Postpartum Genetic Tests

Genetic Disease Screening in Postpartum Infants

Studies in the field of genetics continue to progress rapidly with innovations every day. In recent years, a success rate of 90% has been achieved in the diagnosis of all diseases by screening 200,000 exomes and 21,000 genes with all exome analysis and whole genome analysis. In addition, by working on the mitochondrial genes that provide the energy of the cell, the diagnosis of diseases has become clearer.

Another innovation is the start of detailed genetic screening in babies between 0-24 months. With Newborn Screening Program conducted across the whole of Turkey by the Ministry of Health, all newborn babies were konjenitalhipotiroi only three major disease, phenylketonuria and biotinidase deficiency in terms of scans are performed. Apart from the tests applied by the Ministry of Health, we recommend the newborn genetic screening test for babies aged 0-24 months, which is related to the most known diseases.

350 million children in the world have different genetic diseases, 80% of them are composed of rare genetic diseases. Thanks to the human genome project and daily new researches, 4300 genetic diseases can now be diagnosed among these diseases. 32% – 57% of newborn babies are affected by genetic diseases, but it is not recognized as there is no apparent significant anomaly.

For example, in some cases, the mother and father are healthy, they do not have any problems, they do not have any knowledge of the family history, they have a healthy child and the tests performed by the Ministry of Health are found to be normal. However, in the future, our child is also worried about a health problem, because some families also see this, the child becomes ill at the age of two or three, can be lost due to rapidly progressing diseases, or he can continue his life with severe mental disability. In order to reduce the likelihood of these samples, it is of great importance to make Postnatal Genetic Screening Tests more widespread and to be performed by the parents.

Which diseases are covered in the Newborn Genetic Screening test.

  • Organic acidemias
  • Fatty acid disorders
  • Amino acid disorders
  • Immunodeficiencies
  • Mucopolisaaccharidoses
  • Glycogen storage diseases

In Which Situations Should Neonatal Screening Tests Be Done?

  • Problems in laboratory parameters:
    a. Hyperbilirubinaemia
    b. Hypoglycemia
    c. Lactic acidosis
  • Skeletal abnormalities:
    a. Recurrent fractures
    b. Microcephaly
  • Neurological abnormalities:
    a. Convulsions
    b. Spasisite
    c. Muscular hypotonia
    d. Dystonias
  • Hematological abnormalities:
    a. Anemia
    b. Immunodeficiency
  • Skin abnormalities:
    a. Ichthyosis
  • Gastrointestinal abnormalities:
    a. Hepatomegaly
    b. Cholelithiasis
    c. Diares
    d. Anal Atresia

In our Center, the Neonatal Screening Panel uses the Next Generation Sequencing Analysis method and a panel called CentoICU, which examines approximately 800 genes. In addition, the diagnosis of newborn patients can be made quickly with methods such as Whole Genome Analysis (WGS) & Whole Exome Analysis (WES).

Patients applying to our center; A detailed report containing detailed clinical information, all previous tests and family tree is prepared, after giving detailed information about the tests, the consent documents are signed, and then all the information is entered into the CENTOPORTAL system by processing the blood samples taken on special cards. The samples taken are shipped to Germany on the same day with special cards.

After the results are obtained, detailed interpretation of the results is made and genetic counseling is given. In addition, after discussing the clinical and molecular aspects of the patient, the patient’s diagnosis becomes clear and the treatment method is determined more clearly by the physician.