Clinicians today are actively using various methods for the early diagnosis of inherited diseases. These include prenatal biochemical screening and non-invasive techniques for the fetus, as well as neonatal screening for newborns.

Unlike congenital diseases, hereditary diseases result from genetic disorders. Sometimes the disease manifests itself after some time and under certain factors that are triggering for its development. In other cases, babies are already born sick.

Early diagnosis allows you to accurately diagnose, make a decision to maintain a pregnancy, or prepare for long-term treatment of the child.

 Prenatal screening for inherited diseases

Many chromosomal and gene disorders are fraught with congenital pathologies for the fetus, including those incompatible with life. For example, babies with Edwards and Patau syndromes often die and do not live to see a year. No medical measures, medicines and methods help to prolong their existence. The cause of these syndromes is trisomy , when instead of the put two copies, as a result of genetic disorders, three copies of a certain pair of chromosomes are formed. In Edwards syndrome, tripling occurs on the 18th chromosome, and in Patau syndrome on the 13th chromosome.

But with Down syndrome ( trisomy on the 21st chromosome), which is quite common – one child per 800 births, survival is higher (on average, such people live up to 36 years). With timely regular psychophysiological correction and care, the children are completely socialized and can find their place in society.

In order to diagnose Down, Patau , Edwards syndromes and numerical sex chromosome abnormalities, which are more susceptible to fetus in women of late reproductive age, CITILAB conducts prenatal biochemical screening, as well as new unique non-invasive DNA tests PrenaTest ®. 

Neonatal screening for newborns

This type of screening is mandatory for all newborns and is necessary to detect hereditary diseases such as phenylketonuria , cystic fibrosis , congenital hypothyroidism, adrenogenital syndrome, galactosemia . Blood for research is taken from the newborn on 4-7 days after birth. After identifying violations (markers of the disease), parents receive a referral to a narrow specialist for further consultation.

Phenylketonuria The reason is a violation of the metabolism of amino acids, primarily phenylalanine . Causes damage to the central nervous system, which leads to mental retardation of the child. The treatment is based on a lifelong low-protein diet with the exception of a number of products containing the phenylalanine amino acid (meat, fish, eggs, cheese, etc.). 

Cystic fibrosis Causes damage to the respiratory system, pancreas. Symptoms are not detected immediately, but some time after birth. The disease provokes chronic bronchitis, recurrent pancreatitis, respiratory failure and, as a result, a lag in the physical development of the child. It is treated symptomatically, a diet with a sufficient amount of protein also plays an important role. 

Congenital hypothyroidism. Often recorded in girls, manifests itself immediately after birth in the form of full or partial thyroid dysfunction. This leads to inhibition of all physiological processes in the body. Treatment begins at birth and lasts a lifetime (taking L-thyroxine). 

Galactosemia The lack of enzymes involved in the metabolism of galactose (simple sugar) leads to pathologies of the gastrointestinal tract, the nervous system of young children. It is assumed that such a child will follow a rather strict special diet for life. 

Early diagnosis of the above diseases allows you to identify the problem in the first days of the baby’s life. This allows you to timely start the necessary treatment and prevention program, which significantly improve the quality of life of the child.

Leave a Reply

Your email address will not be published. Required fields are marked *