When babies are born, heel blood is taken to investigate some congenital hereditary diseases and endocrinological diseases for which early diagnosis is important. In general, positive screening test results for any condition may not necessarily mean that your baby is sick.
Babies with a positive screening test may need further evaluation for the disease after the evaluation of the relevant field specialist.
For babies with a positive screening test, the Child, Adolescent, Women's and Reproductive Health (CECUS) Unit personnel in the province contact the family to get the first appointment and inform.
After the first hospital application, detailed information about the disease can be obtained from physicians in the relevant specialties and experts working in the field of medical genetics, and current approaches and options for treatment and follow-up can be learned.
SMA is an inherited, progressive lower motor neuron disease. When left untreated, weakness, feeding and breathing problems occur as a result of the motor neurons that control the muscle movements of our body are affected in the spinal cord (spinal cord). In the following periods, varying degrees of limitation in joint movements, deformities in the spine, nutrition and respiratory problems may accompany the clinical picture.
On average, one out of every 50 individuals in the community is a carrier for SMA disease. In a situation where both father and mother carry the disease, the probability of developing the disease in each pregnancy is 25%. Although consanguineous marriage increases the incidence of the disease, since the carrier rate is high in the society, babies of unrelated individuals may also be born with this disease. You and your family members should receive genetic counseling.
The baby who has a positive Spinal Muscular Atrophy test as a result of the screening test should be evaluated by a pediatric neurologist immediately.
It is very important to treat a baby born with SMA at the earliest stage, before the baby shows signs and symptoms of the disease. Although the natural course of SMA disease has changed with the treatment options developed in recent years, all studies have indicated the necessity of long-term follow-up and treatment of the diagnosed patients. indicates that the response to treatment shows individual differences.
Response to treatment; Initiation of appropriate treatment for the baby as early as possible determines. This process and long-term follow-up require family and physicians to work in cooperation and harmony.
If you have been diagnosed with SMA by newborn screening, you can contact our foundation and get detailed information.
Within the scope of the Newborn Metabolic and Endocrine Disease Screening Program (NTP), screening of newborns for the diseases determined, preventing mental retardation, brain damage and irreversible damage, initiating appropriate treatment in order to prevent the diseases that may occur due to these diseases in the diagnosed babies, thus ensuring that they reach a certain level of intelligence. It is aimed to increase public awareness about reducing consanguineous marriages and to prevent the economic burden it brings to society.
The Phenylketonuria Screening Program started in 1987 and was expanded to the whole of Turkey in 1993.
The National Neonatal Screening Program added Congenital Hypothyroidism screening to Phenylketonuria screening in 2006, Biotinidase deficiency in 2008, and Cystic Fibrosis screening in 2015. Congenital Adrenal Hyperplasia pilot screening was started in 2017 and expanded to 81 patients in 2022.
Spinal Muscular Atrophy (SMA) has been added to the scanning panel as of 09.05.2022.
Heel bloods to be taken for the Newborn Screening Program in all health units throughout the province are collected at the Provincial Health Directorate and sent to Ankara and Istanbul Screening Laboratories. is directed.
Scientific commissions established for each disease in the screening program support monitoring and evaluation studies.
Thanks to screening studies, approximately 4500 children can be protected annually from the consequences of their existing diseases, and disability is prevented.