Congenital defects — Flashcards

Flashcard 331: D-transposition of the great vessels is associated with _____

Answer: maternal diabetes

Flashcard 332: Newborns with Rh incompatibility typically have _____ at birth

Answer: severe anemia

Extra: Rh incompatibility occurs when an Rh-negative mother is sensitized to Rh-positive fetal RBCs, leading to the production of anti-D IgG antibodies.

Flashcard 333: Acute lymphoblastic leukemia is associated with _____ syndrome; usually arises after the age of 5 years

Answer: Down

Flashcard 334: How will babies present with choanal atresia? _____

Answer: Pink up with crying (he/she uses mouth) and blue at rest (obligate nose-breathers)

Flashcard 335: _____ is diagnostic & therapeutic for an infant with meconium ileus

Answer: Gastrografin enema

Flashcard 336: Diagnosis of Tracheoesophageal fistula = _____

Answer: feeding tube cannot pass through esophagus

Flashcard 337: Screening for congenital heart disease includes pre- and post-ductal _____

Answer: pulse oximetry

Flashcard 338: Fragile X syndrome may present with _____ of joints

Answer: hypermobility

Flashcard 339: _____ muscular dystrophy presents before 5 years of age _____ muscular dystrophy presents as a teenager

Answer: Duchenne

Flashcard 340: A neonate presents with respiratory distress and a scaphoid abdomen. A babygram shows bowel loops in the thoracic cavity, confirming a diagnosis of _____.

Answer: congenital diaphragmatic hernia

Extra: Congenital diaphragmatic hernia (CDH) is most commonly a Bochdalek hernia (left-sided). The displacement of abdominal organs into the chest results in pulmonary hypoplasia. Initial management involves stabilization (intubation; avoid bag-mask ventilation to prevent bowel distension) followed by surgical repair.