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Cord Varix

Introduction Although umbilical vascular anomalies are congenital malformations seen commonly, venous abnormalities of the umbilical vein, such as an umbilical cord varix, are rare. The widespread use of routine sonography has facilitated the prenatal diagnosis of umbilical vein varix (UVV), the clinical significance of which remains unclear. Disorder Definition UVV is a rare, idiopathic, focal dilatation of the umbilical vein, either within the intraamniotic portion of…

Cord Cyst

Introduction The widespread use of high-resolution ultrasound (US) in routine obstetric care has led to greater detection of placental and umbilical cord abnormalities. Cysts of the umbilical cord have been reported in all trimesters. The clinical significance and prognosis of cord cysts vary depending on the gestational age at diagnosis, persistence of the cyst, and associated structural or chromosomal abnormalities. Disorder Definition A cord cyst is…

Placenta Circumvallata

Introduction Circumvallate placenta is a placental anomaly in which the membranous chorion transitions to a villous chorion, not at the placental edge, but at an area inward from the placental margins, closer to the insertion of the umbilical cord. This entity was first described in the 18th century. Although previously thought not to affect the course of pregnancy, it may in fact be associated with several…

Choriocarcinoma

Introduction Malignant gestational trophoblastic disease (GTD) occurs when there is clinical, radiologic, pathologic, or hormonal evidence of persistent trophoblastic tissue, or abnormal growth of trophoblastic tissue. This is most commonly diagnosed after a molar pregnancy, but it can occur after any type of pregnancy. Disease Definition Choriocarcinoma is a form of malignant GTD. It arises from cytotrophoblast as well as syncytiotrophoblasts without villi, and produces human…

Chorioangioma

Introduction Chorioangiomas are the most common histologic type of placental tumor. They are usually well circumscribed, vascular, and predominantly hypoechoic, ranging from microscopic to several centimeters in diameter. Disease Prevalence and Epidemiology Chorioangiomas are found in 0.5% to 1% of placentas examined at delivery. Microangiomas are the most common but are less likely to cause any fetal or maternal complications and will often go undetected. Masses…

Amniotic Band Sequence

Introduction Amniotic band sequence (ABS) refers to a broad group of highly variable congenital anomalies involving multiple fetal structures. Embryologically normal fetal structures become entangled in amniotic bands, leading to constriction, disruption, and malformation defects. The term sequence describes this condition as a heterogeneous pattern of malformations, which cannot be traced back to a single factor. Disorder Definition ABS is a set of congenital malformations caused…

Placenta Accreta

Introduction The rising rates of cesarean delivery in recent years have led to an increase in the diagnosis of placenta accreta, increta, and percreta. Also referred to as morbidly adherent placenta or abnormally invasive placentation, this spectrum of conditions refers to excessive invasion of the placenta into the uterus. Placenta accreta is associated with significant maternal morbidity and a mortality rate of up to 7%. However,…

Placental Abruption

Introduction Placental abruption complicates a small fraction of pregnancies but has the potential to carry major maternal and fetal morbidity. As this entity is diagnosed clinically, imaging plays a limited role in diagnosis and management, which varies based on gestational age and the severity of the abruption at the time of presentation. Disease Definition Placental abruption is defined as the premature separation of a normally implanted…

Arrhythmias

Introduction Arrhythmia is defined as any abnormality in normal heart rhythm. Fetal arrhythmias include regular heart rates less than 100 beats/min or greater than 180 beats/min, or any irregularity in fetal heart rate in the absence of uterine contractions. Fetal arrhythmias occur in 2% of pregnancies, and most are benign, with no requirement for in utero treatment. At least 90% of arrhythmias are caused by irregular…

Cardiac Tumors

Introduction Cardiac tumors are rare and usually benign with few cardiac complications; most are asymptomatic and eventually involute. Cardiac complications include arrhythmias, obstruction of the ventricular outflow tracts, and secondary cardiogenic shock leading to fetal hydrops and death. Prenatal diagnosis is helpful to monitor these cases and, if necessary, to schedule delivery or perform in utero treatment to improve secondary heart failure. Disease Definition Cardiac tumors…

Cardiomyopathy

Introduction Cardiomyopathy is a very rare disease in the fetus. It is almost invariably associated with a poor outcome. Only isolated case reports and small case series have been published. There is a great variability in presentation, etiology, and hemodynamic consequences, which hampers diagnosis and parental counseling. Disease Definition Cardiomyopathy is defined as a primary cardiac muscle anomaly with no association with structural heart or pericardial…

Anomalies of Systemic Venous Return

Introduction Congenital anomalies of systemic venous drainage represent a heterogeneous group of malformations. The most frequently reported anomalies are persistent left superior vena cava (PLSVC), absence of inferior vena cava (IVC), and agenesis of the ductus venosus. More rarely, right absent superior vena cava, persistent right umbilical vein, and total anomalous systemic venous return toward the coronary sinus have also been reported prenatally. Abnormal systemic venous…

Anomalies of Pulmonary Venous Return

Introduction Anomalous pulmonary venous return (APVR) is an uncommon congenital heart anomaly with abnormal drainage of pulmonary venous blood into the systemic venous system. Despite its very low incidence, it is a pediatric cardiology emergency. Disease Definition APVR is defined as abnormal drainage of pulmonary venous blood into the systemic venous system. Total APVR is characterized by the anomalous drainage of all the pulmonary veins, whereas…

Atrial Isomerism

Introduction Heterotaxy (or situs ambiguus ) is defined as the abnormal arrangement of thoracic or abdominal organs, or both, across the left-right axis ( Video 90.1 ); it is different from complete situs inversus, which involves all organs. The term isomerism refers to the symmetric development of normally asymmetric organs or organ systems; this is the main feature of heterotaxy syndromes. These syndromes comprise a combination…

Double-Inlet Single Ventricle

Introduction Double-inlet single ventricle is a rare anomaly, accounting for 2% to 3% of all congenital heart diseases (CHDs). Double-inlet single ventricle comprises a heterogeneous group of cardiac anomalies characterized by the presence of two atria with a single ventricle. Cardiac and extracardiac anomalies are commonly associated. The prognosis is usually very poor, and univentricular repair is required. Disease Definition Double-inlet single ventricle comprises a heterogeneous…

Common Arterial Trunk

Introduction Common arterial trunk (CAT), also called truncus arteriosus, is an infrequent conotruncal anomaly in which there is a single outflow tract for both ventricles. Disease Definition CAT is characterized by a single great artery connecting both ventricles, which is responsible for the pulmonary, systemic, and coronary circulation ( Video 88.1 ). Prevalence and Epidemiology CAT accounts for 1% of all congenital heart diseases (CHDs), and…

Double-Outlet Right Ventricle

Introduction Double-outlet right ventricle (DORV) refers to a group of complex heart anomalies in which both great arteries arise entirely, or to a great extent, from the right ventricle. Disease Definition DORV encompasses a spectrum of lesions in which both outflow tracts connect to the right ventricle entirely or predominantly. Prevalence and Epidemiology DORV accounts for 4% to 8% of prenatal congenital heart diseases (CHDs). The…

Transposition of Great Arteries

Introduction There are two forms of transposition of great arteries (TGA): complete and corrected. Complete Transposition of Great Arteries A conotruncal anomaly characterized by a discordant ventriculoarterial connection. Complete TGA affects approximately 3 : 10,000 newborns. Definition Complete TGA is defined by normal atrioventricular concordance associated with an abnormal ventriculoarterial connection. The pulmonary artery arises from the morphologic left ventricle and the aorta emerges anteriorly from the morphologic…

Tetralogy of Fallot

Introduction Tetralogy of Fallot (TOF) is one of the most common conotruncal heart anomalies. It affects 9% to 11% of newborns with congenital heart disease (CHD). Disease Definition In TOF, there is an anterior-superior and leftward displacement of the outlet septum in relation to the trabecular interventricular septum. It is characterized by an outlet, perimembranous ventricular septal defect (VSD), an overriding aorta over the infundibular septum,…

Aortic Arch Anomalies

Introduction Aortic arch (AA) anomalies comprise a group of congenital alterations of the aortic arch that affect the position of the aortic branching. These anomalies can occur in association with other congenital heart diseases (CHDs) or as incidental findings in asymptomatic newborns. Disease Definition Most frequent AA anomalies include right aortic arch (RAA) anomaly and aberrant right subclavian artery (ARSA ) . RAA anomaly consists of…