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البرنامج الوطني للكشف المبكر على حديثي الولادة

 
 

الزيارات : 118

التاريخ : 04-10-2010

 
 

عن الملف :

المرفقات : لا يوجد

 
 

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 

 

 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) 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

 

Results:

 

 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

 

Procedure Guidance. 

 

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.

 

SAMPLE

 

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

 

SAMPLE ANALYSIS

 

 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.

 

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