Special Obstetrics and Prenatal Diagnostics
Advanced obstetric ultrasound
What is Prenatal Diagnostics?
Prenatal diagnostics involve examinations conducted before birth to specifically detect disabilities, malformations, and other fetal diseases.
We consider ultrasound to be the backbone of prenatal diagnostics.
To provide you with the highest level of examination accuracy, the desired examination should be performed at an optimal time.
Below is an overview.
Special Ultrasound Diagnostics
Early anatomy scan and early echocardiogram (12+0 to 13+6 weeks of gestation)
Under favorable examination conditions, early anatomy scan and echocardiogram can exclude a majority of malformations, including heart defects.
Examination conditions (fetal position, thickness of the maternal abdominal wall, bladder fullness) can significantly affect the reliability of this examination.
The optimal time for this test is between 12+0 and 13+6 weeks of gestation.
However, early anatomy scan does not replace an examination in the second trimester. A follow-up examination of the fetal heart between the 20th and 22nd weeks of gestation is recommended, as some heart defects can still develop in utero.
Parents are additionally given the opportunity to gain a comprehensive understanding of their individual risk in this pregnancy, along with counseling on further options for invasive and non-invasive genetic testing."
Non-Invasive Prenatal Test (NIPT)
NIPT is a test for placental cell-free DNA in maternal blood (e.g., Harmony Test, PraenaTest, VeriSeq, etc.).
Since 2012, this test has been available in Germany, enhancing non-invasive prenatal diagnostics concerning the most common chromosomal anomalies. NIPT can detect a high proportion, but not all cases, of trisomies 13, 18, and 21, as well as a significant number of anomalies in the number of sex chromosomes. Currently, further applications (single gene defects, rare aneuploidies, absence or multiplication of various chromosome regions) are being offered.
NIPT does not replace ultrasound diagnostics, amniocentesis, or chorionic villus sampling but complements other non-invasive tests (especially ultrasound) with very high detection rates for the most common chromosomal anomalies.
Since false-positive results can occur, an abnormal or positive NIPT result must be confirmed through an invasive diagnostic procedure (amniocentesis or chorionic villus sampling).
For a prompt appointment in the special consultation hours of PD Dr. med. Takacs, it is best to write us an email.
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