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Pierre Robin Sequence

Introduction Pierre Robin sequence (PRS) is a result of hypoplasia of the mandible leading to retrognathia or micrognathia, cleft palate, and posterior displacement of the tongue (glossoptosis). The classic cleft palate in PRS is a U-shape. Retrognathia and glossoptosis lead to airway obstruction of varying severity, occasionally requiring intubation or tracheostomy for airway management. The PRS may occur in isolation or as part of a syndrome.…

Pentalogy of Cantrell

Introduction First described in 1958, pentalogy of Cantrell is a rare syndrome consisting of five anomalies including: (1) a midline supraumbilical abdominal wall defect, (2) a defect in the diaphragmatic pericardium, (3) a defect in the lower sternum, (4) a defect in the anterior diaphragm, and (5) various intracardiac anomalies. In the most severe cases, the heart herniates through the diaphragmatic defect, resulting in ectopia cordis.…

Noonan Syndrome

Introduction Noonan syndrome (NS), first described by Dr. Jacqueline Noonan in 1968, is a disorder characterized by facial dysmorphisms, cardiovascular defects primarily consisting of pulmonary stenosis, short stature, and variable developmental delay. In addition, affected individuals often display pectus excavatum or carinatum, webbed neck, coagulopathies, and ocular anomalies. There is a great deal of variability in disease expression. NS is genetically heterogeneous; in almost all cases,…

Neu-Laxova Syndrome

Introduction Neu-Laxova syndrome (NLS) is an autosomal recessive, lethal disorder. The syndrome was first described in 1971 by Neu et al. who reported three siblings who were either stillborn or died shortly after birth with microcephaly and multiple congenital anomalies. In 1972 Laxova et al. reported three siblings born to consanguineous parents with similar findings. In 1979 Lazjuk et al. described another case with similar findings and named the…

Meckel-Gruber Syndrome

Introduction Meckel-Gruber syndrome, also known as Meckel syndrome or Gruber syndrome, is a severe ciliopathy. This developmental disorder was first described by Meckel in 1822 and later by Gruber in 1934. The minimum diagnostic criteria are controversial because the clinical manifestations of the syndrome are highly variable. The classic triad consists of a central nervous system malformation, typically occipital encephalocele; cystic kidneys; and polydactyly, most commonly…

Holt-Oram Syndrome

Introduction Holt-Oram, also known as hand-heart syndrome I, was first described in 1960 by Mary Clayton Holt and Samuel Oram as a constellation of malformations that they observed in four generations of one family. The original description included atrial septal defects and a thumb anomaly that lay in the same plane as the finger. Individuals affected by this disorder have the classically described upper limb anomaly…

Klippel-Trénaunay-Weber Syndrome

Introduction Klippel-Trénaunay-Weber syndrome (KTWS) is characterized by a triad of cutaneous hemangiomas, hemihypertrophy, and vascular abnormalities. This triad of anomalies was first described by Klippel and Trénaunay in 1900. Parkes-Weber described an additional case 18 years later that had the triad of findings described by Klippel and Trénaunay and an arteriovenous malformation. The exact pathophysiology and genetic etiology of the disorder are unknown. Treatment consists of…

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…