Information on the
Dear patient,
Dear parents-to-be,
Your gynaecologist has explained the various prenatal examinations to you. You may not yet have decided whether and which of these tests are suitable for you.
We, the co-operation partners of your doctors, provide you with information on this Website a summary of the possibilities of prenatal diagnostics and the currently applicable legal regulations.
If you have any questions, we will be happy to help you.
Info
The overview will take you directly to the topic you are interested in. Simply click on the relevant chapter and you will find all the information you need.
Overview
Prenatal
Diagnostics
"The main thing is to be healthy!"
The desire for a healthy baby unites all expectant parents. There are therefore moments of uncertainty and concern in every pregnancy - especially when deviations from normal values are detected during check-ups. However, questions about possible risks can also arise even before a planned pregnancy, for example if there is a family history.
We are here for you
The good news is that most babies are born healthy. As part of our examinations, which meet the highest medical standards, we give you peace of mind and are on hand to advise and support you in all matters relating to prenatal medicine.
At our institute in Cologne, we offer you the entire spectrum of prenatal medicine:
- Genetic counselling
- First trimester diagnostics
- Ultrasound fine diagnostics
- Prenatal genetics (including punctures)
- Fetal therapy
However, none of these tests can guarantee a completely healthy child.
Is prenatal diagnostics right for me?
Whether you want to use the possibilities of prenatal diagnostics is entirely up to you as parents-to-be - there are good reasons for every decision, whether in favour or against.
However, if you decide to have an examination with us, you can rest assured that you will receive the best possible counselling, diagnostics and support.
Which examination is right for me?
This depends on various factors, including the week of pregnancy (week of gestation) and the particular issue underlying your desire for prenatal diagnostics - for example, age, family history or a Abnormal ultrasound findings.
What happens if the findings are abnormal?
If we should actually come across a problem during our examinations or diagnose a disease in your unborn child, we will of course continue to be at your side.
Together with our team of experienced gynaecologists, geneticists and psychosocial counsellors, we look for the best treatment options for you and your unborn child. As we are also closely networked with leading clinics, we also call in experts from other specialisms if necessary.
You can rely on us to provide you with the best possible medical care and to be there for you at all times.
Praenatal plus
the practice
Expertise, experience and empathy
Whether by referral or on your own initiative, you are welcome to come to us to have the health of your child in utero examined with the help of prenatal diagnostics.
Our modern methods of prenatal medicine can also offer you great assistance if you wish to clarify any risks before becoming pregnant - for example, if you have a personal or family health history. In our Practice follow the highest medical standards: Our Doctors have been recognised by the German Society for Ultrasound Medicine at level II and III for many years. However, individual advice and personal support are just as important to us as professional expertise.
Our understanding of our role is all-encompassing
As the vast majority of pregnancies are completely normal, we can often relieve the parents-to-be of unfounded worries and accompany the joy of growing life. In pregnancies with complications, health risks or genetic conditions, our task is much more demanding.
It is precisely in situations like these that our understanding of your role is all-encompassing. We help you to categorise and assess which path makes sense in the respective situation and present you with the entire spectrum of options and possibilities. We also deal with the issues, which are usually very complex in these contexts, both in our Team by specialists and human geneticists as well as in close consultation with your gynaecologist.
Detailed advice
Before each examination, we provide you with comprehensive advice on the procedure and objectives. We will give you a comprehensive overview of the possibilities and limitations of prenatal diagnostics.
Which examination method we use depends on many different factors. First and foremost, the method used depends on the week of pregnancy (week of gestation), as well as individual issues such as the age of the expectant mother and family history, Abnormal ultrasound findings and so on.
All-round care through cooperation
We work closely with various hospitals and can therefore also foetal therapies (treatment of the child in the womb) with the attending doctors. This also applies to any operations that may be required immediately after birth, such as the treatment of a cleft lip or palate.
At Praenatal plus, we are on hand to advise you on all matters relating to prenatal medicine and genetics and look after you and your partner in close consultation with the referring doctors.
Our
Services
1. ultrasound
Precision diagnostics
Precision diagnostics with ultrasound
One Ultrasound examination is a side-effect-free way of establishing contact with the unborn child at an early stage of pregnancy and making statements about its development. We can carry out an in-depth organ ultrasound between the 20th and 21st week of pregnancy.
This examination is significantly more extensive than the ultrasound examination scheduled for this period in accordance with the maternity guidelines. Such a detailed examination not only requires special equipment, but also a great deal of experience on the part of the examining doctor.
The Precision diagnostics with ultrasound takes about 30 to 40 minutes under good examination conditions, depending on the position of the baby and the thickness of the mother's abdominal wall.
Ultrasound diagnostics can be used to examine all the organs of the unborn child that can be visualised.
The function of the baby's heart and the blood flow behaviour in the uterine vessels can also be checked. However, an ultrasound scan, although very comprehensive, can never reveal all physical illnesses or chromosomal defects.
The Ultrasound fine diagnostics serves to accompany high-risk pregnancies and/or to make an exact diagnosis following abnormalities in the screening. If we diagnose a disease or malformation in your child during this detailed examination, we will work with you to take timely measures for the further course of the pregnancy (including further examinations, therapies) or plan the birth with you by involving other specialists and in close cooperation with the maternity clinic.
Your gynaecologist will decide whether there is a reason for a referral for a detailed ultrasound diagnosis. Of course, you can also make use of ultrasound fine diagnostics as a self-payer.
Species and
Areas of application
Organ sonography
Organ sonography is only performed under certain conditions. For example:
- if there is already a sick child or a child born with a disability
- if a disease of the mother (e.g. diabetes mellitus) could have a negative effect on the development of the unborn child
- if hereditary diseases of the parents could have a negative effect on the development of the unborn child
- if the expectant mother had to take medication during early pregnancy
- if the expectant mother had to undergo an intensive X-ray examination
- if the expectant mother has been exposed to radiotherapy
- if there are hereditary diseases in the family
- if problems occur during the course of an earlier pregnancy
- if abnormal findings were made during the examinations by the gynaecologist in accordance with the maternity guidelines
Organ sonography of the feet
Echocardiography
Echocardiography is a component of advanced organ diagnostics that is primarily used to assess the child's heart and large blood vessels. Here too, the qualifications and experience of the examining doctor play a decisive role. Echocardiography is used to examine the anatomy of the unborn child's heart structures. The function of the heart valves and chambers, the position of the large arterial and venous vessels as well as the position, size and symmetry of the heart and its beating frequency are also examined during an echocardiogram.
As a child is constantly moving in the womb, it can often be very difficult to detect small structures. It may therefore not be possible to diagnose a very small hole in the child's cardiac septum, for example. However, as both the qualifications of doctors and the equipment are constantly improving, the majority of cardiac malformations can now be diagnosed or ruled out between the 13th and 14th week of pregnancy.
However, a definitive diagnosis of the unborn child's heart function and blood flow can only be made between the 19th and 21st week of pregnancy. At the same time, the assessment of the heart should be completed within the 22nd (23rd week of pregnancy at the latest), as the unfavourable position of the child usually makes diagnosis very difficult. The sound permeability of the baby's ribs also often impairs the diagnosis.
Colour-coded echocardiography
Growth and Doppler controls
are arranged for certain indications:
- There is a suspicion of reduced growth or stunted growth in the child
- the amount of amniotic fluid is reduced
- the heart rate of the unborn child shows abnormalities and/or
- there is a suspicion of heart defects/heart disease
- there is a suspected illness of the child or a malformation
- there is a blood group incompatibility
- the mother suffers from high blood pressure, kidney disease, pre-eclampsia, diabetes mellitus or another illness
- the mother suffers from a specific infection, such as rubella
- there was a premature birth or miscarriage in a previous pregnancy
- for twin or multiple pregnancies
The Doppler examination offers two advantages:
It can reassure the expectant parents if an expressed suspicion is not confirmed. This can always happen, for example, if a child is too small for its gestational age but is still being well cared for.
However, if the suspicion is confirmed, the Doppler examinationto take measures at an early stage. These include intensive prenatal care and, in rare cases, the initiation of premature labour.
3D/4D ultrasound
Expectant parents are particularly interested in a modern 3D/4D ultrasound because of the fascinating images. For us, however, it is more of a complementary measure for special issues.
We therefore only use 3D/4D imaging of the unborn child as a rule if this is associated with a diagnostic benefit and the examination conditions allow it.
2. ultrasound
in the first trimester
One First trimester diagnostics can be carried out between weeks 11+1 and 13+6, i.e. at the end of the first trimester of pregnancy. The 12+0 to 13+0 week of pregnancy is usually the best possible time for the examination due to the ultrasound conditions. First trimester screening (ETS) has developed significantly in recent years. Nuchal translucency measurement is only one part of the examination. The early organ examination, a laboratory examination for the early detection of a Pre-eclampsia and the assessment of the placental position add important examination content to the ETS. In some cases, this can be a genuine preventive measure (for example, in the treatment of pregnancy-related high blood pressure). The ETS is not part of the regular screening for normal pregnancies, which means that the costs for these examinations are not covered by statutory health insurance.
Early organ examination
A comprehensive ultrasound examination is at the centre of first trimester diagnostics. This examination allows contact to be established with the unborn child at an early stage of pregnancy, making it possible to make statements about its development. However, early organ diagnostics also has its limits: An unremarkable finding is never a guarantee of a healthy child. In addition, early ultrasound alone does not allow any conclusions to be drawn about any chromosomal abnormalities, for example.
Risk calculation for trisomy
Nuchal translucency measurement
In order to be able to make a probability statement about the risk of a trisomy of chromosomes 13, 18 or 21, we determine the nuchal translucency (nuchal fold) of your unborn child using an ultrasound scan. We can also arrange for a hormone analysis of the mother's blood to calculate the risk of trisomy. The combination of nuchal translucency measurement, other ultrasound features and the hormone test means that the most common chromosomal abnormalities are not ruled out one hundred per cent in first trimester screening - but often with a high degree of certainty.
Evaluation of results
The risk determined after the examination is given as a ratio. Let us give you an example: If the risk of having a child with Down's syndrome is given as a ratio of 1:500, this means that for every 500 pregnant women with the same risk, one woman will have a child with Down's syndrome: For every 500 pregnant women with the same risk, one woman will have a child with Down's syndrome. In the table you can categorise your result in relation to the pure age risk.
Age risk for trisomy 21
(for a 12-week pregnancy)
| 20 years > 1 : 1068 | 36 years > 1 : 196 |
| 25 years > 1 : 946 | 38 years > 1 : 117 |
| 30 years > 1 : 626 | 40 years > 1 : 68 |
| 32 years > 1 : 461 | 42 years > 1 : 38 |
| 34 years > 1 : 312 | 44 years > 1 : 21 |
We recommend a chromosome analysis from amniotic fluid or chorionic villi from a determined individual risk of currently 1:10 or worse. This recommendation also applies in the case of a very significant nuchal widening of more than 3.5 mm or malformations associated with chromosomal abnormalities. If the risk of trisomies is very low (less than one in a thousand), no further genetic testing is recommended. If the risk is between 1:10 and 1:1000 (a so-called intermediate residual risk), a DNA blood test is recommended.
Causes of a widened nuchal translucency
If a First trimester diagnostics a widespread nuchal translucency has been detected, this can have very different causes: In addition to a suspected trisomy, the causes can also include heart defects, skeletal malformations or metabolic defects and diaphragmatic/umbilical hernia.
However, if the chromosome findings due to a widened nuchal translucency remain unremarkable, targeted examinations such as an organ ultrasound should be carried out before the 20th week of pregnancy to rule out other possible causes of a widened nuchal translucency.
Sometimes a widened nuchal translucency can occur in completely healthy children without any recognisable cause. The pregnancy then also proceeds without complications.
Normal human chromosome set
The risk calculation
The risk calculation procedure is based on certain guidelines and framework conditions. These are specified by the FMF-London (FMF = Fetal Medicine Foundation). The FMF-London has set itself the goal of providing all interested pregnant women with the First trimester diagnostics offer standardised prenatal diagnostics at an early stage of pregnancy.
As an FMF-certified practice, we meet the highest quality standards. www.fetalmedicine.com.
Blood flow measurement in the ductus venosus
Frequency of chromosomal abnormalities in the 12th week of pregnancy
According to the German Genetic Diagnostics Act (GenDG), which has been in force since February 2010, an ultrasound examination with subsequent risk calculation is also a genetic examination.
Therefore, the doctors carrying out the treatment are obliged to do so:
- to inform you about the examination
- Offer you genetic counselling
- to provide you with information material.
Early detection of pre-eclampsia
The risk of a Pre-eclampsia can be determined as part of first trimester diagnostics. If a high risk of pre-eclampsia in the expectant mother is recognised early, preventative measures and appropriate check-ups can be arranged.
Pre-eclampsia - what is it?
Pre-eclampsia is a complication that can occur during pregnancy. Typical symptoms are high blood pressure, protein excretion in the urine and water retention in the tissue. In many cases, there is also hypofunction of the placenta.
On average, around one in 100 women develops pre-eclampsia during pregnancy. However, a severe form of pre-eclampsia often develops at the very beginning of pregnancy, in which case delivery must be induced before the 35th week of pregnancy to protect the mother and child. Statistically, around one in 200 pregnant women develops severe pre-eclampsia.
Pregnancies with a high risk of pre-eclampsia can now be recognised early thanks to the latest tests. If a high risk of pre-eclampsia has already been recognised in the first half of the pregnancy, the doctors looking after you can take appropriate preventative measures and arrange check-ups. We therefore recommend that the pre-eclampsia risk test is carried out at the same time as the First trimester screening to be carried out.
We require the following information for an examination for pre-eclampsia risks:
- Blood pressure measurements on both arms
- Doppler measurements in the arteries supplying the uterus
- Information on any previous pregnancies
- Information on health history
- Height and weight
- PAPP-A value (used for First trimester screening also measured to calculate the trisomy risk)
The use of acetylsalicylic acid (ASA) is currently recommended for a personal risk of one in 200 or worse. In addition, a blood coagulation test may also be useful in individual cases.
3. genetic
Counselling
Personalised advice and risk assessment
Reasons for a Genetic counselling can be present even before pregnancy. For example, there may be supposedly hereditary diseases in the family. In addition, the effects of medication and exposure to radiation or the physical constitution of the parents-to-be can raise questions about the health of your child. However, the reasons for genetic counselling can also arise during pregnancy, especially if there are abnormal findings or the expectant mother falls ill.
In our practice, we will provide you with detailed information about the possibilities of prenatal diagnostics and treatment. In addition, we offer you a personalised risk assessment tailored just for you, taking into account your personal and family health history.
However, we cannot rule out any risk of illness for you and your child. In a few cases, we are also unable to provide any precise information about the probability of a particular disease or disability occurring. Nevertheless, in many cases it makes sense to take advantage of genetic counselling.
Reasons for genetic counselling
Before pregnancy
- one of the two partners wishing to have children suffers from a hereditary disease
- it is known that one of the two partners who wish to have children is a carrier of genetic diseases
- there is already one or more children who have or are suspected to have a genetic disorder
- a presumably genetically caused disease is known in the family
- there is a related marriage of e.g. cousin and cousin
- one or both partners who wish to have children belong to an ethnic group in which a certain hereditary disease occurs more frequently
- radiotherapy was carried out before the pregnancy or certain drugs were taken that can alter the genetic material
- there is a maternal illness that can lead to developmental disorders in the child during pregnancy (examples are drug abuse, infections, heart failure or epilepsy)
- One or both partners who wish to have children are older
- there have already been several miscarriages whose cause has not yet been clarified (habitual miscarriages)
- there is involuntary childlessness, behind which a genetic cause is suspected
During pregnancy
- there is a abnormal ultrasound findings
- the First trimester screening (neck density measurement) or the triple test has revealed a conspicuous blood test
- the amount of amniotic fluid has changed during pregnancy
- an illness has occurred in the expectant mother during pregnancy
- Radiation exposure during pregnancy
- Taking medication during pregnancy
How does a genetic counselling session work?
During a genetic counselling session, you have the opportunity to ask any questions you may have about your individual situation and to determine your desired counselling goal.
Aspects of the counselling interview:
- The personal questions and the counselling objective are clarified
- Medical history
- A family tree is created that goes back at least three generations
- Existing medical findings are discussed and evaluated
- A physical examination is carried out on the expectant parents or certain relatives if this serves to clarify an issue and the person consents to the examination
- Genetic tests on blood and tissues can also be carried out if this serves to clarify an issue and the person concerned consents to the test
- Special genetic risks are categorised and assessed
- General genetic risks are discussed
- We will inform you in detail about the diseases or disabilities in question
- together with you, we clarify the possible significance of the diseases or disabilities in question for your life and family planning or your own health
We then summarise the consultation in a written report and send this to you or the referring doctor.
Individual questions that we address during genetic counselling:
One Genetic counselling is useful if you suffer from a chronic illness or are taking certain medication and would like to know how this may affect your pregnancy. Diabetes mellitus, epilepsy, heart defects/heart failure, Crohn's disease/ulcerative colitis, multiple sclerosis, kidney transplants, psychoses, rheumatism and many other illnesses can have an impact on pregnancy.
Pregnancy can increase the health risk for some women, while for others taking medication during pregnancy can lead to problems.
We will clarify whether there are special risks for you personally during genetic counselling.
Facts that need to be clarified
Special syndromes and diseases
The genetic mutations that lead to disease in numerous hereditary diseases are now well known. Consequently, carriers can be identified through a targeted examination of the genetic material (DNA).
As a rule, the results of a DNA test are available after two to six weeks. How quickly the test is completed in each individual case depends on the specific issue. In the case of very rare diseases, for example, certain tests may only be possible abroad. In this special case, an application for cost coverage is first submitted to the health insurance company, for which experience has shown that a waiting period of several weeks must be planned.
If you are aware of hereditary diseases in your family and would therefore like a prenatal risk assessment, you can take advantage of genetic counselling and, if necessary, DNA diagnostics before you become pregnant. In this way, you can avoid possibly running out of time later on.
Habitual miscarriages (repeated miscarriages)
If you have suffered two or more miscarriages and are now wondering whether these were accidental events or whether there is a cause for the miscarriages, genetic counselling is recommended. Miscarriages are not uncommon: around 15-20 % of all confirmed pregnancies end in miscarriage. The World Health Organisation (WHO) only speaks of a tendency to miscarry and a condition requiring treatment after three miscarriages have been suffered. On the other hand, the probability of another miscarriage increases after just one or two miscarriages.
In addition to genetic counselling, we also offer miscarriage consultations. We will inform you in detail about the possible causes of your miscarriage and introduce you to various examination methods that are useful for clarifying the cause. In addition, after taking your medical history, we often take a blood sample from both parents for further examinations. It is therefore an advantage if both parents are present during the miscarriage consultation. If we find the reason for your miscarriage, we can initiate treatment if necessary to increase your chances of having a baby.
Involuntary childlessness
There can be many medical reasons for an unfulfilled desire to have children. Among other things, changes in the genetic make-up of one or both partners can be the cause. In order to clarify this diagnostically, we offer genetic counselling. If necessary, we will also carry out further investigations. For treatment procedures such as hormonal stimulation or artificial insemination, please contact an appropriate fertility clinic. Your gynaecologist will be happy to advise you on the most suitable institution.
4. foetal
Therapy
If the unborn child has been diagnosed with a disease, this often requires treatment in the womb. This can improve the child's chances of survival or development.
Foetal therapy may be necessary in the following cases:
- Amniotic fluid deficiency
- Cardiac arrhythmia
- an infection has occurred during pregnancy
- there are serious growth disorders
Foetal therapies must be carried out under clinical conditions. We carry out treatments in the womb in the following clinic:
Gynaecological Clinic of the Municipal Hospitals
Cologne-Holweide
Neufelder-Str. 32
51067 Cologne
Make an appointment about our practice.
5. prenatal
Genetics
Limits of chromosome analysis
If, for example, changes occur in very small chromosome segments or only individual genes are altered, this cannot be recognised under the microscope.
- If the body cells of the unborn child carry a so-called mosaic (a different set of chromosomes), this cannot be recognised with certainty (although this is only very rarely the case)
- Although we check suspected cases by excluding contamination, it cannot be ruled out with absolute certainty that maternal cells have grown in the incubator instead of foetal cells (although this occurs in less than one per cent of cases)
- In rare, unfavourable circumstances, the test results for twin pregnancies may only apply to one twin
- The test result may be available later than usual because the cell cultures grow very slowly (in a few cases)
- In rare cases, no analysis is possible. In this special case, we will discuss the individual further procedure with you and your gynaecologist. Under certain circumstances, for example, a repeat puncture may not be necessary if a rapid test has been performed.
Amniocentesis
The amniocentesis
For pregnant women or couples who wish to have children, amniocentesis is still the most common test method used today to rule out genetic abnormalities in the unborn child. In this examination, foetal cells are taken from the amniotic fluid and their genetic material is then analysed. In this way, numerous chromosomal disorders can be ruled out with a high degree of certainty. In addition, other diseases or malformations can be ruled out with a high degree of certainty based on the amniotic fluid analysis (e.g. spina bifida aperta, the so-called open back).
Younger pregnant women are also increasingly opting for an amniocentesis if they recognise their individual risk (age risk or as determined by a First trimester screening) are personally considered too high. The decision as to whether an amniocentesis should be carried out can be made by pregnant women or parents-to-be regardless of the individual risk findings for a possible chromosomal disorder in the child. However, we only carry out punctures in our practice once (at least) the 15th week of pregnancy has passed, as amniocentesis can lead to more frequent complications in the first few weeks of pregnancy.
Procedure for amniocentesis
During an amniocentesis, a very thin hollow needle (the outer diameter is around 0.7 mm) is inserted into the amniotic cavity. This process takes place under constant Ultrasound control so that injury to the foetus can be ruled out. Approximately ten to 15 millilitres of amniotic fluid are removed, which corresponds to less than ten percent of the total amount of amniotic fluid. The loss of this small amount of amniotic fluid can be quickly compensated for by the amniotic cavity. The procedure itself only takes about one to two minutes and usually only causes a slight pulling sensation in the abdomen of the women being examined. Thanks to the elastic tissue, the tiny puncture channel closes again immediately after the puncture.
Cultures are created using the cells obtained from the amniotic fluid. The growth and multiplication of the cell cultures can take some time. On average, however, the result of amniocentesis is available within two weeks. However, an additional rapid test (FISH) can reliably rule out the most common chromosomal abnormalities (trisomy 13, 18, 21) within one working day of the puncture. The sex of the child can also be reliably determined by PCR. No further amniotic fluid needs to be taken for this additional test, as only a minimal amount of genetic material (DNA) is required.
The costs for the PCR rapid test are only covered by statutory health insurance companies in the case of serious abnormalities and are not always covered by private insurers either. The enzyme acetylcholinesterase (AChE) and the protein alpha-fetoprotein (AFP) are analysed in the amniotic fluid so that clefts of the spine (spina bifida aperta) can be ruled out with a high degree of probability.
The risks of amniocentesis
There is a small risk that an amniocentesis will trigger a miscarriage. The miscarriage rate increased by an average of three losses per 1,000 pregnancies. In very rare cases, the amniotic fluid may be lost through the vagina. In most cases, however, this defect in the amniotic sac closes again and the pregnancy usually continues without complications. An infection or haemorrhage due to amniocentesis occurs even less frequently. Your individual risk of complications will be clarified and assessed in an ultrasound examination before the puncture.
In our Cologne practice, we have performed more than 3,000 amniocenteses in the last 8 years.
Ways to reduce the risk of complications
A study involving 35,000 women has shown that taking the antibiotic azithromycin in the last three days before the puncture can reduce the risk of miscarriage due to the procedure to well below one in 1,000. Taking this antibiotic is also safe during pregnancy due to its few possible side effects. The medication is intended to prevent existing infections of the cervix or vagina from being stimulated and provoking premature rupture of the membranes.
Publications on the administration of azithromycin during pregnancy do not show any increased malformation rates. Even when the drug was administered in very high toxic doses in animal experiments, no malformations were observed.
Chorionic villus sampling
The placenta (placenta, chorion in early pregnancy) is derived from the fertilised egg, so cells obtained from it can be used to analyse the child's chromosomes. If a chromosome analysis is desired or indicated very early in the pregnancy, a chorionic villus sampling is useful.
This applies under the following conditions:
- there is a desire on the part of the mother or the expectant parents for an early diagnosis
- there are abnormalities in the ultrasound image
- in the First trimester screening a high risk was identified
- there are already hereditary diseases or metabolic disorders in the family environment
In our practice, we perform a chorionic villus sampling from the eleventh week of pregnancy at the earliest. The risk of complications is higher before this, as the embryo's organ development is not yet complete. In contrast to an amniocentesis, a chorionic villus sampling does not provide any information about clefts of the spine (spina bifida aperta).
Procedure for chorionic villus sampling
During a chorionic villus sampling, a thin hollow needle (outer diameter less than 1 mm) is inserted into the placenta so that small tissue cells can be removed. This procedure takes place under constant Ultrasound control off. The procedure often only takes one to two minutes. The women examined usually feel a pulling sensation in their abdomen during the puncture.
Cultures are created from the tissue removed. As these cultures need some time to multiply and grow, the result of the chorionic villus sampling is available after approximately ten days.
A short-term test is carried out in addition to every chorionic villus sampling. This test can rule out the most common chromosomal abnormalities just one to two working days after the procedure.
The risks of chorionic villus sampling
This resulted in an increase in the natural miscarriage rate of around 0.3 per cent, which means three miscarriages per 1,000 pregnancies. However, it should be noted that natural miscarriages also occur more frequently in this early stage of pregnancy than in the later stages of pregnancy.
More than 800 chorionic villus biopsies have been performed in our practice since 2008.
Umbilical cord puncture
In the case of some diseases of the unborn child, an umbilical cord puncture may be necessary. This procedure allows blood and medication to be introduced into the child's circulation. For diagnostic or therapeutic reasons, this puncture is only possible after the 18th week of pregnancy.
An umbilical cord puncture is only used for special questions:
- if there is a blood group incompatibility
- if there is an infection during pregnancy
- if the child has anaemia (anaemia)
- if a paediatric metabolic disorder is suspected
- if there are abnormalities in the Ultrasoundall for late chromosome analysis
What needs to be considered after amniocentesis, chorionic villus sampling and umbilical cord puncture?
Immediately after the amniocentesis, you should lie down and rest for at least half an hour. We offer you our relaxation area for this purpose. Should complications occur in very rare cases, these occur in particular within the first 24 hours after the puncture.
We therefore recommend that you rest on the day of the puncture and the next day, mainly lying down. Ideally, you should stay at home and avoid heavy physical exertion such as heavy lifting, frequent climbing of stairs or sport.
If you are working, we advise you to ask your gynaecologist to issue you with a sick note for these two days. You should also visit your gynaecologist for a check-up one to two days after the amniocentesis.
If you lose blood or fluid after a puncture, or suspect this, you should definitely consult your doctor or a clinic. The same applies to severe lower abdominal pain or any other symptoms. If there are no complications after the amniocentesis, you can resume sporting activities one week later without any concerns.
Air travel or sexual intercourse are then also possible again. Of course, this only applies if your doctor has not already given you a different recommendation for your behaviour after the puncture.
fetalDNA test
Tiny fragments of DNA (genetic material) circulate in the blood plasma of every human being. In pregnant women, there are also fragments of genetic material from the foetus or placenta in the blood (up to ten per cent). For this reason, attempts have been made for several years to recognise genetic diseases in the child on the basis of the mother's blood.
The COMPANY Lifecodexx has been offering the so-called Praena-Test® since 2012. This makes it possible to test for trisomies 13, 18 and 21 using maternal blood.
There is also the fetalis® test, which has been offered by the company Amedes in Germany since 2016. Testing for the most important aneuploidies is standard.
Pregnant women can use these fetalDNA tests if you only want to find out the probability of one of these trisomies in your unborn child and do not want an amniocentesis or placental biopsy.
By the end of the ninth week of pregnancy, the fetalDNA tests possible. Pregnant women who are interested in foetal DNA testing are offered individual genetic counselling and a Ultrasound examination between weeks eleven and 13 of pregnancy.
If after the genetic counselling If you wish to have a foetal DNA test as early as possible, we will take the necessary blood sample after the tenth week of pregnancy.
However, when making your decision, please bear in mind that an ultrasound scan after the eleventh week is more informative than at an earlier stage. Whether a placental biopsy, a fetalWhether it makes sense to have a DNA test or not, most pregnant women decide on the basis of the test between the eleventh and 13th week of pregnancy. At this point, the phase of early miscarriages is largely over. In addition, the proportion of foetal DNA in the mother's blood is usually higher in this period than in the early weeks of pregnancy. As a result, test failures are very rare.
Thanks to the Ultrasound examination Between the eleventh and 13th week of pregnancy, we can tell most pregnant women or parents-to-be early on that their child is developing well and on time. Many risks for the further course of the pregnancy (restricted placental function, risk of premature birth, high blood pressure in the mother) can already be recognised at this stage.
If abnormalities are found on the ultrasound image, there may be a variety of genetic or non-genetic reasons. To the Clarification of these abnormalities of the unborn child, a fetalDNA test does not.
Limits of fetalDNA tests
Means fetalDNA tests your unborn child can only be tested for trisomy 21 (Down's syndrome), trisomy 18 (Edwards' syndrome) and trisomy 13 (Pätau's syndrome). As a result, only three of a large number of genetic disorders can be tested and cannot be recognised or ruled out with absolute certainty. Trisomy 21 and trisomy 18 are detected using the fetalDNA tests are correctly diagnosed in around 99 per cent of cases. This means that one in 100 unborn babies affected by one of these trisomies is not recognised. The detection rate for trisomy 13 is lower.
The fetalDNA tests are unsuccessful in two to three per cent of cases, in which case analysis of the mother's blood provides no information.
Out of 1000 trisomy diagnoses using fetalDNA tests have proven to be false according to previous studies. Accordingly, an abnormal blood test must be followed by an amniocentesis or chorionic villus sampling to verify the findings.
fetalDNA tests can also be carried out for twin pregnancies. The detection rate for chromosomal abnormalities is lower. If two embryos were originally created and only one child has developed, a fetalDNA test not possible.
Realisation of the fetalDNA tests
PraenaTest
The PraenaTest is carried out by the LifeCodexx laboratory in Constance. It tests for trisomy 13, 18 and 21.
fetalis test
The Amedes Group offers the fetalis test. The test is carried out in Hanover. Tests are always carried out for trisomy 13, 18 and 21 and for monosomy X.
As the providers change the costs for the tests at relatively short intervals, you can find out about the current prices from us.
The respective cost billing is always carried out directly by the provider.
Only the doctors who supervise and send in the test are responsible for explaining the significance, safety and limitations of the respective test.
Array CGH examination
Array CGH analysis is a computer-aided analysis method that can detect the smallest chromosomal changes that were not detected by previous tests. Array CGH analysis is therefore a useful extension and addition to classic chromosome analysis, which can provide new findings in the case of inconspicuous previous genetic findings.
Array CGH analysis can provide reliable information about numerical chromosomal changes within just a few days. In addition, it is also possible to obtain much more precise information about microchanges in the genome using array CGH analysis. Accordingly, array CGH is developing into a very important method of analysis in prenatal diagnostics. Array CGH chip analysis has also become an important method for the examination of physically or mentally impaired children (postnatal examination).
In the case of abnormalities in prenatal diagnostics, the use of an array CGH analysis must currently still be individually authorised by the cost bearers. If there are indications of developmental disorders that cannot be detected using chromosome analysis, array CGH analysis is generally used. In the case of unremarkable findings, the Array-CGH chip analysis can be carried out as an optional service.
Procedure of the Array-CGH examination
For the array CGH test, part of the genetic material (DNA) must be obtained by puncturing the amniotic fluid or umbilical cord or by a chorionic villus sampling. The DNA is then attached to a chip and labelled with fluorescent dyes.
This makes it possible to recognise whether certain areas of the unborn child's genome contain losses or surplus information.
All examination methods
at a glance
Investigation |
Optimal time |
| Early organ examination (if necessary with risk calculation for trisomy) |
12+0 - 13+2 SSW |
| fetalDNA test (from maternal blood) |
from 11+0 SSW |
| Chorionic villus sampling | from 11+0 SSW |
| Amniocentesis | from 15+0 SSW |
| Alpha-feto protein (AFP) | from 15+0 SSW |
| Umbilical cord puncture | from 18+0 SSW |
| Ultrasound fine diagnostics / echocardiography | 20+0 - 21+6 SSW (or earlier if recommended) |
| Doppler ultrasound | from 26+0 SSW |
Explanation
13+2 weeks' gestation means: 13 completed weeks' gestation plus 2 days, which is equivalent to the 2nd day of the 14th week.
