NIPT Pregnancy Loss – pregnancy loss cause investigation (trisomies 21, 18, and 13 + X, Y aneuploidies + large deletions and duplications + analysis of aneuploidies of all other chromosome pairs + sex)

Chromosomal abnormalities and spontaneous miscarriage

Both numerical and structural chromosomal abnormalities are the most common cause of spontaneous miscarriage. Balanced structural chromosomal abnormalities can cause recurrent miscarriages, so identifying such anomalies during the first miscarriage is especially important when planning another pregnancy. Cytogenetic tests of tissues taken after miscarriage are characterized by a high rate of inconclusiveness due to contamination of fetal tissues with maternal tissues and cell culture failures. PregnancyLoss

After a miscarriage, the placental tissue continues to release free (non-cellular) DNA fragments into the mother's bloodstream for some time. Therefore, after confirming a miscarriage by ultrasound, it is still possible to perform non-invasive fetal DNA analysis, even if the fetal DNA fraction is very low - this is enabled by a special Veritas algorithm. The examination of fetal genetic material for aneuploidies and large deletions and duplications larger than 7Mb provides essential information for genetic counseling when a woman experiences a miscarriage, avoiding the need for miscarriage tissue culturing.

Recommendation on when to perform the test: as soon as possible after a miscarriage is detected and definitely before a curettage procedure. A blood sample can be taken when the gestational age has reached at least 5 weeks (calculated from the date of the last menstrual period).

Sample: blood.

Processing time after arrival at the lab: 2-4 business days.