30 Years


Newborn screening services in the Kingdom of Bahrain :

Dr. Shaikha S. Al Arrayed, MBChB, DHCG, PhD.

Many screening studies have been performed for newborns in Bahrain. A study was performed in the year 1985 and reported the incidence of sickle cell disease, to be 2.1% and of SCT to be 11%. Another
pilot study on haemoglobinopathies in 2002, showed an incidence of 1% for SCD with a decline of 50%.

A pilot study on metabolic disorders was done in the year 1995 and showed a high incidence of these disorders.

We started the National newborn screening for Hemoglobinopathies in May 2007.

The projects the national budget, and the testing was done in the central laboratory at Salmaniya hospital.

NBS Guidelines:

The screening is offered to all infants.

INFORMED CONSENT: An explanatory leaflet detailing the purpose, process, and outcomes of newborn screening for sickle cell conditions is provided to the parent(s) before
screening. The decision to opt-out of testing should be documented.

SAMPLE: Cord blood is collected at birth by nurses, and posted to the neonatal screening laboratory within 24 hrs of collection.

SAMPLE ANALYSIS: HPLC is used to detect the hemoglobin fractions present, a second line test by Isoelectric Focusing is used to confirm the presumptive diagnosis.

The genetic department is responsible for:

Inform parents of the positive results, confirmed results and arrange clinical follow-up of infants with sickle cell disease by pediatricians.

The MCH department is responsible for:

Confirm the diagnosis if required after 3-6 months and refer the newly diagnosed cases to the center. The pediatric department is responsible for early management and treatment.

Results:

During the last ten months, 10,000 infants were screened. The incidence of the affected newborns was found to be 0.7- 0.8% . The average number of the affected newborn is five babies each month. We expect 60-70 affected infants to be born each year in Bahrain , the figure is still high although there is a decline in the trend.

Screening for other disorders:

At present, there are newborn screenings for blindness and deafness in Bahrain.
We are in the final stages of preparation for national newborn screening for hypothyroidism which will start within the next few months.

We are planning to perform a pilot study on metabolic disorders.

Newborn Screening Program for Sickle Cell Disease and Thalassemia Procedure Guidance:
The screening should be offered to all infants and an explantory leaflet detailing the purpose, process, and outcome will be provided to the parent(s) prior to the screening by midwives. The decision to opt-out of
testing must be documented.

SAMPLE

Cord blood is collected at birth and posted to the neonatal screening laboratory.
It is essential that the following are provided on the blood sample form:

Adequate demographics for the infant and the mother. Baby’s CPR number.
Indication if the child has been transfused.
Gestation of the infant.
State rank in the case of a multiple birth.

SAMPLE ANALYSIS:
HPLC can be reliably undertaken to detect the hemoglobin fractions present.
In the case of suspected abnormality, a second line test is used to confirm the presumptive diagnosis.
In some cases, diagnosis can only be achieved by either protein sequence analysis (eg. by using mass spectrometry) or analysis of DNA extracted from blood.
No screening program is 100% specific and sensitive as its not a diagnostic service. In case of doubt, it is important that no firm identity is reported until further testing is
undertaken.

INTERPRETATION OF RESULTS is done by a Hematologist

REPORTING OF RESULTS:

The parents and doctors should be informed of all the outcomes of screening.
Laboratories are responsible for sending results through computer to Genetic department – for onward dissemination of results to individual doctors and parents.

Action required for particular categories of results:

Infants with sickle cell disorders:

Results should be sent by the laboratory to the genetic parents and doctors to be informed by personal contact.

Infants detected with no abnormality : Infants heterozygous for a haemoglobin variant: Family will be informed by the MCH doctor.

Infants found to have a condition other than sickle cell disorder should be sent to the Genetic department for confirmation.
Genetic department , hematology clinic and Child Health Computer systems or equivalent should have links to laboratories to allow the notification of the receipt of samples and the
report of results.

FOLLOW-UP PROCEDURES:

Infants with sickle cell disorders:

Diagnostic testing should be undertaken on samples taken before 2 months of age. Parental samples (where required) should also be tested at the same time.

Other clinically significant conditions: same as above

Carriers of Common Haemoglobin Variants (Hb S, C, DPunjab, E, OArab ):
Confirmation by using second and third line testing Carriers are usually asymptomatic but can be at risk under particular high stress situations.

Rarer Haemoglobin Variants:
Most of these will be infants who are heterozygous for the rarer variants and will have no clinical or hematological manifestations.