Nasal bone hypoplasia 12 weeks. Normal development of the nasal bone in an embryo

Medicine is developing every year; if a couple of decades ago it was enough to take several tests throughout the pregnancy and undergo several ultrasound examinations, today every expectant mother is provided with constant monitoring and a comprehensive examination is guaranteed. It is unlikely that we are talking about the whims of specialists; the whole point is the possibility of identifying anomalies and developmental defects in the fetus. Modern diagnostic methods are able to detect various pathologies already in the initial stages of pregnancy.

Let's talk about nasal hypoplasia

Experts judge the correct formation and development of the fetus by examining the length of the nasal bone in the embryo. This indicator is determined during an ultrasound scan; therefore, it is undesirable to refuse this procedure. This procedure does not cause any harm to either the mother or the child, but the benefits of ultrasound examination are undoubted.

The nasal bones are long, quadrangular bones that can be seen in the baby as early as the tenth or eleventh week. In cases where the length of the nasal bone is less than prescribed by the norms at this stage of the baby’s development, hypoplasia is diagnosed. When the nasal bone is completely absent, it is called aplasia. Why are doctors so concerned about the length of the nasal bone? Hypoplasia or aplasia indicates certain chromosomal abnormalities. The list of possible anomalies includes Down disease, Turner syndrome, Edwards syndrome and other similar problems.

However, if we consider the early stages of pregnancy, doctors are more worried not so much about the size of the nasal bones as about their presence or absence. The length can be determined only after 12 weeks after conception.

When considering the results of the study, doctors make comparisons between the first screening and established standards using a special table. When determining whether the obtained data corresponds to existing standards, it is important to remember the paramount importance of the presence of the nasal bone.

Digital data in the early stages is questionably informative; chromosomal abnormalities manifest themselves later. But it should be remembered that at the slightest suspicion that such a diagnosis is correct and at the possibility of a baby being born with serious pathologies, a number of additional checks and thorough analyzes are necessary.

Correspondence of nose size to pregnancy period

The length of the nasal bone in an embryo depends on how many weeks the fetus is:

• say, at 12 or 13 weeks this size reaches only 3 mm;
• at 20 or 21 weeks there is an increase in length from 5.5 to 5.7 mm;
• by week 35 the size is 9 mm.

It should be noted that even with the high accuracy of all instruments, the specialist must be highly qualified and have extensive experience, which will allow them to accurately determine the presence or absence of nasal hypoplasia. Modern equipment models increase the reliability of the results. Subsequent observations of the embryo and its development are based on the data obtained in order to identify developmental pathologies.

In cases where an ultrasound does not make it possible to determine whether the fetus has nasal bones, but there is a noticeable thickening in the collar area, the likelihood is stated - and quite high - that the baby born will have Down's disease or other birth defects.

Many parents begin to panic when informed that the length of the fetal nasal bone does not meet the norm. However, such excitement may turn out to be premature, because it is almost impossible to determine any anomaly based on only one indicator.

To clarify the diagnosis, confirm or refute it, you can recommend that the patient undergo an ultrasound again, using the services of another doctor, changing the location of the study and the device. If the results of a repeat ultrasound are not more positive, amniocentesis may be performed. The procedure involves collecting a small amount of amniotic fluid for genetic analysis.

If the results are negative, some couples decide to terminate the pregnancy, which is why timely research is so important - one should make sure that the fetus is developing normally and there are no abnormalities.

Reasons for the development of pathology

Future parents may be interested in the question of why the fetus may be diagnosed with nasal hypoplasia and what is the relationship between the length of the nasal bone and genetic defects. Previously, the possibility of developing nasal hypoplasia in an embryo did not worry doctors too much. However, recent studies have shown the relationship between the deviation of the length of the nasal bone from the norm and chromosomal abnormalities. As statistics show, based on the results of thorough research, 80% of nasal hypoplasia was present in a child diagnosed with Down syndrome at birth.

As a result, the conclusion was that nasal hypoplasia, noticed during an ultrasound, is a symptom accompanying congenital abnormalities in the embryo. The factors that cause it are numerous and varied, but the following can be particularly highlighted:

• Taking pharmaceutical drugs, including antimicrobial substances, at the initial stage of pregnancy.
• Abuse of smoking and alcoholic beverages.
• Overheating of a pregnant woman, lasting for a long time.
• Predisposition to pathology at the level of heredity.
• Severe pathologies at the initial stage of pregnancy.
• Infectious pathological conditions, including toxoplasmosis, rubella, influenza and others.
• Injuries or bruises received during pregnancy.
• Intoxication of the body under the influence of hazardous chemicals.
• Gamma radiation directed at a pregnant woman.
• Environmental factors that negatively affect the female body.

As we see, congenital nasal hypoplasia in the fetus may not manifest itself as a natural result of hereditary predisposition, but develop as a result of an incorrectly formed lifestyle or as a consequence of the influence of negative factors. Usually pregnant ladies do not focus their attention on them.

Is it possible to prevent pathology?

Of course, the first question that concerns a woman when diagnosing nasal hypoplasia in a fetus is whether there are methods of treating the fetus. It should be noted that preventive measures are always welcome. If the expectant mother wants the fetus to develop correctly, without any abnormalities and without the formation of congenital pathologies that carry an undoubted danger to the child’s life, she should take her condition with full responsibility. If we abstract from the possibility of hereditary abnormalities, the health of the embryo depends on the mother’s lifestyle and the condition of her body. Gynecologists have developed a list of recommendations addressed to the future parent to minimize the formation of fetal nasal hypoplasia:

• Adjust the diet and menu - it won’t hurt to enrich the list of products with those that contain valuable elements that help in the development of the child.
• Increase the amount of time you spend in the fresh air, walk every day for at least several hours.
• Take responsibly the medications prescribed by your doctor, do not self-medicate, and, if possible, refrain from using pharmaceuticals unless they are prescribed by a physician as necessary.
• Try to protect yourself from stress, avoid not only physical, but also emotional overload.
• Organize healthy night and day rest.
• Forget about bad habits.
• Do therapeutic exercises.
• Strengthen immunity.
• Fully follow the recommendations of specialists.

At the same time, you should be aware that the listed list of measures will ensure the birth of a child without nasal hypoplasia only in the case of healthy heredity on the part of both parents. Nasal pathology is treatable, however, the sooner measures are taken, the higher the real possibility of obtaining a positive result.

In the case when repeated examinations for suspected nasal pathology give positive results, further steps are determined depending on the intentions of the woman expecting a child.

There are quite a large number of indicators that reflect the character of the fetus at different stages of pregnancy.

One of the most significant is the size of the nasal bone at different weeks of gestation.

This parameter is taken into account when determining various deviations, and is also used as a diagnostic criterion in identifying developmental pathologies.

The 12th week of pregnancy is considered a very important period in the development of the fetus.

This is due, first of all, to the fact that at this time the pregnancy ends and the second begins.

For many women, the onset of the 12th week brings real relief, since during this period of time the likelihood of spontaneous abortion is significantly reduced.

In addition, the 12th week of pregnancy is accompanied by a gradual decrease in negative symptoms, including morning sickness.

Also, in pregnant women, the frequency of urination decreases, which can be quite high during the first trimester. This period of pregnancy is accompanied by a gradual increase in the size of the uterus, which indicates that the fetus is growing.

At week 12, the fetus's limbs are actively forming. The length of the unborn child is about 10 cm in length, and its body weight is up to 20 g.

During this period of time, the main organs that support the vital functions of the fetus are already formed and continue to increase in size in subsequent stages of pregnancy.

A characteristic feature of the end of the first trimester of pregnancy is the manifestation of the child’s first behavioral reactions. Often at this stage the fetus exhibits

The length of the nasal bone is an important indicator of normal fetal development.

anxiety, which is associated with hormonal activity in his body. This also applies to the mother, since at this stage hormonal changes are carried out, aimed at adapting the body for subsequent pregnancy.

In general, the 12th week of pregnancy is considered very important due to the fact that it is the final stage of the first trimester, when the fetus has already formed the main internal organs.

Why is the size of the nasal bone determined?

An ultrasound examination aimed at determining the size of the fetal nasal bone is carried out for several reasons.

The main one is that using this diagnostic procedure, the presence of any genetic abnormalities is determined. These include Turner, Edwards and other disorders associated with pathologies of the chromosome set.

The bone formation, the size of which is determined by ultrasound, becomes noticeable no earlier than 8-9 weeks of pregnancy. Normal indicators, as a rule, are contained in special tables, with which the actual results obtained are subsequently compared.

At 10-11 weeks, in some cases it is not possible to determine the size of the bone, but this is not evidence of pathology. The presence of abnormalities may be indicated by the complete absence of bone formation, which is why additional diagnostic procedures are performed to identify abnormalities.

The normal size of the nasal bone is determined based on the following factors:

• Age characteristics of both parents
• Quality
• Having bad habits
• The degree of physical stress on the body
• Ethnic characteristics of mother and father
• The fact that parents and their immediate relatives have genetic abnormalities

It should be noted that the nasal bone norm at 12 weeks may vary not only depending on the factors presented above. It is also important to take into account that in more than 50% of cases it does not give reliable results, which is why the procedure is repeated, as a rule, more than once.

12th week of pregnancy - end of the first trimester

The normal size of the nasal bone at 12 weeks is 3.1 mm. The maximum allowed value is 4.2 mm. If the size of the bone formation is less than 2 mm, this is evidence of a developmental abnormality, which may indicate a chromosomal abnormality.

In general, the size of the nasal bone is a fairly important indicator that reflects the nature of fetal development and may indicate the presence of pathologies.

Signs of chromosomal abnormalities

Even if the pregnancy proceeds without any visible complications, this does not allow us to be sure that the child will be born completely healthy.

That is why various diagnostic measures, including identifying the size of the nasal bone, must be carried out during pregnancy and pregnancy.

A variety of factors can provoke any pathological phenomena, which is why every expectant mother should monitor any changes in her condition.

A chromosomal abnormality is a pathological process in which the development of an extra pair of chromosomes occurs, or the incorrect formation of its structure.

Such pathologies most often lead to Down's disease, in which there is an extra chromosome in the 21st genetic pair.

The following signs may indicate the presence of chromosomal pathology:

In general, there are several signs that may indicate an increased likelihood of genetic abnormalities in the fetus.

Determining the size of the fetal nasal bone is one of the most important diagnostic procedures, which is performed from 10-11 weeks of pregnancy. The presence of abnormalities may indicate chromosomal pathologies of the unborn child.

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Advances in modern medicine make it possible to carefully monitor pregnant women and identify those who are at risk for possible chromosomal abnormalities of the fetus. Thus, ultrasound examination of the fetal nasal bone (NB) is an important diagnostic tool for identifying possible anomalies.

The nose is a quadrangular elongated bone. Hypoplasia (or shortening) indicates underdevelopment of the organ from the very beginning of its formation. Any manifestation of it is a pathology.

Why is it necessary to measure the fetal nasal bone?

The length of the nasal bone is an indicator of the normal development of the fetus. There are two pathological conditions – hypoplasia and aplasia. Hypoplasia is a decrease in its length, and aplasia is the absence of this bone. Both of these conditions indicate the presence of pathologies in the fetus associated with chromosomal abnormalities. This indicator is detected through ultrasound. Its normal values ​​indicate intrauterine development without deviations.

If it is clear that the indicators are small, i.e. If there are deviations in the direction of decrease, then this condition is a sign of hypoplasia. An obvious pathology and deviation is the absence of bones, which indicates the absolute underdevelopment of this organ and a gross anomaly. This happens rarely, in exceptional cases.

The nasal bone is visualized by ultrasound already at 10-11 weeks. Deviations in this indicator are considered a sign of certain diseases caused by chromosomal abnormalities. These are conditions such as Down syndrome, Edwards syndrome, Patau syndrome, etc.

In the early stages of pregnancy, the presence of this bone in the fetus is important, and measurement of its size for diagnostic purposes should be made no earlier than 12-13 weeks. With hyperplasia or aplasia detected on ultrasound, one can suspect not only abnormal intrauterine development, but also Down syndrome. In this case, it is necessary to conduct an additional examination after 2 weeks to monitor the situation.

In addition, in such a situation, specialists compare the results of the first screening with existing standards using a special table. When deciphering, it should be remembered that, first of all, the fact that the fetus has a nasal bone is important, and measurement indicators at this stage are not so informative, since chromosomal abnormalities for this marker appear somewhat later. However, we should not forget that the conclusion about chromosomal abnormalities leading to the birth of a child with serious illnesses is a serious diagnosis that requires careful verification and detailed analysis.

Norms of indicators at different stages of pregnancy

The growth and development of the fetus occurs in accordance with certain patterns and standards, confirmed by science and life. This also applies to the parameters of the nose of the unborn child:

• So, the norm at 12 weeks is considered to be a length of 3 mm;
• at 20 weeks the bone should be from 5.7 to 8.3 mm;
• at 35 weeks - at least 9 mm.

How accurately this indicator will be determined depends on the equipment of the ultrasound machine and on the professionalism and qualifications of the doctor conducting such a diagnosis. These normal indicators are the starting point for deciphering and studying the results of prenatal screening.

The information obtained during the examination is the basis for further monitoring of the condition of the fetus, in order to identify possible developmental anomalies. If during an ultrasound examination it is impossible to determine the presence of NK and thickening of the collar zone is noted, then doctors note a high degree of probability that the child will be born with birth defects or with Down syndrome.

Determining this parameter is so important that some parents, having learned about this possibility, decide to terminate the pregnancy. Therefore, it is important to undergo the appropriate examination in a timely manner and make sure that the unborn baby is healthy and does not have various developmental disorders. The presence or absence of hypoplasia indicates normal or pathological intrauterine development of the child. Only an appropriate specialist can make a diagnosis and determine the likelihood of such a risk.

To determine hypoplasia, the following table is used, which presents the norms of the indicator at different stages of pregnancy. Based on this table, which shows the average, minimum and maximum values, doctors summarize the data obtained from ultrasound and give the appropriate conclusions:

What are the causes of this pathology?

Expectant mothers may have a natural question as to what causes the appearance of such a pathology, and how it is related to the definition of genetic anomalies and defects.

If previously the fact of the presence of hypoplasia did not attract the attention of doctors, then relatively recently scientific research has revealed the relationship of such anatomical deviation with the possibility of giving birth to a child suffering from Down syndrome and other chromosomal abnormalities.

As a result of numerous studies in this area, it turned out that such hypoplasia was found in 80% of children born with Down syndrome. This gave rise to the conclusion that such a pathology detected on ultrasound is a sign of congenital abnormalities in the child. Factors that can cause such a deviation are quite diverse. Genetic scientists identify the following:

• taking potent medications in the early stages of pregnancy, including antibacterial drugs;
• excessive consumption of alcohol and tobacco products;
• prolonged overheating of a pregnant woman;
• hereditary predisposition;
• severe illness in the early stages of pregnancy;
• infectious diseases such as rubella, toxoplasmosis, influenza, etc.;
• injuries and bruises of a pregnant woman;
• poisoning with dangerous chemicals;
• gamma radiation from a woman during pregnancy;
• environmental factors that have a harmful effect on the body of a pregnant woman.

So, such a congenital pathology can be the result not only of a hereditary predisposition, but also appear as a result of an incorrect lifestyle and the influence of unfavorable factors, to which pregnant women most often do not pay due attention. At the same time, these factors directly affect the development of the unborn child. Diagnostic methods of modern medicine used in obstetrics make it possible to detect such abnormalities in the early stages of pregnancy and inform parents about them.

Diagnosis of hypoplasia

At 10 weeks of pregnancy, ultrasound can be performed to measure various parameters of the fetus that characterize its development. The discrepancy between their indicators and the norm is the basis for making assumptions about possible developmental deviations.

If the doctor gives a conclusion about possible hypoplasia, then to clarify this diagnosis, the pregnant woman must undergo additional research. If it is confirmed again by ultrasound, amniocentesis is performed - analysis of amniotic fluid for the presence of genetic abnormalities.

The study will provide objective data on intrauterine development and assess the degree of chromosomal abnormalities. However, even if the ultrasound showed a small nose that does not correspond to the norm, you should not despair ahead of time. This parameter alone is not always enough to issue a conclusion about the presence of a disease and severe pathology. Despite the fact that the first screening indicators have important diagnostic value, it is necessary to conduct a more in-depth examination and wait for its results.

When diagnosing pathologies, we must not forget about the individuality of any organism, which is characteristic even at the level of intrauterine development. Due to such features, when measuring important indicators, in this case the nasal bone, they may differ slightly from the given standard values. Therefore, it is advisable to say with a high degree of confidence that there are chromosomal abnormalities only in the presence of general fetal hypoplasia.

In this case, reduced sizes of all limbs and organs are noted. All this suggests that the difference between indicators and the accepted norm is not always a sign of one or another developmental defect. This can only be an individual characteristic of the unborn child, and he will be born a completely healthy baby. Only a doctor is able to correctly decipher the examination results and make a diagnosis.

It depends on the duration of pregnancy and is one of the most important indicators of the child’s development.

The dimensions of the nasal bone are measured during an ultrasound, which is performed during the first screening at 10-14 weeks. The 12th week is considered optimal for measuring this parameter. For the convenience of doctors and in order to find out whether the fetus is developing correctly, there is a table of norms. Thanks to the information contained in it, the expectant mother, by comparing the results of her ultrasound, can independently find out how one of the most important parameters corresponds to normal development.

Why is it so important to know the size of your nasal bone? Because this indicator can indicate fetal pathologies in the early stages. In this case, it is very important that this bone is visualized in principle.

The nasal bone norm for 12 weeks is 3 mm, but the minimum value is considered to be 2 mm.

For comparison: at 15 weeks its size should already be on average 3.8 mm, at 20 weeks - 7 mm, and at 35 weeks - 12.3 mm.

If the parameter identified during screening is far from normal, nasal bone hypoplasia occurs. Often it indicates the development of chromosomal abnormalities such as Down, Turner or Edwards syndrome.

To be fair, it is worth noting that hypoplasia of the nasal bone does not always indicate abnormalities, since the development of each fetus is individual. Before diagnosing hypoplasia, you should conduct a biochemical analysis, find out the thickness of the nuchal translucency, look at other indicators on ultrasound, and only then talk about possible fetal pathology. If all other indicators revealed during the tests at the first screening are normal, then it is too early to worry that the child has hypoplasia of the nasal bone. The doctor must also take into account the parents' medical history. Perhaps the baby has a small nose blocked by genetics. By the way, 3D ultrasound can visualize the nasal bone in more detail. Therefore, if hypoplasia is suspected, a woman can additionally undergo this type of study. During an ultrasound, the results largely depend on the competence of the specialist who conducts it. The human factor should not be excluded either.

If hypoplasia is confirmed by blood tests and other ultrasound table indicators, then it is worth repeating the analysis during the second screening. If in this case the research results are disappointing, then the woman is prescribed a consultation with a geneticist and additional, more complex examinations.

What developmental defects does hypoplasia of the nasal bone indicate?

Normal nasal bone is an indicator of many chromosomal abnormalities. But the very first thought that occurs to a doctor who discovers hypoplasia is that the fetus is developing Down syndrome.

Indeed, many scientific studies have already proven that hypoplasia, together with other markers of chromosomal pathologies, most often indicates the development of trisomy 21.

What is Down syndrome? Pathology indicates that a third chromosome has appeared in the chromosomal series instead of two. Thus, the child has 47 chromosomes instead of 46. The syndrome occurs quite often: in 700 births, one child is born with trisomy 21. If other syndromes most often form in female children, then in this case the ratio between the sexes is the same. The reason for the manifestation of this trisomy in the fetus is not known for certain, however, experts often associate it with the age of the mother. As noted in many studies, the older you are, the greater the likelihood of having a child with Down syndrome. If before the age of 35 the risk of having such a baby is 1 in 1000, then after 30 it becomes 1 in 214. And after 45 it is 1 in 19. According to research, the risks are also associated with the age of the father: after 42 years they increase many times over.

Children with Down syndrome are usually very gentle in nature. As for their mental and physical development, they do not fit into the norm.

Why is nasal bone size at 12 weeks a marker for trisomy 21?

Because children with this pathology have a flat face, a short nose and small Mongoloid eyes.

What other factors indicate the development of the syndrome? These are the small size of the frontal lobe, femur and humerus, hyperechoic intestine, heart defects, dilated renal pelvis.

An equally important indicator besides the nasal bone is the thickness of the collar space. It is also determined during the first screening and precisely up to 14 weeks, because further it cannot be considered as an indicator of pathologies. At 12 weeks, the TVP should be more than three millimeters.

If the length of the nasal bone and TVP deviate from the norm, this is a clear sign of the development of pathologies.

First screening during pregnancy: how else to determine fetal development

It is not for nothing that a pregnant woman undergoes her first examination at 10-14 weeks. It is at this time that you can judge the baby’s health by many indicators. Indeed, already at week 15, many of them will not be informative, such as TVP and the nasal bone.

A biochemical blood test and ultrasound examination are also important. They complement each other.

Biochemical analysis

At 10-14 weeks, a woman undergoes a double test during pregnancy. Her blood serum is analyzed for the amount of hCG hormone and Papp a protein.

If the amount of these substances at week 12 deviates from the norm, and in addition, the length of the nasal bone in the table is far from the norm, a pronounced pathology of the fetus is evident.

HCG is the very first marker of chromosomal abnormalities.

If the hormone level is low at week 12, this indicates a missed abortion or an ectopic pregnancy.

But if hCG is high, this indicates a hydatidiform mole or the development of Down syndrome. But it can also indicate a multiple pregnancy or be caused by the woman being too overweight.

Another marker of pathologies is the Papp a protein.

It is produced in the body of absolutely every person, but there is more of it in a woman’s blood during pregnancy, since in this case the protein begins to be produced by the outer layer of the placenta.

Ultrasound indicators of the first trimester at week 12: which ones are important?

The norm of the nasal bone and TVP are the main indicators that the doctor pays attention to. But fetometry in general helps the specialist understand whether hypoplasia of the nasal bone should be diagnosed or not.

Starting from the 12th week, the doctor is able to see all the sizes of the baby.

At this time, the weight and height of the fetus are measured. This parameter helps to understand how the child develops. At 12 weeks, the weight is only 15-20 grams, and the height is no more than 10 cm.

The coccygeal-parietal size is determined to understand how the baby’s brain and nervous system develop.

Biparental size is paid attention especially in the second trimester. This indicator also indicates brain development. Thanks to BPR, doctors can determine the gestational age very accurately.

DB is an abbreviation for the length of the femur. Doctors can also use it to determine the duration of pregnancy. The parameter is important in order to understand whether the fetus has skeletal dysplasia.

Using a parameter such as abdominal circumference, the doctor can draw a conclusion about how the child’s internal organs, in particular the gastrointestinal tract, are developing. During an ultrasound, a specialist visualizes the venous flow, gallbladder and stomach.

At week 12, little attention is paid to chest volume. But in the second trimester at 14-22 weeks, the indicator is very important.

If the baby’s indicators do not match the standards indicated in the table, the doctor can diagnose a developmental delay.

Its shape can be symmetrical or asymmetrical. With the first option, all the child’s sizes are lower in the same proportion from the norm indicated in the table. In the second option, only some indicators differ from the norm, while others correspond to the table.

There are degrees of developmental delay. The first says that the sizes differ from the norm by two weeks. The second indicates that the sizes are four weeks behind. The third is for a month.

Poor results and next steps

As a rule, it is difficult for a pregnant woman to perceive information that the baby is developing a pathology. The expectant mother is lost and often does not know what further steps to take. But it is important to remember that time is very valuable in this case.

Of course, you can get all the tests done at another clinic, but it’s better to make an appointment with a good geneticist.

If it later turns out that the fetus really has a serious pathology, and it would be more humane to have an abortion, then it will be too late: at 20 weeks, this is an already formed child who begins to make the first movements. For medical reasons, abortion is best done before 16 weeks.

But it is also important to keep in mind that the results of screening during pregnancy do not guarantee 100% accuracy, although based on the analyzes it is possible to draw conclusions that are quite close to reality.

In the first trimester, this is a chorionic villus biopsy. This analysis is done up to 13 weeks. The doctor takes chorionic villi, which are genetically identical to the fetus, for examination. That is, by examining the villi, the doctor can tell 99% whether the child has genetic abnormalities or not. However, not all anomalies can be detected by this analysis. For example, the doctor will not tell you whether there is a neural tube defect.

During a chorionic villus biopsy, the specialist carefully punctures the abdomen to obtain the necessary biomaterial.

Other procedures to detect abnormalities are carried out later in pregnancy. These include cordocentesis and amniocentesis.

Cordocynthesis is an analysis during which, under ultrasound guidance, a doctor takes blood from the umbilical cord for examination. In this case, the specialist receives the genetic material directly from the baby himself, therefore allowing him to find out the development of the fetus with an accuracy of 99.9%. Cordocentesis is performed not only to detect chromosomal abnormalities. It also allows you to diagnose cystic fibrosis, hemophilia, and fetal infection. The study is carried out starting from 21 weeks. The main difficulty is that the umbilical cord is mobile, and the specialist must be highly qualified to carry it out without harm to the health of the mother and child. Another difficulty lies in obtaining pure baby blood without maternal admixture.

If we compare cordocynthesis with amniocentesis, then the probability of complications during the first analysis is 3%, while during the second it is only 0.5%.

Amniocentesis is the removal of amniotic fluid. Such an analysis can be carried out both in the early stages of pregnancy - from 8 to 14 weeks, and after 15 weeks. But if in the first trimester amniocentesis is intended to identify pathologies of fetal development, then in the second trimester the doctor performs amniocentesis to identify intrauterine infections or to understand how mature the lung surfactants are. Decoding the results takes two weeks.

Fetal pathologies

During pregnancy, the child can develop both mild and severe pathologies. Anomalies that were previously considered rare have become increasingly common. The reasons for this are unknown. It is curious that in 1987 there was an outbreak of the birth of children with Down syndrome.

In addition to this chromosomal abnormality, Edwards syndrome - trisomy 18 - is often encountered. In addition to blood counts and ultrasound, the doctor can guess about this pathology by the child’s weak activity, polyhydramnios, and small placenta. At birth, such children weigh no more than two kilograms and often die before reaching five months.

Treacher-Collins syndrome is a gene mutation that leads to facial deformities, problems with swallowing, and breathing problems. It is interesting that with this pathology, the child’s development does not lag behind his peers.

The doctor closely monitors the state of fetal development throughout the woman’s pregnancy. In the second trimester, the expectant mother undergoes a second screening, which consists of an ultrasound and a triple test with a blood test for the amount of hCG, free estriol and AFP. At 30-34 weeks, the pregnant woman expects a third screening. In this case, the doctor no longer looks at the anomalies, but checks the maturity of the placenta and the presentation of the baby.

In order to determine chromosomal abnormalities in the fetus in the early stages of pregnancy, there is a highly sensitive marker, which is the assessment of the nasal bone of the unborn baby. If it deviates slightly from the norm, a disease such as Down's disease is determined. Usually, at the 10th week of pregnancy, it is already possible to say how it will proceed and whether the fetus has genetic disorders: a predisposition to a gene abnormality is expressed in the shortening of the nasal bone (hypoplasia) or its absence (aplasia).

How are abnormalities in fetal development determined?

Medicine has advanced a lot today; women who want to give birth to a full-fledged child no longer need to guess on the tea leaves whether the fetus has abnormalities; one qualified specialist is enough to decipher the results of ultrasound examinations in the early stages of pregnancy.

Doctors have long established the norms for the nasal bone of the fetus, at which there is a likelihood of a child being born with a genetic disease, an incorrect set of chromosomes - Down's disease. There are only small deviations from the norm, which are considered acceptable due to the individual developmental characteristics of the fetus, but they are allowed if the nasal bone is enlarged in size; when it comes to its underdevelopment, the doctor will talk with the mother about confirming the alleged diagnosis and making expanded perinatal screening for pathology of the neural tubes and abdominal wall defects, hCG and thickness of the embryonic nuchal space. When genetics has diverse indicators, a chorionic villus biopsy is examined, which gives an accurate result and answers the question: “Does the fetus have a genetic pathology?” If all indicators deviate from the norm, the doctor will talk with the patient about terminating the pregnancy at a stage of up to 12 weeks, since with internal fetal defects it is impossible to give birth to a healthy and full-fledged baby.

Nasal bone at 12 weeks: normal

Hypoplasia or enlargement of the nasal bone, as well as aplasia - the absence of growth, indicate dysfunctional embryonic development. There may be several reasons for this, ranging from alcoholism of one of the parents, smoking during pregnancy, previous viral infections, long-term use of penicillin antibiotics, an increased dose of gamma radiation, prolonged inability to get pregnant and ending with the age of the woman, who is closer to 40. years, gene rearrangements begin in the body, and in 70% of cases she cannot bear a full-fledged child.

The first ultrasound is prescribed at 10-12 weeks, its measurements are 50% reliable, only the fact of the presence of a nasal bone is considered, and indicators of its complete ossification will be visible after 5-6 weeks, in the next study.

The average length of the nasal bone at 12 weeks should be 3 mm. During the period of the first movement of the fetus, i.e. at the 21st week this figure will increase to 5-5.5 mm, and by the last trimester it should increase to 9 mm.

A deviation in the first study will be considered the absence of a nasal bone or its value of 1-1.5 mm.

Nasal bone: table

Modern equipment can work wonders if the results of ultrasound examinations are correctly interpreted. As soon as the first indicators are included in the patient’s pregnancy monitoring chart, this serves as a starting point for comparison and further support in the development of the fetus.

If the anomaly is detected in the early stages, the result is not yet considered final; you must undergo a perinatal screening procedure to ensure the accuracy of the diagnosis. It happens that doctors make mistakes, so it is better to exclude the possibility of medical error with the help of modern embryo studies, which can track the growth and development of not only the nasal bone, but also the limbs, the shape and size of the head, the collar area, etc. The main task of accompanying pregnancy is to ensure that the fetus develops harmoniously, and the child is born to the joy of the parents, healthy and strong. To exclude Down's disease, Edwards' disease, Turner's disease, Patau's disease and various facial defects in the unborn child, specialists entered the results of anomalies into the table that we present below.