Newborn Blood Spot Screening – Board-Style Questions

What this deck covers

newborn blood spot screening in 18 board-style clinical cases with worked explanations. Each case gives you a clinical vignette, four options, the correct answer, and an explanation of why each of the other three is wrong, with the guideline or textbook it follows named on the answer.

Board-style teaching questions for paediatricians and trainees preparing for paediatric board, MRCPCH and licensing examinations. Written from published guidelines and standard paediatric textbooks, with the source named on every answer.

The 18 cases, in order

1. What is on the list
2. Before anything is proved
3. Booking the visit
4. Born very early
5. After the transfusion
6. Healthy, but a carrier
7. A mother who says no
8. Once the result leaves the laboratory
9. Neither one thing nor the other
10. Arrived from abroad
11. No news at three weeks
12. The babies nobody chased
13. After the laboratory finishes
14. Ambushed at the bedside
15. Fed only through a drip
16. Two cards on the table
17. A second look at the same spot
18. Testing a baby who looks well

Diagnoses and management options tested

Across the 18 cases you are asked to choose between options such as: All of the chromosome disorders, including Down syndrome and others, It marks her as at high risk, and the diagnosis is not yet made, Within the first twelve hours, before the milk comes in, A blood sample from the mother to check her own thyroid function, Take the card on time, and repeat it later for the blood disorders, Nothing is said, since a carrier is healthy and nothing follows, Take the sample anyway once the mother has left the room, The health visitor tells the parents at her next routine home visit, A repeat card, because the value sits between the cut-offs, Nothing, because the window closed at eight days of age, Results are given only if the family telephone and ask for them, A reminder letter sent to parents when the baby is one year old, It is kept for at least five years under a national policy, A signed consent form completed on the day the card is taken.

Clinical pearls from this deck

• The card looks for nine named conditions, no more.
• A positive screen marks risk, not a diagnosis.
• Day five, counting the day of birth as day zero.
• Very preterm babies need a second card at 28 days.
• A transfusion means a repeat card for the blood disorders.
• Carrier results are told, with counselling for the parents.

Work through the deck once for recognition, then again a week later to test yourself — each question gives the answer and explains why every other option fails.

More from this system: all genetics and metabolic case decks · pediatric reference values.