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Prenatal diagnosis

Blood test for galactosemia

Galactosemia is based on the inadequacy of galactose-1-phosphate uridyltransferase (classical galactosemia) or, more rarely, galactokinase or galactose-epimerase.

Blood test for phenylketonemia

Disturbance of the metabolism of phenylalanine refers to a very common congenital metabolic disorder. Due to the defect of the phenylalanine hydroxylase gene (phage gene), the enzyme deficiency develops, and as a result, the block enters the normal conversion of phenylalanine to the amino acid tyrosine.

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

Cystic fibrosis (cystic fibrosis) is a fairly common disease. Cystic fibrosis is inherited by autosomal recessive type, it is detected in 1 of 1500-2500 newborns. Due to early diagnosis and effective treatment, the disease is no longer considered to be inherent only in childhood and adolescence.

17α-Hydroxyprogesterone in the blood of newborns (test for congenital adrenogenital syndrome)

17-Hydroxyprogesterone serves as a substrate for the synthesis of cortisol in the adrenal cortex. With 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 fetus, amniotic fluid and blood of the pregnant woman increases.

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

Congenital hypothyroidism may be due to aplasia or hypoplasia of the thyroid gland in newborns, a deficiency of enzymes involved in the biosynthesis of thyroid hormones, and a deficiency or excess of iodine during intrauterine development.

Free estriol in serum

Estriol - the main steroid hormone, synthesized by the placenta. In the first stage of the synthesis, which takes place in the embryo, the cholesterol produced de novo or coming from the pregnant woman's blood turns into pregnenolone, which is sulphated by the adrenal cortex of the fetus in DHEA, then fetal liver turns into α-hydroxy-DHEAS, and then into estriol in placenta.

Alpha-fetoprotein in the blood

In the second trimester of pregnancy, if the fetus has Down syndrome, the concentration of alpha-fetoprotein in the serum of the pregnant woman is lowered, and the concentration of chorionic gonadotropin is increased.

Chorionic gonadotropin in the blood

Elevated levels of chorionic gonadotropin in the serum are detected already on the 8th-9th day after conception. During the first trimester of pregnancy, the concentration of the chorionic gonadotropin rapidly rises, doubling every 2-3 days.

Free beta subunit of the chorionic gonadotropin

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.

Protein A-Related Protein A (PAPP-A)

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