Tag Katherine R. Goetzinger

Obstetrics & Gynecology Imaging, Ultrasonography

Ultrasound Evaluation of Fetal Aneuploidy in the First and Second Trimesters

Summary of Key Points Major fetal malformations are highly associated with fetal chromosomal abnormalities, particularly central nervous system anomalies, facial abnormalities, cystic hygroma, diaphragmatic hernia, cardiac defects, gastrointestinal abnormalities, genitourinary anomalies, nonimmune hydrops fetalis (NIHF), and abnormalities involving the extremities.…

Callen's Ultrasonography in Obstetrics and Gynecology
March 15, 2023

Obstetrics & Gynecology Imaging

Miller-Dieker Syndrome (17p13.3 Deletion Syndrome)

Introduction Miller-Dieker syndrome (MDS) is a rare, contiguous gene deletion syndrome characterized by type I lissencephaly, facial dysmorphism, seizures, and severe mental retardation. Other associated defects including cardiac malformations, neural tube defects, omphalocele, gastrointestinal anomalies, genitourinary anomalies, and intrauterine growth…

Obstetric Imaging: Fetal Diagnosis and Care
March 14, 2023

Obstetrics & Gynecology Imaging

Tuberous Sclerosis

Introduction Tuberous sclerosis, also known as the tuberous sclerosis complex (TSC), is a disorder of cellular differentiation, proliferation, and migration in early development that variably affects multiple organ systems. First described in 1862 by Friedrich von Recklinghausen, TSC is characterized…

Obstetric Imaging: Fetal Diagnosis and Care
March 14, 2023

Obstetrics & Gynecology Imaging

Cystic Fibrosis

Introduction Cystic fibrosis (CF) is a single-gene autosomal recessive disorder characterized by chronic airway infection, pancreatic insufficiency, gastrointestinal dysfunction, and male infertility. Symptoms typically manifest during childhood, leading to early mortality in the third and fourth decades of life. Greater…

Obstetric Imaging: Fetal Diagnosis and Care
March 14, 2023

Obstetrics & Gynecology Imaging

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…

Obstetric Imaging: Fetal Diagnosis and Care
March 14, 2023

Obstetrics & Gynecology Imaging

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…

Obstetric Imaging: Fetal Diagnosis and Care
March 14, 2023