Genetics: Newborn Screening: Block I

Front 1

Current newborn screening panel tests for:

Back 1

29 disorders and includes hearing screening.

Front 2

Tests are ______ tests- not diagnostic but identify individuals who should have further diagnostic tests.

Back 2

Screening

Front 3

How do we screen:

Back 3

Mostly Tandem Mass Spectrometry

Front 4

This condition is tested with an enzyme immunoassay (EIA) for TSH and T4 and if levels are low, referred to an endocrinologist:

Back 4

Congenital Hypothyroidism (CH)

Front 5

This condition is tested for with a screen for pancreatic enzyme immunoreactive trypsinogen (IRT). If condition is present, patient is referred to pulmonology:

Back 5

Cystic Fibrosis (CF)

Front 6

This condition is tested for with a screen for 17-OH progesterone - if abnormal, pt is referred to endocrinology.

Back 6

Congenital Adrenal Hyperplasia (CAH)
Patients have abnormal adrenal function- lack of cortisol and aldosterone, ambiguous genitalia, and excess androgen.

Front 7

This condition is screened for by a qualitative enzyme immunoassay (EIA)

Back 7

Galactossemia - Non TMS test

Front 8

This condition is tested for with acylcarnitine profile - fatty acid disorder that affects breakdown of carbon chains:

Back 8

MCAD

Front 9

This is an amino acid disorder that causes high levels of detectable Phe in TMS testing.

Back 9

PKU

Front 10

Citraline Anemia has which kind of screening?

Back 10

Amino Acid

Front 11

What are three ongoing goals of newborn screening?

Back 11

1. educating professionals and public
2. performing test properly
3. treating diagnosed patients

Front 12

Aim of NBS is to identify conditions for which _____ ________ can prevent or reduce mortality, morbidity, and/or disabilities.

Back 12

Early Intervention

Front 13

Why test them as newborns?

Back 13

To catch harmful or potentially fatal disorders that aren't otherwise apparent at birth.

Front 14

What are three criteria for newborn screen?

Back 14

1. Identifiable at a stage which it would not be recognized clincally
2. Available sensitive and specific test
3. Benefits of early detection

Front 15

This amino acid disorder is indicated on TMS by increase in citrulline levels:

Back 15

Citrullinemia.

Front 16

Name the three amino acid disorders tested on NBS that we need to know:

Back 16

1. PKU
2. Maple Syrup Urine Disease
3.Citrullinemia

Front 17

This aminio acid disorder detected on the newborn screen shows a buildup of leucine:

Back 17

MSUD