COURSE TITLE: Newborn Screening: “Save Babies One Foot at a Time”

SPEAKER: Dr. Amabelle V. Cruz

DATE/TIME: October 8, 2015

VENUE: Ricardo J. Cardinal Vidal Theater

Introduction

According to United Nations, “the number of children in developing countries who died

before they reached the age of five has already decreased from 100 to 72 deaths per 1,000 live

births between 1990 and 2008.″ While this is a positive development, it is far from the target

posed by the 2015 Millennium Development Goals, which aims to reduce child mortality to 26.7

deaths per 1,000 live births by 2015.

Neonatal metabolic screening began in the early 1960s with the work of Robert Guthrie, who

developed a screening test for phenylketonuria (PKU) and a system for the collection and

transportation of small blood samples on filter paper. The screening technique he developed (the

Guthrie test) was a bacterial inhibition assay. It was based upon the principle that the inhibition of

bacterial growth on an agar plate produced by a biochemical compound (on a disc) is prevented

by an amino acid or metabolite with a structure similar to the inhibitory substance. When a blood

specimen contains greater than normal quantities of an amino acid or metabolite, a large growth

of bacteria occurs around the disc.

Newborn screening is the practice of testing every newborn for certain harmful or potentially

fatal disorders that are not otherwise apparent at birth. Many of these are metabolic disorders that

interfere with the body's use of nutrients to maintain healthy tissues and produce energy. Other

disorders that screening can detect include problems with hormones or the blood. In general,

metabolic and other inherited disorders can hinder an infant's normal physical and mental

development in a variety of ways. And parents can pass along the gene for a certain disorder

without even knowing that they are carriers.

With a simple blood test, doctors often can tell whether newborns have certain conditions

that eventually could cause problems. Although these conditions are considered rare and most

babies are given a clean bill of health, early diagnosis and proper treatment can make the

difference between lifelong impairment and healthy development. The NBS was integrated into

the public health delivery system with the enactment of Republic Act 9288 or Newborn Screening

Act of 2004.

The Department of Health (DOH) Advisory Committee on Newborn Screening (ACNBS)

has approved the implementation of the expanded newborn screening program which will be

offered as optional to parents in all participating facilities. . Newborn screening program in the

Philippines currently includes screening of six disorders: congenital hypothyroidism (CH),

congenital adrenal hyperplasia (CAH), phenylketonuria (PKU), glucose-6- phosphate

dehydrogenase (G6PD) deficiency, galactosemia (GAL) and maple syrup urine disease (MSUD).

The expanded screening will include 22 more disorders such as hemoglobinopathies and

additional metabolic disorders, namely, organic acid, fatty acid oxidation, and amino acid

disorders. The latter are included in the standard care across the globe.

The formal recommendation to expand the coverage of the NBS program was prompted by

the results of the study Enhancing case detection of selected inherited disorders through

expanded newborn screening in the Philippines by Dr. Carmencita Padilla and Dr. Tomas Aguirre

of University of the Philippines Manila. The data of Filipino newborns screened through the

California newborn screening program (CNSP) from 2005 to 2009 revealed that serious disorders

where detected from CNSP which are not included in the existing program of the country.

Source

Alex R Kemper, MD (2015) http://www.uptodate.com/contents/newborn-screening

DOH approves expanded newborn screening program. http://www.pchrd.dost.gov.ph/index.php/news/r-d-updates/3137-doh-approves-expanded-newborn-screening-program

Moving On: Expanded Screening for Filipino Newborns 10th Newborn Screening Convention(October 2, 2012). www.lorenlegarda.com.ph/moving-on-expanded-screening-for-filipino-newborns-10th-newborn-screening-convention/

Save Babies Through Screening Foundation. http://www.savebabies.org/video.html

Time Frame 1-2 hours

Audience

The participants for the lecture will be composed of staff nurses from various departments so

that they will be familiarized with the newborn screening procedure.

Methodology

Lecture using a PowerPoint presentation

Post Test

General Objectives

At the end of the lecture, the participants will gain insight and be aware of newborn

screening and of their respective responsibilities in offering newborns the opportunity to undergo

newborn screening

Specific Objectives

Identify the concepts and principles of the metabolic and other inherited disorders

newborn screening can detect

Be familiar with the Expanded Newborn Screening

Outline management of the detectable disorders in newborns