Chapter·PsychiatryGenetic and Metabolic Disorders

Newborn ScreeningDownloads

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Sample Questions

1

The following cost-effective investigations are routinely recommended in the screening of antenatal mothers, EXCEPT:

ABlood sugar levels for GDM

BVDRL for syphilis

CUrine analysis for bacteriuria

DEchocardiography for cardiac disease

2

Which diagnostic tool is preferred for metabolic disease screening in children?

AUrinalysis

BGenetic testing

CComplete Blood count

DTandem mass spectrometry

EPlasma amino acid analysis

3

An infant presented with vomiting, malnutrition, blue eyes, blonde hair & fair skin. On investigation, Guthrie test was positive. All are true regarding this disease EXCEPT:

APhenyl acetate positive in urine

BMental retardation is present

CHypopigmentation due to tryptophan deficiency

DDue to PAH enzyme defect

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