The Newborn at Risk: Congenital Disorders and Anomalies

Vocabulary practice flashcards covering central nervous system, cardiovascular, gastrointestinal, genitourinary, skeletal, metabolic, and chromosomal congenital disorders in newborns.

Maternal Serum Alpha-Fetoprotein (AFP)

A maternal blood screening test performed between 13 and 15 weeks gestation; elevated levels indicate neural tube defects such as spina bifida or multiple gestations, whereas low levels suggest Down syndrome.

Spina Bifida Occulta

A mild, often asymptomatic form of spina bifida characterized by incomplete closure of the vertebrae without spinal cord protrusion, frequently marked externally by a dimple or a tuft of hair on the lower back.

Meningocele

A neural tube defect in which a sac containing meninges and cerebrospinal fluid (CSF) protrudes through an opening in the spinal column without involving spinal cord tissue.

Myelomeningocele

The most severe form of spina bifida in which the neural tube fails to close, causing a sac containing meninges, cerebrospinal fluid, and exposed spinal cord tissue to protrude from the spinal column.

Noncommunicating Hydrocephalus

A type of hydrocephalus caused by an obstruction within the ventricular system that prevents cerebrospinal fluid from circulating between the ventricles and the spinal cord.

Communicating Hydrocephalus

A form of hydrocephalus in which cerebrospinal fluid flows freely through the ventricular system but has defective absorption in the subarachnoid space.

Ventriculoperitoneal (VP) Shunt

A surgically placed catheter system that drains excess cerebrospinal fluid from the lateral ventricles of the brain into the peritoneal cavity to reduce increased intracranial pressure.

Sunsetting Eyes

A clinical sign of increased intracranial pressure in hydrocephalus where the eyes are pushed downward, making the sclera visible above the iris.

Coarctation of the Aorta

An obstructive congenital heart defect characterized by constriction or narrowing of the aortic arch, leading to hypertension in the upper extremities and increased left ventricular workload.

Tetralogy of Fallot (TOF)

A cyanotic congenital heart defect consisting of four structural anomalies: pulmonary stenosis, ventricular septal defect (VSD), overriding aorta, and right ventricular hypertrophy.

Transposition of the Great Arteries (TGA)

A cyanotic congenital heart defect in which the aorta arises from the right ventricle and the pulmonary artery arises from the left ventricle, forming two separate parallel circulatory circuits.

Tricuspid Atresia

A cyanotic congenital heart defect characterized by complete closure or absence of the tricuspid valve, forcing deoxygenated blood to shunt right-to-left through an atrial septal defect.

Ventricular Septal Defect (VSD)

An acyanotic congenital heart defect characterized by an abnormal opening in the septum between the ventricles, resulting in a left-to-right shunt and increased pulmonary blood flow.

Post-Cardiac Catheterization Nursing Care

Nursing actions following pediatric cardiac catheterization, including monitoring heart rate for 1 full minute, keeping the affected extremity straight for 4 to 8 hours, checking distal pulses and skin temperature, inspecting the insertion site for hematoma, and encouraging fluids to excrete contrast medium.

Digoxin

An inotropic and chronotropic cardiac glycoside that increases myocardial contractility and decreases heart rate; requires taking an apical pulse for 1 full minute prior to administration and monitoring for toxicity (bradycardia, nausea, vomiting, visual halos), which is exacerbated by hypokalemia.

Cleft Lip

A congenital facial anomaly caused by incomplete fusion of lip structures, typically corrected with surgery between 3 and 6 months of age.

Cleft Palate

A congenital structural defect in the roof of the mouth impacting feeding and speech development, typically surgically repaired between 6 and 12 months of age.

Esophageal Atresia and Tracheoesophageal Fistula (TEF)

Congenital gastrointestinal defects where the esophagus ends in a blind pouch and/or connects abnormally to the trachea, presenting with high aspiration risk and the classic three Cs: coughing, choking, and cyanosis.

Imperforate Anus

A congenital gastrointestinal defect characterized by the absence or obstruction of the normal anal opening, manifested by the failure to pass meconium within 24 to 48 hours after birth.

Omphalocele

A high-acuity abdominal wall defect where viscera herniate into the umbilical cord inside a protective sac; requires immediate covering at birth with sterile, moistened gauze and plastic wrap prior to surgery.

Hypospadias

A congenital genitourinary anomaly in males where the urethral opening is located on the ventral (under) surface of the penis, requiring circumcision to be delayed so foreskin can be used for surgical repair.

Epispadias

A congenital genitourinary defect in males where the urethral meatus opens on the dorsal (upper) surface of the penis.

Ambiguous Genitalia

A congenital condition where external sexual organs are incompletely formed, preventing visual sex determination at birth and requiring urgent genetic testing and diagnostic workup.

Congenital Talipes Equinovarus (Clubfoot)

A congenital foot deformity involving medial rotation and inversion of the foot and ankle, managed initially with serial plastic splints or casting, and requiring surgery if nonsurgical measures fail.

Developmental Dysplasia of the Hip (DDH)

Instability or dislocation of the hip joint manifested by asymmetric gluteal skin folds, limited thigh abduction ($< 45^\text{o}$), femoral shortening, and an audible clunk during Ortolani and Barlow maneuvers.

Congenital Hypothyroidism

An inborn metabolic error caused by absence or dysfunction of the thyroid gland, presenting at around 6 weeks with a depressed nasal bridge, large tongue, hoarse cry, puffy eyes, dry cold skin, and chronic constipation, treated with Levothyroxine.

Phenylketonuria (PKU)

An inborn metabolic error characterized by an inability to metabolize phenylalanine; blood levels exceeding $4\text{ mg/dL}$ indicate PKU (classic untreated $> 20\text{ mg/dL}$), requiring a strict low-protein diet to prevent severe encephalopathy.

Galactosemia

An inherited metabolic disorder preventing breakdown of galactose, requiring strict elimination of lactose and galactose (including breast milk) in favor of soy-based or lactose-free formulas.

Turner Syndrome

A female-exclusive monosomy chromosomal condition (45,X) resulting from a missing X chromosome, characterized by short stature, webbed neck, osteoporosis, primary ovarian insufficiency/infertility, cardiac defects, and normal intelligence.

Down Syndrome (Trisomy 21)

An autosomal chromosomal disorder caused by an extra full or partial copy of chromosome 21 (47 total chromosomes), featuring a single palmar crease, low-set ears, hypotonia, flat facial profile, cardiac anomalies, and altered immune function with higher leukemia risk.

Klinefelter Syndrome

A male sex chromosome anomaly characterized by an extra X chromosome (47,XXY), resulting in long limbs, scarce beard growth, gynecomastia, small testes, sterility, and a need for adolescent testosterone replacement therapy.