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First trimester pregnancy loss: Clinical implications of genetic testing
Author(s) -
Massalska Diana,
Zimowski Janusz Grzegorz,
Bijok Julia,
Pawelec Magdalena,
CzubakBarlik Małgorzata,
Jakiel Grzegorz,
Roszkowski Tomasz
Publication year - 2017
Publication title -
journal of obstetrics and gynaecology research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.597
H-Index - 50
eISSN - 1447-0756
pISSN - 1341-8076
DOI - 10.1111/jog.13179
Subject(s) - miscarriage , medicine , genetic testing , obstetrics , context (archaeology) , genetic counseling , pregnancy , products of conception , chorionic villus sampling , abortion , robertsonian translocation , gynecology , first trimester , karyotype , gestation , genetics , biology , chromosome , paleontology , gene
Around 10–15% of pregnancies result in a spontaneous first trimester miscarriage, which is most frequently caused by chromosomal abnormalities, mainly aneuploidies. Genetic analysis of pregnancy loss includes conventional G‐banding karyotyping and various molecular methods. Apart from variable methodological limitations, the effectiveness of genetic analysis depends on the type and quality of the tested sample. To improve the reliability of genetic testing, we present methods of appropriate collection and pre‐laboratory preparation of chorionic villi from first trimester miscarriage. We also discuss issues of maternal cell contamination, placental mosaicism and reciprocal and Robertsonian translocations in the context of interpretation of the results and genetic counseling.