A child has Transposition of Great Aeries. The mother should be investigated for:
**Core Concept**
Transposition of the Great Arteries (TGA) is a congenital heart defect where the two main arteries that carry blood out of the heart are reversed. This condition requires prompt diagnosis and management to ensure proper blood circulation and oxygenation.
**Why the Correct Answer is Right**
In TGA, the aorta arises from the right ventricle, and the pulmonary artery arises from the left ventricle. This abnormal arrangement can be associated with a genetic syndrome, particularly 22q11.2 deletion syndrome, also known as DiGeorge syndrome. This condition is characterized by thymic hypoplasia, leading to T-cell immunodeficiency and other systemic anomalies. The mother should be investigated for this genetic syndrome to identify potential carriers and to provide appropriate counseling and management.
**Why Each Wrong Option is Incorrect**
* **Option A:** While maternal diabetes is a risk factor for congenital heart defects, it is not specifically associated with TGA.
* **Option B:** Maternal exposure to teratogens like alcohol or certain medications may contribute to congenital heart defects, but this is not the primary concern in TGA.
* **Option C:** Maternal hypertension is a risk factor for various pregnancy complications, but it is not directly associated with TGA.
**Clinical Pearl / High-Yield Fact**
The 22q11.2 deletion syndrome is a genetic condition that affects approximately 1 in 4,000 births and is associated with a range of systemic anomalies, including congenital heart defects, cleft palate, and immunodeficiency.
**Correct Answer: D. 22q11.2 deletion syndrome**