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Newborn Screening In Saudi Arabia

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Published: Mon, 5 Dec 2016

Ask the public what Newborn screening is, and most individuals a common man hears the words Newborn Screening, most immediately picture a baby’s foot being stuck by lancet, with the blood being collected on a Dried Spot Card. Sometime later their baby’s Doctor tells them that” everything was fine”. Or they may have no clue at all.

Newborn screening is a complex set of interlocking systems that use population based screening test panels to identify newborns with conditions that may benefit from rapid identification and or treatment. The generally acknowledged components of a newborn screening system includes the following:

Screening( spacemen collection, submission, and testing).

Follow- up abnormal and unsatisfactory test results.

Confirmatory testing and diagnosis.

Medical management and periodic outcome evaluation.

Education of healthcare professionals, the parents, and eventually the patient.

System quality assurance, including program evaluation, validity of testing.

Principals of Newborn Screening

Classical Presentation of Undiagnosed Patients

An increasing number of newborns may present with inborn error of metabolism in the early hours of postnatal life. Disorders like urea cycle defects, organic acidemias, and amino acids metabolism, present with different symptoms including, lethargy, refusal or poor feeding, and diverge symptoms of acute or chronic encephalopathy. Tachycardia, tachypnea, or even apnea may be a prominent signs. Non ketotic hyperglycinemia, myobedyneum co-factor deficiency with severe metabolic acidosis could be the first presenting symptom in a sick neonate.

In the differential diagnosis of these infants, sepsis may be the initial cause in most of the cases, but hypoglycemia may be the only symptom underlying problems of inborn error of metabolism, glycogen storage diseases, gluconeogenesis defects or fatty acid oxidation defects.

Later in in infancy inherited metabolic disorders with dysmorphic features, and syndromic malformations may escape the early onset presentation and appear later in life with the same or different symptomatology.

The need for early detection and early start of management is of paramount importance, the time factor could not be ignored, for these reasons neonatal screening programs are very important in identifying these infants , diagnose them and report them in a considerable time to prevent morbidity and mortality which will be the natural end point. (Burton, 1998)

Emerging Techniques

Population based newborn screening became possible with the introduction of the Guthrie test for Hyperphenylalanninemia (PKU) in 1967. Recent advances in diagnostic techniques have substantially increased the number of conditions that can be detected from a single dried blood spot card.

Tandem Mass Spectroscopy

MS/MS gets increase attention since it was first added to newborn screening programs . It greatly helped the newborn screening of metabolic diseases and replaced the previous concept of one disease per test approach before it is discovery. In addition to the known(PKU) testing it can identify many other metabolic diseases of newborn screening programs in different countries including Saudi Arabia. Also it is successfully used to test for amino acids degradation disorders and fatty acids oxidation, and other metabolic diseases. Few drops of blood or even one drop is enough for MS/MS, and it has very low false positive yield estimated to be 0.26% (E.W.Nalyer) and (Levy), Compared to 1.5% in New England Newborn Screening Program using traditional bacterial assay methodology (sweetman, 2001).

O.Y.Al-Dirbashi et al. reported a new LC-MS/MS assay for cystine, and the dibasic amino acids ( ornithine, lysine and arginine ) for diagnosis of Cystiuria in Saudi Arabia. They also reported a novel splice-aceptor site mutation in the SLC7A9 gene, which they believe is the cause of the phenotype observed in four siblings from a first – cousin marriage, this report supports the need for such tool for newborn screening program in Saudi Arabia, and also indicate it is sucsseful trail by Saudi health care providers. (O.Y.AL-Dirbashi, 2007)

DNA-based Techniques

DNA based techniques are introduced recently to newborn screening programs, In Saudi Arabia it is available in King Faisal Specialist Hospital and Research center and other few places as well. The tests are designed to test many different conditions in one blood sample, and have relatively rapid results in spite of it is accuracy, however it needs trained experts to operate it. DNA -based test added great value for testing. Together with the advanced technology like MS/MS, IEF, and HPLC for hemoglobinopathies variants, DNA arrays used in sequencing, and labeled bead technologies are also used with great sucess. (S.Watson, May 2

Current state of Newborn Screening in the Middle East and Saudi- Arabia

By the year 2009 there are only four countries in the middle East that are executing voluntary national newborn screening programs:

Saudi Arabia

Jordon

Kuwait

Lebanon

The Arab League consists of 22 different countries, and only 4 countries are thinking of newborn screening programs in their lands, this will make Saudi Arabia as the richest country in the League think double to acquire this facility to their own citizens and the near by Gulf countries. In Saudi Arabia, there are three stakeholders guiding the development of Newborn Screening Programs:

Ministry of Health (MOH).

Ministry of Health in Saudi Arabia has the primary responsibility of Newborn Screening in the whole country. With it is huge budget and recourses it has at least one big hospital in each of the five regions of Saudi Arabia which is the center for Newborn Screening.

King Faisal Specialist Hospital and Research Center ([email protected]).

Since 2005 King Faisal Specialist Hospital and Research Center in Riyadh started screening for congenital hypothyroidism (CH), an expanded program started in late 2007 to screen for extra three new diseases namely, congenital adrenal hyperplasia (GAH), Galactosemia (GLT), and Biotinidase defiency (BIOT). Through her initiative with PerkinElmer, KFSHRC hopes to double it is screening rate to 200,000 newborns by the end of 2008, and to 400,000 by the end of 2009. KFSHRC is using Specimen Gate ( {R}), PerkinElmer screening laboratory information management system (LIMS); this software will allow the hospital to implement a comprehensive solution that will electronically trace laboratory work flow from sample recipient and preparation to analytical steps to quality control review, reporting and follow-up(support).

Prince Salman Center for Disability Research (PSCDR).

Prince Salman Center for Disability Research (PSCDR), also located in Riyadh, started to test for congenital hypothyroidism (HC) in 2005, collaborating with (KFSHRC) and ( MOH), they became the three stakeholders of Newborn Screening Program in the capital Riyadh serving 25% of the population of Saudi Arabia, the other four regions are under the director of Ministry of Health.

The Kingdom of Saudi Arabia

History of the Kingdom of Saudi Arabia

Saudi Arabian History started before the Prophet Abraham arrival to Mecca with his son Ismail and his wife Hajir, Abraham continued his journey to Jerusalem while the descendent of Ismail where the present Arabs. Since that time Mecca became the place where people from all over the ancient world come for Pilligremage every year, they continue to do so to the present time.

Prophet Mohamed was born in Mecca in (751 after the prophet Jesus), and when he became messenger he made Medina his capital and the Islamic Empire expanded to reach Europe in the west and China in the east , but still Mecca and Medina remained the Holly places of Islam and the land of God, till today. It was governed by Islamic Laws since that time.

In the recent history Saudi Arabia was governed by the Turkish Sultanate Empire for a long time. The Turkish occupation was ended by the end of the first World War in 1918.

Then there was a period of the first Saudi State (1744-1818). The second Saudi State took place between (1818-1900). The third Saudi State started in (1900 – present):

All Saudi Arabia was united by King Abdul-Aziz Al Saud, his sons are the kings of Saudi Arabia today. (site, 2010)

Geography and Economy

Location:

 Middle East, bordering the Arabian Gulf and the Red Sea, north of Yemen

Area: 

total: 1,960,582 sq km 

Saudis Ethnic Subgroups

Saudi’s are national Arabs they occupy the Arabian Peninsula since a long time. At the present time, ethnic Saudi compromise 90% of Saudi Arabia, 10% are of Afro- Asian descent but carry the Saudi nationality.

Saudis are nearly 100% Muslims, as their land is the land where Prophet Mohamed was born and begins the Islamic State in Medina. The official and spoken language is Arabic.

Foreign labor

The Saudi government is promoting Saudi nationals to take over their countries huge opportunity for labor work, however in reality there is millions of foreign workers living and working in Saudi Arabia. The population statistics puplished by Saudi government officials ranged between 7-8 millions. This is important to know because any attempt to plan for universal newborn screening program in Saudi Arabia should consider this huge number of immigrant compare to the relative small number of the total population. (site, Saudi Arabian resources, 2010)

.

Medical Framework

The number of the hospitals in the Kingdom of Saud Arabia amounted to 314 (1999), the total number of beds at these hospitals are 45,730 – 47,800 at the Ministry of Health hospitals. (refrence) There are also other hospitals with large numbers of beds like:

University hospitals.

Armed Forces Military .

Security Forces.

National Guard.

Aramco Meddical Services.

Royal Commission Medical Services

Public Health Facilities

There is 1.761 Primary Health Care Centers in Saudi Arabia, other Primary Health Care facilities also exist for the above mentioned health care providers serving their own employee.

Private Health Facilities

There are more than 200 Private hospitals in the Kingdom and less than75 private clinics in the Kingdom. 8,760 beds in the private sector hospitals. (site R. E., 2010)

Insurance-Private sector

Insurance introduced recently in Saudi Health system, but rapidly expanded after the law of health insurance of all employee in the private sector for Saudis as well as foreigners, all Saudis has free access to any Ministry of Health facility together with any foreigner government employee. There is no insurance in government hospital or primary health center. I the last two years government hospital started to accept non-government employee who has insurance or cash payers.

A Model Saudi – Arabian Uniform Panel

The population of Saudi-Arabia is 27.6 millions, all are Arab Muslims descended from different tribes. There is relatively high birth rate (50-75%), with high percentage of first -cousin marriages. The annual birth rate is between 500,000-800,000 babies are born each year. Hemoglobinopathies, inherited metabolic diseases, neurogenic disorders and birth defects are relatively common among population. There is rather slow progress in developing and implementing preventive Genetic Programs owing to the legal, cultural, political and other issues. Research spending is rather soft in the whole Middle East and Arab Gulf region; Saudi-Arabia is not an exception. There are numerous pilot studies that highlighted the high incidence of genetic defects and the need for newborn screenining programs. The newborn screening programs in the Kingdom of Saudi Arabia varies from screening one to four diseases and the coverage is not complete. (King Faisal Specialist Hospital and Research Center, 2010)

In Saudi Arabia there are Five Regional Newborn Screening Programs. Central Region in the capital of Saudi Arabia, West Region in Jeddah, North west in Tabouk, East Region in Dammam, South Region in Najran, all these centers are under Ministry of Health umbrella, all are running Congenital hypothyroidism in cord blood screening programs. The programs started at the end of 1988 in one region other regions started later. Each region has a regional laboratory, run by Ministry of Health personnel. King Faisal Specialist Hospital in the capital Riyadh is an exception, it is the leading provider of neonatal screening for genetic disorder in the whole Arabian Gulf region, which allows for the early identification and treatment of otherwise debilitating or life threatening conditions, and has become one of the most accepted procedures in preventive pediatrics. (site M. S., 2010)

There is different genetic conditions in the Arab population with unique complexes of inheritance in a rapidly increasing population, with rich historical, cultural, traditional, and religious commonality. Large family size, high rate of consangious marriages and intermarriages, characterize the Saudi Arabian population and made it unique in view of genetic disorders and need for preventive genetic measures. (M.A.F.El-Hazmi, 1999).

In one study published in (2007), A.A. Sadalla and M.S. Al-Rahed estimated the population of the Middle and north Africa is (400 Millions) the majority of Islamic Faith and mostly Arabs, the birth rate is relatively high (10 Millions ) per year. There is high rate of conangious marriages (25-70%). Hemoglobin disorders, inherited metabolic diseases, neurogenic , and birth defects are relatively common among population. Rather slow progress is developing and implementing preventive genetics programs owing to legal, cultural, political, and fanatical issues. (A.A.Sadalla, 2007)

Islamic teaching encourage counseling, the Prophet Mohammed recommended sincere, and good advice counseling, should be trustworthy from knowledgeable persons in their field, and should obtains absolute confidentiality. (M.A.Albar, 1999).

Many governments of the Arabic speaking world (Egypt, Syrian Arabic Republic, Lebanon, Morocco, and Saudi Arabia, for example) have been promoting premarital medical examination.

In Islam it is acceptable for the use of temporary means of contraception if couple is agreeable, and no harm is likely to result. Donation of sperm, ovum, embryo, or motherhood surrogacy are limited to within the wedlock. There should be no third party and hence between wife and husband only. (M.A.Albar, 1999).

Adoption was abrogated by the Holly Quran, but does not regognise it as parenthood, and should not loose their biological parents names if known, if not nknowen they should be treated as brotherhood. Bringing up orphans is a great act of charity eneaged by Islam (M.A.Albar, 1999).

High percentages of consaguineous marriages and the tribal nature of marrages have resulted in high incidence of genitically based disorders. Management of these diseases incurs a high finantial cost with great burden on health care system and families. Between (1985-1989), inpatients pediatrics admission in one large Saudi hospital was (19%) due to congenital and genetically determined disorders. The high rate of consangeous marriages and the tribal nature of marrages, both led to homogenous population. Consaguinity in the Kingdom of Saudi Arabia is as high as (60%).

The burden in families with genetic disorders is paramount, which sometimes stigmatize the family and most parents try to hide the disorder from extended family members or friends with the fear of rejection from contemplated marriage due to the question of inheritance. The issues of prevention should be an utmost public health concern. There is evidence that prevention of genetics disorders lead to significant finatial savings and social benefits.

A newborn screening service, involving organised exammination of newborns in order to diagnose and treat specific disorders is an important step in preventing genetics disorders. There are clinical and biochemical aspects of neonatal screening and both are essntial for successful diagnosis and subsequently management. (N.Al-Odaib, 2003).

In a study conducted in King Faisal Specialist Hospital and Research Center ( the largest referral hospital for congenital and metabolic diseases in te country), Al-Odaib et al.reported the major Inborn Error of metabolism seen at a pediatrics clinic from (1998-2002) as follows: Organic Acidemias ( n=294) Amino Acid disorders (n=223); Lysosomal Storge diseases ( n=172); Methylmalonic Acidemia (n=72); Proprionic Acidemia (n=56); Glutaricacidurea type1 ( n=29); 3-Hydroxy-3-Methyl Glutaryl CoA Lyase Defiency 9N=26); Other Organic acidemias ( n=111); Marple syrup urine disease ( n=58); Classical Phenylketonurea ( n=29); Biopetrin dependent phenylketonurea ( n=29); Homocystinuria (n=33); Other Amino Acid disorders (n=70); Neiman -Pick disease type B (n=36); Multiple sulfatase defciency ( n=30); Morquo,s disease ( n=25).

They also suggested the roadmap for for prevention of genetic disorders in the Arabian Peninsula in the following criteria: a) Genetics counsiling. b) Pre- Implantation Genetics Diagnosis (PGD).

Recently the Saudi Government introduced a new ligislation regarding premarital testing for two common genetics disorders; namely, sickle cell trait and thalassemia. The legislation may be extended to include other genetic disorders. (N.Al-Odaib, 2003).

El-Hazmi et.al, published their experience with pre-marital screening program in Saudi Arabia. After their their discription of the the different process in introducing this important national screening program, they concluded that national history of blood genetic disorders in the Kingdom of Saudi Arabia, indicate clear relevance to malaria endemicity, whwre sickle cell, thalassemia, and red cell enzymopathies genes are frequent. Due to the development of modern transportation and civilisation, people move, and the gene(S) spread as well to different parts of the country.

Premarital screening program in Saudi Arabia was introduced, as means of prevention from the most common genetic diseases, only future objective assessment will judge the wisdom of the introduction of the program. (El-Hazmi, 2004).

At the Annual meeting of theWHO working Group on haemoglobinopathies held in Sardinia, April 1989. Professor Bernadette Modell from WHOcollaborating center for control of heriditary diseases from University College London (UK) concluded that:

The Hemoglobin disorder model guidelines outlined by WHO, showed that there is two possible strategies for newborn screening of hemoglobinopathies:

Selective testing of babies born,(i) to couples already known to be at risk, discovered at antenatal screening or already have affected child. (ii) women who are known to carry hemoglobin disorder. This is usually indicated in countries with rarew prevelance of hemoglbinopathies.

Universal screening of all newborns may be indicated in population with common hemoglobin disorders as significant number may be missed by selective testing. (WHO, 1989).

The prevalence of sickle cell disease in Saudi children and adolescents – a community based survey was conducted by Al-Qurashi MM, Al- Mouzan MI, at King Saud University, Riyadh in a sample of 54,682 children and adolescents from 13 diffrent regions of Saudi Arabia, over a peroid of two years (2004-2005). The prevalence of sickle cell disease was 24 per 10,000 in the population of Saudi Arabia, regional distribution showed the following: eastern region at the Arabian Gulf dominance of 145 per 10,000; followed by southern region 24 per 10,000; western regin of 12 per 10,000; and central region with 6 per 10,000. No cases in the northern regions. Female to male ratio 1:1. (Al-Gurashi, 2008).

Al-Mendlawi et.al pointed out that, Saudi Arabia is located withen the geographical distribution of SCA genotype that extends throughout the sub-Saharan Africa, Middle East, and part of Indian sub-contenent. The crrier frequency range from ( 5-40% ) or more in the population. Variation may disclose variation in study designs in the same country and in different areas as in Saudi Arabia. Despite that SCA remains a significant health burden in these countries. He urged the need for collaboration among regional countries to focus in reseach and intervention actions. (MD, 2009)

Glucose 6-phosphate dehydrogenase deficiency is an X-linked genetics disease,which can present with neonatal jaundice in the second day of postnatal life, usually it causes vairable degree of hemolysis, and in most cases it responds to simple or double phototherapy, in rare occasions if not diagnosed at an early time may present with high degree of hyperbilirubinemia, needingly excange transfusion. Complication by kernictrus was reported but exremly rare. IN a study conducted in the Western part of SaudiArabia Mohammed Ahmed and his colleges reported their data on G6PD: the total prevelance was (2%); boys (2.1%); girls (.9%); male : female ratio 3:1; (12%) associated with neonatal jundice. All responded to phototherapy, non has reccured. (Ahmed, 2005).

Nasralla Z., Al-Jame A., Abu Sarir H. reported in their stdy titeled Neonatal Screening for sickle cell disease. G6PD defiency and alpha thalassemia in Qatif and Al-Hasa, studied the prevelance of these diseases genes in those two areas in the eastern province of Saudi Arabia. The number of newborn studied were 12,220 neonates, (92.6%) of them were Saudis. The common phenotypes were: AF, AF Bartas, FS Bartas. Homozygos sickle cell was detected in (2.3% ); and (1.08%) in Qatif and Al- Hasa respectively. The frequency of sickle cell gene was (0.1545%) in Qatif, (0.1109%) in Al -Hasa. Alpha thalassemia Hb Bartas was (28%),(16%) in Qatif and Al-Hasa. G6PD prevelance was (30.6%) in Qatif, (14.7%) in Al-Hasa.

They concluded that Saudi population in Qatif and Al-Hasa are at great risk for hemoglobinopathies and G6PD defiency, neonatal screening programs are essential and cost effective and should be maintained as a routine practise. (Nasralla Z., 1998-Aug)

The study of 11,986 neonates at the Western part of Saudi Arabia by H.S.Habib and H.AbdelGaffar, between 1996-2004, usingTransient Otoacoustic Emission, sowed that the incidence of bilateral hearing loss to be (0.17-.018%). Confirmation of congenital hearing loss was achieved at (5.5 months), the incidence is higher than the I nternational figures of congenital hearing loss, they recommended newborn screening of congenital hearing loss. (H.S.Habib, 2005).

Siraj Zakzouk et.al, conducted an epidemological study named universal newborn hearing screening in Saudi Arabia found the prevelance of hearing impairment in Riyadh was 7.5%. Sensorineural hearing loss contribute to up to 2.6%. In another survey from different areas of Saud Arabia, approximately 10,000 children aged 0-15 years were screened. The prevelance of hearing impairment was 13%, most were treatable. 1.5% suffer from sensorineural permenant hearing loss, most of them are young age. 50% of them with heriditary risk factors, 30% without definite cause, but by physical exammination of other organs e.g eyes, and recent investigation techniques, identified causes such as infection could be reached. Most affected children were detected late. Early detection by neonatal screening programs, and early intervension was urged by the authors (Zakzouk, 2003).

M.Abduljabbar, and his colleges conducted a study in newborn screening for hypothyroidism, they asked this question and they tried to answer it: is umbilical cord total thyroxin measurment effective in new born screening for hypothyroidism? They tried to assess the performance of the use of cord blood for screening for primary congenital hypothyroidism (CH) in Saudi Aramco Medical Service Organization Thyroid Screening Program, in the eastern province of Saudi Arabia.

Atotal of 96,015 newborns wrew tested from January 1990 – December 2007, thefound (26) cases of primary congenital hypothyroidism (CH); (6) cases of transient hypothyroidism; (13) cases of centrl hyopthyroidism. They found this method of screening [ ( umbilical cord total thyroxin ( CB-TT4) measurment. In Samples with low T4 concentrations an additional measurment of cord blood (TSH) was made] resulted in 100% sensitivity, 98% specifity [ 95% CI 84-100, and 95%CI 98-98.2 ] respectivly. High mean recall rate of 1.9%. (M.Abduljabbar, 2009)

Al-Maghasmi, Al-Hawsawi, and others, studied 200,040 deliveries at Al-Madina area in north west region of Saudi Arabia, congenital hypothyroidism (CH), from cord blood samples of neonates. They found the prevelance of (CH) to be 1:4208 live births, (72%) were Saudi nationals, (28%) non- Saudi. Male: Female ratio is 1:3. The prevelance is the same as in other studies at different areas in Saudi Arabia (Al-Mughasmi, 2002).

The study reported by S.S.Al-Arrayed, in the State of Bahrain at the eastern boarder of the Kingdom of Saudi Arabia, connected to it by King Fahd Causway, with a population similar to the eastern province of Saudi Arabia found the rate of consnsangqinity to be (45-5%) in the previous generation, ( 39.4%) in the present generation. The rate of congenital abnormalities was found to be (2.7%) live birth. Genetic blood disorders in neonates found sickle cell disease (SCD) 2%, sickle trait (11%); thalassemia (24%). The most frequent metabolic diseases in Bahrain are: Marple syrup urine disease, Medium chain Acyl Co A dehydrogenase deficiency, Primary Carnitine deficiency, Methyl Malonic Acidemia, and Methyline Tetrahydrofolate reductase deficiency. The prevelance of Cystic Fibrosis common gene was 1:7,700. (s.s.al-arrayed, 1999).

In an article published by Afifi et al, challenges to national newborn screening program in Saudi Arabia was outlines as: finatial coverage, demografic distribution of newborns, public awarenesa, professional commitment with newborn screening, logistics of proper sample collection, transportation, and reporting mechanisms.

Funding will depend on recognised payers, possible sources of funding depend on but not limmited to: fees for tests charged directly from patients or insurance companies, fund raising by public campaigns, budget from MOH, in addition to to charity fund raising efforts.

The Saudi Arabian newborn screening program will need both dynamic” program rigisty” and continous ” program evaluation”, currently this role is played by King Faisal Specialist Hospital and Research Center (KFSHRC) and Prince Salman Disability Research Center (PSDR). Program ” datasase mainance ” is essential in data reporting, analysis, publications, and management. Ultimately the SNSP has to be transferred to MOH as public health preventive service program. There is a need for of Saudi National Newborn Screening Program that involves government, professionals and consummers to further develop and expand the program.

The diseases can be catogrised as: a) Amino Acids metabolism disorders. B) Organic Acid metabolism disorders. C) Fatty acids Oxidation disorders. D) Hemoglobinopathies. E) Others ( namely, Congenital Hypothyroidism, Hearing loss, Congenital Adrenal Hyperplasia, Galactosemia, and Biotinidase deficiency.

The best to offer a vital national screening service is the Saudi MOH Central Laboratories. Assembly of a (Newbrn Screening Expert Group) from all areas of the K ingdom of Saudi Arabia. Assignment of program development by MOH to athird party with subsequent transfer of program ownership to MOH. (Afifi, 2007).

P.Ozand, Nadia Saghati, and their colleagqes , from King Faisal Specalist Hospital and Researc Center (KFSHRC), Saudi Arabia, reviwed the recently available technique for genetics problems in the Middle East. They published their experience in (KFSHRC) from (1995-2000) in the largest referal hospital in the country, which look for almost all biochemical metabolic and genetics in Saudi Arabia, after reviewing the most common metabolic genetics diseases in the Kingdom, they discussed different recent available tecniques in the Kingdom which could also be applied to other countries in the Middle East. Tese new techniques include: GS/MS, DNA papers for newborn screening, a light cycler or NanoChip system for hetrozygote detection and (PGD) assuming a normal baby in the next pregnancy, DNA Microarrays for karyotyping, and PGD mutation in preventive genetics. Also they mentioned Affymetrix system to study genetic diseases, and the NanoChip system contribution to pharmacogenomics. (PT).

Al-Mendlawi et.al pointed out that, Saudi Arabia is located withen the geographical distribution of SCA genotype that extends throughout the sub-Saharan Africa, Middle East, and part of Indian sub-contenent. The crrier frequency range from ( 5-40% ) or more in the population. Variation may disclose variation in study designs in the same country and in different areas as in Saudi Arabia. Despite that SCA remains a significant health burden in these countries. He urged the need for collaboration among regional countries to focus in reseach and intervention actions. (MD, 2009)

Cystic fibrosis is an inherited Autosomal Recessive disease, characterized by pulmonary disease, pancreatic exocrine insufficiency, meconium illus in the neonatal period, male infertility, and increase in the concentration of sweat electrolytes.

Since the cloning of the cystic fibrosis transmembrane regulator (CFTR) in 1989, more than 750 new mutations have been reported to cystic fibrosis consortium. In Saudi Arabia 1:4,243 children are reported to suffer from CF, however (CFTR) is rare. DF508 which causes (65-85%) of Caucasian population, have been found to be less frequent in Saudi population. The distribution of CF patients in different Saudi regions are as follows: (37%) from Eastern region; (28%) Central; (22%) Western region; (5%) Northern; (8%) Southern region.

Mutation distribution are:

1548 in (2%) of total alleles.

DF508 in (15%)>

3120+IG(R) A (13.5%)

H139L(9%)

N130K(3%)

G115X(3%)

425del42(1.5%)

L1177X(3%)

711+IG®A(3%)

I1234V(18%).

Patients of Arab decent have their own mutations of Cystic Fibrosis, the most common are: 1458delG, and H139L. (H., 1999)

Conclusion

The Kingdom of Saudi Arabia, by it is Budget for heath and huge effort from the government to raise the heath facility standard for their citizens and foreigners living in Saudi Arabia is in the process to develop a national newborn screening programs. Because Saudi Arabia is a large country, this programs should be distributed to the already existing five main areas of Saudi Arabia. The purpose of this paper is to contribute in understanding of the different problems which might face the decision makers in the health system in Saudi Arabia, and to suggest solution to some of the problems, taking in consideration the footsteps of the development of newborn screening program core panel in USA.

References

Bibliography References

Al-Dirbashi, O. Y., Abu-Amero, K. K., Alswaid, A. F., Hoffmann, G. F., Al-Qahtani, K., & Rashed, M. S. (2007). LC-MS/MS determination of dibasic amino acids for the diagnosis of cystinuria. application in a family affected by a novel splice-acceptor site mutation in the SLC7A9 gene. Journal of Inherited Metabolic Disease, 30(4), 611. doi:10.1007/s10545-00


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