Question

Which of the following was the major advance provided by the development of tandem mass spectrometry for newborn screening?

A Ability to detect phenylketonuria (PKU)
B Ability to detect lower levels of abnormal metabolites
C Ability to make a definite diagnosis
D Ability to multiplex screens
E Ability to do complete screen with fewer blood spots

Answer 1

The major advancement of tandem mass spectrometry in newborn screening is the capability to conduct multiple tests at once from a single sample, offering efficient, sensitive, and specific detection of a variety of metabolic and genetic disorders (option D).

Step-by-step explanation:

The major advance provided by the development of tandem mass spectrometry (MS/MS) for newborn screening is the ability to multiplex screens (Option D). This advancement means that multiple disorders can be tested simultaneously from a single blood spot. Compared to traditional mass spectrometry, tandem MS/MS offers a higher throughput capacity, enabling more efficient and faster screening processes. This is crucial as newborn screening programs need to cover a wide range of metabolic and genetic disorders.

Furthermore, MS/MS techniques ensure high specificity and sensitivity, which are essential for detecting low levels of abnormal metabolites, potentially leading to early diagnosis and treatment of rare inborn errors of metabolism.

Hence, the answer is option D.