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Early Diagnosis Of Defects In Fetus

Unfortunately, not every pregnancy ends with the birth of a healthy child. Poor environment, health problems of parents, genetic factors, late pregnancy are factors that can cause the development of congenital malformations in the fetus.

Early Diagnosis Of Defects In Fetus

Many methods are used to diagnose the diseases during pregnancy:


Screening is a massive study built on the method so-called "screening test" that reveals the risks. This study is carried out for all pregnant women, as the practice has refuted the beleif that, for example, the children with Down syndrome are born by women who are 35 years old and older, as it was previously thought. This pathology is more often diagnosed among children whose mothers are older than 30.

Screening methods for diagnosis include BM (biochemical markers), which are determined in maternal serum and ultrasound procedure to examine the fetus.

  • For the first trimester biochemical markers are HCG and plasma protein A (PAPP-A). This type of screening is held from 8 to 13 weeks of pregnancy.
  • For the second trimester BM are alpha-fetoprotein (AFP), hCG and estriol. The screening is conducted from the sixteenth to the twentieth week of pregnancy.

ACE is the main component of the blood of the fetus, which is produced by its liver. Secreted in the urine, ACE enters the cavity of the ovum, and then enters the mother's blood through its shell. Therefore, to research and determine the level of ACE one needs venous blood of the mother. The increasesment or decreasement in ACE in more than two and a half times may indicate the presence of the disease in the developing fetus.

HCG is a protein which is produced by the shell of the ovum. The presence of hormone can indicate the issues in pregnancy development, including ectopic pregnancy. Number of hCG at different stages is different, its essential deviation from accepted norms may indicate abnormal fetal development.

But we should remember that the evidence of screening may not always indicate the presence of an emerging disease in the fetus. In some cases, the results can be influenced by other factors, such as hormonal or antispasmodic drugs, the presence of multiple pregnancy, some diseases of women, overweight pregnant women and others. more. Therefore, in most cases, screening tests should be supplemented by a more thorough investigation.

  • Who gives direction to parents on biomedical consultation for suspected congenital heart disease of the fetus?

Prenatal diagnosis is carried out during 18-20 weeks of pregnancy in the antenatal clinic. If the doctor suspects any congenital heart disease of the fetus, he or she directs future mother to a specialized cardiac surgery center for more detailed diagnostics.

Vladimir Zhovnir,
Chief Physician of The Ministry of Health of Ukraine, Candidate of Medical Sciences, anesthesiologist

Early prenatal diagnosis of fetal malformations

Early prenatal diagnosis is a double test that it is desirable to take place in the first trimester, as after the detection of a large pathology, it will be appropriate to thermiate the pregnancy on early stages. If the pathology is insignificant, one can pass the second test in the second trimester, which will confirm or refute the presence of pathology.

An important part of early prenatal diagnosis is ultrasound, which allows you to get the most complete and accurate information about the formation and functioning of the vital organs of the fetus.

  • Ultrasonography done during 12-14 weeks of pregnancy to elucidate TVP (nuchal translucency) may indicate the formation of chromosomal defects of the fetus.
  • Ultrasound from 20 to 24 weeks of pregnancy will allows us to determine smaller malformations.

It should be noted that the use of two methods of diagnostic tests in the complex that may provide a more accurate picture of the fetus, which, in turn, makes it possible to conduct timely diagnosis and, if necessary, to send the patient to a medical geneticist, who will decide is futher diagnostic techniques are essential.

Invasive methods of diagnosis of fetal malformations

Invasive diagnostic methods include:

  • Biopsy of chorionic villus sampling is a sampling method from the cell membrane of the ovum, which is carried out at the eleventh-twelfth week of pregnancy.
  • Amniocentesis is conducted for sampling the amniotic fluid, which is carried out by means of a puncture of the abdominal wall and uterus. It can be carried out during 15 or 16 weeks of pregnancy.
  • Placenta biopsy. It implies taking placental cells for research. It can be carried out during the twelfth to the twenty-second week.
  • Cordocentesis is a diagnosis of fetal cord blood, which can be carried out after the twentieth week of pregnancy.

These procedures are carried out only in case of strict conditions, the detection of chromosomal abnormalities. Their results help doctors and parents determine the future tactics.

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