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PRENATAL DIAGNOSIS AND FETAL THERAPY
Fetal anomaly scan
The purpose of the examination is to obtain information on the development of the pregnancy and the condition of the foetus at the time of the examination. The structure and development of the visible organs as well as the fetoplacental circulation are assessed.
The purpose of the examination is to obtain information on the development of the pregnancy and the condition of the foetus at the time of the examination.
The structure and development of the visible organs (brain, heart, kidneys, spine, etc.) are assessed. In this manner, any structural abnormalities or diseases of the foetus may be detected.
Early diagnosis of some of these conditions allows for more intensive monitoring of the foetus and optimal birth planning (for example, if the baby is diagnosed with a heart defect, this is important information for planning the birth in the hospital, where adequate and life-saving care will be provided to the child in a timely manner).
What you should bear in mind before coming for a fetal anomaly scan
IVF pregnancyIf your pregnancy is achieved through fertility treatment, you should know the date of the egg retrieval, even if you had a frozen transfer, as this is important for dating the pregnancy as well as calculating the risk for chromosomal disorders (transferring embryos frozen 2 years ago reduces the risk for chromosomal disorders to the degree of risk for the woman at the time of the egg retrieval).
You should find out if there are any inherited diseases in the family – for instance, if there are children born with malformations who died soon after birth, and it is important to know the type of malformation. If you have medical history available, it is advisable to bring it with you on the day of the examination.
If you have any previous diseases or co-morbidities, it is advisable to bring the relevant documents and medical history records.
If you have undergone surgery, especially for malignant diseases, take the relevant medical history records with you, and the pathological report, if possible.
If fetal anomaly scans have been performed in another center, it is advisable to submit images of these and the written conclusion of the specialists.
About the fetal anomaly scan
Fetal anomaly scan is one of the most important ultrasound examinations throughout pregnancy and is an examination for any structural abnormalities of the foetus.
The examination is performed between the 19-th and 23-rd week, with the optimal gestational period being between 20 and 22 gestational weeks.
Although this examination is known as ‘4D’ among many pregnant women, most of the necessary organ images are obtained in two-dimensional (2D) mode on the device. Under good technical conditions and a ‘cooperative’ baby, a good quality three-dimensional image of the foetal face or a clip of the baby moving hands, grimacing, etc. can be taken, yet the main focus of this examination remains the viewing of the foetal organs.
It is important that the examination is carried out using a high-quality, high-resolution ultrasound machine and by an obstetrician qualified in this field.
The purpose of the examination is to obtain information on the development of the pregnancy and the condition of the foetus at the time of the examination.
The structure and development of the visible organs (brain, heart, kidneys, spine, etc.) are assessed. In this manner, any structural abnormalities or diseases of the foetus may be detected.
Early diagnosis of some of these conditions allows for more intensive monitoring of the foetus and optimal birth planning (for example, if the baby is diagnosed with a heart defect, this is important information for planning the birth in the hospital, where adequate and life-saving care will be provided to the child in a timely manner).
In any pregnancy, there is a 2-3% risk of structural abnormalities.
As the age of the pregnant woman increases, so does the risk of giving birth to a child with a chromosomal abnormality (abnormal number or structure of chromosomes – the carriers of our hereditary information).
Normally, humans have a total of 46 chromosomes, divided into 23 pairs, 22 of which code for what we look like, what color our hair is, etc., with one pair of chromosomes coding for our sex: XX – female, XY – male.
When three copies of one chromosome occur instead of two, a pathological condition called trisomy (one chromosome in excess is a pathological condition) occurs.
The most common chromosomal abnormalities are Down syndrome (trisomy 21), Edwards syndrome (trisomy 18), and Patau syndrome (trisomy 13).
In many cases, the foetus affected by a chromosomal abnormality shows deviations from the normal finding. These deviations may be structural defects or “abnormalities” (also called markers). The presence of such markers DOES NOT PROVE the presence of a chromosomal abnormality but increases the statistical risk of one.
The absence of these markers DOES NOT completely rule out a chromosomal abnormality, but significantly reduces the risk of one.
An ultrasound examination cannot completely rule out a structural abnormality, disease, or chromosomal disorder of the foetus, but a normal ultrasound finding significantly reduces the likelihood of such. The examination is a screening test, not a diagnostic method.
Chromosomal disorders are proven or excluded only by invasive methods (amniocentesis, chorionic biopsy, cordocentesis), which in turn are associated with a risk of pregnancy loss in the range of 0.5-1%.
We recommend booking an appointment for fetal anomaly scan with our specialists several weeks in advance. To book an appointment, call +3592 441 79 70 or +359882 193 970 or visit the Reception desk of Nadezhda Hospital. Online appointment booking is not available for the fetal anomaly scan.
IMPORTANT! On the day of the examination, it is advisable to arrive at least 5 minutes early at the consulting room where the examination will be carried out so that you have the opportunity to read the informed consent form and sign it before the examination.
About the ultrasound examination
Ultrasound examination can most often be performed through the abdominal wall, but it may also be necessary to have a vaginal examination. The procedure takes about 20 minutes.
You may ask your doctor questions during the examination, but we ask for your patience at certain times when higher concentration levels are required, and having a conversation is not recommended.
After the examination you will receive detailed information about your baby’s condition and a detailed written opinion.
As a final note: We always try to get nice 2D or 3D pictures of your baby as well.
It is advisable not to apply any cream to the skin of your abdomen before the examination, as this would reduce the sensitivity of the ultrasound machines and degrade the quality of the images.
We recommend that your bladder is empty before the examination to avoid poor visibility and unpleasant sensations for you during the examination. You will be given a questionnaire to complete before the examination. You will then proceed to the examination itself.
For children younger than 6 years the examination is rather uninteresting. The youngest ones fail to recognize their brother or sister in the “boring” black and white pictures and get bored very quickly. In case it is of utmost importance for you that the whole family is present, we would ask you not to do this during the Foetal Morphology examinations. We wish all our patients’ healthy babies, but in the event that we come across a pathological finding, it is important for us to give the time and attention necessary to each individual case. This may cause delays in scheduling. We ask for your understanding, patience, and tolerance.
Early fetal anomaly scan
The test, also known as “first fetal anomaly scan”, is performed between gestational week 11 and gestational week 13 and is sometimes incorrectly referred to “biochemical screening”, although its essential part consists of ultrasound diagnosis, supplemented by blood testing, and a more precise name for it would be “combined screening”..
Intermediate fetal anomaly scan
Sometimes, at the discretion of the antenatal specialist, an intermediate fetal anomaly scan may be recommended – between 16 and 18 gestational weeks – to reassess the fetal anatomy, and to follow up some specific markers. This gestation period allows for a more detailed view of the fetal heart and fetal anatomical structures and enables the prenatal medicine specialist to assess whether subsequent invasive diagnostics – amniocentesis – are necessary.
The benefits of fetal anomaly scan at this time of pregnancy are that if invasive diagnostics are indicated, there is sufficient time to perform amniocentesis, wait for the results to develop, and then develop a plan for subsequent management.
Fetal anomaly scan between 20 gestational week and 23 gestational weeks
During this examination, also known as “large fetal anomaly scan,” the structure and development of visible organs (brain, heart, kidneys, spine, etc.) are evaluated and structural abnormalities or fetal diseases may be detected. In some of these, it is likely that treatment may be administered to the fetus in order to have a favorable pregnancy outcome. In others, however, the pregnant woman may be faced with a difficult choice – to carry the pregnancy to term despite the fetal abnormality identified, or to terminate the pregnancy. For pathological findings, we strive, without influencing you, to provide you with the necessary detailed information to help you make a decision that is optimal for your life situation.
Late fetal anomaly scan
The examination is also known as “third fetal anomaly scan” and is performed in gestational weeks 28-30. It establishes the fetal growth rate, the maturity and position of the placenta, the amount of amniotic fluid, fetal, and placental blood flow, and the anatomical structures of the fetus.
See also
Invasive techniques for prenatal diagnosis
Fetal echocardiography
Non-invasive prenatal diagnosis (NIPD)
Fetal surgery
