What does the analysis of cordocentesis show? Cordocentesis - the concept of the method, the main questions about the conduct and possible risks Analysis of the umbilical cord for down syndrome.

Increasingly, on women's forums, anxious questions from future mothers are heard about whether to decide to do cordocentesis and what consequences it can have for both the child and the woman herself.

The procedure is a laboratory test of fetal cord blood taken with a needle that is inserted through the abdominal wall and then into the uterus. So that fears and doubts do not torment, you need to find out the maximum information about cordocentesis.

Let's see why this procedure is needed and to whom it is most often prescribed?

The indications are:

  • suspected chromosomal abnormalities identified as a result;
  • detection of markers of chromosomal abnormalities that can be detected by ultrasound (short femur or nasal bone hypoplasia);
  • the age of the pregnant woman is over 35 years old with questionable results of a triple test or ultrasound;
  • hereditary diseases of parents;
  • if the family already has children with some genetic pathologies;
  • Rhesus-conflict pregnancy.

Cordocentesis 100% confirms or excludes terrible genetic diseases:

  • Down syndrome;
  • Edwards syndrome;
  • hemophilia;
  • phenylketonuria;
  • Duchenne muscular dystrophy;
  • cystic fibrosis.

If the pregnancy is Rh-conflict, cordocentesis determines the severity, the presence of the fetus. The results of cordocentesis are not affected by medication, the emotional state of the woman, or her chronic diseases.

If you know for sure that under no circumstances will you terminate the pregnancy, you can not do cordocentesis. If you want to know exactly how healthy your baby is, it is better to go through this procedure.

Contraindications for cordocentesis

In some cases, even if genetic diseases are suspected, cordocentesis cannot be done. Contraindications for this procedure are the following conditions of a pregnant woman:

  • acute infectious disease;
  • feverish state;
  • symptoms of threatened miscarriage;
  • the presence of large uterine fibroids at the puncture site;
  • isthmic-cervical insufficiency (that is, insolvency of the cervix).

In the presence of these deviations, despite all your desire, cordocentesis will not be done in order to avoid possible complications.

When is cordocentesis performed?

As a rule, the cordocentesis procedure is prescribed only after the eighteenth week of pregnancy. Doctors call the period from 22 to 25 weeks the most optimal time for taking an analysis. It is by this time that the doctor observing you will be able to view the results of the ultrasound of the second trimester, which will help him decide how much the appointment of cordocentesis is necessary.

Possible consequences after cordocentesis

The risk of complications after cordocentesis is minimal. In rare cases, if contraindications are not observed, the following consequences occur:

  • miscarriage (5% of cases) and (2% of cases);
  • small hematomas at the puncture site, which soon resolve;
  • bleeding at the puncture site, which quickly passes;
  • infections (2% of cases);
  • bradycardia, which also does not require intervention and soon passes.

Most pregnant women are afraid of cordocentesis, talking about the possible negative consequences of the procedure. In fact, they are told by a subconscious fear of learning about possible pathologies of the fetus.

The main thing is to calm down and think that cordocentesis provides you with useful information with which you can protect the health of your unborn child and take all necessary measures for this even before his birth.

Cordocentesis is one of the invasive methods of prenatal diagnosis, based on taking fetal cord blood for analysis. It does not apply to routine and screening studies and is carried out according to strict indications only after obtaining the written informed consent of the woman.

Properly performed cordocentesis allows diagnosing chromosomal, genetic and dysmetabolic diseases in the fetus with a very high degree of certainty.

The essence of the method

Cordocentesis is a puncture of the umbilical cord vessels performed by a doctor through the anterior abdominal wall of a pregnant woman under ultrasound control. The purpose of this procedure is to obtain fetal blood, which is sent to a genetic and, if necessary, biochemical laboratory for analysis. In most cases, 1 ml of blood is enough for the analysis, but if necessary, the doctor can take up to 5 ml.

The study does not require general anesthesia, many patients do without even local anesthesia. Monitoring the condition of the fetus during and after the puncture is also carried out mainly with the help of ultrasound. When carrying out the procedure for a period of 26 weeks of gestation, CTG can be additionally used.

After completing the basic manipulations, the patient should be under the supervision of a doctor for 24 hours and observe bed (or at least half-bed) rest. Therefore, one to two days of hospitalization is usually recommended. With the development of complications and undesirable consequences, it can be extended for the period necessary to eliminate the risks for the mother and fetus and correct the diagnosed pathological conditions.

If the patient refuses such hospitalization, cordocentesis can be performed in a day hospital. But this is an undesirable option, since a short stay of a woman under the supervision of a doctor creates the possibility of untimely diagnosis of complications.

Puncture sampling of umbilical cord blood of the fetus can only be carried out in a licensed medical institution by a doctor who has the appropriate certificates. The experience and high qualification of the specialist, a good degree of ultrasound imaging and the provision of the necessary conditions at the stage of transporting blood to the laboratory are the main conditions for obtaining reliable results with minimizing risks.

Indications for cordocentesis

The main indications for the procedure are unfavorable or doubtful results of screening studies. These include deviations in the biochemical analysis of blood and the identification of ultrasound markers of possible chromosomal abnormalities (insufficient length of the nasal bone and an increase in the thickness of the nuchal space in the fetus). After receiving such results, the obstetrician-gynecologist directs the woman for a consultation with a geneticist and subsequently to an expert commission. Their conclusion will be the basis for resolving the issue of the need for cordocentesis.

An indication for such a study may also be high risks of developing genetically determined diseases in a child. This is determined by burdened heredity on the maternal or paternal side, the presence in the family of an older child with a certain pathology.

A complicated obstetric history is also important in a woman with a history of stillbirth, the birth of non-viable children with defects and severe dysmetabolic diseases, habitual, repeated missed pregnancies. If at the same time a post-mortem genetic examination was carried out, the obtained umbilical cord blood must be examined for previously identified genetic abnormalities.

Diagnostic capabilities of the method

Cordocentesis during pregnancy allows you to confirm or exclude the presence of many serious diseases and conditions in the fetus with a high degree of certainty. These include:

  • Pathologies associated with quantitative chromosomal abnormalities. In this case, doubling or even tripling of somatic or sex chromosomes or their absence is noted. The most common chromosomal abnormalities are Down syndrome (trisomy 21), Edwards syndrome (trisomy 18), Patau syndrome (trisomy 13), Klinefelter syndrome (duplication of the X chromosome in males), polysomy X chromosome in females and Shereshevsky-Turner syndrome (lack of one X chromosome in females).
  • Severe hereditary diseases not caused by chromosomal abnormalities. Currently, there are more than 6 thousand of them, and about 1000 of these pathological conditions are amenable to reliable prenatal diagnosis. These include, for example, phenylketonuria, cystic fibrosis, Duchenne hereditary muscular dystrophy, hemophilia, thalassemia, chronic granulomatosis.
  • , which is most often caused by an immunological conflict between a woman and a fetus according to the Rh factor or blood group. To assess the severity of the resulting hemolytic anemia, hematocrit and hemoglobin levels are determined. The severity of secondary bilirubinemia is also assessed, the child's blood group and its Rh factor are determined.
  • Hereditary blood diseases, manifested by coagulopathy, thrombocytopenia, hemoglobinopathies.
  • intrauterine infections.

The diagnostic capabilities of cordocentesis are quite high. But we should not forget that there are a large number of diseases that this study does not allow to diagnose. Therefore, a favorable result of the analysis of the received umbilical cord blood does not give a 100% guarantee of the birth of an absolutely healthy child. It only means that the fetus does not have certain anomalies.

Additional features of cordocentesis

Cordocentesis is primarily a diagnostic procedure. But sometimes it is used not only to obtain cord blood for analysis, but for treatment - fetotherapy. This is possible if the study is carried out to clarify the severity of hemolytic disease in the fetus or if there are signs of intrauterine infection.

In these cases, the puncture provides the doctor with the opportunity to introduce the necessary medicinal substances directly into the vessels of the umbilical cord, from where the blood enters the general circulation of the child. Blood transfusion is also possible. Carrying out such medical manipulations requires obtaining a separate written consent of the woman, in addition to the already signed consent for cordocentesis. It is also possible to list these procedures in a general patient informed consent form.

Contraindications

The main contraindications are:

  1. An acute period of any infectious disease in a woman or an exacerbation of her chronic infectious and inflammatory diseases of any localization. A significant and inexplicable rise in body temperature also requires a temporary cancellation of the study to determine the cause of hyperthermia and conduct appropriate treatment.
  2. Infectious lesions of the skin and subcutaneous tissue of the anterior abdominal wall, widespread dermatitis with the capture of the site of the planned puncture.
  3. The state of the threat of termination of the current pregnancy. This may be evidenced by bloody discharge from the genital tract, cramping or pulling pains in the lower abdomen, ultrasound signs of a pathologically beginning or smoothing of the internal pharynx of the cervix.
  4. Diagnosed isthmic-cervical insufficiency.
  5. Complete placenta previa.
  6. The presence of large and / or multiple.
  7. Significant decompensation of chronic diseases (cardiovascular, endocrine, neurological) in a pregnant woman.

To exclude the main contraindications, it is sufficient to undergo a basic examination on an outpatient basis, an examination by an obstetrician-gynecologist and a control ultrasound of the pelvic organs, fetus and umbilical cord vessels on the day of the procedure.

The presence of threats of miscarriage, spontaneous abortions and a history is not a contraindication for cordocentesis if the patient does not have clinically significant gynecological and obstetric pathology at the time of the study. However, in such a situation, the decision on the advisability and possibility of puncture is made individually, taking into account the risks and potential benefits.

How to prepare for cordocentesis

Preparation does not require a pregnant woman to comply with a special regimen, diet, refusal of medications taken and preliminary hospitalization. She only needs to undergo a basic examination, which includes general clinical blood and urine tests, tests to rule out major infections (syphilis, hepatitis B and C, HIV), a gynecological examination and a smear for the vaginal microflora (degree of purity).

On the day of the procedure, a woman is hospitalized in a round-the-clock or day hospital. She has an extended ultrasound. Its tasks are to assess the condition of the uterus and fetus, the position and structure of the placenta and umbilical cord, the number and functional usefulness of the umbilical vessels. Also determine the amount of amniotic fluid. All this allows the doctor to choose the optimal puncture site.

With pronounced affective reactions of a woman, she may be prescribed premedication - taking sedative drugs that are allowed at a given gestational age. This may also be required when the placenta is located on the back of the uterus, which usually significantly lengthens the duration of the procedure.

Dates

Although the umbilical cord is already formed from the 2nd month of pregnancy, the study is prescribed only after the 18th week of gestation. And the optimal timing for cordocentesis in the Russian Federation, according to the current order of the Ministry of Health of the Russian Federation No. 457, is between 21 and 25 weeks.

This is due to the fact that only by this time the size of the umbilical cord vessels and the volume of blood flow in them become sufficient for the safe collection of the required amount of blood. In addition, by this time, a pregnant woman usually already undergoes the 2nd prenatal screening, which refines the data of a comprehensive study at the end of the first trimester.

Methodology

Cordocentesis is performed transabdominally (through the anterior abdominal wall). The area of ​​the anterior abdominal wall selected for puncture is treated with an antiseptic, if necessary, infiltration anesthesia of the skin and underlying fatty tissue is performed. After that, the doctor, under ultrasound control, pierces the skin, all underlying tissues, the wall of the uterus and fetal membranes with a thin hollow needle with a mandrin. Does it hurt? The majority of women describe the sensations they experience as quite tolerable. The greatest discomfort is usually caused by a skin puncture, which can be neutralized by the action of an anesthetic.

Subsequent tactics depend on the chosen scope of the study. It is possible to carry out one- and two-needle cordocentesis. The first option is the simplest, while the umbilical cord vein is punctured with the same puncture needle. With the two-needle technique, a sample of amniotic fluid is first taken. After that, another, smaller diameter is inserted into the lumen of the needle. She and produce a puncture of the vessel.

Difficult for the doctor is the situation when the placenta is located on the anterior surface of the uterus. In this case, it can be difficult to choose a puncture site. But if necessary, it is permissible to carry out a puncture through the thin edge of the placenta with a minimum number of villi. In any case, they try to puncture the free loop 3-5 cm above the place where the umbilical cord passes into the placenta.

Blood sampling is carried out in a pre-heparinized syringe to prevent its coagulation before analysis. The lumen of the needle is closed with a mandrin, it is carefully removed. The puncture site on the abdomen is re-treated with an antiseptic and closed with a self-adhesive bandage. No sutures are required.

During the procedure and after it, the functional state of the fetus is monitored with an assessment of its motor activity and calculation of heart rate.

Cordocentesis can be performed by one doctor or two specialists, one of whom is responsible for ultrasound imaging, and the other for puncture. Currently, a specially designed puncture adapter is produced, coupled with an abdominal ultrasound sensor. Specially coated needles are also available to enhance their ultrasound imaging. But not all medical institutions have them in their arsenal, using standard puncture needles of different diameters.

The collected cord blood is sent to the laboratory. The result of the analysis usually comes within 3-10 days. Upon receipt of adverse data, the woman decides whether she will continue the pregnancy or agree to terminate it for medical reasons.

Complications

Cordocentesis refers to surgical procedures. And there is a risk of complications during the puncture and in the early postoperative period.

Most likely side effects:

  • Bleeding from the puncture site of the umbilical cord. In most cases, it is short-lived and stops on its own within 1-2 minutes. The likelihood of bleeding increases with puncture of the umbilical artery and the use of large diameter puncture needles.
  • The occurrence of a hematoma in the umbilical cord puncture area. Small and not tending to increase hemorrhages usually do not adversely affect the condition and further development of the fetus and do not disrupt the functioning of the umbilical vessels.
  • Transplacental fetal and maternal bleeding. This is accompanied by the entry into the bloodstream of the pregnant blood of the fetus, which is fraught with the development of an iatrogenic Rh conflict. Such bleeding is determined by the increase in the concentration of α-fetoprotein in the woman's blood, exceeding more than 50% of the initial (before puncture) level.
  • A sharp deterioration in the functional state of the fetus. Bradycardia is a key sign of this frequently occurring complication. Its development is explained by the activation of the vasogastric reflex, leading to a local spasm of the punctured vessel. Bradycardia is a sign of developing transient fetal hypoxia as a result. In the absence of previous placental insufficiency, this usually does not lead to clinically significant consequences. But in the presence of chronic additional oxygen starvation is fraught with the development of more severe complications.
  • The threat of termination of pregnancy, due mainly to irregular contractile activity of the uterus. It is noted in about 6-8% of cases, and in 2-5% it ends in spontaneous abortion or premature birth. Within 2 weeks after cordocentesis, a woman is classified as a high-risk group for miscarriage. She is under the dynamic supervision of an obstetrician-gynecologist with mandatory monitoring of the functional state of the fetus.
  • Infectious-inflammatory complications, the most likely of which is. For its prevention, a course of antibiotic therapy is prescribed using drugs approved during pregnancy.

The stay of a pregnant woman after cordocentesis in a hospital under dynamic supervision is the basis for the timely diagnosis of developing complications. To monitor the condition of the fetus and uterus, ultrasound and CTG are used, as well as data from a general obstetric examination. The condition of a woman, if necessary, is assessed using emergency general clinical tests.

Possible consequences for the child

The most severe consequence of cordocentesis is abortion. The shorter the gestational age at the time of the study, the more likely the death of the child. From the 26th week of pregnancy, the newborn will be deeply premature, but at the same time it can be recognized as conditionally viable. In this case, it is possible to nurse him.

Another rather serious consequence of cordocentesis is the development of hemolytic disease of the fetus. Its cause is the sensitization of a pregnant woman by erythrocyte erythrocytes of the child she is carrying. The risk of such a pronounced disruption of the hematoplacental barrier significantly increases with transplacental access and the already existing Rh conflict. As a result, antibodies begin to be produced in the woman's body, which lead to the destruction of the erythrocytes of the fetus. He develops hemolytic anemia (alloimmune erythrocytopenia) with hyperbilirubinemia, hypoxic and toxic lesions of the brain and internal organs.

Diagnosed in 5-12% of cases, the deterioration in the functional state of the fetus with bradycardia less than 100 beats / min is reversible and usually does not require specialized treatment. But if these disorders persist for several hours, drug therapy is prescribed in accordance with the principles of treatment of placental insufficiency and fetal hypoxia.

Risks for a woman

Transabdominal cordocentesis in the vast majority of cases is not associated with a threat to the life of a woman and does not cause her severe physical discomfort.

Possible consequences of the study in pregnant women include:

  • The appearance of small hematomas at the puncture site of the anterior abdominal wall, which does not require any treatment.
  • Sensitization of a pregnant woman by fetal erythrocyte antigens according to the Rh or AB0 system. For a woman, this is not dangerous, but subsequent pregnancies in her at the same time can proceed with an Rhesus conflict.
  • Infection of the membranes and the development of chorioamnionitis. With untimely diagnosis and inadequate treatment, it is possible to involve the endometrium in the infectious and inflammatory process. And in the postpartum period, this is fraught with postpartum hypotonic bleeding.

Puncture of the umbilical cord vessels is potentially more dangerous for the fetus than for a pregnant woman.

Method validity

The reliability of the result largely depends on the correct puncture technique, because for analysis it is necessary to obtain only cord blood, without maternal admixture. In this case, the accuracy of the analysis will be 99%. At the same time, in the direction for the study, it is necessary to indicate which disease requires exclusion. Determination of the chromosome set is a basic study.

If during cordocentesis the blood of the mother and child is mixed, the accuracy of the analysis is significantly reduced. This process is called contamination. Its risk increases when blood is taken from the root of the umbilical cord (where it passes into the placenta). Contamination is the main cause of false negative results. But the intake of any drugs by a woman and the presence of various diseases in her do not affect the reliability of the analysis.

Contamination during cordocentesis is detected using special tests. Modern analyzers are able to evaluate the purity of the blood obtained by puncture. In addition, a special test is used to determine its origin, based on a change in the color of the added reagent. The baby's blood gives a pink tint, and the mother's - olive.

Erroneous results are possible if the analysis technique is not followed and poor-quality reagents are used, which is very unlikely. A more accurate and reliable differential test is electrophoresis, but not all laboratories are able to use this method.

Cordocentesis is not the only invasive method of prenatal examination that provides highly reliable results. But it allows you to directly analyze the blood of the fetus, which significantly expands the range of diagnostic possibilities available to the doctor.

At the same time, the likelihood of developing severe consequences for the fetus requires a doctor to carefully analyze the feasibility of prescribing this study. At the same time, he may be faced with the question of whether to carry out cordocentesis or. But in any case, the final decision on the use of any invasive techniques remains with the pregnant woman.

Cordocentesis is a method of perinatal invasive fetal diagnosis, which helps to identify the presence of genetic diseases in the fetus. This procedure is on a par with and. In fact, cordocentesis is a type of surgical intervention during which cord blood is taken for further analysis. The procedure is not prescribed for every pregnant woman, since it has quite a few contraindications and dangerous complications, so its implementation should be due to the presence of an urgent need. In particular, indications for cordocentesis are:

  • The pregnant woman is over 35 years old, and the future father is over 45.
  • The presence in the family or in older children of chromosomal abnormalities or genetic diseases.
  • Unsatisfactory results of tests, biochemical screening, in particular, deviations from the norm of hormones.
  • The presence of mental disorders in the family history of one of the parents.
  • Complications during pregnancy.
  • Identification of abnormalities in the development of the fetus during ultrasound.
  • The presence of diseases in the mother that can adversely affect the development of the fetus, for example, rubella.

Cordocentesis is used for the following purposes:

  • Identification of genetic, hereditary diseases of the fetus, for example, Patau, Edwards poly- or monosomy of the X chromosome, Duchenne disease.
  • Diagnosis of intrauterine infections.
  • Determination of the presence of a delay in physical development and the reasons for this fact.
  • The introduction of drugs into the fetus.


How to prepare for the study

Cordocentesis is an invasive procedure that does not require special preparation. On the eve of the study, an ultrasound of a pregnant woman is performed, which allows you to determine the number of fetuses, the exact gestational age, the amount of water and the location of the placenta. The study allows you to establish the presence of anatomical features of a woman and a child that may affect the course of the procedure.

The order of the procedure

Cordocentesis during pregnancy is performed at 20-23 weeks of pregnancy. Previously, this cannot be done, because the blood vessels are too narrow for the insertion of a needle and blood sampling. The procedure is carried out under the control of an ultrasound probe. To take biological material for research, the vessels of the umbilical cord are punctured with a thin biopsy needle. During the procedure, the doctor monitors its progress on the monitor to prevent damage to the fetus, placenta or internal organs of the pregnant woman.


In order to prevent pain and eliminate discomfort, local anesthesia is performed at the site of the future puncture. Anesthesia is done immediately a couple of minutes before the procedure.
In medicine, there are two methods for conducting cordocentesis:

  • Double needle technique. Initially, a puncture is made with an amniocentesis needle, which is equipped with a rigid rod. After a puncture, it is removed and a needle is inserted to collect amniotic fluid. This biological material is also subject to research and allows you to more accurately determine the presence of pathology. Next, a cordocentesis needle is inserted - it is thinner, since it is intended for puncturing blood vessels (umbilical vein). A syringe is attached to the needle, which contains substances that prevent blood clotting. Diagnosis requires 1-5 mm of biological material.
  • Single needle technique. With this procedure, amniotic fluid and umbilical cord blood are taken with one needle.

After the cordocentesis, the doctor will definitely check the heart rate and perform an ultrasound scan to make sure there are no fetal injuries or other pathologies. In some cases, the doctor additionally prescribes antibacterial or tocolytic therapy.
This procedure is highly informative and the results of cordocentesis allow you to get a complete picture of the pathologies of the fetus, if any.

Contraindications for cordocentesis

  • Exacerbation of chronic diseases.
  • The course of an inflammatory or infectious process in the body.
  • The threat of abortion.
  • The presence of fibroids or other nodes in the uterus.
  • Incompetence of the cervix.

Such a procedure can lead to complications: cord blood bleeding, infection, miscarriage (occurs in 5% of cases), the appearance of a hematoma on the umbilical cord, and.
Cordocentesis is a type of invasive study of the fetal condition, which allows you to identify developmental abnormalities, a violation of the karyotype and other pathologies.

Cordocentesis is one of the methods of invasive prenatal diagnosis, in which fetal cord blood is taken for further examination. This procedure is performed no earlier than the 18th week of pregnancy, the optimal period is 22-24 weeks. Cordocentesis is indicated for the detection of chromosomal and hereditary diseases, the establishment of Rhesus conflict and hemolytic disease of the fetus.

Cordocentesis is performed under the control of sonography (ultrasound), through the anterior abdominal wall of the expectant mother, a puncture is made with a thin puncture needle, and thus enters the umbilical cord vessel. For the study, 1-5 ml of cord blood is enough. Cordocentesis results are ready within a week.

Before the procedure, the pregnant woman must take a written consent and explain all the possible risks from this invasive procedure. Indications for cordocentesis are put by the doctor, but the decision should be made by the pregnant woman herself, after weighing all the possible risks and the feasibility of the study.

Indications for cordocentesis

  • High risk of chromosomal diseases (according to the results of biochemical screening);
  • Detection of anomalies during fetal ultrasound that may be associated with chromosomal diseases (for example, a short femur, underdevelopment of nasal bones, etc.);
  • The presence of hereditary diseases in parents, if they already have children with congenital developmental disabilities;
  • Suspicion of Rh conflict, intrauterine infection;
  • Suspicion of hemophilia;

In addition, therapeutic measures can be indications for cordocentesis. With this procedure, it is possible to introduce therapeutic agents into the vessels of the umbilical cord of the fetus (infusion of blood products or drugs).

Contraindications

Cordocentesis is contraindicated in infectious processes, isthmic-cervical insufficiency (incompetence of the cervix), with large myomatous nodes (in the projection of the puncture), as well as violations of blood clotting in a pregnant woman. Cordocentesis should also not be performed if there is a threat of miscarriage.

Before puncture, an ultrasound examination of the fetus is performed to clarify its location, viability, clarify the location of the placenta, and the volume of amniotic fluid. It is optimal to perform a puncture of the umbilical cord in its free area, closer to the placenta. If cordocentesis is performed in the third trimester of pregnancy, then the use of CTG (cardiotocography) is mandatory to monitor the condition of the fetus.

Usually anesthesia for cordocentesis is not required. The procedure takes no more than 15-20 minutes. There are various methods of this manipulation, in some cases, amniocentesis is first done (puncture of the fetal bladder with amniotic fluid sampling), and only then the umbilical cord vessel is punctured. After puncture, 1-5 ml of umbilical cord blood is aspirated for its further examination (biochemical, genetic and for infections).

After the end of cordocentesis, the condition of the fetus is monitored (heart rate, physical activity). According to indications, antibacterial drugs are prescribed (for the prevention of infectious complications), and means for relaxing the muscles of the uterus.

The results of cordocentesis make it possible to determine the fetal genome with very high certainty, and thus exclude or confirm genetic and chromosomal complications.

Complications

Complications after cordocentesis are rare (less than 5% of cases).

It is possible to develop bleeding from the puncture area (on average, bleeding lasts no more than 1 minute and stops on its own). To reduce the risk of this complication, it is preferable to use small diameter needles. An umbilical cord hematoma may form at the puncture site and usually does not affect the fetus. Typically, such complications occur against the background of impaired blood clotting.

Violation of the functional state of the fetus is the most common complication of cordocentesis, the risk of its occurrence increases with increasing gestational age, and in the 3rd trimester is 3-12%. This complication is most often manifested by the occurrence of bradycardia (decreased heart rate) and requires medical treatment.

In 1.4% of cases, abortion may occur. This complication is feared by all women who are offered this procedure. But the risk of its occurrence is quite small.

Infectious complications in the form of chorioamnionitis are also extremely rare (about 1% of cases) and require appropriate medical treatment.

With a Rh conflict between the mother and the fetus, after cordocentesis, the development of alloimmune cytopenia (in a baby) is possible. The risk of this complication increases after cordocentesis through the placenta. This condition requires specific treatment (administration of anti-Rhesus immunoglobulin).

If, according to the results of cordocentesis, fetal diseases are detected, then only parents have the right to decide the future fate of the unborn child.

Cordocentesis is a procedure for taking blood from an unborn baby from the umbilical cord (so-called cord blood), which connects the fetus to the placenta. This procedure has become popular since the second half of the 20th century. after the advent of ultrasound machines, however, myths and passions about it can still be heard enough.

Does it make sense to perform cordocentesis, and how safe is this procedure for a pregnant woman and an unborn child? Let's figure it out.

Why is cordocentesis necessary?

Doctors refer a woman to cordocentesis in the following cases:

  • suspicion of the presence of chromosomal abnormalities in the unborn child (extra or missing chromosomes in the fetal genotype). The most common anomalies include Edwards, Klinefelter, Shereshevsky-Turner, etc.;
  • suspicion of the presence of severe genetic diseases in a fetus with a normal number of chromosomes - hemophilia, phenylketonuria, Ducheshen muscular dystrophy, cystic fibrosis, thalassemia, etc.;
  • age - in this case, the risk of chromosomal pathologies increases several times;
  • poor results of biochemical screening;
  • detection of anomalies on ultrasound that may indicate serious pathologies of the fetus (for example, underdeveloped nasal bones, short femur, etc.);
  • the presence of severe hereditary diseases in parents, as well as the presence of a child with a serious illness;
  • diseases suffered by a woman during pregnancy and capable of causing a fetal lag in development - rubella, cytomegalovirus infection, etc .;
  • - the procedure allows you to determine the degree of development of anemia in a child and decide on the advisability of a blood transfusion;
  • suspicion of intrauterine infection - followed by a decision to conduct a so-called. fetotherapy (intrauterine treatment of the fetus).

The basis for conducting cordocentesis is a combination of the signs listed above. No one will send a woman for this examination just because she is 40 years old. But cordocentesis will confirm or exclude the alleged pathology with a probability of 99.9%.

At the same time, the results of the analysis are not affected by the psycho-emotional state of the woman, the intake of drugs, the presence of chronic diseases in the expectant mother. An incorrect result can be obtained only if the blood sampling technique is not followed, in which the blood of the mother and child can mix. However, modern equipment makes it possible to effectively control such a violation of the procedure.

When is cordocentesis contraindicated?

Cordocentesis is not performed if the following cases occur:

  • acute inflammatory process or exacerbation of a chronic inflammatory process in a pregnant woman;
  • the threat of termination of pregnancy or the interruption that has begun;
  • large myoma nodes at the intended puncture site (myoma - a benign tumor of the uterus);
  • insolvency of the cervix - in this case, the procedure provokes a threat;
  • problems with blood clotting in a woman.

When and how is cordocentesis performed?

This procedure is carried out not earlier than the 19th week of pregnancy. The optimal period for blood sampling is considered to be 22-25 weeks of pregnancy. By this time, an ultrasound of the fetus in the second trimester is already being performed, which helps to determine exactly whether cordocentesis is needed or not.

If you are too nervous, experts recommend drinking sedatives a few days before the procedure. Any normal woman is unlikely to stop worrying, but you will definitely need stronger nerves - at least until the test results are received.

Upon admission to a medical institution for the procedure, the patient must have with her a referral to a geneticist and an exchange card with test results and screening ultrasounds.

Cordocentesis is carried out strictly under ultrasound control in a mini-operating room and will take up to 30 minutes. When taking blood, the abdominal wall is pierced with a special needle and 1-5 ml of biomaterial is taken. This procedure is almost painless, so anesthesia is not done, local anesthesia is rarely used.

To avoid complications, a puncture is made in a place that does not touch the placenta. If this is not possible, the puncture is made at the thinnest point of the placenta. The injection site is treated with iodine or alcohol so as not to cause infection. Sometimes, according to the decision of a geneticist, cordocentesis is combined with amniotic fluid sampling.

Remember! Cordocentesis is an absolutely voluntary procedure, no one can force you to do it. The doctor can only inform you about the possible risks and recommend methods for solving problems and doubts, but only you and your loved ones make the final decision.

If you are afraid and in doubt, try to consult with several independent experts. Before carrying out cordocentesis, you must confirm in writing your consent to blood sampling or refuse medical intervention.

Mode of a pregnant woman after cordocentesis

The well-being of women after this procedure is completely different. Some immediately after leaving the mini-operating room, as before, are ready for an active lifestyle. Others may be disturbed by painful sensations, and such pregnancies will need much more time to recover.

The best option is bed rest after cordocentesis. How long - look at your own well-being. It is best to play it safe and take a sick leave for a few days; if there is a threat of a miscarriage, the doctor may recommend going to the hospital.

In any case, planning "great things" for this period of time is definitely not worth it. If you do not feel better within 3 days of having a cordocentesis, contact your doctor immediately.

Complications of cordocentesis

According to experts, the total risk of complications does not exceed 5%. Of course, the statistical 5% of complications and 100% of complications in the expectant mother are two big differences, but in general, this procedure, despite its "scary", is safe. Most often found:

  • bleeding from the puncture site - occurs in 50% of cases, usually resolves on its own within 1 minute;
  • a decrease in the heart rate (the so-called bradycardia) of the fetus - occurs in 3-12% of cases, as a rule, passes on its own without medical correction;
  • hematoma (bruise) in the injection area - small hematomas occur in 17% of cases and do not affect the condition of the fetus. Large hematomas are rarely formed, as a rule, they indicate a violation of blood clotting;
  • infectious complications - occur in 1% of cases due to non-compliance with the rules of asepsis and antisepsis by medical personnel;
  • increased risk of developing a Rh conflict - if a Rh-negative woman is carrying a Rh-positive child, she should be given an anti-Rh immunoglobulin;
  • abortion - spontaneous miscarriage or premature birth occur in 1.4% of cases.

The threat of termination of pregnancy is observed in 5-6% of cases, but this level of complications is not higher than in women who did not undergo cordocentesis.

When can I get the test results?

Test results will be ready in 7-10 days. As practice shows, the waiting time is much more complicated than the procedure itself, so we recommend that the expectant mother be patient and not torment herself and others. Yes, it’s difficult, but try to convince yourself that you can’t change the situation with the baby’s health in any way.

If the baby is healthy, you are just wasting your time. If the examination reveals a serious pathology of the fetus, then you will make a difficult decision - to have an abortion for medical reasons or to give life to a sick baby.


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