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Prenatal sonographic features can accurately determine parental origin in triploid pregnancies. / Lugthart, Malou A.; Horenblas, Judith; Kleinrouweler, Emily C. et al.

In: Prenatal diagnosis, Vol. 40, No. 6, 01.05.2020, p. 705-714.

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Lugthart MA, Horenblas J, Kleinrouweler EC, Engels M, Knegt AC, Huijsdens K et al. Prenatal sonographic features can accurately determine parental origin in triploid pregnancies. Prenatal diagnosis. 2020 May 1;40(6):705-714. Epub 2020 Feb 10. doi: 10.1002/pd.5666

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Lugthart, Malou A. ; Horenblas, Judith ; Kleinrouweler, Emily C. et al. / Prenatal sonographic features can accurately determine parental origin in triploid pregnancies. In: Prenatal diagnosis. 2020 ; Vol. 40, No. 6. pp. 705-714.

BibTeX

@article{4dcae3c90ab745988d1606cadc6d04bf,
title = "Prenatal sonographic features can accurately determine parental origin in triploid pregnancies",
abstract = "Objective: To describe the prenatal sonographic features and maternal biochemical markers in triploid pregnancies and to assess whether prenatal phenotype can determine genetic origin. Methods: We performed a retrospective multicenter cohort study that included all triploid pregnancies diagnosed between 2000 and 2018 in two Fetal Medicine Units in Amsterdam. Fetal growth, presence of structural anomalies, extra-fetal anomalies, and maternal biochemical markers were retrieved. Asymmetrical intrauterine growth restriction was diagnosed when the head-to-abdominal circumference (HC/AC) ratio was >95th centile. Parental origin was analyzed via molecular genotyping in 46 cases (38.3%). Results: One hundred and twenty triploid pregnancies were identified, of which 86 cases (71.6%) were detected before 18 weeks of gestation. Triploidy of maternal origin was found in 32 cases (69.6%) and was associated with asymmetrical growth restriction, a thin placenta, and low pregnancy-associated plasma protein A and free beta-human chorionic gonadotrophin (β-hCG) levels. Triploidy of paternal origin was found in 14 cases (30.4%) and was associated with an increased nuchal translucency, placental molar changes, and a high free β-hCG. Prospective prediction of the parental origin of the triploidy was made in 30 of the 46 cases based on phenotypical ultrasound presentation, and it was correct in all cases. Conclusion: Asymmetrical growth restriction with severe HC/AC discrepancy is pathognomonic of maternal triploidy. Placental molar changes indicate a paternal triploidy. Moreover, triploidy can present with an abnormal first trimester combined test, with serum levels on the extreme end. When available results of maternal serum markers can support the diagnosis of parental origin of the triploidy, an accurate assessment of the parental origin based on prenatal sonographic features is possible, making DNA analysis redundant.",
author = "Lugthart, {Malou A.} and Judith Horenblas and Kleinrouweler, {Emily C.} and Melanie Engels and Knegt, {Alida C.} and Karin Huijsdens and {van Leeuwen}, Elisabeth and Eva Pajkrt",
year = "2020",
month = may,
day = "1",
doi = "10.1002/pd.5666",
language = "English",
volume = "40",
pages = "705--714",
journal = "Prenatal diagnosis",
issn = "0197-3851",
publisher = "John Wiley and Sons Ltd",
number = "6",

}

RIS

TY - JOUR

T1 - Prenatal sonographic features can accurately determine parental origin in triploid pregnancies

AU - Lugthart, Malou A.

AU - Horenblas, Judith

AU - Kleinrouweler, Emily C.

AU - Engels, Melanie

AU - Knegt, Alida C.

AU - Huijsdens, Karin

AU - van Leeuwen, Elisabeth

AU - Pajkrt, Eva

PY - 2020/5/1

Y1 - 2020/5/1

N2 - Objective: To describe the prenatal sonographic features and maternal biochemical markers in triploid pregnancies and to assess whether prenatal phenotype can determine genetic origin. Methods: We performed a retrospective multicenter cohort study that included all triploid pregnancies diagnosed between 2000 and 2018 in two Fetal Medicine Units in Amsterdam. Fetal growth, presence of structural anomalies, extra-fetal anomalies, and maternal biochemical markers were retrieved. Asymmetrical intrauterine growth restriction was diagnosed when the head-to-abdominal circumference (HC/AC) ratio was >95th centile. Parental origin was analyzed via molecular genotyping in 46 cases (38.3%). Results: One hundred and twenty triploid pregnancies were identified, of which 86 cases (71.6%) were detected before 18 weeks of gestation. Triploidy of maternal origin was found in 32 cases (69.6%) and was associated with asymmetrical growth restriction, a thin placenta, and low pregnancy-associated plasma protein A and free beta-human chorionic gonadotrophin (β-hCG) levels. Triploidy of paternal origin was found in 14 cases (30.4%) and was associated with an increased nuchal translucency, placental molar changes, and a high free β-hCG. Prospective prediction of the parental origin of the triploidy was made in 30 of the 46 cases based on phenotypical ultrasound presentation, and it was correct in all cases. Conclusion: Asymmetrical growth restriction with severe HC/AC discrepancy is pathognomonic of maternal triploidy. Placental molar changes indicate a paternal triploidy. Moreover, triploidy can present with an abnormal first trimester combined test, with serum levels on the extreme end. When available results of maternal serum markers can support the diagnosis of parental origin of the triploidy, an accurate assessment of the parental origin based on prenatal sonographic features is possible, making DNA analysis redundant.

AB - Objective: To describe the prenatal sonographic features and maternal biochemical markers in triploid pregnancies and to assess whether prenatal phenotype can determine genetic origin. Methods: We performed a retrospective multicenter cohort study that included all triploid pregnancies diagnosed between 2000 and 2018 in two Fetal Medicine Units in Amsterdam. Fetal growth, presence of structural anomalies, extra-fetal anomalies, and maternal biochemical markers were retrieved. Asymmetrical intrauterine growth restriction was diagnosed when the head-to-abdominal circumference (HC/AC) ratio was >95th centile. Parental origin was analyzed via molecular genotyping in 46 cases (38.3%). Results: One hundred and twenty triploid pregnancies were identified, of which 86 cases (71.6%) were detected before 18 weeks of gestation. Triploidy of maternal origin was found in 32 cases (69.6%) and was associated with asymmetrical growth restriction, a thin placenta, and low pregnancy-associated plasma protein A and free beta-human chorionic gonadotrophin (β-hCG) levels. Triploidy of paternal origin was found in 14 cases (30.4%) and was associated with an increased nuchal translucency, placental molar changes, and a high free β-hCG. Prospective prediction of the parental origin of the triploidy was made in 30 of the 46 cases based on phenotypical ultrasound presentation, and it was correct in all cases. Conclusion: Asymmetrical growth restriction with severe HC/AC discrepancy is pathognomonic of maternal triploidy. Placental molar changes indicate a paternal triploidy. Moreover, triploidy can present with an abnormal first trimester combined test, with serum levels on the extreme end. When available results of maternal serum markers can support the diagnosis of parental origin of the triploidy, an accurate assessment of the parental origin based on prenatal sonographic features is possible, making DNA analysis redundant.

UR - http://www.scopus.com/inward/record.url?scp=85081010885&partnerID=8YFLogxK

U2 - 10.1002/pd.5666

DO - 10.1002/pd.5666

M3 - Article

C2 - 32039494

VL - 40

SP - 705

EP - 714

JO - Prenatal diagnosis

JF - Prenatal diagnosis

SN - 0197-3851

IS - 6

ER -

ID: 11136308