Polar Body Diagnosis (PBD)

Polar body diagnosis (PBD) enables genetic testing of the retrieved oocyte during in vitro fertilization (IVF/ICSI). Polar bodies are formed during meiotic division and encapsulated as chromosomal surplus. This minimally invasive diagnostic method is used to examine maternal genetic information and can be employed to detect numerical chromosomal abnormalities (aneuploidies) or known disease-causing mutations.

ANEUPLOIDY SCREENING ON POLAR BODIES

Aneuploidy screening on polar bodies allows oocytes to be indirectly tested for numerical chromosomal abnormalities (aneuploidies) during IVF. In contrast to trophectoderm cell testing, only maternally inherited genetic alterations can be detected. In Austria, polar body diagnosis is not considered preimplantation genetic diagnosis within the meaning of the Reproductive Medicine Act and is therefore subject to less stringent legal regulations than aneuploidy screening on trophectoderm cells.

Information About the Test

  • Analysis of polar bodies for numerical chromosomal abnormalities (PGT-A)
  • Detection of maternally inherited alterations
  • Indication according to § 2a FMedG not mandatory

In aneuploidy screening on polar bodies, the DNA of the first and second polar body is first amplified by whole genome amplification (WGA). Subsequently, analysis is performed using array-CGH to identify gains and losses of entire chromosomes as well as chromosomal segments. Typically, chromosomal alterations of 10 megabases or larger can be reliably detected. This analysis enables conclusions about the genetic information that remained in the oocyte and was passed on from the mother to the oocyte.

Indications

Aneuploidy screening on polar bodies is primarily recommended for women of advanced age, in cases of recurrent miscarriages, or after unsuccessful IVF attempts.

Request Test

  • Sample material: Polar body biopsies in 2.5µl PBS (sent in 0.2 ml PCR tubes)
  • Test method: WGA and array-CGH
  • Turnaround time: from 26h after sample receipt (provided sample notification the day before and sample receipt before 10:00)
  • Required documents:

Detailed information on sample submission can be found here.

Monogenic Diagnosis on Polar Bodies

Polar body diagnosis can also be used to test for known monogenic diseases within a family. Analysis of polar bodies allows indirect conclusions as to whether an oocyte carries a disease-causing allele or whether carrier status can be excluded. The prerequisite is that the genetic disease is known and the specific mutation is clearly identified. In addition, the analysis must be appropriately prepared by the laboratory through a prior segregation analysis.

Information About the Test

Polar body diagnosis for monogenic diseases is a highly specialized and complex test. In this area, HLN-Genetik works closely with the private practice of Prof. Dr. F. Laccone.

Prof. Dr. Laccone provides comprehensive counseling and care for patients and coordinates the entire process. The test is individually planned for each couple and all analysis steps are carefully reviewed multiple times.

Thanks to our precise approach, we have an extremely low rate of oocytes or embryos with inconclusive test results and have helped numerous families have a healthy child since 2015.

For inquiries and further coordination, please contact us directly. We are happy to provide you with all necessary information and initiate further steps.

Request Test

Since polar body diagnosis for a monogenic disease always involves an individual complex question, please contact us directly before sending a sample.

We are happy to provide you with all necessary information and initiate further steps.

Back