Answer to Question 1
ANS: D
Early diagnosis and treatment are essential to prevent the complications of CH. Neonatal screening is mandatory in all 50 United States and territories and is usually obtained in the first 24 to 48 hours of birth. A number of different etiologies exist for CH; family history will identify a small percentage only. The screening can be done postnatally on blood obtained via heel stick.
Answer to Question 2
ANS: D
Each of these disorders, trisomy 13, 18, and 21, has unique physical characteristics. A presumptive diagnosis can often be made soon after birth and later confirmed by chromosomal analysis. Children with trisomy 13 and 18 usually have short life expectancies. Trisomy 21 has a variable life expectancy, with 80 of individuals living to age 30 years. Trisomy 13, trisomy 18, and trisomy 21 are not deletion syndromes.