Optima Extended molecular karyotyping of abortifacient material
Molecular karyotyping is an advanced genetic diagnostic method aimed at detecting abnormalities in the chromosomal structure of the fetus. The technique involves analyzing DNA extracted from embryonic tissue. This approach enables the identification of potential genetic causes of spontaneous miscarriage, missed miscarriage, recurrent pregnancy loss, or stillbirth.
Thanks to the use of microarray-based comparative genomic hybridization (aCGH), this test enables the detection of not only numerical chromosomal abnormalities but also subtle (submicroscopic) structural variations, including copy number variations (CNVs). It also allows for the identification of complete or partial molar pregnancy, a rare trophoblastic disorder.
When is this test indicated?
- Confirmed missed miscarriage (from 6 weeks of gestation)
- Spontaneous pregnancy loss
- Intrauterine fetal demise
- Stillbirth
- Pregnancy termination for medical reasons
- Recurrent pregnancy loss (multiple fetal losses)
What does the test provide for the patient and physician?
- Accurate identification of the chromosomal abnormality that led to reproductive loss
- Assessment of the risk of recurrence in future pregnancies
- Diagnosis of hydatidiform mole (molar transformation)
- Possibility of referring the couple for consultation with a medical geneticist
- Assistance in determining the best approach for preparing for a future pregnancy
- Elimination of unnecessary diagnostic and therapeutic interventions
Important Information:
The test does not allow for the detection of balanced chromosomal rearrangements (e.g., inversions/translocations), as these do not result in a net gain or loss of chromosomal material. This method does not detect configurational anomalies unless they are accompanied by a deletion or duplication of DNA segments.
Biological material: chorionic villi, embryonic tissues, fragments of the gestational sac (products of conception). Storage conditions: the material shall be placed in a sterile container with 0.9% saline solution (NaCl).
Temperature requirements: between +4 to +8 °C. Freezing the material is strictly prohibited.
Time to completion: 12 business days