Frequently asked questions
Questions (FAQ)

Although they are born healthy in the vast majority of cases, almost all parents are concerned about their child in the womb. Prenatal diagnostics offers a whole range of medical examinations that can reveal the state of health of the unborn child. However, we do not want to give you a generalised answer as to what prenatal diagnostics can do for you personally. To do this, we need to know your specific questions and concerns. That is why we would like to provide you with comprehensive information and advice on the possibilities and limitations of prenatal diagnostics before we carry out any tests.

There are many different examination methods in prenatal diagnostics. Within our range of methods, we alone offer six different examinations of the Ultrasound diagnostics on. There are also three invasive procedures and the foetal therapy. In addition, we offer a Human genetic counselling . Which method is used in each individual case depends on your week of pregnancy and your specific questions (e.g. your age, family history, abnormalities in the ultrasound findings).

The decision as to which methods from the spectrum of prenatal diagnostics are ultimately used to examine an unborn child lies exclusively with the parents. We are here to help you with this decision and clarify the necessary requirements. Together with you, we will discuss the questions and goals that motivate you to undergo a prenatal examination. We will also clarify together in advance what it would mean for you to find out that your unborn child is ill. In this context, we will also discuss the consequences that you could expect from a conspicuous findings would draw. We also show you how you can deal with the uncertainty before the test results are available.

In addition to your doctor, this is us. We see it as our most important task and obligation to provide you with a reliable framework for your decision. In the event of abnormal ultrasound findings or a family history, our Practice genetic counselling in which all detailed questions can be clarified. In addition, we can offer you psychosocial counselling (together with our partner "Frauen beraten - donum vitae") before and during prenatal diagnostics.

Of course, we will not leave you alone if we discover a problem or illness in your unborn child. It is a matter of course for us to offer you both medical and psychosocial counselling and care in such a situation. Together we will look for the best treatment options for you and your unborn child. At your request, we can also put you in touch with self-help groups or specialists who will provide medical care for your child after the birth. If necessary, we will also consult experts from other specialist fields (e.g. paediatricians or cardiologists).

The guidelines for prenatal care provide for three Subsonic investigations with your gynaecologist: An examination between the ninth and twelfth week of pregnancy, a further examination between the 19th and 22nd week of pregnancy and a final ultrasound examination between the 29th and 32nd week of pregnancy. These are purely routine examinations if the pregnancy is progressing without complications. However, further ultrasound examinations at a centre for prenatal diagnostics may be necessary in the case of high-risk pregnancies, suspected malformations or illnesses in the child, personal safety requirements or further questions.

There are substances in the mother's blood that can be analysed to calculate the risk of certain chromosomal abnormalities: One is the protein PAPP-A and the other is the hormones β-HCG and PlGF. After a detailed consultation, the parents-to-be should decide for themselves whether they only want to take the nuchal fold measurement or also take advantage of this additional service.

No, that can be a First trimester screening cannot provide. A nuchal fold measurement only allows an assessment of the risk. In order to obtain reliable information about chromosomal disorders, expectant mothers should instead have a chromosome analysis carried out on amniotic fluid or placental tissue.

Was the First trimester screening If a widened nuchal translucency is detected, this can have very different causes. Sometimes this widened nuchal translucency can be seen in completely healthy children without any recognisable cause. However, the widened nuchal translucency can also be the result of disorders of the foetal cardiovascular system. Malformations, infections or genetic abnormalities can also be a cause. If the focus of the following examinations is only on Down syndrome, a whole range of problems in the unborn child, some of which can be treated, may be overlooked.

A First trimester screening cannot guarantee a healthy child. Even after an inconspicuous examination, a small residual risk remains. However, this applies not only to Down's syndrome, but also to a number of other possible problems. However, whether further tests are advisable should be considered in an individual consultation.

If you are unsure about your test results, we will be happy to discuss them with you! We will explain the significance of the test results to you and help you make further decisions. For example, through early organ diagnostics and examination of the foetal heart and important blood vessels, we can also help you decide whether genetic testing of your child is an option. In many cases, the use of an NIPT (non-invasive foetal DNA test) can eliminate the need for invasive diagnostics).

Most women do not describe the procedure as painful. Rather, these women report a slight pulling sensation in the abdomen, similar to menstrual pain. A foreign body sensation may also occur during the procedure.

Nowadays, the most common chromosomal abnormalities can be ruled out with a high degree of certainty using chromosome analyses. The same applies to certain hereditary diseases, which can also be ruled out with a high degree of certainty using today's methods through a targeted search. However, there are also numerous diseases that have not yet been detected. Furthermore, no examination method can guarantee a healthy child. Ultrasound also has its limits: Although many malformations and functional organ disorders can be detected early using ultrasound, the quality of this examination is heavily dependent on the quality of the ultrasound machine and the experience of the examiner. Accordingly, even an unremarkable ultrasound finding cannot guarantee a healthy child.

Invasive diagnostics should be used if the expectant parents want to rule out the possibility that their child has a chromosomal anomaly (e.g. Down's syndrome) or a specific genetic defect. To do this, the child's cells must be removed and analysed. This is done by means of a small procedure known as a puncture of the expectant mother's abdomen.

With a FISH rapid test the most common chromosomal disorders, such as trisomies of chromosomes 13, 18 or 21 (the latter being the well-known Down's syndrome), can be ruled out with a very high degree of certainty. However, structural changes and rare anomalies can only be reliably determined through the microscopic analysis of long-term cell cultures.

A distinction is made between "GENETIC BASIC CONSULTANCY" and "GENETIC CONSULTANCY". human genetic counselling in the narrower sense. The latter is meant here. It is carried out by a specialist in human genetics. Such a consultation can provide general information, e.g. about the various options for prenatal diagnostics at an older maternal age. However, it is often about a very specific problem, such as an abnormal finding in the amniocentesis or particularities in the family history.

Human genetic counselling has two main objectives:

1. make the patient's initial situation and the medical problem understandable and transparent, and thus
2. to enable informed and individualised decisions in family planning and the selection of prenatal measures.

The detailed counselling interview always results in a written statement that is easy for the patient to understand. This ensures that the often complex content of the counselling session remains available and comprehensible to those seeking advice in the long term.

This is a detailed consultation, which begins with clarification of the question. The specialist in human genetics then records the personal and family medical data. Sometimes a specific physical examination is also carried out - for example, if the patient or a child in the family has a congenital physical deformity.

The actual consultation makes up the second part of the session. Here the doctor explains his or her assessment of the situation and points out possible ways of proceeding. Sometimes this part of the human genetic counselling has to be moved to a second appointment - for example, if important preliminary findings have to be requested or genetic laboratory tests have to be carried out.

If such laboratory tests are required, a blood sample will be taken after the initial consultation.

The final point of each human genetic counselling is a detailed written statement that is sent to the attending physicians and the patients.

The following are the most common reasons for a Human genetic counselling during pregnancy. Our reception will be happy to help you if you are unsure whether such counselling is appropriate for you.

• older age of the pregnant woman - especially if a particularly detailed explanation of the alternative methods of prenatal diagnostics is desired
• Abnormal findings in the amniocentesis or chorionic biopsy
• Abnormal findings in the ultrasound examination of the unborn child
• Abnormal findings in certain blood tests of the pregnant woman
• Taking medication during pregnancy
• Radiation exposure during pregnancy
• Consumption of alcohol or drugs during pregnancy
• certain illnesses of the pregnant woman or the father of the child
• Congenital diseases / disabilities in the family

Below is a list of the most common reasons for undergoing human genetic counselling prior to a pregnancy. Our reception will be happy to help you if you are unsure whether such counselling makes sense for you.

• involuntary childlessness - especially if certain artificial insemination measures are being considered
• Previous miscarriages or stillbirths
• previous birth of a child with a malformation or other congenital developmental disorder
• Carrier of a chromosomal abnormality in the woman or man
• Transmission of a hereditary disease by the woman or the man
• certain chronic diseases of the woman or man
• a past cancer treatment of the woman or man
• Permanent need for the woman to take medication
• Congenital / hereditary diseases in the family of one of the partners
• Blood relationship between the partners

The costs of human genetic counselling are generally covered by the statutory health insurance funds, private health insurance companies and public aid offices. The prerequisite is always that there is a medical necessity.

If it is foreseeable that your insurer will not or only partially cover the costs of a human genetic counselling session or the laboratory tests that have been ordered as a result, the doctor will inform you of this.

The reimbursement behaviour of the private health insurers and the financial aid offices for genetic services is inconsistent and not always comprehensible for us. Please understand that the human genetics counselling doctor cannot vouch for the reimbursement behaviour of your insurer.

This is possible in principle, but the following must be taken into account: During a puncture to collect amniotic fluid or chorionic villi, it is possible that a small amount of the child's blood may enter the mother's bloodstream. If this happens, antibodies against rhesus-positive blood cells may be formed, which in turn could lead to anaemia for the child. To rule out this risk, an expectant mother must be immunised with anti-D immunoglobulins after a puncture.

1. Due to the different application of the fee framework, considerable differences are also possible for liquidations for privately insured patients. In accordance with the model professional code, the doctor making the payment must take into account the financial circumstances of the patient liable to pay. Consequently, both upward and downward adjustments are possible.
2. Most patients who make use of a self-payer service are members of a statutory health insurance scheme. Accordingly, these patients generally do not reach the income levels required for membership of a private health insurance scheme. In most cases, these patients are also unable to claim reimbursement from a private health insurer based on previous contributions. In our opinion, this results in a reduction in fees as described in the first paragraph.
3. Most of the self-pay services we offer are not reimbursable in accordance with Section 12 Volume V of the German Social Security Code.