J. S. Carvalho

ISUOG Practice Guidelines (updated): sonographic screening examination of the fetal heart

The International Society of Ultrasound in Obstetrics and Gynecology (ISUOG) is a scientific organization that encourages safe clinical practice and high-quality teaching and research related to diagnostic imaging in women’s healthcare. The ISUOG Clinical Standards Committee (CSC) has a remit to develop Practice Guidelines and Consensus Statements that provide healthcare practitioners with a consensus-based approach for diagnostic imaging. They are intended to reflect what is considered by ISUOG to be the best practice at the time at which they are issued. Although ISUOG has made every effort to ensure that Guidelines are accurate when issued, neither the Society nor any of its employees or members accept any liability for the consequences of any inaccurate or misleading data, opinions or statements issued by the CSC. The ISUOG CSC documents are not intended to establish a legal standard of care because interpretation of the evidence that underpins the Guidelines may be influenced by individual circumstances, local protocol and available resources. Approved Guidelines can be distributed freely with the permission of ISUOG (info@isuog.org).

Development of Z-scores for fetal cardiac dimensions from echocardiography

Z‐scores for cardiac dimensions are well established in postnatal life, but have yet to be developed for fetal cardiac dimensions. These would be of real advantage to the clinician in accurately quantifying size and growth of cardiac dimensions and to the researcher by allowing mathematical comparison of growth in differing subgroups of a disease. The purpose of this observational study, conducted at tertiary fetal medicine and cardiology units, was to produce formulae and nomograms allowing computation of Z‐scores for fetal cardiac dimensions from knowledge of femur length (FL), biparietal diameter (BPD) or gestational age (GA) using fetal echocardiography.

Isolated Atrioventricular Block in the Fetus A Retrospective, Multinational, Multicenter Study of 175 Patients

Background— Isolated complete atrioventricular block in the fetus is a rare but potentially lethal condition in which the effect of steroid treatment on outcome is unclear. The objective of this work was to study risk factors associated with death and the influence of steroid treatment on outcome. Methods and Results— We studied 175 fetuses diagnosed with second- or third-degree atrioventricular block (2000–2007) retrospectively in a multinational, multicenter setting. In 80% of 162 pregnancies with documented antibody status, atrioventricular block was associated with maternal anti-Ro/SSA antibodies. Sixty-seven cases (38%) were treated with fluorinated corticosteroids for a median of 10 weeks (1–21 weeks). Ninety-one percent were alive at birth, and survival in the neonatal period was 93%, similar in steroid-treated and untreated fetuses, regardless of degree of block and/or presence of anti-Ro/SSA. Variables associated with death were gestational age <20 weeks, ventricular rate ≤50 bpm, fetal hydrops, and impaired left ventricular function at diagnosis. The presence of ≥1 of these variables was associated with a 10-fold increase in mortality before birth and a 6-fold increase in the neonatal period independently of treatment. Except for a lower gestational age at diagnosis in treated than untreated (23.4±2.9 versus 24.9±4.9 weeks; P =0.02), risk factors were distributed equally between treatment groups. Two-thirds of survivors had a pacemaker by 1 year of age; 8 children developed cardiomyopathy. Conclusions— Risk factors associated with a poor outcome were gestation <20 weeks, ventricular rate ≤50 bpm, hydrops, and impaired left ventricular function. No significant effect of treatment with fluorinated corticosteroids was seen. # Clinical Perspective {#article-title-22}Background— Isolated complete atrioventricular block in the fetus is a rare but potentially lethal condition in which the effect of steroid treatment on outcome is unclear. The objective of this work was to study risk factors associated with death and the influence of steroid treatment on outcome. Methods and Results— We studied 175 fetuses diagnosed with second- or third-degree atrioventricular block (2000–2007) retrospectively in a multinational, multicenter setting. In 80% of 162 pregnancies with documented antibody status, atrioventricular block was associated with maternal anti-Ro/SSA antibodies. Sixty-seven cases (38%) were treated with fluorinated corticosteroids for a median of 10 weeks (1–21 weeks). Ninety-one percent were alive at birth, and survival in the neonatal period was 93%, similar in steroid-treated and untreated fetuses, regardless of degree of block and/or presence of anti-Ro/SSA. Variables associated with death were gestational age <20 weeks, ventricular rate ⩽50 bpm, fetal hydrops, and impaired left ventricular function at diagnosis. The presence of ≥1 of these variables was associated with a 10-fold increase in mortality before birth and a 6-fold increase in the neonatal period independently of treatment. Except for a lower gestational age at diagnosis in treated than untreated (23.4±2.9 versus 24.9±4.9 weeks; P=0.02), risk factors were distributed equally between treatment groups. Two-thirds of survivors had a pacemaker by 1 year of age; 8 children developed cardiomyopathy. Conclusions— Risk factors associated with a poor outcome were gestation <20 weeks, ventricular rate ⩽50 bpm, hydrops, and impaired left ventricular function. No significant effect of treatment with fluorinated corticosteroids was seen.

Comparison of Transplacental Treatment of Fetal Supraventricular Tachyarrhythmias With Digoxin, Flecainide, and Sotalol Results of a Nonrandomized Multicenter Study

Background— Fetal tachyarrhythmia may result in low cardiac output and death. Consequently, antiarrhythmic treatment is offered in most affected pregnancies. We compared 3 drugs commonly used to control supraventricular tachycardia (SVT) and atrial flutter (AF). Methods and Results— We reviewed 159 consecutive referrals with fetal SVT (n=114) and AF (n=45). Of these, 75 fetuses with SVT and 36 with AF were treated nonrandomly with transplacental flecainide (n=35), sotalol (n=52), or digoxin (n=24) as a first-line agent. Prenatal treatment failure was associated with an incessant versus intermittent arrhythmia pattern (n=85; hazard ratio [HR]=3.1; P<0.001) and, for SVT, with fetal hydrops (n=28; HR=1.8; P=0.04). Atrial flutter had a lower rate of conversion to sinus rhythm before delivery than SVT (HR=2.0; P=0.005). Cardioversion at 5 and 10 days occurred in 50% and 63% of treated SVT cases, respectively, but in only 25% and 41% of treated AF cases. Sotalol was associated with higher rates of prenatal AF termination than digoxin (HR=5.4; P=0.05) or flecainide (HR=7.4; P=0.03). If incessant AF/SVT persisted to day 5 (n=45), median ventricular rates declined more with flecainide (−22%) and digoxin (−13%) than with sotalol (−5%; P<0.001). Flecainide (HR=2.1; P=0.02) and digoxin (HR=2.9; P=0.01) were also associated with a higher rate of conversion of fetal SVT to a normal rhythm over time. No serious drug-related adverse events were observed, but arrhythmia-related mortality was 5%. Conclusion— Flecainide and digoxin were superior to sotalol in converting SVT to a normal rhythm and in slowing both AF and SVT to better-tolerated ventricular rates and therefore might be considered first to treat significant fetal tachyarrhythmia.

Sequential segmental analysis in complex fetal cardiac abnormalities: a logical approach to diagnosis

Cardiac abnormalities are common. A wide spectrum of lesions can be encountered in the child and fetus. Complex abnormalities are over-represented in prenatal series as these may be more readily recognized during routine anatomical surveys. While the diagnosis of ‘simple’ defects such as pulmonary stenosis or an isolated ventricular septal defect in an otherwise normally connected heart is usually considered straightforward, the description and understanding of the infinite variety of ‘complex’ cardiac abnormalities may be perceived as a difficult task. It need not be so. Sequential segmental analysis offers a step-by-step approach to describing the cardiac anatomy in different malformations and leads to a thorough appreciation of its pathophysiology. This approach was developed and disseminated in the late 1970s and early 1980s1–3 and is based on the concept that all heart malformations can be readily analyzed with reference to three basic segments4–6. ‘Complex’ congenital heart anomalies become simple when approached in a logical fashion. Knowledge of cardiac embryogenesis is unnecessary to describe the anatomy of the heart after 8 weeks’ gestation. All hearts, normal or malformed, are made up of three segments: atria, ventricles and great arteries (Figure 1). In sequential segmental analysis, the cardiac segments (i.e. the morphologically right and left atria, the morphologically right and left ventricles and the great arteries) are identified separately based on their most consistent anatomical features, not their spatial orientation. The atria are separated from the ventricles at the level of the fibrous tissue plane of the valves at the atrioventricular (AV) junction. The ventriculoarterial junction is marked by the attachment of the arterial valves to the ventricular mass. Atrial situs is established first by determining the position of each atrium in relation to each other within the chest and the AV and ventriculo-arterial connections ascertained. Atria Arterial trunks

Recurrent intrauterine fetal loss due to near absence of HERG: Clinical and functional characterization of a homozygous nonsense HERG Q1070X mutation

BACKGROUND Inherited arrhythmias may underlie intrauterine and neonatal arrhythmias. Resolving the molecular genetic nature of these rare cases provides significant insight into the role of the affected proteins in arrhythmogenesis and (extra-) cardiac development. OBJECTIVE The purpose of this study was to perform clinical, molecular, and functional studies of a consanguineous Arabian family with repeated early miscarriages and two intrauterine fetal losses in the early part of the third trimester of pregnancy due to persistent arrhythmias. METHODS In-depth clinical investigation was performed in two siblings, both of whom developed severe arrhythmia during the second trimester of pregnancy. Homozygosity mapping with microsatellite repeat polymorphic markers encompassing various cardiac ion channel genes linked to electrical instability of the heart was performed. Screening of the candidate gene in the homozygous locus was performed. Biochemical and electrophysiologic analysis was performed to elucidate the function of the mutated gene. RESULTS Screening of the HERG gene in the homozygous locus detected a homozygous nonsense mutation Q1070X in the HERG C-terminus in affected children. Biochemical and functional analysis of the Q1070X mutant showed that although the mutant HERG had the ability to traffic to the plasma membrane and to form functional channels, it was destroyed by the nonsense-mediated decay (NMD) pathway before its translation. NMD leads to near absence of HERG in homozygous Q1070X mutation carriers, causing debilitating arrhythmias (prior to birth) in homozygous carriers but no apparent phenotype in heterozygous carriers. CONCLUSION Homozygous HERG Q1070X is equivalent to near functional knockout of HERG. Clinical consequences appear early, originating during the early stages of embryonic life. The NMD pathway renders HERG Q1070X functionless before it can form a functional ion channel.

Total anomalous pulmonary venous connection: impact of prenatal diagnosis

To investigate whether prenatal screening is effective in the detection of total anomalous pulmonary venous connection (TAPVC) and to identify common prenatal features.

Ultrasound-guided interstitial laser therapy for the treatment of placental chorioangioma

BACKGROUND Placental chorioangioma is a relatively rare malformation with potential to cause fetal hydrops and even death. We describe ultrasound-guided interstitial laser as a modality for treating chorioangiomas of the placenta. CASE The patient presented at midgestation with placental chorioangioma resulting in fetal cardiomegaly. Interstitial laser was performed under local anesthesia on two occasions and resulted in arrest of flow through the tumor feeder vessel. CONCLUSION Interstitial laser therapy in a patient with placental chorioangioma resulted in a successful outcome.

Assessment of the intraobserver variability in the measurement of fetal cardiothoracic ratio using ellipse and diameter methods

To assess the variability of fetal heart and thoracic area and circumference measurements using the ellipse and diameter methods at different gestational ages.

Fetal congenital cardiac diverticulum with pericardial effusion: two cases with different presentations in the first trimester of pregnancy

Two cases of fetal congenital cardiac diverticula diagnosed at 14 and 12 weeks of gestation are reported. Both presented with a large pericardial effusion. One fetus presented with increased NT which evolved into fetal hydrops. Pericardiocentesis at 16 weeks led to progressive resolution of hydrops. The other showed no hemodynamic compromise, normal nuchal translucency (NT) and spontaneous regression of the effusion. Both children were well at 22 and 17 months of age at the time of writing. Copyright