Genetic testing of newborns allows time to identify hereditary diseases and to avoid serious consequences.
The screening of newborns for the presence of genetic diseases there are more than 40 years. In 1962, the Director of Diagnostic laboratories, Massachusetts (USA) Robert MacReady, together with the founder of the newborn screening Robert Guthrie organized the collection of special forms of filter paper blood spots from infants in Massachusetts. Thus, the doctors conducted testing for phenylketonuria using a bacterial method for the study of phenylalanine. In the 70-ies was developed by the research method of thyroxine to detect congenital hypothyroidism. And currently there are methods of detection of congenital adrenal hyperplasia, sickle-cell anemia and other diseases, including infectious and congenital abnormalities.
Today medicine known more than five thousand hereditary diseases. Of course, test every baby for all diseases is physically impossible. Moreover, this just is not necessary. For example, the U.S. children taken to check for the presence of 7-8 genetic diseases. As a rule, the health authorities decide about the verification of certain hereditary diseases based on the specific region.
A few years ago to carry out genetic screening of babies has become mandatory in our country. This event is aimed at early detection and treatment of the most serious diseases. For example, in the case of phenylketonuria the baby the blood was taken for study, during which determine, there is no damage to those genes that are responsible for normal processing of the amino acid phenylalanine. If such damage has, that baby as early as possible is transferred to a special meal. The baby will eat a special diet lacking the amino acid phenylalanine.
If this diet does not comply, then the child will experience severe mental disorders. On this diet with phenylketonuria should be about 12 years (sometimes up to 18 years). So children will develop normally and go to regular school.
Readers ‘ questions Good day, dear Dmitry Dmitrievich! Please tell me how I can be 18 October 2013, 17:25 Good day, dear Dmitry Dmitrievich! Please tell me how can I be? The girl 5 years hematuria. Kidney and bladder were examined. All parameters of blood and urine in norm. According to the results of ultrasound – expansion Cup-renal pelvis segment to 10 mm, pyelectasis kidney. Cystitis, reflux, salt is not. Does the treatment of this form of hematuria? Is it possible only on the basis of the deviation to diagnose glomerulonephritis? Whether in this case the kidney biopsy? Is it possible using genetic analysis of parents to establish inheritance of this pathology? (OAM parents and grandparents erythrocytes in norm). Thanks in advance! View answer
The newborn screening
There are circumstances when spouses are recommended to attend genetic counseling.
- In the presence of hereditary diseases in the family, for example, hemophilia, diabetes, muscular dystrophy Duchenne, chorea of Gentingtona and others. At these consultations, the doctors determine whether you are a carrier of the defective gene and can you pass on to your child.
- If you are in akin to marriage (e.g., marriage between cousins or second cousins brothers and sisters). In such cases, the couple shared the great-grandfathers or great-grandfathers. In this case, both the man and the woman can be carriers of recessive defective gene which can be transferred to the child.
- In the presence of mental retardation any of your relatives.
- During pregnancy and in adulthood. According to medical observations, in women after 35 to 38 years, there is a risk of having children with various chromosomal abnormalities, particularly down’s syndrome. The same is true for underage girls.
At present, our country is genetic screening of newborns for a number of diseases.
- Cystic fibrosis is a common hereditary disease characterized by violation of the respiratory function and digestive system. Well-timed treatment helps to avoid serious complications of the disease.
- Phenylketonuria a disease characterized by severe neurological disorders.
- Congenital hypothyroidism congenital deficiency of thyroid hormones. The disease leads to delayed physical and mental development of the child. Timely treatment completely restores the intellectual development of the baby.
- Adrenogenital syndrome a violation, associated with increased secretion of androgens by the adrenal cortex. If left untreated, the children are developing premature sexual development, and in the future develops infertility.
- Galactosemia is a disease in which the consumption of dairy products may lead to the development of severe lesions of the internal organs.
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