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Triploid pregnancy-Clinical implications.
Massalska, Diana; Bijok, Julia; Kucinska-Chahwan, Anna; Zimowski, Janusz Grzegorz; Ozdarska, Katarzyna; Panek, Grzegorz; Roszkowski, Tomasz.
Affiliation
  • Massalska D; Department of Gynecologic Oncology and Obstetrics, Centre of Postgraduate Medical Education, Warsaw, Poland.
  • Bijok J; Department of Gynecologic Oncology and Obstetrics, Centre of Postgraduate Medical Education, Warsaw, Poland.
  • Kucinska-Chahwan A; Department of Gynecologic Oncology and Obstetrics, Centre of Postgraduate Medical Education, Warsaw, Poland.
  • Zimowski JG; Department of Genetics, Institute of Psychiatry and Neurology, Warsaw, Poland.
  • Ozdarska K; Department of Genetics, Institute of Psychiatry and Neurology, Warsaw, Poland.
  • Panek G; Department of Gynecologic Oncology and Obstetrics, Centre of Postgraduate Medical Education, Warsaw, Poland.
  • Roszkowski T; Department of Gynecologic Oncology and Obstetrics, Centre of Postgraduate Medical Education, Warsaw, Poland.
Clin Genet ; 100(4): 368-375, 2021 10.
Article in En | MEDLINE | ID: mdl-34031868
Triploidy is a life-limiting genetic aberration resulting from an extra haploid set of chromosomes of paternal (diandric triploidy) or maternal origin (digynic triploidy). Triploidy affects around 1%-2% of all conceptions. The majority of cases is miscarried at early developmental stages. In consequence of genomic imprinting, parental origin affects the phenotype of triploid pregnancies as well as the prevalence and spectrum of related maternal complications. Distinctive ultrasound features of both triploid phenotypes as well as characteristic patterns of biochemical markers may be useful in diagnosis. Molecular confirmation of the parental origin allows to predict the risk of complications, such as gestational trophoblastic neoplasia, hyperthyroidism, hypertension, or preeclampsia associated with the paternal origin of triploidy. Diagnosis of partial hydatidiform mole associated with diandric triploidy is challenging especially in the first trimester pregnancy loss due to the limitations of both histopathology and ultrasound. We present important clinical aspects of triploid pregnancies and indicate unresolved issues demanding further studies.
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Abortion, Spontaneous / Chromosome Disorders / Triploidy Type of study: Diagnostic_studies / Prevalence_studies / Prognostic_studies / Risk_factors_studies / Systematic_reviews Limits: Female / Humans / Pregnancy Language: En Journal: Clin Genet Year: 2021 Document type: Article Affiliation country: Poland Country of publication: Denmark

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Abortion, Spontaneous / Chromosome Disorders / Triploidy Type of study: Diagnostic_studies / Prevalence_studies / Prognostic_studies / Risk_factors_studies / Systematic_reviews Limits: Female / Humans / Pregnancy Language: En Journal: Clin Genet Year: 2021 Document type: Article Affiliation country: Poland Country of publication: Denmark