Objectives

Primary Objective :

• To evaluate the feasibility of a newborn screening for the different geo-ethnic regions of the Indian Population & attempt to define the incidence of the selected inborn metabolic errors i.e., CH and CAH in our population

Secondary Objectives :

• To enhance the knowledge, attitudes and practices of the affected families regarding the genetic disorder & to impart genetic counseling when feasible.


• To impart training in this specialty to health care providers at various levels


• To calculate the turnover reporting time, percentage births covered, time for final diagnosis and appropriateness of drawn follow up and management guidelines.


• To study and make comparisons between the urban-rural population and also within the different regions of the country.


• To incorporate the knowledge acquired in the regular teaching programs in respective centers

Tertiary Objectives :

End Point of the study: To Evaluate Post Study benefits

• Evaluate the impact of the program in terms of quality of care provided


• To identify Cost-Benefit analysis of such a program on the Health economics

Outcome Measures

1. Feasibility criteria : Once a week audit of

• To evaluate the feasibility of a newborn screening for the different geo-ethnic regions of the Indian Population & attempt to define the incidence of the selected inborn metabolic errors i.e., CH and CAH in our population


• To evaluate the feasibility of a newborn screening for the different geo-ethnic regions of the Indian Population & attempt to define the incidence of the selected inborn metabolic errors i.e., CH and CAH in our population

2. Acceptance Criteria :

• No of samples discarded due to refusal of consent or blood transfusion to be recorded at the collaborating centers and sent weekly to the technical centers.

3. Lab acceptance Criteria

• Number of samples not layered or collected properly to be recorded by the technical centers and informed the same day to the collaborating centre to decipher whether a repeat sample is feasible

4. Drop Out Rate :

• Number of patients who could not be traced or did not turn up for a repeat sample

5. Turnaround Time :

• Time for positive samples to be reported to the patient and referring hospital.

6. Recall Rate :

• Total number of babies called for re-testing

7. Follow-up Rate :

• Total number of babies who complete the stipulated endpoint at 5 years for biochemical and clinical follow up

7. Cost Benefit Analysis will be calculated after the screening phase of study is over Annexure XII & XIII shows annual report form, to be submitted

Metholodogy

Study design : PROSPECTIVE Place of Study : This will be a multicentric study involving the following: The study will be carried out in a representative population at the 6 centers. Sample Collection Centres (RSC) (SCC)

Sample Size :

Each site will be responsible for enrolling a total of 20,000 patients for the study from each center in 2 years period to have a total of 1 lakh babies for neonatal screening in the country.

Ethical review :

An Institutional Ethics Committee approval has been obtained by all participating institutions locally. The selected centers will receive and process filter paper dried blood spots submitted by hospitals, birth centers, physicians, clinics and local health officials. The processing includes entering and maintaining demographic data and screening data from the submitted filter paper specimens.

Study Population :

All newborn infants taking birth in the collaborating hospitals with Gestational age more than or equal to 34 weeks. The gestational age will be based on last menstrual period. If the LMP dates are not known Ballard's criteria should be used for accessing the gestational age (Annexure II).

Informed consent (Annexure I)

Parents of neonates eligible for the trial will be asked for a written consent form detailed in English, Hindi & respective regional language declaring their willingness to participate in the trial. If the consent is refused, the neonate will be excluded and the cause of exclusion recorded. Sample should not be collected if the parents do not give consent for sampling. However all efforts should be made to convince the parents about the importance of screening. Help of the attending doctor or nurse may be sought. Consent has to be taken by the social worker/nurse/Doctor. Inclusion criteria : All newborns with gestational age of 34 weeks or more delivered in the above mentioned centers will be enrolled in the study. Sample will be collected after 48 hours till 7 days of age.

Exclusion criteria :

• To enhance the knowledge, attitudes and practices of the affected families regarding the genetic disorder & to impart genetic counseling when feasible.
• To impart training in this specialty to health care providers at various levels
• To calculate the turnover reporting time, percentage births covered, time for final diagnosis and appropriateness of drawn follow up and management guidelines.

Organizing the Program :

Each center will have their own work plan to make the program successful. The following strategy may be useful for good advocacy and coverage. One of the team members (Doctor/Nurse) should collect the number of deliveries every morning. He /She should also check that where the mothers and babies have been transferred. It may be better to maintain a register so that all mothers /babies can be easily tracked. The register data should include mother's and father's name, address, phone number, baby registration number, date and time of birth, date and time of sampling , consent status, sample could be collected or not, date and time of receipt of sample in lab and adequacy of sample, screening report and follow up. On the first day after the birth of the baby (if the baby is stable and well) information broachars should reach the family and the social worker should have a brief discussion about the program. Parents should be given time to read all the information and approached again after two days and sampling should be done if consent is given.

Time/Age of Sampling :

Preferred age is after 48 hours till 7days of age but definitely not less than 24 hours. Blood will be collected from heel punctures by using single-use lancing devices. The aim is to collect samples from all babies before discharge.

Mandatory second sample is to be taken in follwing groups of babies :

LBW babies

• babies in whom samples has been collected before 24 hrs of age
• twins
• Babies with gross congenital malformations
• Babies whose mother has received corticosteroids within 48 hours before birth.

Data Collection :

Data will be collected in a pre designed Newborn screening card (Annexure III) . Data will be entered individually at all centers every day in a pre designed program. The first copy of the card will be retained by the collecting center and two other copies will be sent to the data coordinating center every 15 days. The data coordinating center will be sending the soft data and cards to the ICMR once every month. The collecting centers will also send a biweekly report to the data coordinating center along with the cards and soft data. The format of the biweekly report is shown in Annexure IV.