The term “prenatal diagnostics” refers to tests performed during pregnancy. These tests are designed to identify risks to the pregnant woman and her unborn child at an early stage. Diagnostics are primarily performed using ultrasound. In specific cases where there is cause for concern, a diagnostic procedure (e.g., amniocentesis) may be helpful for further evaluation.
Below you will find additional information as well as a selection of specialists in prenatal diagnostics.
Prenatal diagnostics involves testing an unborn child in the womb. It is used to detect various risks at an early stage.
Various tests are available, such as
Three ultrasound examinations are an integral part of prenatal care. In addition, there are other useful tests.
One diagnostic test that many pregnant women undergo is first-trimester screening.
This screening has several objectives:
During the ultrasound, the gynecologist measures the fetus from crown to rump. This allows the doctor to monitor the growth of the unborn child and determine the gestational age. The doctor checks the fetal heart rate and examines whether organs such as the limbs or the heart are properly formed and developing.
Even at this early stage, more than half of all structural abnormalities can be detected by an experienced practitioner.
Ultrasound is a proven method for examining an unborn child in the womb © Peakstock | AdobeStock
The measurement of fetal nuchal translucency (NT) takes place between 11+0 and 13+6 weeks of gestation. It plays a central role in first-trimester screening.
Essentially, it refers to a collection of fluid under the skin in the nuchal region of the fetus. It is present in all fetuses and is not considered an abnormality. However, if the fluid layer is thickened, the risk of a fetal abnormality increases.
An increased nuchal translucency (NT) is associated with a higher probability of
However, it is never definitive proof of a problem and requires further testing. In combination with the mother’s age and hormone levels from her blood, a statistical risk assessment can be performed. When performed carefully, this risk assessment can indicate the presence of trisomy with 95 percent accuracy.
Normal nuchal translucency result at 12+5 weeks of gestation
In recent years, blood tests using cell-free DNA have also become established. These tests also allow for screening for trisomies 21, 13, and 18, as well as for sex chromosomes.
The detection rates for trisomies are slightly higher than with conventional first-trimester screening (97–99%).
Here, too, there are false-positive and false-negative test results. Furthermore, the test does not cover the full spectrum of possible chromosomal abnormalities. For this reason, the test alone should not be considered a definitive diagnosis. When combined with a qualified ultrasound, this test is a good diagnostic option.
The blood test currently involves additional costs for expectant parents. Furthermore, in 2–3% of cases, the test yields no result.
Chorionic villus sampling (CVS), a diagnostic procedure involving the aspiration of early placental tissue, is used for the early detection of chromosomal abnormalities. The test can also detect single-gene disorders, such as hereditary metabolic or muscular disorders known to run in the family. It is performed starting in the 11th week of pregnancy.
In this diagnostic procedure, the doctor inserts a fine hollow needle through the abdominal wall and the wall of the pregnant woman’s uterus. Using this, the doctor extracts cellular tissue from the developing placenta. From this sample, fetal cells are isolated in the laboratory and examined for their chromosomal makeup.
The results of chorionic villus sampling are reliable. In very rare cases (<1%), findings (e.g., mosaicism) may occur that require a repeat procedure for definitive clarification.
In exceptional cases, the removal of fetal cells can lead to contractions or rupture of the amniotic sac, potentially causing a miscarriage. When performed by an experienced practitioner, this risk is 0.2%, which is within the range of the natural miscarriage rate.
Amniocentesis can be performed starting in the 16th week of pregnancy. Here, too, the doctor uses a hollow needle to collect a sample.
Under ultrasound guidance, the doctor inserts the hollow needle into the amniotic sac and withdraws a small amount of amniotic fluid. The amniotic fluid contains cells from the unborn child, which are examined in the laboratory for abnormalities.
When performed by an experienced practitioner, the risk of miscarriage is 0.1%.
Umbilical cord puncture (chordocentesis) allows doctors to examine the blood of the unborn child.
The doctor inserts a fine hollow needle into the pregnant woman’s abdomen and draws a small amount of blood from the umbilical vein. This procedure is painless for the baby. The exact composition of the blood is analyzed in the laboratory.
This diagnostic procedure is primarily used to detect:
Furthermore, unclear chromosomal findings following an amniocentesis can be verified using umbilical cord puncture.
In one out of every hundred women, umbilical cord puncture can trigger a miscarriage. For this reason, this diagnostic procedure should only be performed when there is concrete suspicion and by an experienced practitioner.
Every physician listed in the Leading Medicine Guide has attained the highest level of training and certification within their respective medical specialty society. Furthermore, we contacted this physician based, among other factors, on their case volume (surgeries, treatments, and therapies), which we determined by cross-referencing various publicly available sources. Following discussions with the selected physicians and the directors of the medical facilities, as well as a subsequent internal review, they were admitted to the Leading Medicine Guide.
The quality assurance of the Leading Medicine Guide is further ensured by 8 admission criteria. Each member must meet at least 6 of them:
