Inherited genetic diseases in newborns could prove to be a major cause of worry for parents. Ideally, parents would be keen on an early detection of genetic diseases in newborns so that suitable treatment can be administered right from the outset. As a result, several screening procedures have been developed which help in detecting the presence of genetic problems in babies, as soon as they are born, or sometimes even prior to that.
[Read: Causes of Birth Defects]
The screening process or tests can be categorised into three important groups. The first one is associated with genetic abnormalities amounting to family history, the second one detects those associated with the ethnic group to which the family belongs and lastly, the third one deduces the presence of random indicators which might signal the onset of critical illnesses in the future.
Genetic Diseases—Classifications as Per Screenings
- Diseases Resulting from Family History: In case certain diseases run in the immediate families of the parents, medical professionals might ask for screenings for effective detection. There could be instances where the screening would be done for the unborn foetus. Some of the most common genetic diseases which could occur as a result of direct family history includes fragile X syndrome, muscular dystrophy, Duchenne muscular dystrophy, cystic fibrosis and several other chromosome related disorders. Amongst these, cystic fibrosis is considered to be a commonplace genetic disease in newborns. Therefore, it now figures in the list of standard diseases to be screened and has been included by various nations in their screening panel for newborns.
[Read: Treatments of Birth Defects]
- Diseases Resulting from Ethnicity: Most often diseases which are prevalent in ethnic groups to which the family belongs, may also affect the newborn. In such cases too, the parents may request a screening test and these may be conducted at birth or even during the pre-birth stages. Some of the most common diseases which can which can be affected by ethnicity include congenital adrenal hyperplasia (CAH), thalassemia, cystic fibrosis, Tay Sachs disease and sickle cell anaemia. The American College of Medical Genetics has suggested a common screening for Sickle Cell Anaemia in all newborns. Cystic fibrosis and CAH are also common and included in the routine screening process in certain cases.
- Potential Risk: In certain cases, parents might also seek a DNA test for diseases which might emerge as a potential risk in the future. They look for early symptoms in order to launch preventive measures for ensuring effective treatment later in life. Some of the most common diseases in this category would include Huntington Disease, certain specific forms of breast, colon and ovarian cancer, and type 1 diabetes.
In certain isolated cases, both or a single parent might be tested during the course of pregnancy to detect if they carry a particular disease. Foetal fluid is also extracted in certain cases for accurate testing. Screening processes for detecting genetic diseases in newborns should be encouraged. In case your little one is carrying a life threatening strain of any disease, early detection will always make recovery much simpler.
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