Literature DB >> 28573747

Triploidy - variability of sonographic phenotypes.

Diana Massalska1, Julia Bijok1, Alicja Ilnicka2, Grzegorz Jakiel1, Tomasz Roszkowski1.   

Abstract

OBJECTIVES: To analyze sonographic abnormalities in triploid pregnancies and assess the usefulness of the classification proposed by McFadden and Kalousek for prenatal sonographic assessment of triploid fetuses.
METHODS: We conducted a retrospective analysis of the sonographic features in a series of 67 triploid fetuses evaluated between 11 and 30 weeks of gestation in a single referral center between 1997 and 2015.
RESULTS: Non-specific structural fetal defects were visualized in the majority of fetuses (61.2%) regardless of the parental origin of the triploidy. A 'diandric phenotype' was identified in eight relatively well-grown fetuses (11.9%) that presented with cystic placentas. A 'digynic phenotype' was identified in 47 asymmetrically growth-restricted fetuses with non-cystic placentas (70.2%). In 12 cases (17.9%), features of both phenotypes were present.
CONCLUSIONS: Nearly 40% of triploid fetuses do not have any apparent structural abnormalities, and only careful assessment of fetal growth and placenta may lead to the suspicion of the diagnosis. As diandric triploidy carry a high risk for maternal complications, identification of these cases is vital for prenatal counseling. In nearly 20% of triploid pregnancies, parental origin cannot be established based on sonographic assessment.
© 2017 John Wiley & Sons, Ltd. © 2017 John Wiley & Sons, Ltd.

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Year:  2017        PMID: 28573747     DOI: 10.1002/pd.5080

Source DB:  PubMed          Journal:  Prenat Diagn        ISSN: 0197-3851            Impact factor:   3.050


  4 in total

Review 1.  A system-based approach to the genetic etiologies of non-immune hydrops fetalis.

Authors:  Anne H Mardy; Shilpa P Chetty; Mary E Norton; Teresa N Sparks
Journal:  Prenat Diagn       Date:  2019-06-26       Impact factor: 3.050

2.  Prenatal diagnosis of acrania/exencephaly/anencephaly sequence (AEAS): additional structural and genetic anomalies.

Authors:  Julia Bijok; Sylwia Dąbkowska; Anna Kucińska-Chahwan; Diana Massalska; Beata Nowakowska; Sylwia Gawlik-Zawiślak; Grzegorz Panek; Tomasz Roszkowski
Journal:  Arch Gynecol Obstet       Date:  2022-05-12       Impact factor: 2.344

3.  Prenatal sonographic features can accurately determine parental origin in triploid pregnancies.

Authors:  Malou A Lugthart; Judith Horenblas; Emily C Kleinrouweler; Melanie Engels; Alida C Knegt; Karin Huijsdens; Elisabeth van Leeuwen; Eva Pajkrt
Journal:  Prenat Diagn       Date:  2020-03-03       Impact factor: 3.050

4.  Distribution of diandric and digynic triploidy depending on gestational age.

Authors:  Diana Massalska; Katarzyna Ozdarska; Tomasz Roszkowski; Julia Bijok; Anna Kucińska-Chahwan; Grzegorz Mieczysław Panek; Janusz Grzegorz Zimowski
Journal:  J Assist Reprod Genet       Date:  2021-05-13       Impact factor: 3.412

  4 in total

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