It is estimated that spontaneous miscarriage occurs in 8–20% of confirmed pregnancies. Embryonic/foetal chromosomal aberration is the most frequent reason for pregnancy losses (approx. 75%).
The array comparative genomic hybridization (aCGH) is the most effective method to identify chromosomal aberrations in the material from spontaneous miscarriage because it can detect all of the unbalanced aberrations, including submicroscopic deletion and duplication, which cannot be detected by any other cytogenetic methods.
The microarray-based CGH (aCGH) studies of materials from spontaneous miscarriages hitherto conducted have revealed that trisomies (mainly trisomies 16, 18 and 22), which occur mainly as a result of errors during maternal meiosis, account for over a half of chromosomal aberrations detected in miscarried embryos. X chromosome monosomy is another frequently detected chromosomal aberration. Other causes responsible for miscarriages include foetal structural chromosomal aberrations – deletions (most common: 1p36.13; 2p11.2; 3q29; 13q12.11) or duplications (most frequent: 8q12.1; 15q11.11q11.12; Xq22.2), as well as submicroscopic complex genomic rearrangements.
The aCGH test quickly identifies the cause of miscarriage and provides information on prognosis for future pregnancies. The possibility of detecting submicroscopic genomic rearrangements is particularly important, as such rearrangements may be caused by an balanced aberration in one of the parents, which entails a risk that aberrations will occur in the subsequent pregnancy.
This test does not detect foetal 69, XXX polyploidy. If suspected, a rapid-FISH test is recommended.
The test is conducted on a fragment of chorionic villus sampled by a gynaecologist while cleaning the uterine cavity.
The biological material should be kept in a saline solution at 4°C until dispatched. A container with the sample should be sent to the Cytogenetic Laboratory of the Medical Genetics Department by expedited post, in ambient temperature.
Waiting time for the test result: 3-4 weeks
Material : fragment of chorionic villus
Price: 1600 PLN
Detailed information available at: +48 22 32 77 191
Documents:
Instructions
for taking material for testing:
download
PDF
Referral for test and declaration of informed consent: download PDF
The test fee can be paid directly at the Institute’s cash desk or by transfer to a bank account ALIOR BANK 81 2490 0005 0000 4600 8807 9430.
*The genetic analysis in chorionic villus from spontaneous miscarriage
The histopathological analysis in chorionic villus from spontaneous miscarriage is the first step before starting the genetic analysis. It is necessary to deliver results of histopathological analysis or payment 45 PLN for this analysis in Pathomorphological Department in the Institute of Mother and Child.