title: First trimester pregnancy loss: Clinical implications of genetic testing.
abstract: 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.
authors.affiliation: I Department of Obstetrics and Gynecology, Professor Witold Orlowski Clinical Hospital, Centre of Postgraduate Medical Education, Warsaw, Poland.
authors.forename: Diana
authors.initials: D
authors.lastname: Massalska
authors.affiliation: Department of Genetics, Institute of Psychiatry and Neurology, Warsaw, Poland.
authors.forename: Janusz Grzegorz
authors.initials: JG
authors.lastname: Zimowski
authors.affiliation: I Department of Obstetrics and Gynecology, Professor Witold Orlowski Clinical Hospital, Centre of Postgraduate Medical Education, Warsaw, Poland.
authors.forename: Julia
authors.initials: J
authors.lastname: Bijok
authors.affiliation: Department of Genetics, Institute of Psychiatry and Neurology, Warsaw, Poland.
authors.forename: Magdalena
authors.initials: M
authors.lastname: Pawelec
authors.affiliation: Department of Pathology, Professor Witold Orlowski Clinical Hospital, Centre of Postgraduate Medical Education, Warsaw, Poland.
authors.forename: Małgorzata
authors.initials: M
authors.lastname: Czubak-Barlik
authors.affiliation: I Department of Obstetrics and Gynecology, Professor Witold Orlowski Clinical Hospital, Centre of Postgraduate Medical Education, Warsaw, Poland.
authors.forename: Grzegorz
authors.initials: G
authors.lastname: Jakiel
authors.affiliation: I Department of Obstetrics and Gynecology, Professor Witold Orlowski Clinical Hospital, Centre of Postgraduate Medical Education, Warsaw, Poland.
authors.forename: Tomasz
authors.initials: T
authors.lastname: Roszkowski
mesh_terms: D000022:Abortion, Spontaneous / Q000235:genetics*; D015193:Chorionic Villi Sampling; D025063:Chromosome Disorders / Q000175:diagnosis*; D015342:DNA Probes; D005260:Female; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D007621:Karyotyping / Q000379:methods; D011247:Pregnancy; D011261:Pregnancy Trimester, First / Q000235:genetics*
chemical_list: D015342:DNA Probes
keywords: genetic analysis; miscarriage; molecular testing; pregnancy loss