A Male Newborn, Born at 39 Weeks Gestation, Is Evaluated

A male newborn, born at 39 weeks gestation, is evaluated in the labor and delivery unit 2 hours after birth.  Prenatal care was limited due to infrequent follow-up, and there were no complications during the delivery.  Apgar scores were 7 and 9 at 1 and 5 minutes, respectively.  Weight is 2.47 kg (5 lbs, 7 oz) and vital signs are normal.  Physical examination shows upslanting palpebral fissures, transverse palmar creasing, and widening of the space between the first and second toes.  The parents share that they are glad the delivery went well.  Which of the following is the most appropriate statement by the physician at this time?

A) "Although your son is healthy and doing well, he may have a chromosomal disorder."
B) "I have some news that may be unexpected; would it be okay to share that with you now?"
C) "This may be difficult to hear, but it looks like your son may have Down syndrome."
D) "Unfortunately, your son may have Down syndrome; I'd like to do some bloodwork to confirm."
E) "Your son has some concerning examination findings; did you have any prenatal testing done?"

Correct Answer:

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