida repair. When a major structural abnormality is detected prenatally, genetic testing with chromosomal microarray is recommended over routine karyotype due to its higher genomic resolution.

Outcome and Treatment of Antenatally Diagnosed Nonimmune Hydrops Fetalis.

INTRODUCTION: The objectives of this study were to evaluate the outcome of nonimmune hydrops fetalis in an attempt to identify independent predictors of perinatal mortality. MATERIAL AND METHODS: A retrospective cohort study was conducted including all cases of nonimmune hydrops from two tertiary care centers. Perinatal outcome was evaluated after classifying nonimmune hydrops into ten etiological groups. We examined the effect of etiology, site of fluid accumulation, and gestational age at delivery on postnatal survival. Neonatal mortality and hospital discharge survival were compared between the expectant management and fetal intervention groups among those with idiopathic etiology. RESULTS: A total of 142 subjects were available for analysis. Generally, nonimmune hydrops carried 37% risk of neonatal mortality and 50% chance of survival to discharge, which varies markedly based on the underlying etiology. Ascites was an independent predictor of perinatal mortality (p value = 0.003). There was nonsignificant difference in neonatal mortality and hospital discharge survival among idiopathic cases that were managed expectantly versus those in whom fetal intervention was carried out. DISCUSSION: The outcome of nonimmune hydrops varies largely according to the underlying etiology and the presence of ascites is an independent risk factor for perinatal mortality. In our series, fetal intervention did not offer survival advantage among fetuses with idiopathic nonimmune hydrops.