Karyotypic fetal abnormalities exceed 50% of spontaneous first trimester miscarriages.
Chromosomal Testing (Karyotype)
It is reported that karyotypic abnormalities of the fetus exceed 50% of the first trimester spontaneous miscarriages. However, most of the times no diagnostic abrasion is performed and thus no material is obtained for examination of Karyotypic Analysis of miscarriages Products. When serial miscarriages have happened, it is important to be determined if the cause concerns karyotype abnormalities or not. Usually in cases with abnormal embryos nature acts properly, rejecting the embryos and effectively protecting the population from abnormal organisms by birth. These pregnancies cannot be saved. They usually affect older women and there is no way to prevent them from recurring.
The karyotypic abnormalities with chromosomal permutations or other related lesions of the prospective parents are an important part of the couple’s investigation into both a history of infertility and spontaneous miscarriages. Usually in these couples the pre–implantation of the embryos with a process of assisted reproduction is recommended, in order to exclude abnormal embryos.
Woman / Couple Chromosomal Test
Woman’s peripheral blood karyotype
Couple’s peripheral blood karyotype
Fetal Chromosomal / Genetic Testing
Amniotic fluid / chorionic villi karyotype
Amniotic fluid / chorionic villi karyotype, QF–PCR, detection of delF508 mutation
Amniotic fluid / chorionic villus sampling karyotype, QF–PCR, detection of delF508 and MLPA 21 mutation (detection of 21 micro–deficiencies or micro-duplications)
NIPT – Non–invasive prenatal testing from the mother’s blood