To celebrate
50 years of newborn screening in the US, I thought I’d highlight this important
health care early diagnosis tool.
In the United
States and abroad babies that are born in a hospital are screened before they
leave the hospital. For those that were not
screened before leaving the hospital, they can be checked at a hospital or
clinic within a few days of birth. Only a few drops of blood are needed from
the baby’s heel.
Sickle cell disease is one of many conditions that are diagnosed with these few drops of blood.
This is critical
for early diagnosis of a baby with sickle cell disease because they are at risk
for harmful infections. It is helpful to know about this condition as soon as
possible.
Once diagnosed, these babies can be given a daily dose of penicillin,
an antibiotic medicine, to help prevent infections. Although the penicillin
will not change the fact that the baby has sickle cell disease, it can help
prevent serious complication problems.
In a recent article Dr. Kwaku Ohene-Frempong, Director Emeritus of the Comprehensive
Sickle Cell Center at Children’s Hospital of Philadelphia, President of the
Sickle Cell Foundation of Ghana, and a NICHQ faculty member talked about The importance of sickle cell screening
and disparities between the US and abroad. (December 18, 2012 article
by NationalInitiative for Children's Healthcare Quality)
“Why is screening for sickle cell disease
important and what is the current state of screening?
In the United States, SCD testing is now largely part of
existing newborn screening programs, so babies who have SCD are referred to appropriate
medical resources. Previously, the first three years of life used to have the
highest mortality in SCD. Now in the United States, we don’t see many deaths in
the first three years, which is a real triumph for newborn screening and the
care that follows. However, there is still a lot of work to be done in parent
education and carrier screening, both in the United States and abroad. It is
especially important in African countries where SCD occurs far more frequently
but medical care is far less available.”
“Why is it important to follow-up with babies who are carriers
of one of the sickle cell genes if they don’t need treatment?
When a
baby tests positive for being a carrier of SCD, the baby may not need any
medical care but the parents could have another child who inherits SCD. If both
parents are carriers of the sickle cell gene or one carries that gene and the
other carries a related abnormal gene, they can have a baby with a type of SCD.
You need to let the parents know so they can be tested and counseled on the
risk of having subsequent babies who may have SCD.”
“Africa has the most number of SCD cases of
any region. What are some of the main differences you see in care and screening
there?
It’s a
completely different public health problem in Africa. The World Health Organization
estimated that in West Africa, SCD contributes somewhere between 9 to 16
percent of deaths for children under the age of five. It’s a major public
health problem, but currently no country in Africa has nationwide newborn
screening. The exception is Ghana, which has recently begun to expand a pilot
newborn screening project into a national program within the public health
service. There are small pilot screening projects in some countries such as
Benin, Senegal, Mali, Angola, Tanzania and others.“
Thank you Dr. Ohene-Frempong for what you do at NICHQ. The work your doing in Ghana is much appreciated, too. There is a need to universally (and internationally) test newborns for no other reason than to get them needed care as soon as possible. Let’s
get our babies tested and
support their long life of good health.
References:
Save Our Babies.org
National Initiative for Children’s Healthcare Quality (NICHQ)
Center forDisease Control (CDC) Newborn Screening
National Institute of Health Newborn Screening – Genetics Home Reference
Working to Improve Sickle Cell Health Care - (WISCH)
