Adrian S. Woolf, MD

• Professor of Nephrology and Head of Nephro-Urology Unit,
• Institute of Child Health, University College London,
• Great Ormond Street Hospital for Children, London, United Kingdom

The options include expectant management hypertension 2014 proven furosemide 40mg, transfer of care to a specialised centre fetal arrhythmia 36 weeks order generic furosemide on-line, invasive diagnostic procedures or termination of pregnancy arteria angularis furosemide 40mg with visa. It has been shown that parents prefer comprehensive information to make an informed choice heart attack vital signs furosemide 40 mg on line, particularly including information about the quality of life heart attack in men buy 100mg furosemide with mastercard. The identification of extracardiac anomalies or a chromosomal or genetic abnormality may significantly alter the prognosis blood pressure chart kpa purchase generic furosemide on-line. The most important reason to optimise prenatal screening is its direct impact on postnatal outcome. The initial perception that this was entirely postnatal in origin, associated with perinatal events and cardiac surgery is changing. This approach has been broadly accepted by the boards of international societies providing ultrasound guidelines. When an abnormality is suspected in these views, the pregnancy should be referred to a team that can perform a comprehensive fetal echocardiogram, which is intended to be diagnostic. The addition of colour and pulse-wave Doppler evaluation of cardiac flows and interrogation of the systemic and pulmonary venous systems complete the comprehensive diagnostic fetal echocardiogram. Most fetal medicine specialists also routinely incorporate umbilical cord and middle cerebral Doppler studies. Experience suggests there is a more limited role for fetal aortic or pulmonary valvuloplasty than was originally anticipated, in part because case selection and timing are difficult to assess. V1, Abdominal situs: fetal lie must be determined so the left and right sidedness of structures can be assessed to diagnose complex cardiac malformations accurately. V3 and V4, Great arterial crossover: the Ao arises first, sweeping to the fetal right, and the pulmonary artery crosses over. The great arteries are usually easiest to differentiate by confirming early bifurcation, characteristic of the pulmonary artery. V5, the three-vessel and trachea view enables a comparison of the transverse aortic arch and ductal arch. Additional vessels such as a persistent left superior caval vein or aberrant right subclavian artery may be identified at this level. Specific Lesions Lesion with Abnormal Four-Chamber View Hypoplastic left heart syndrome Overview. The ascending aorta is usually hypoplastic, and the arterial duct supplies blood to the upper half of the body. Pulsed-wave Doppler of the pulmonary veins may demonstrate reversal of the A wave with restrictive atrial septum. The technique uses an extracardiac conduit to direct the inferior vena cava flow into the pulmonary arteries. Although this was formerly mainly attributed to cardiac surgery, recent studies suggest that brain abnormalities are developmental. In severe cases, mitral valve inflow becomes monophasic, and severe regurgitation may be seen. The ascending aorta may show poststenotic dilation beyond the aortic valve or become hypoplastic. Specific features to check at follow-up and perinatal management from biventricular to functionally univentricular. The early signs of AoS may be subtle and are easily missed at second trimester screening. The initial response to AoS may be left ventricular dilatation followed by its involution and secondary damage caused by reduced coronary perfusion and subsequent fibrosis (endocardial fibroelastosis), resulting in poor function. About 45% of fetuses with aortic stenosis will progress to a functionally univentricular circulation, requiring palliative surgery after birth. The initial management of tricuspid atresia depends on the degree of outflow tract obstruction and associated anomalies. If the great arteries are discordant, coarctation or extended arch repair may be necessary. Survival of tricuspid atresia was 83% at 1 year with no late deaths in a large multicentre study. Pulmonary atresia may be membranous (80%) or a long segment and muscular obstruction (20%). The pulmonary vasculature is supplied by reversed flow (leftto-right shunting) through the arterial duct. Outflow tract hypoplasia and obstruction are confirmed with colour and pulsed-wave Doppler. This may be associated with ventriculocoronary fistulas, confirmed by colour Doppler and bidirectional high velocity flow on pulsedwave Doppler. Colour Doppler confirms flow across the pulmonary valve, and the peak velocity can be estimated by pulsed-wave or continuous-wave Doppler. No forward flow is seen across the pulmonary valve and the small main pulmonary artery is supplied by reversal of flow in the arterial duct (B). The pulmonary valve is not opened in such cases because this will result in coronary steal and myocardial infarction. A biventricular outcome may be feasible in early connected to a dominant ventricle. Abdominal situs should be carefully assessed because right or left atrial isomerism may occur. Check for reversal of flow in the arterial duct or aortic arch, suggesting duct-dependent pulmonary or systemic circulations respectively. The valve is dysplastic, resulting in severe tricuspid regurgitation and right atrial dilatation. A systemic-to-pulmonary arterial shunt is required in case of insufficient forward flow through the pulmonary valve, or aortic arch repair for CoA. Reduced forward flow contributes to hypoplasia of the pulmonary vasculature and pulmonary atresia often develops prenatally. These require urgent referral to a fetal centre for management of arrhythmia and monitoring for maternal mirror syndrome. If so, plan for delivery in a tertiary care centre to provide the appropriate postnatal support or make arrangements for palliative care. In a large retrospective multicentre series, the fetal mortality rate was 17%, and the overall perinatal mortality rate 45%. The visualisation of a septum primum more anteriorly allows their differentiation. There is no fish-mouth mitral valve because even if separate valves are identified, the left valve opens to the ventricular septum. The atrial and ventricular component of the septal defect are shown by the two arrows allowing mixing of blood. Atrioventricular septal defect accounts for about Check abdominal situs and position of cardiac apex. The septal defects are of variable size and may even be absent, which makes prenatal detection of this condition more difficult. In uncomplicated cases, the size of the atrial and ventricular component of the defect will determine the potential for left-to-right shunting and for cardiac failure in infancy. Most cases will undergo surgery on bypass at about 3 to 6 months of age or earlier if they are symptomatic. The operative mortality rate is less than 5%, and quality of life depends on associated anomalies such as trisomy 21. This allows shunting of blood from left to right, resulting in increased pulmonary circulation, which may present with poor feeding, increased respiratory effort and reduction in weight gain. To reduce false-positive and false-negative diagnoses, the four-chamber view should be obtained with the ultrasound beam perpendicular to the septum. The first step is to evaluate the position of the abdominal vessels and their relationship to the spine. In the coronal plane, the azygos and aorta lie side by side with flow in opposite directions. An additional ascending or descending vein may be identified draining the pulmonary veins above the heart (supracardiac) or below the diaphragm (infracardiac). Provided the perinatal period is stable, the ideal time for this is at about 4 to 6 weeks of age when the pulmonary pressures have fallen and the significance of the shunt can be assessed more reliably. Large defects may become symptomatic by about 4 to 6 weeks and can be managed medically by diuretics while surgery or, more rarely, interventional catheter closure is planned. In cardiology, it is defined based on the morphology of the atrial appendages rather than arrangement of the abdominal organs. The pathophysiology in heterotaxy depends on associated cardiac and extracardiac malformations. However, there is increased mortality rate for all surgical procedures in children with heterotaxy compared with those with normal situs. Both can be considered as normal variants in the absence of other cardiac and extracardiac anomalies. The dilated coronary sinus may alter left heart flows in first trimester, leading to a degree of left heart hypoplasia, the most important pathological effect being CoA. Lesions Requiring Views of the Outflow Tracts Complete transposition of the great arteries Overview. In a longitudinal view, the azygos and aorta can be visualised side by side with flow in opposite directions. The portal veins should be sought and the connection of umbilical and systemic veins identified. Prostaglandin infusion worsens oxygenation with this pathophysiology and should not be administered before early expert assessment of the atrial communication after birth. The postoperative survival rate with the arterial switch procedure is excellent (>95%) and usually results in a normal quality of life. The hyperoxigenation test after 34 gestational weeks may demonstrate responsiveness of the pulmonary vascular bed and the ability for better postnatal adaptation. Double discordancy may be suspected by an abnormal cardiac apex; it is often located centrally or rightward and the heart appears rounded. The trabeculated ventricle is on the left side, and its inlet valve may be displaced apically and regurgitant if there is Ebstein malformation. If there is insufficient atrial mixing, a balloon atrial septostomy is indicated to increase systemic oxygen saturation. This is a complex and relatively rare procedure that should only be done in centres with experience. The last feature (iv), right ventricular hypertrophy, is usually now only observed postnatally in cases when children do not have access to timely surgical repair. It is characterised by massively dilated branch pulmonary arteries and severe pulmonary regurgitation. Left-axis deviation may be the first clue that a fetal conotruncal cardiac malformation is present. With adequately sized pulmonary arteries, the infants are usually asymptomatic after birth. Surgical repair is usually performed at around 4 to 6 months with a survival of greater than 95% and a good outcome. Overall, ToF is associated with a poorer prognosis than expected from the cardiac features alone because of the frequent association with other anomalies. The term double outlet right ventricle is used when cardiac and extracardiac association, generally, the prognosis is poorer than anticipated from the cardiac findings alone. Associated anomalies mation characterised by a single outflow tract perfusing the systemic and pulmonary circulations. The four-chamber view may show any range of malformation, from normal to a singleventricle appearance with dominant large and small rudimentary chamber. Pulsed-wave Doppler will quantify pulmonary or aortic stenosis and diastolic arch abnormalities in CoA. Colour Doppler demonstrates blood flow from both ventricles into the common trunk and confirms the presence of stenosis or regurgitation. The shortaxis view of the truncal valve may show an abnormal number of valve leaflets. Specific features to check at follow-up and perinatal management Treatment and outcome. Some combinations of lesions will result in a biventricular outcome, some will require conduit placement and others will follow a univentricular pathway from birth. Pulsed-wave Doppler shows increased flow at the aortic isthmus during diastole (B). Outcome after surgery is good provided there is no 22q11 deletion or associated cardiac or extracardiac complications. Conduit replacements are required during childhood and adulthood, which may have an important impact on future morbidity. An increased distance between the left common carotid and the left subclavian artery may be a diagnostic clue. The sagittal views characteristically show continuation of the slim ascending aorta into the fetal neck as the brachiocephalic. Bicuspid aortic valve is overrepresented and found in up to 50% of infants with CoA. Interrupted aortic arch requires early surgery, but for CoA, the timing of surgical repair depends on its severity.

There are also some dichotomous ultrasound markers arterial network cheap furosemide 100 mg without a prescription, which present difficulties of quality assessment hypertension what is it order furosemide 100mg with amex. Multimarker Testing Strategies A large number of marker combinations have been evaluated untreated prehypertension cheap 40mg furosemide amex. The blood sample can be taken from 10 to 13 weeks arrhythmia cough purchase furosemide amex, although some laboratories accept an earlier sample 4 purchase furosemide 100mg online. Those with risks below this cutoff are offered the quad test markers with their final risk based on all markers xeloda arrhythmia buy furosemide 40mg on-line. Contingent testing is performed as with the stepwise sequential test except that second trimester marker testing is contingent on the first trimester results. Very-high-risk patients are referred for diagnostic testing, and low-risk patients only have first trimester screening performed. Only 10% to 20% of women with borderline high-risk results are offered the second trimester stage. In so far as the aim of screening is to reduce the prevalence at birth, the former is most appropriate. Because screening is also about providing women with information on which to base an informed choice about prenatal diagnosis, it can be argued that the latter is more relevant. If term risks are used, they can be estimated from the agespecific birth prevalence with an additive component because of family history. Because all the principal markers follow an approximately log Gaussian distribution over most of the MoM range, a multivariate log-Gaussian model is used. There will be MoM values beyond which there is substantial deviation from the model. Parameters are best derived by meta-analysis, excluding the viability bias that occurs in prospective intervention studies or at least adjusting for bias. This form of risk calculation assumes that the marker levels and maternal age are independent determinants of risk and that the marker levels are unrelated to the probability of intrauterine survival. Although there is evidence that extreme values of biochemical and ultrasound markers can be associated with increased fetal demise,6 values within the truncation limits will not be affected. The serum markers, when expressed in MoMs, are negatively correlated with maternal weight. This is usually explained in terms of dilution: a fixed mass of chemical produced in the fetoplacental unit is diluted by a variable volume in the maternal unit. However, this cannot be the only factor involved because the extent of correlation differs between the markers. As with maternal weight, adjustment can be carried out by dividing the observed MoM by the average value in the local population according to smoking status and ethnicity. The correction factors used for different ethnic groups appear to differ according to gestational age. Fetal subcutaneous oedema in the area Gestational Dating Accurate determination of gestational age is a key to both timing of the screening test and for MoM calculation. As pregnancy continues, fetal measurements are somewhat less precise and a difference of more than 7 days is required. Monte-Carlo stimulation also uses the Gaussian distributions, but instead of rigid summation over a fixed grid, it uses a random sample of points in multidimensional space to simulate the outcome of a population being screened. In this articler, performance is presented using all three methods, and model predictions are based on Gaussian distributions with parameters derived by metaanalysis and use the standard maternal age distribution. The best results are obtained when MoMs are based on normal medians calculated to the day of gestation using regression; some practitioners use centre- or operator-specific curves. This is a protease for insulinlike growth factor binding protein 4 and may therefore play a role in regulating fetal growth and trophoblast proliferation. This is a glycoprotein hormone normally found in blood and urine only during pregnancy. This hormone is composed of two nonidentical noncovalently linked subunits, and, that exist either free or bound to each other and is produced by the syncytiotrophoblast cells of the placenta. Some of these include development of syncytiotrophoblast cells, mitotic growth and differentiation of the endometrium, localised suppression of the maternal immune system, modulation of uterine morphology and gene expression and coordination of intricate signal transduction between the endometrium. The table shows that performance is better earlier than later in the 11- to 13-week window. This suggests another protocol, whereby women with borderline risks based on the combined test are referred to a centre that specialises in using the more advanced markers. Both require recognition of the embryonic anatomy and proficiency in using pulse-wave Doppler. Early Anatomy Scan to Determine Ultrasound Markers of Down Syndrome Cystic hygroma is defined as an enlarged hypoechoic space at the back of the fetal neck, extending along the length of the fetal back, and in which septations are clearly visible. It is associated with a very high risk of aneuploidy and a general poor prognosis. However, the recent development of high-frequency transvaginal ultrasound transducers combined with the improved technology of sonographic equipment has led to vastly enhanced ultrasound resolution and improved visualisation of fetal anatomy earlier in pregnancy. Model predictions are that 95% of cases with one or the other type of aneuploidy can be detected for a 0. Three markers that can be determined in the early second trimester are potentially useful. Additional facial markers have been investigated that could increase detection even further. This can be improved by the routine simultaneous determination of ultrasound markers. In addition, various soft sonographic markers that may be detected during the sonographic study have been identified; the presence of one or more such markers suggests an increased risk for aneuploidy. Women who do not present until the late second trimester could be screened using the anomaly scan. Sequential Screening the model predicted performance of the four protocols using both first and second trimester markers is shown in Table 18. The serum integrated test has a performance worse than the first trimester combined test but better than the second trimester quad test. Given the human and practical benefits and lower costs, the contingent test should be the sequential strategy of choice. Anomaly Scan Results It is common for a woman who had a borderline positive combined test to delay a decision over invasive prenatal diagnosis until the second trimester ultrasound examination has been carried out. Similarly, most women with negative combined test results eventually have a routine anatomy scan. The detection of an anomaly or a soft marker generates considerable anxiety, despite the normal result of the combined test. Often this may only be resolved by invasive testing, but again, it is best to formally revise the original risk. Contingent: as stepwise but second stage only if risk above 1 in 1500 (1 in 1200 at midtrimester). Final risk cutoffs for the Integrated test, the second stage of the stepwise sequential and contingent tests based on all first and second trimester markers included. Although there may be clinical utility in these ad hoc uses of the anatomy scan to modify combined test results, it would not be an effective protocol if adopted routinely. More data are needed for other markers, and there is also a need for further clarification for various subgroups of women based on their type of diabetes and various therapies. For triplets, regardless of chorionicity, screening must only be based on ultrasound markers. Increased marker concentrations could arise if there is residual trophoblast activity from the deceased twin or slow clearance of the proteins from the maternal circulation. Furthermore, the deceased twin may well have had a chromosome abnormality, given the very high aneuploidy rate in early singleton miscarriages. The question that therefore arises is whether serum screening markers can reliably be used to assess risk. In one study, first trimester serum markers were measured in cases in which the demise was thought to have occurred within 4 weeks of testing. Previous Test Result For each of the serum markers, there is a positive correlation between the values measured in consecutive pregnancies. In theory, taking into account the results from a previous pregnancy could therefore improve screening efficacy. Incidental Diagnoses A wide range of abnormalities are detected incidentally with extremely high or low marker levels; most fall into five groups. Assisted Reproduction Technologies When a nonspontaneous pregnancy has been achieved in a subfertile couple, often after a long waiting period and with some difficulty, there is additional reason to avoid invasive prenatal diagnosis. If a donor egg was used, risk is calculated using the age of the donor at the time of collection. The most consistent finding for first trimester serum Other Adverse Outcomes Smith-Lemli-Opitz Syndrome this is a rare autosomal recessive disorder with an incidence of about 1 per 20,000 to 40,000 births. Clinical features include mental retardation and skeletal, genital, cardiac, pulmonary and renal malformations. Maternal-Fetal Conditions Nicolaides has proposed that when women undergo the combined test they can also be assessed for their risk for common maternal-fetal conditions that usually appear during the third trimester, such as preeclampsia, growth restriction, preterm delivery and fetal macrosomia. This concept has been most fully developed for preeclampsia, a complex disorder with variable presentation and outcome that starts when the uterine spiral arteries fail to remodel in early pregnancy. In normal pregnancies, trophoblasts invade the spiral arteries, replacing the smooth muscle and endothelium. The remodelled arteries have reduced resistance and therefore increased blood flow into the placenta. Low-dose aspirin has been shown to reduce the uterine artery Doppler pulsatility index, indicating improved blood flow118, but until recently, the consensus was that it does not prevent preeclampsia. However, a meta-analysis of nine published trials, in which treatment began before 16 weeks, has led to a shift in the consensus. However, unlike aneuploidy, there are distinct forms of preeclampsia: one associated with maternal mortality and morbidity, prematurity, growth restriction and fetal death and another developing around the time of delivery, more often having a benign course, and not associated with prematurity. Classifications based on gestation at delivery are more objective than gestation of onset or severity. The best estimate of screening performance can be derived from the large population-based study at Kings College Hospital, London. It is caused by deficiency of steroid sulfatase, with consequent abnormal estriol biosynthesis, resulting in extremely low maternal serum uE3 levels. In one series of nine pregnancies with low or absent second trimester serum uE3 levels, six were found to have a complete and one a partial deletion of the steroid sulfatase deficiency gene. Fetal Demise As previously noted, trisomies 21, 18 and 13 are all associated with high rates of in utero death, and it is likely that cases with the most extreme marker levels are at the highest risk for demise. The same patterns for the markers can also be seen for euploid fetuses when there is an impending or actual fetal loss. This can be combined with the lifetime cost of an affected individual, restricted to the direct medical, educational and social service costs or including indirect societal costs such as loss of income. In addition to the marginal cost, public health planners need to consider the total cost of changing to the new strategy or the average cost per woman screened. In this section, we will discuss the relative advantages and disadvantages of each approach and the impact on overall screening performance. Among the former are major cardiac defects, and this aspect alone may be sufficient to justify retaining the scan. A case may also be made for retaining some first trimester biochemical markers, specifically for use in screening for adverse pregnancy outcomes such as preeclampsia and growth restriction. These outcomes are much more common than all aneuploidies combined, and a large proportion can be prevented through first trimester screening followed by daily low-dose soluble aspirin in screen-positive women. Prenatal screening and diagnostic programs therefore need to have access to counsellors experienced in the clinical and social aspects. Retrospective quality assurance measures include periodic review of control data, continuous monitoring of MoM values, screen-positive rates and, when possible, collection of pregnancy outcome data. Planning a Program Early screening and diagnosis is highly advantageous because it provides earlier reassurance, and if termination of pregnancy is chosen, it can be completed earlier in pregnancy when the procedure is clinically easier and safer126; it is also emotionally easier for patients who undergo termination before fetal movements are felt. Optimal design of a new screening program therefore focuses on early testing whenever possible. Although the emphasis is on early screening and diagnosis, it is recognised that not all patients will present for prenatal care early enough, and some tests. Until recently, the design of a new prenatal screening program was largely focused on the constraints of invasive testing, specifically, minimising the number of invasive procedure-related fetal losses and ensuring the costs of the invasive testing were manageable. There were a wide range of serum and ultrasound markers available, and the design of the screening was therefore determined largely by the availability of sonographers who were proficient in biometry, gestational age of women referred for screening, and other practical considerations such as costs and individual patient preferences. Components of variance which differ locally will include analytic precision (assay performance varies) and gestational error which is largely dependent on the extent to which ultrasound dating is carried out before testing. To some extent, the phenomenon also occurs with other markers but is not as obvious. In practice, the cutoff is usually determined by the recommendation of national or international bodies. There is a growing recognition that conventional prenatal screening tests have an important role in the identification of nonchromosomal fetal disorders and pregnancy complications. Women will require additional prenatal counselling as these advances are introduced into routine prenatal care. Maternal serum alpha fetoprotein measurement in antenatal screening for anencephaly and spina bifida in early pregnancy. An association between low maternal serum alpha-fetoprotein and fetal chromosome abnormalities. Position statement from the aneuploidy screening committee on behalf of the board of the international society for prenatal diagnosis. Multianalyte maternal serum screening for chromosomal abnormalities and neural tube defects.

In lean women prehypertension pregnant order generic furosemide pills, this probe can provide excellent images blood pressure chart vaughns 1 pagers com cheap furosemide master card, especially of the fetal heart arteria rectalis inferior furosemide 100 mg overnight delivery. The largest study to date heart attack wiki buy furosemide online from canada, on 44 hypertension questions nclex buy generic furosemide online,850 euploid fetuses examined at the time of the nuchal scan blood pressure systolic order 40 mg furosemide mastercard, showed that structural anomalies were observed in 1. The authors state that about one-third of the structural anomalies are amenable to early diagnosis, and about 40% can potentially be detected in the first trimester. The remaining 30% cannot be detected as they become evident or develop only at later stages in pregnancy. Arrays reveal in these fetuses an additional 5% of pathological copy number variants. Early detection offers parents the option to terminate the pregnancy at a stage when termination may be less traumatic. Neurodevelopment starts from the neurulation phase, from around 19 days of embryonic life to around day 26. The neural plate becomes the neural tube, and this further develops into prosencephalon (forebrain), mesencephalon (midbrain), rhombencephalon (hindbrain) and the spinal cord. First Trimester Fetal Brain and Spine Investigation Cranial bone ossification should be completed by 11 weeks. It is helpful to look specifically for bone ossification in the axial and coronal planes. The thin brain mantle is best appreciated anteriorly, lining the large fluid-filled ventricles, an appearance which should not be mistaken for hydrocephalus. Neurosonography can already be performed at 12 to 13 weeks, transabdominally with use of high-frequency transducers (in lean women), or transvaginally. In this condition, the cranial bones and scalp skin have not developed, and the brain tissue is exposed to mechanical and chemical damage. Later in pregnancy, acrania evolves into exencephaly and in the second trimester into anencephaly, in which hardly no more brain tissue is visible. Acrania can be in 12% of cases part of chromosomal or genetic condition (Meckel-Gruber syndrome) or amniotic band syndrome and is associated with aneuploidy in up to 5% of cases. To not miss this condition, an early scan should be performed after 11 weeks by trained sonographers. The prognosis is variable and depends of associated conditions, localisation, size and anatomical structures involved. Open spina bifida (in Europe, 1 in 2000 pregnancies) is caused by failure of closure of the neural tube 24 to 27 days after conception. The developing spinal cord and exposed nerves are damaged by direct trauma and by the neurotoxicity of the amniotic fluid. Recently, a new promising marker for the early detection of spina bifida, the maxillo-occipital line, has been proposed. The anomaly is reported in and is often associated with severe skull and facial defects and with more than two thirds of cases associated with chromosomal abnormalities, mainly trisomies 13 and 18. Lateral ventricles measuring more than 10 mm are mainly a second and third trimester diagnosis. Although normal ranges for the fetal ventricular system in the first trimester are available, mild ventriculomegaly may still be a normal variant. Four lines: (1) superior brain stem border, (2) inferior brain stem border, (3) choroid plexus of the fourth ventricle, and (4) internal border occipital bone. However, there is controversy as to the best test and how it will perform in low-risk populations. Facial Anomalies Recently, a number of studies have suggested that facial anomalies, such as micrognathia and labiopalatum cleft, can already be diagnosed in the first trimester. About 30% are severe and responsible for significant mortality and morbidity in the neonatal period and infancy. A, Axial view of a normal brain on the level of the lateral ventricles and choroid plexuses. However, the use of Doppler in early pregnancy should be limited in time and performed only in high-risk cases. Transvaginal echocardiography can still be superior in obese patients, but reduced flexibility in obtaining different scanning planes limits its accuracy. The resolution can be improved by the use of high-frequency probes22 and of proper image magnification (chest filling at least half of the screen). The use of colour Doppler is essential in early gestation to overcome suboptimal visualisation of the great arteries by grey-scale, with preference for directional power Doppler. The first step is to achieve a good-quality four-chamber view on grey-scale mode and to activate power Doppler. Earlier in gestation, at 11 to 12 weeks, the aorta arch is situated higher than the ductal arch, and in some cases, it is impossible to get a proper V-sign. Colour Doppler shows a single ventricular inflow with angled ventricular filling strips instead of two normal parallel strips. To improve diagnostic ability, we suggest following the course of the great vessels rather than to look at the three-vessel view. Tetralogy of Fallot is commonly associated with chromosomal and genetic conditions and extracardiac anomalies. Coarctation of the aorta is a challenging diagnosis at any stage of gestation because of high rate of false-negative and false-positive findings. We recommend examination of the diameter of the transverse aorta by grey scale and of the direction of the flow in the aorta isthmus by colour or power Doppler. Distinction between CoA and interrupted aortic arch at 11 to 13 weeks is difficult. B, Axial views: four-dimensional echocardiography (spatiotemporal image correlation) combination of diastole and systole on the same image. Repetition of the scan at 16 weeks and, in case of uncertainty, also later in gestation, is mandatory to reduce false-positive and false-negative diagnosis. Thorax, Diaphragm, Abdominal Wall and Bowel the respiratory system develops from the ventral wall of the foregut starting from the third to fourth weeks (embryonic stage) and continues developing during the first 2 years of life and beyond. In the first trimester and up to 17 weeks, the pseudoglandular phase, one of the four developmental phases, occurs. Unilateral or total lung agenesis and laryngeal or tracheal occlusion are rare anomalies, potentially amenable to early prenatal diagnosis in view of their impact on the anatomy of the thorax, but lesions characterised by an echogenic aspect of the lungs, currently grouped under the name congenital pulmonary airways malformation, have never been reported earlier than at 16 weeks. Abdominal Wall Defects Abdominal wall defects can easily be diagnosed in the first trimester. This suggests that in the large majority of bowel-only exomphalos cases diagnosed in the first trimester, this can be regarded as a delayed resolution of the physiological gut herniation within the umbilical cord. To improve the prognostic value of first trimester investigation, Tassin and colleagues investigated whether a standardised ratio (mean exomphalos diameter/transverse abdominal diameter) and exomphalos contents is predictive of neonatal morbidity. Nine percent of the fetuses diagnosed with isolated exomphalos before 14 weeks of gestation had severe malformations diagnosed later in pregnancy. When exomphalos is not associated with aneuploidies or other malformations, its size could be predictive of prenatal and postnatal outcome. It is characterised by a full-thickness defect of the anterior abdominal wall, typically on the right side of a normally inserted umbilical cord, associated with evisceration of the abdominal contents. Chronic stress and violence are risk factors for gastroschisis; moreover, mothers of fetuses with gastroschisis are younger, smokers, more often users of recreational drugs and exposed to domestic violence than control participants. Management of gastroschisis diagnosed in the first trimester differs from management of exomphalos because, if the defect is olated, karyotyping is not indicated. Bladder exstrophy (see also the discussion of urinary tract anomalies) is a rare (1 in 30,000) defect of closure of the lower abdominal wall, characterised by protrusion and eversion of the bladder outside the peritoneal cavity. When no intraabdominal normally filled bladder is seen at the first trimester scan or the distance between umbilical cord insertion and the genital tubercle is shortened, bladder exstrophy should be suspected. The prenatal findings are omphalocele, a skin-covered lumbosacral neural tube defect, lack of visualisation of the bladder and limb defects. Anal atresia, bladder exstrophy and abnormal genitalia are more difficult to visualise in the first trimester. Therefore a normal amount of amniotic fluid in early pregnancy does not exclude a severe genitourinary anomaly with no urine production. At this stage, fetal renal assessment can include the visualisation of both kidneys and of a filled bladder. This can be a normal variant, but it can also be a feature of renal dysplasia, chromosomal abnormalities, polycystic disease and other congenital syndromes. In case of persisting failure to visualise it, bilateral renal pathology or bladder exstrophy should be suspected. The underlying cause of this rather rare condition ranges from lower urinary tract obstructions, to chromosomal abnormalities and congenital syndromes, to transient enlargement with spontaneous resolution and a normal urinary system after birth. From a study of 145 cases of first trimester megacystis, the outcome was mainly determined by the degree of bladder enlargement: moderate enlargement, with a longitudinal diameter of 15 mm or less, was associated with chromosomal abnormalities or spontaneous resolution (2 weeks later) in euploid fetuses. However, severe distension, with a longitudinal diameter greater than 15 mm, mainly progressed to obstructive uropathy. We strongly discourage rushed decisions to terminate a pregnancy after an early diagnosis of anomalies, with a few exceptions, such as acrania, anencephaly or body-stalk anomaly. We recommend that caution should be used in alarming women in case of uncertain findings or reassuring too early high-risk women because certain anomalies may only become visible at the midtrimester scan or even later. Severe, often lethal anomalies are diagnosed early, offering parental reproductive choice. Exposure of young fetuses to long-lasting Doppler examination should always be avoided. A close look at early embryonic development with the high-frequency transvaginal transducer. Screening for fetal anomalies during the first trimester of pregnancy: transvaginal versus transabdominal sonography. Transvaginal ultrasonography at early pregnancy cannot be used alone for targeted organ ultrasonographic examination in a high-risk population. Screening for trisomy 21 by maternal age, fetal nuchal translucency thickness, free beta human chorionic gonadotropin, and pregnancy associated plasma protein-A. Systematic review of first-trimester ultrasound screening for detection of fetal structural anomalies and factors that affect screening performance. Sonography in obese and overweight pregnant women: clinical, medicolegal and technical issues. Early second-trimester sonography to improve the fetal anatomic survey in obese patients. Increased nuchal translucency thickness and normal karyotype: time for parental reassurance. Nuchal translucency and fetal cardiac defects: a pooled analysis of major fetal echocardiography centers. Screening for chromosomal abnormalities at 10-14 weeks: the role of ductus venosus blood flow. Likelihood ratio for trisomy 21 in fetuses with tricuspid regurgitation at the 11 to 13 + 6-week scan. Cardiac defects, nuchal oedema and abnormal lymphatic development are not associated with morphological changes in the ductus venosus. Detailed screening for fetal anomalies and cardiac defects at the 11-13-week scan. Risk of selected structural abnormalities in infants after increased nuchal translucency measurement. Genomic microarray in fetuses with increased nuchal translucency and normal karyotype: a systematic review and meta-analysis. Fetal intracranial anatomy in the first trimester of pregnancy: transvaginal ultrasonographic evaluation. Long-term psychological consequences of pregnancy termination for fetal abnormality: a cross sectional study. Prospective detection of open spina bifida at 11-13 weeks by assessing intracranial translucency and posterior brain. Screening for fetal spina bifida by ultrasound examination in the first trimester of pregnancy using fetal biparietal diameter. Abnormal sonographic appearance of posterior brain at 11-14 weeks and fetal outcome. Detecting open spina bifida at the 11-13-week scan by assessing intracranial translucency and the posterior brain region: mid-sagittal or axial plane Chromosomal abnormalities associated with neural tube defects (I): full aneuploidy. Prospective study of intracranial translucency and the posterior brain in normal fetuses at the 11- to 13-week scan. Brain stem/brain stem occipital bone ratio and the four-line view in nuchal translucency images of fetuses with open spina bifida.

Generic furosemide 40 mg visa. What You Should Know About Blood Pressure Pills by Len Saputo MD.