Special malformation diagnostics / echocardiography
This investigation is considerably more extensive than the ultrasound which is specified in maternity guidelines. It provides comprehensive images and, according to current knowledge, does not cause any harm to mother and child, even with repeated use. A multitude of fetal malformations illnesses can be detected and also excluded with the help of ultrasound diagnostics.
However it must be specifically pointed out that that even with modern equipment, the doctor's experience and great care taken, not all malformations and illnesses can be detected. A further component of this investigation is fetal echocardiography. Using this, we can assess the position, size and symmetry of the heart, the anatomy of the heart structure, heart valve function, heart rate and the position of the large vessels.
Colour-coded Doppler sonography
Doppler sonography offers a particularly detailed investigation of the uterine and fetal-placental blood stream (the blood flow between the womb and placenta and placenta and fetus). Using this method, the direction and speed of the blood flow can be measured with the help of ultrasound waves (haemodynamics).
We use this additional method in late pregnancy when there is suspicion of an acute or chronic deficiency in the unborn child.
3D/4D-Ultrasound
More and more parents are interested in the fascinating images that this technique provides. The graphic, 3-dimensional portrayal of the face and other parts of the body are achieved by fast processing of special image reconstructions. Individual organs and "vascular trees" can be visualised from all sides. Many thin section planes (2D) are merged into a three dimensional image in the ultrasound machine's computer. First and foremost, it gives us the change to gain other complementary details, in addition to those provided by the other ultrasound methods.
Early malformation scan with first trimester screening
Many early malformations can be excluded with this ultrasound examination (early malformation scan). By measuring the fetal nuchal translucency (a collection of fluid under the skin at the back of a baby's neck) we can estimate the risk of trisomy of chromosome 21 (Down's syndrome). The significance of this test is increased with an examination of the baby's nasal bone and the maternal blood (PAPP-A and free ß-HCG).
| Factors included |
Discovery rate for Down's syndrome
|
| Age |
40% |
| free-ßHCG / PAPP-A (11/0-13/6 weeks) |
65% |
| Nuchal translucency (NT) |
80% |
| NT + free-ßHCG + PAPP-A |
90% |
Interdisciplinary cooperation
Treatment possibilities as well as diagnostics and advice are part of the field of prenatal medicine, even before the birth. Treatment which is necessary for the affected baby after the birth can be optimally planned before delivery where necessary. Personal consultations with the doctors who will look after the baby after delivery form a considerable part of this. We involve experts from other medical specialities, such as paediatricians or cardiologists when necessary. Should you need to come to a decision, we will offer you every necessary support.
Amniocentesis
This additional investigation is not part of routine pregnancy check-ups and is accompanied by extensive counselling in our practice. Using this method, chromosomal abnormalities, neural tube closure defects ("open back") and - under certain conditions - genetic disorders can be detected, for example. The amniotic fluid removed during the test completely reforms within 24 hours. To give you an initial indication of the results whilst waiting for the final test results, we can also offer you a quick test (PCR or FISH).
Chorionic villus sampling (Placentesis)
Because the placenta (known as the chorion in early pregnancy) originates from the same fertilised egg as the fetus. Cells can be removed for analysis of the baby's chromosomes.
The test is useful when there are noticeable problems with the embryo in the ultrasound image, for high-risk patients as part of first-trimester screening, for hereditary disorders or metabolic disease in the family or if you have an explicit request after an early diagnosis.
Umbilical cord blood sampling / Intrauterine blood transfusion
Umbilical cord blood sampling is only performed in certain situations, for example blood group incompatibility, infection during pregnancy, fetal anaemia, where there is suspicion of metabolic disease in the baby and where there are noticeable problems seen on ultrasound in the later weeks of gestation. About 2mls of the baby's blood are removed. This procedure can only be carried out after 18 weeks of gestation. In certain circumstances, medication or blood products can be fed into the baby's circulation (intrauterine transfusion).
Amnioinfusion
If the volume of the amniotic fluid is low, the visibility and therefore the diagnostic presentation of the unborn child is considerably reduced (more amniotic fluid = better ultrasound capacity). The amniotic sac is filled up with more fluid using a hollow needle. After topping up the amniotic fluid, not only can the surface of the fetus be observed better, but also normal functions such as stomach- and bladder-filling.
Organ biopsy
Puncture of fetal organs is performed if material is needed for clarification of certain illnesses. This is normally done for tests on fluids, for example, a collection of fluid in the fetal thoracic cavity (hydrothorax) or in the abdominal area (ascites), for ovarian cysts or other cysts in the body. The puncture and drainage of a cyst is usually also the treatment. If sufficient fetal cells are found in the fluid obtained, an additional fetal chromosomal analysis can be performed.
Gynaecological sonography
We offer a wide range of 2D and 3D gynaecological ultrasound examinations, for example abdominal and vaginal ultrasound of the female pelvic area with imaging of the uterus, endometrium, adnexa (ovaries and possibly the fallopian tubes). A completely new 4D transvaginal probe gives improved diagnostic reliability for complex gynaecological examinations. Colour Doppler and Doppler sonography are used to visualise the blood vessel supply of borderline benign/malignant tumours.
PAPP-A and free ß-HCG (Double Test)
PAPP-A (pregnancy-associated plasma protein A) and free ß-HCG (part of the pregnancy hormone HCG) are produced in the placenta and can be measured in the maternal blood as part of the Double Test in the first trimester.
PAPP-A is reduced and free ß-HCG is raised in fetuses with Down's syndrome. The blood test should be performed before or close to the ultrasound scan.
Used together with nuchal translucency and maternal age, around 90% of all fetuses with Down's syndrome can be identified. A misleading high risk is reported in about 5% of tests, although there is no chromosomal abnormality.
The test does not give a diagnosis, but a statistical risk of the baby having Down’s syndrome. The risk is based on the maternal age, the nuchal translucency thickness and the concentration of free β-HCG and PAPP-A in the maternal blood.
Triple-Test (from 15+0 WG)
The Triple Test provides a risk assessment for Down’s syndrome, based on your maternal and gestational age, your previous history and three biochemical markers in the blood (free estriol, ß-HCG and AFP [Alpha fetoprotein]).
Some mothers who are expecting a child with Down's syndrome will have reduced levels of AFP and free estriol, and an increased level of ß-HCG.
At approximately 60%, the detection rate is low compared to first trimester screening. However, an advantage is the identification of neural tube defects. It is suitable for women who decide to have a risk assessment performed later in pregnancy.
AFP-measurement in blood
AFP (Alpha fetoprotein) is produced by a particular tissue in the unborn child (the interior blastoderm layer of the embryoblast). A significantly raised AFP level can indicate an open malformation of the abdominal wall (e.g. gastroschisis) or the neural tube (neural tube defect such as open spina bifida), as in these cases, AFP reaches the amniotic fluid and passes into the maternal blood. Consequently there is an increased AFP concentration in the amniotic fluid which eventually passes into the circulatory system of the mother, also in increased concentrations. |
