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Goldenhar Syndrome

Introduction In 1952, Dr. Maurice Goldenhar described a variant of hemifacial microsomia. Although Goldenhar syndrome is frequently listed as synonymous with hemifacial microsomia, it is distinct. Also known as ocular-auriculo-vertebral syndrome, Goldenhar syndrome is a defect in the development of the first and second branchial arches. Characterized by epibulbar dermoids, mandibular asymmetry, and cervical vertebrae anomalies, the syndrome exhibits extreme heterogeneity. Disorder Definition The heterogeneous nature…

Fryns Syndrome

Introduction First described in 1979, Fryns syndrome is a rare autosomal recessive disorder characterized by diaphragmatic defects, dysmorphic facial features, distal limb hypoplasia, pulmonary hypoplasia, and associated anomalies of other major organ systems. To date the diagnosis is made solely by clinical criteria, as only one candidate gene has been identified through whole exome sequencing. Although Fryns syndrome was initially thought to be uniformly lethal, there…

Fraser Syndrome

Introduction Fraser syndrome is a rare congenital malformation syndrome characterized by cryptophthalmos, syndactyly, and urogenital defects. Disease Definition Thomas et al. formulated the diagnostic criteria for Fraser syndrome including four major (cryptophthalmos, syndactyly, abnormal genitalia, and affected sibling) and eight minor criteria (congenital malformations of nose, ears, and larynx; cleft lip with or without cleft palate; skeletal symptoms; umbilical hernia; renal agenesis; mental retardation). These authors suggested…

Cornelia de Lange Syndrome

Introduction Cornelia de Lange syndrome (CdLS), also known as Brachmann-de Lange or de Lange syndrome, is a condition characterized by mental retardation, craniofacial dysmorphism, prenatal and postnatal growth failure, hirsutism, and upper limb abnormalities. Other defects occasionally associated with CdLS include congenital cardiac defects and genital anomalies. There are three subtypes of CdLS. CdLS1, the classic form, is caused by autosomal dominant mutations in the NIPBL…

CHARGE Syndrome

Introduction CHARGE ( c oloboma, h eart disease, choanal a tresia, r etardation, g enital hypoplasia, and e ar anomalies) syndrome is an autosomal dominant disorder that was first described as a recognizable pattern of congenital malformations by Hall in 1979. He described 17 children with multiple congenital anomalies in which choanal atresia was the primary feature. Also in 1979, Hittner et al. described 10 children with…

Fetal Biophysical Profile

Introduction The biophysical profile (BPP) was first described in 1980 as a method to quantify and standardize antepartum fetal evaluation. The full BPP test is performed using a combination of real-time ultrasound (US) and cardiotocography, also known as a nonstress test (NST). The US component combines the assessment of four activities: fetal movement, fetal breathing, and tone over a 30-minute period, along with amniotic fluid assessment.…

Cervical Length and Spontaneous Preterm Birth

Introduction Preterm birth (PTB) touches communities everywhere. Around the world, one in 10 babies is born too early. The toll is more than 15,000,000 babies per year. The deep impact of this problem has fostered widespread efforts to use the best available medical practices to address it. Accordingly, the U.S. PTB rate fell from 10.44% to 9.57% from 2007–2014, although, unfortunately, preliminary 2015 birth data shows…

Immune Hydrops Fetalis

Introduction The fetal-maternal interface in pregnancy does not act as a barrier to the passage of fetal cells into the maternal circulation, and the passage of fetal deoxyribonucleic acid into the maternal compartment is one proposed mechanism for preventing immunologic rejection of the fetus with its paternally derived foreign antigen. The transfer of fetal red blood cells into the maternal circulation, however, has the ability to…

Nonimmune Hydrops Fetalis

Introduction Nonimmune hydrops fetalis (NIHF) was first explained by Potter, who described fetal hydrops in the nonanemic fetuses of Rh-positive women. With the advent of anti-D immunoglobulin and the decreased incidence of immune-mediated hydrops, NIHF now comprises 90% of all fetal hydrops cases. NIHF presents a diagnostic dilemma for the treating physician secondary to the myriad etiologies that result in NIHF. Although overall fetal mortality remains…

Lymphedema and Lymphatic Malformations

Background Dysregulation of the lymphatic system is a key factor in a variety of disorders, and may be associated with aneuploidy (especially monosomy X), autosomal, or X-linked genetic disorders, and/or multiple other conditions. Lymphatic disorders can be classified as primary or secondary. Primary or congenital lymphedema is most commonly associated with cystic hygroma (CH), and often leads to hydrops fetalis and fetal demise. Secondary lymphedema is…

Oligohydramnios

Introduction Oligohydramnios, a reduced amount of amniotic fluid, is associated with increased perinatal morbidity and mortality. Its presence should prompt fetal and maternal evaluation. Disease Definition The definition of oligohydramnios varies. It may be described subjectively, but accuracy is dependent on operator experience and gestational age; precise objective measurement requires invasive study and is difficult to assess clinically. In practice, the amniotic fluid volume is usually…

Polyhydramnios

Introduction Polyhydramnios (also called hydramnios ) is defined as an excessive amount of amniotic fluid. Although idiopathic in more than 50% of cases, it may be associated with maternal and fetal disorders. Polyhydramnios should prompt a detailed fetal anatomic ultrasound (US) scan and maternal evaluation. Disease Definition An amniotic fluid volume greater than 2000 mL constitutes polyhydramnios, but accurate measurement requires invasive study and is difficult to…

Open Fetal Surgery

Introduction Development of fetal surgery would not have been possible without advances in prenatal imaging, understanding the natural history of diseases, experimental animal models, and above all, the vision, innovation, and discipline of a dedicated group of surgeons, maternal-fetal medicine specialists, and anesthesiologists. The first human open fetal intervention was performed in 1982, with bilateral ureterostomies to manage a lower urinary tract obstruction (LUTO). Fetal surgery…

Multifetal Pregnancy Reduction

Introduction Multiple gestations are at risk for perinatal morbidity and mortality that increase with higher-order pregnancies, primarily caused by complications of prematurity. The risk of preterm delivery increases as the number of fetuses increases. In 2014, preterm delivery <32 weeks occurred in 1% of singletons, 11% of twins, 39% of triplets, and 72% of quadruplets. Infant mortality increases fourfold in twins, 12-fold in triplets, and 26-fold…

Fetal Shunts

Introduction Intrauterine fetal shunts provide continuous drainage of fluid accumulations that are associated with a high risk of death or profound morbidity without decompression. The shunts are flexible plastic catheters that are percutaneously guided to a fetal location in utero under continuous ultrasound (US) guidance. Although shunt placement is considered to be minimally invasive, procedural risks and uncertain long-term prognosis despite technical success limit this therapy…

Selective Laser Photocoagulation

Introduction Monochorionic twin gestations are at increased risk of perinatal morbidity and mortality related to a shared placental circulation. They are uniquely susceptible to the development of twin-twin transfusion syndrome (TTTS), with an incidence of approximately 10% to 15%. TTTS involves unbalanced shunting of blood between twins across vascular anastomoses within the placental bed. Without intervention, early-onset TTTS has a mortality rate that can approach 95%;…

Radiofrequency Ablation

Introduction The use of radiofrequency energy to create focal thermal tissue injury was first studied in the liver in the early 1990s. In 1996 the first radiofrequency ablation (RFA) procedure was performed on a patient with a liver tumor at Massachusetts General Hospital. RFA has since been used for various indications including unresectable tumors and cardiac arrhythmias. This technology has also been successfully applied to selective…

Chorionic Villus Sampling

Introduction Chorionic villus sampling (CVS) is a procedure in which small samples of placental tissue are obtained for prenatal diagnosis of aneuploidy or for DNA analysis. CVS is an outpatient procedure usually performed between 10 and 14 weeks' gestation. The main advantage of CVS compared with amniocentesis is that the results are available earlier in pregnancy, allowing for earlier and safer methods of pregnancy termination if…

Cordocentesis and Fetal Transfusion

Introduction Cordocentesis is a procedure that has both diagnostic and therapeutic value in fetal medicine, and is used for fetal blood sampling (FBS) and administration of fetal transfusions. Sir William Liley described the first successful intraperitoneal transfusion in 1963 with x-ray assistance. Almost 20 years later, Rodeck et al. reported using a fetoscopic approach to gain direct fetal vascular access. Ultrasound (US) guided percutaneous umbilical sampling (PUBS)…

Amniocentesis

Introduction Amniocentesis is a procedure in which a transabdominally placed needle is used to withdraw amniotic fluid from the amniotic sac. “Early amniocentesis” (<15 weeks' gestation) should be avoided because of increased complications, including a higher fetal loss rate and an increased risk of talipes equinovarus. Procedure You’re Reading a Preview Become a Clinical Tree membership for Full access and enjoy Unlimited articles Become membership If…