Prenatal diagnosis

Blood test for galactosemia

Galactosemia is caused by a deficiency of galactose-1-phosphate uridyltransferase (classical galactosemia) or, less commonly, galactokinase or galactose epimerase.

Blood test for phenylketonemia

Phenylalanine metabolism disorder is a very common congenital metabolic disorder. Due to a defect in the phenylalanine hydroxylase gene (PHA gene), enzyme deficiency develops, and as a consequence, a block occurs in the normal conversion of phenylalanine to the amino acid tyrosine.

Immunoreactive trypsin in blood in newborns (test for congenital cystic fibrosis)

Cystic fibrosis (mucoviscidosis) is a fairly common disease. Mucoviscidosis is inherited in an autosomal recessive manner and is found in 1 in 1,500-2,500 newborns. Due to early diagnosis and effective treatment, the disease is no longer considered to be limited to childhood and adolescence.

17α-hydroxyprogesterone in blood in newborns (test for congenital adrenogenital syndrome)

17-hydroxyprogesterone serves as a substrate for the synthesis of cortisol in the adrenal cortex. In congenital hyperplasia of the adrenal cortex or adrenogenital syndrome, as a result of mutations in the genes responsible for the synthesis of various enzymes of certain stages of steroidogenesis, the content of 17-hydroxyprogesterone in the blood of the fetus, amniotic fluid and the blood of the pregnant woman increases.

Thyroid hormone in the blood of newborns (test for congenital hypothyroidism)

Congenital hypothyroidism can be caused by aplasia or hypoplasia of the thyroid gland in newborns, a deficiency of enzymes involved in the biosynthesis of thyroid hormones, as well as a deficiency or excess of iodine during intrauterine development.

Free estriol in serum

Estriol is the main steroid hormone synthesized by the placenta. In the first stage of synthesis, which occurs in the embryo, cholesterol, formed de novo or coming from the blood of the pregnant woman, is converted to pregnenolone, which is sulfated by the adrenal cortex of the fetus into DHEAS, then converted in the liver of the fetus into α-hydroxy-DHEAS, and then into estriol in the placenta.

Chorionic gonadotropin in the blood

Elevated levels of human chorionic gonadotropin in the blood serum are detected as early as the 8th-9th day after conception. During the first trimester of pregnancy, the concentration of human chorionic gonadotropin rapidly increases, doubling every 2-3 days.

Free beta-subunit of chorionic gonadotropin

Human chorionic gonadotropin is a glycoprotein with a molecular weight of approximately 46,000, consisting of two subunits, alpha and beta. The protein is secreted by trophoblast cells.

Pregnancy Associated Protein A (PAPP-A)

During normal pregnancy, the PAPP-A concentration in the blood serum increases significantly starting from the 7th week. The increase in PAPP-A concentration occurs exponentially at the beginning of pregnancy, then slows down and continues until delivery.

Prenatal diagnosis of congenital diseases

Prenatal diagnostics is the most effective method of preventing congenital diseases. In many cases, it allows us to clearly resolve the issue of possible damage to the fetus and subsequent termination of pregnancy.