Newborn Screening

Newborn Screening
By:Dietrich Matern, M.D., FACMG
Biochemical Genetics Laboratory
Mayo Clinic College of Medicine
Rochester, MN

Objectives
• Demonstrate a deeper understanding of newborn screening (NBS);
• Be aware of available tools to react appropriately to abnormal results.
* What is Newborn Screening?
* Impact on Medical Practice
* What’s next in newborn screening?

Outline
What is Biochemical Genetics?
To achieve early detection and prevention of disease, Biochemical Genetics has a strong emphasis on screening based upon the analysis and interpretation of metabolic profiles in body fluids and tissues:

* Prenatal diagnosis (at risk patients)
* Newborn screening (pre-symptomatic patients)
* High risk screening (symptomatic patients)
* Postmortem screening (metabolic autopsy)

Newborn Screening
* aimed at identification of conditions for which early intervention can prevent
- mortality
- morbidity
- disabilities
* performed by analysis of diagnostic markers in blood spots collected on filter paper on the second day of life

Treatment: Phe-restricted diet
Prognosis: excellent with initiation of treatment shortly after birth
The Traditional NBS Model (Testing as SIMPLE as Possible)

MCAD Deficiency
Drivers of Expansion
Acylcarnitine Analysis
NBS by MS/MS (Multiplex Testing)
Primary Evaluation Criteria of Conditions Considered for Newborn Screening
SECONDARY TARGETS
Impact on Medical Practice Pediatrics/Family Medicine only?
Case Report
Maternal Disease Identified by Newborn Screening
CONCLUSIONS
2nd Tier Tests
Changing CAH Screening in MN
Partial List of Candidate Conditions
Familial Hypercholesterolemia
Conclusions

Newborn Screening.ppt

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Newborn Screening in Wisconsin

Newborn Screening in Wisconsin

What Is Newborn Screening?

* Newborn screening is the process of testing a population of newborns to identify those affected with certain treatable disorders early on, preventing potentially serious medical complications
* Newborn screening programs include:
o Testing - Treatment
o Follow-up - Education for parents/providers
o Confimatory Diagnosis


* Every state in the US has a newborn screening program
* No federal guidelines for newborn screening
* Newborns in WI are screened for “48” different disorders, including hearing
* Screening decreases morbidity and mortality, and increases quality of life for babies with these disorders
* Testing and parental notification are required by state law
* Requires that parents be informed of testing
o “No tests may be performed…unless the parents or legal guardian are fully informed of the purposes of testing…and have been given reasonable opportunity to object…”
* Parents may refuse based on religion
o “This section shall not apply if the parents… object...on the grounds that the test conflicts with their religious tenets and practices

Why Is Newborn Screening Done?
* Early identification and treatment of newborns affected with certain congenital disorders can prevent serious medical complications
* Cannot test for every congenital disorder; Criteria for testing must be met

Newborn Screening Criteria
* Occurs in at least 1/100,000 births
* Detection in the neonatal period leads to a demonstrable reduction in morbidity and mortality
* Potential for effective therapy
* Reasonable cost
* Laboratory feasibility
* Because PKU was the first disorder screened for, newborn screening is sometimes mistakenly called the “PKU test”

“PKU TEST”
How Are Samples Taken?
* Heel prick
* Fill all circles and allow card to dry completely
* Send cards to State Laboratory of Hygiene within 24 hours of collection
* Samples are run the day they are received
* Specimens with all normal results available within 48 hours
* Color scheme used for reports
o White paper = normal results
o Gold paper = definite abnormal
o Blue paper = possible abnormal

Results Reporting
* Physician is contacted immediately whenever a result is abnormal
o Physician contacts the parents and arranges any follow-up testing necessary
o Immediate notification important for treatment in some disorders

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Tonsillectomy, and Adenoidectomy

Tonsillectomy, and Adenoidectomy
By:Babak Saedi
Assistant professor of Tehran university


Introduction
History
Anatomy
Tonsils
* Plica triangularis
* Gerlach’s tonsil
Adenoids
* Fossa of Rosenmüller
* Passavant’s ridge
Blood Supply
Tonsils
* Ascending and descending palatine arteries
* Tonsillar artery
* 1% aberrant ICA just deep to superior constrictor

Adenoids
* Ascending pharyngeal, sphenopalatine arteries
Histology
Tonsils
* Specialized squamous
* Extrafollicular
* Mantle zone
* Germinal center
Adenoids
* Ciliated pseudostratified columnar
* Stratified squamous
* Transitional
Common Diseases of the Tonsils and Adenoids
* Acute adenoiditis/tonsillitis
* Recurrent/chronic adenoiditis/tonsillitis
* Obstructive hyperplasia
* Malignancy
Acute Adenotonsillitis
Etiology
GABHS most important pathogen because of potential sequelae
* Throat culture
* Treatment
Microbiology of Adenotonsillitis
* Streptococcus pyogenes (Group A beta-hemolytic streptococcus)
* H.influenza
* S. aureus
* Streptococcus pneumoniae
Tonsil weight is directly proportional to bacterial load.
Acute Adenotonsillitis
Differential diagnosis
Infectious mononucleosis
Malignancy: lymphoma, leukemia, carcinoma
Diptheria
Scarlet fever
Agranulocytosis
Medical Management
Obstructive Hyperplasia
Unilateral Tonsillar Enlargement
Apparent enlargement vs true enlargement
Non-neoplastic:
* Acute infective
* Chronic infective
* Hypertrophy
* Congenital
Neoplastic
Peritonsillar Abscess
ICA Aneurysm
Pleomorphic Adenoma
Other Tonsillar Pathology
* Hyperkeratosis, mycosis leptothrica
* Tonsilloliths
Candidiasis
Syphilis
Retention Cysts
Supratonsillar Cleft
Indications for Tonsillectomy
AAO-HNS:
Indications for Adenoidectomy
Obstruction:
* Chronic nasal obstruction or obligate mouth breathing
* OSA with FTT, cor pulmonale
* Dysphagia
* Speech problems
* Severe orofacial/dental abnormalities
Infection:
* Recurrent/chronic adenoiditis (3 or more episodes/year)
* Recurrent/chronic OME (+/- previous BMT)
PreOp Evaluation of Adenoid Disease

* Triad of hyponasality, snoring, and mouth breathing
* Rhinorrhea, nocturnal cough, post nasal drip
* “Adenoid facies”
* “Milkman” & “Micky Mouse”
* Overbite, long face, crowded incisors
PreOp Evaluation of Adenoid Disease
Differential diagnoses
* Allergic rhinitis
* Sinusitis
* GERD
* For concomitant sinus disease, treat adenoids first
Evaluate palate
* Symptoms/FH of CP or VPI
* Midline diastasis of muscles, bifid uvula
* CNS or neuromuscular disease
* Preexisting speech disorder?
TONSIL SIZE
Avoid gagging the patient
Complications
#1 Postoperative bleeding
Other:
* Sore throat, otalgia, uvular swelling
* Respiratory compromise
* Dehydration
* Burns and iatrogenic trauma
Rare Complications
* Velopharyngeal Insufficiency
* Nasopharyngeal stenosis
* Atlantoaxial subluxation/ Grisel’s syndrome
* Regrowth
* Eustachian tube injury
* Depression
* Laceration of ICA/ pseudoaneursym of ICA

Tonsillectomy, and Adenoidectomy.ppt

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