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KErala<br />

nEwborn sCrEEning ProgrammE<br />

ProblEm statEmEnt<br />

There was no detailed study of inborn error of<br />

metabolism in kerala. C<strong>on</strong>genital Hypothyroidism<br />

was present in the community and it was necessary to<br />

ensure that the excellent work undertaken by the <strong>Health</strong><br />

Services department is in pace with the best internati<strong>on</strong>al<br />

practices for early detecti<strong>on</strong> and interventi<strong>on</strong> of selected<br />

disorders to prevent serious c<strong>on</strong>sequences like mental<br />

retardati<strong>on</strong>.<br />

ProgrammE DEsCriPti<strong>on</strong><br />

newborn screening test aims at the early detecti<strong>on</strong> of<br />

disorders to prevent serious c<strong>on</strong>sequences by timely<br />

interventi<strong>on</strong>s. The current NBS programme of Kerala<br />

provides screening tests for C<strong>on</strong>genital Hypothyroidism,<br />

C<strong>on</strong>genital adrenal Hyperplasia, Phenyl ket<strong>on</strong>uria and<br />

Glucose-6 Phosphate Dehydrogenase deficiency which are<br />

carried out through the four PH labs. (State PH Lab and<br />

three Regi<strong>on</strong>al PH Labs).<br />

ProgrammE outComEs<br />

During the period from March 2013 to Feb 2015, a total of<br />

115279- cases have been screened.<br />

FinanCial invEstmEnt<br />

The required funds are provided through the State plan<br />

as well as nRHM and the programme is implemented<br />

free-of -cost to the beneficiaries.<br />

sCalabilitY<br />

The NBS programme can be implemented in any of the<br />

States after arranging the following facilities:<br />

•<br />

Equipping selected government laboratories for starting<br />

NBS screening tests (equipment, test-kits, reagents, HR<br />

provisi<strong>on</strong> and necessary training should be given).<br />

•<br />

•<br />

•<br />

•<br />

•<br />

•<br />

•<br />

Selecti<strong>on</strong> of delivery-c<strong>on</strong>ducting hospitals for running<br />

the programme.<br />

NBS sample collecti<strong>on</strong> and transportati<strong>on</strong> guidelines<br />

should be given to the hospitals.<br />

Timely dispatch of test results from the laboratory to<br />

c<strong>on</strong>cerned instituti<strong>on</strong>s(by email).<br />

In the sec<strong>on</strong>d phase, the NBS programme may be<br />

extended to all the delivery-c<strong>on</strong>ducting government<br />

Hospitals in Kerala. Screening for C<strong>on</strong>genital<br />

Hypothyroidism and C<strong>on</strong>genital adrenal<br />

Hyperplasia has to be c<strong>on</strong>tinued.<br />

Phenyl ket<strong>on</strong>uria can completely be excluded and<br />

G6PD may also be excluded, since the c<strong>on</strong>sequences<br />

associated with G6PD is less serious when compared<br />

to C<strong>on</strong>genital Hypothyroidism and also c<strong>on</strong>sidering<br />

the financial viability when all the Government<br />

hospitals are included under the programme.<br />

The government may give directi<strong>on</strong> to private<br />

hospitals in the State to screen the babies for at least<br />

C<strong>on</strong>genital Hypothyroidism at their own facility since<br />

there is a high prevalence in the State.<br />

inclusi<strong>on</strong> of any other inborn error of metabolism<br />

screening under the programme can be c<strong>on</strong>sidered<br />

after discussi<strong>on</strong> with the Senior Clinicians.<br />

C<strong>on</strong>Clusi<strong>on</strong>s/lEss<strong>on</strong>s lEarnt<br />

new born screening programme of kerala is <strong>on</strong>e of the<br />

most advanced and successful programmes implemented<br />

in the recent past. This is the first expanded pilot<br />

programme of the State where 44 selected Government<br />

hospitals are included covering all the 14 districts.<br />

Since this report is based <strong>on</strong> the two years of data of New<br />

Born Screening Programme of Kerala, it more or less<br />

gives the actual prevalence of the selected inborn errors of<br />

metabolism:<br />

• The most comm<strong>on</strong> disorder detected through this<br />

programme is C<strong>on</strong>genital Hypothyroidism (67<br />

C<strong>on</strong>firmed cases), that shows a prevalence of <strong>on</strong>e in<br />

1720 cases. all these babies are <strong>on</strong> treatment now.<br />

Early detecti<strong>on</strong> of C<strong>on</strong>genital Hypothyroidism<br />

through NBS programme has helped to prevent<br />

serious c<strong>on</strong>sequences like mental retardati<strong>on</strong> in these<br />

babies.<br />

• There was not a single positive case of Phenyl ket<strong>on</strong>uria<br />

found through the screening.<br />

• Two c<strong>on</strong>firmed cases of C<strong>on</strong>genital Adrenal<br />

Hyperplasia are there, that shows a prevalence of <strong>on</strong>e<br />

in 57634 <strong>on</strong>ly.<br />

• 9 c<strong>on</strong>firmed cases of G6PD Deficiency, which shows a<br />

prevalence of <strong>on</strong>e in 12809 cases.<br />

The selected government hospitals participated in the<br />

programme with varying levels of enthusiasm with<br />

major delivery-c<strong>on</strong>ducting hospitals being more<br />

enthusiastic.<br />

rEFErEnCE<br />

New Born Screening in India, NHS Programme in UK.<br />

126 | Making a Difference : good, Replicable and innovative Practices

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