98,000 newborns examined in ongoing initiative for early detection of genetic disease

Mohamed Hatem , Sunday 10 Apr 2022

98,000 newborns have been medically examined as part of the presidential initiative for detection of genetic disorders in newly-born infants, a statement by the Ministry of Health and Population said on Sunday.

newborn baby
A file photo of a nurse examining a newborn baby (Photo:Al-Ahram)

The initiative was launched in July 2021 with the goal of producing a healthy generation of children free from the harms caused by disabilities, the ministry said in a statement in February

In the initiative’s first phase, which is still ongoing, newborns are screened for 19 genetic diseases in the health ministry’s hospitals. In the second phase, screening will be expanded to all newborns nationwide, the health ministry’s Spokesperson Hossam Abdel-Ghaffar said.

According to Wael Abdel-Razek, head of the health care and nursing sector, the diseases being screened for include congenital hypothyroidism, congenital adrenal hyperplasia, folic anemia, cystic fibrosis, hereditary hyperlipidemia, phenylketonuria, tetraplegic deficiency Hydropetrin, organic acidity, elevated blood isovaleric acid, elevated blood propionate/methylmalone, maple urine disease, blood tyrosine elevation-type 1, hypergalactosemia, elevated urine homocysteine, elevated blood arginine, elevated blood citrulline, ornithine deficiency Carbamoyl transporter, fatty acid oxidation and biotinidase deficiency.

The screening is carried out by taking a blood sample from the child's heel, and analyzing it at the Egyptian Centre for Diseases and Control (ECDC), Abdel-Razek explained.

The centre houses a laboratory equipped with the latest world-class technology in the field of detecting genetic diseases, Abdel-Razek said, pointing out that if a case tests positive, the child is referred for an additional examination to confirm the authenticity of the results so the child can start receiving the necessary treatment, in line with the protocols set by the initiative.

To date, 25 centers have so far been allocated to treat genetic diseases for newborns, among a larger network of centres currently being expended across all governorates, Director of the Initiative for Early Detection of Genetic Diseases Dina Abdel-Salam said.

These centers will provide free treatment and routine follow-up services for children suffering from any genetic or hereditary diseases, she added.

The initiative will also focus on providing ongoing support and counseling sessions to parents looking to have children to eliminate any actions or behaviors that may contribute to the development of genetic diseases among newborns, she said.

Abdel-Salam noted that ECDC affiliated medical centers are strategically located nationwide and can be found across the following governorates: Cairo, Alexandria, Beheira, Ismailia, Daqahliya, Minya, Menoufiya, Sharqiya, Port Said, Fayoum, Qena, Assiut, Gharbiya, Beni Suef, Giza, Damietta and Aswan.

The centres will also provide free detection and treatment services to all children with metabolic diseases of all age groups and will work on ensuring the provision of the necessary medication and foodstuffs free of charge, she concluded.

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