Physical Address

304 North Cardinal St.
Dorchester Center, MA 02124

Intrauterine Growth Restriction

Introduction Intrauterine growth restriction (IUGR) is a significant pregnancy complication that has both short-term and long-term implications for the fetus and the neonate. A growth-restricted fetus is at increased risk of perinatal morbidity and mortality, and the risks are carried into adulthood with an increased risk of cardiovascular disease, hypertension, obesity, diabetes, and osteoporosis, regardless of the gestational age at delivery. Disease Definition IUGR is generally…

Beckwith-Wiedemann Syndrome

Introduction Beckwith-Wiedemann syndrome (BWS) was first described in 1963 and 1964 by Beckwith, an American pediatric pathologist, and Wiedemann, a German geneticist. Since the first descriptions, more than 500 cases have been reported. Prenatal diagnosis of BWS was first reported in 1980. With the increased knowledge of the clinical features and possible causes of BWS, the diagnosis is now often suspected prenatally, allowing for genetic testing,…

Fetal Macrosomia

Introduction The term macrosomia is used to describe a fetus or neonate with excessive growth. However, during pregnancy, as the fetus cannot be weighed directly, the term fetal macrosomia is intended to convey a suspicion of excessive fetal growth beyond a specified threshold, based on indirect assessment such as physical examination or ultrasound (US) assessment. Because of the increased risk of labor dystocia, birth trauma, and…

Vasa Previa

Introduction Vasa previa is a condition in which the umbilical vessels course through the membranes within the lower uterine segment and traverse over, or near, the endocervical os. These vessels can rupture spontaneously without rupture of the membranes, and result in fetal exsanguination and demise. In addition, since the vessels are not protected by the umbilical cord, they are at increased risk of cord compression. Disease…

Placenta Previa

Introduction Placenta previa is a leading cause of antepartum bleeding. Diagnosis of this condition prenatally by ultrasound (US) is key in preventing the significant maternal and fetal morbidity that can occur as a result of this condition. Disease Definition Placenta previa refers to a placenta located either fully or partially in the lower uterine segment and covering the internal cervical os. Historically, terms such as complete,…

Limb–Body Wall Complex

Introduction Limb–body wall complex (LBWC) refers to a combination of multiple malformations involving the craniofacial structures, thoracoabdominal wall, extremities, and spine. LBWC is almost uniformly lethal and associated with a very poor outcome because of, among other factors, pulmonary hypoplasia. The associated anomalies can be significantly disfiguring, often involving extensive lesions of the thoracoabdominal region with visceral herniation, a short or absent umbilical cord, and exteriorization…

Gestational Trophoblastic Disease

Introduction Gestational trophoblastic disease (GTD) is a spectrum of disorders arising from abnormal proliferation of the trophoblastic epithelium of the placenta. There are several histologically distinct types of GTD that range from premalignant, complete, and partial hydatidiform moles (HMs), to malignant diseases, also known as gestational trophoblastic neoplasia (GTN), which includes persistent/invasive GTN, placental site trophoblastic tumors, epithelioid trophoblastic tumor (ETT), and choriocarcinoma. Choriocarcinoma is discussed…

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…