New born Screening Guidline
New born screening services in the Kingdom of Bahrai
Dr Shaikha S. Al Arrayed, MBChB,DHCG,PhD.
Many newborns screening studies had been performed in Bahrain. A study was performed in 1985 reported the incidence of sickle cell disease, to be 2.1% and of SCT to be 11%. Another pilot study on hempglobinopathies in 2002, showed incidence of 1% for SCD with a decline of 50%.
A pilot study on metabolic disorders done in 1995, showed high incidence of these disorders
Recently, we started the National newborn screening for Hemoglobinopathies in May 2007
The projects received national budget, and the testing is done in central laboratory at Salmaniya hospital
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) prior to 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 haemoglobin fractions present, a second line test by Iso electric focusing is used to confirm the presumptive diagnosis.
The genetic department is responsible for:
Informing parents of the positive results, confirming results and arranging clinical follow up of infants with sickle cell disease by pediatricians
The MCH department is responsible for
Confirming the diagnosis if required after 3-6 months. and referring the newly diagnosed cases to the center
The Pediatric department is responsible for early management and treatment
during the last ten months, we have screened 10,000 infants. The incidence of affected newborns was found to be 0.7- 0.8 % . The average number of 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 trend..
Screening for other disorders
At present, there are newborn screenings for blindness and deafness in Bahrain.
We are in the final stages of preparing for national newborn screening for hypothyroidism.
This 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
The screening should be offered to all infants
-INFORMED CONSENT: An explanatory leaflet detailing the purpose, process and outcomes must be provided to the parent(s) prior to screening. by midwives. the decision to opt out of testing must be documented.
Cord blood is be 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, including the baby's CPR number
Indication if the child has been transfused
The gestation of the infant
If a multiple birth, state rank
using HPLC can be reliably undertaken to detect the haemoglobin 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 using mass spectrometry) or analysis of DNA extracted from blood.
No screening programme is 100% specific and sensitive as it is not a diagnostic service. If in doubt, it is important that no firm identity is reported until further testing is undertaken.
INTERPRETATION OF RESULTS is done by 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 the child doctors should be informed by personal contact.
Infants with no abnormality detected: Infants heterozygous for a haemoglobin variant: Family will be informed by MCH doctor.
Infants found to have condition other than sickle cell disorder which requires follow up: send to 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 receipt of samples and the reporting of results.
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.
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.
Most of these will be infants who are heterozygous for the rarer variants and will have no clinical or hematological manifestations