Detection of triploidy at 11-14 weeks of gestation: a cohort study of 198,000 pregnant women

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningfagfællebedømt

Standard

Detection of triploidy at 11-14 weeks of gestation : a cohort study of 198,000 pregnant women. / Engelbrechtsen, Line; Brøndum-Nielsen, Karen; Ekelund, Charlotte; Tabor, Ann; Skibsted, Lillian; the Danish Fetal Medicine study group; Farlie, Richard; Hoseth, Eva; Larsen, Torben; Petersen, Olav Bjørn; Stornes, Inger; Vejerslev, Lars O.; Zingenberg, Helle.

I: Ultrasound in Obstetrics & Gynecology, Bind 42, Nr. 5, 11.2013, s. 530-535.

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningfagfællebedømt

Harvard

Engelbrechtsen, L, Brøndum-Nielsen, K, Ekelund, C, Tabor, A, Skibsted, L, the Danish Fetal Medicine study group, Farlie, R, Hoseth, E, Larsen, T, Petersen, OB, Stornes, I, Vejerslev, LO & Zingenberg, H 2013, 'Detection of triploidy at 11-14 weeks of gestation: a cohort study of 198,000 pregnant women', Ultrasound in Obstetrics & Gynecology, bind 42, nr. 5, s. 530-535. https://doi.org/10.1002/uog.12460

APA

Engelbrechtsen, L., Brøndum-Nielsen, K., Ekelund, C., Tabor, A., Skibsted, L., the Danish Fetal Medicine study group, Farlie, R., Hoseth, E., Larsen, T., Petersen, O. B., Stornes, I., Vejerslev, L. O., & Zingenberg, H. (2013). Detection of triploidy at 11-14 weeks of gestation: a cohort study of 198,000 pregnant women. Ultrasound in Obstetrics & Gynecology, 42(5), 530-535. https://doi.org/10.1002/uog.12460

Vancouver

Engelbrechtsen L, Brøndum-Nielsen K, Ekelund C, Tabor A, Skibsted L, the Danish Fetal Medicine study group o.a. Detection of triploidy at 11-14 weeks of gestation: a cohort study of 198,000 pregnant women. Ultrasound in Obstetrics & Gynecology. 2013 nov;42(5):530-535. https://doi.org/10.1002/uog.12460

Author

Engelbrechtsen, Line ; Brøndum-Nielsen, Karen ; Ekelund, Charlotte ; Tabor, Ann ; Skibsted, Lillian ; the Danish Fetal Medicine study group ; Farlie, Richard ; Hoseth, Eva ; Larsen, Torben ; Petersen, Olav Bjørn ; Stornes, Inger ; Vejerslev, Lars O. ; Zingenberg, Helle. / Detection of triploidy at 11-14 weeks of gestation : a cohort study of 198,000 pregnant women. I: Ultrasound in Obstetrics & Gynecology. 2013 ; Bind 42, Nr. 5. s. 530-535.

Bibtex

@article{50dd495319bd4169a0206e179bd586ff,
title = "Detection of triploidy at 11-14 weeks of gestation: a cohort study of 198,000 pregnant women",
abstract = "OBJECTIVES: To assess the detection rate of triploidy at first-trimester screening for trisomy 21 and evaluate outcome in triploid pregnancies. METHODS: From 2008-2011, 198,427 patients women with singleton pregnancies underwent first-trimester screening (FTS) at 11+2 - 14+0 weeks of gestation. FTS included: Nuchal translucency (NT), maternal serum free β-human chorionic gonadotrophin (β-hCG) and pregnancy associated plasma protein-A (PAPP-A). In all triploid fetuses FTS parameters were re-evaluated. Karyotypes were established by invasive testing (CVS or AC) or post abortem and obtained from the Danish Cytogenetic Central Register and the Danish Fetal Medicine Database. RESULTS: A total of 30 triploid fetuses attended FTS. Twenty-five triploid fetuses were diagnosed as a result of abnormal FTS, a detection rate of 83%.Twenty-three fetuses were identified due to a high risk of trisomy 13, 18 or 21 and two fetuses due to structural abnormalities at FTS. The incidence of triploidy at FTS was 1:6614. A smaller CRL than estimated by last menstrual period was found in 95 % of the fetuses with the data available for evaluation. Eight fetuses had larger BPD than expected by gestational age. 69, XXX fetuses had significantly lower β-hCG MoM and PAPP-A MoM than 69, XXY fetuses (p=0.045 and p=0.02). No infants with triploidy were born in the study period. Among the triploid gestations, 80% of the women chose termination of pregnancy, 16 % had spontaneous miscarriages, and one was stillborn. CONCLUSION: First trimester screening for trisomy 21 also provides a high detection rate for triploidy.",
author = "Line Engelbrechtsen and Karen Br{\o}ndum-Nielsen and Charlotte Ekelund and Ann Tabor and Lillian Skibsted and {the Danish Fetal Medicine study group} and Richard Farlie and Eva Hoseth and Torben Larsen and Petersen, {Olav Bj{\o}rn} and Inger Stornes and Vejerslev, {Lars O.} and Helle Zingenberg",
note = "Copyright {\textcopyright} 2013 ISUOG. Published by John Wiley & Sons, Ltd.",
year = "2013",
month = nov,
doi = "10.1002/uog.12460",
language = "English",
volume = "42",
pages = "530--535",
journal = "Ultrasound in Obstetrics & Gynecology",
issn = "0960-7692",
publisher = "JohnWiley & Sons Ltd",
number = "5",

}

RIS

TY - JOUR

T1 - Detection of triploidy at 11-14 weeks of gestation

T2 - a cohort study of 198,000 pregnant women

AU - Engelbrechtsen, Line

AU - Brøndum-Nielsen, Karen

AU - Ekelund, Charlotte

AU - Tabor, Ann

AU - Skibsted, Lillian

AU - the Danish Fetal Medicine study group

AU - Farlie, Richard

AU - Hoseth, Eva

AU - Larsen, Torben

AU - Petersen, Olav Bjørn

AU - Stornes, Inger

AU - Vejerslev, Lars O.

AU - Zingenberg, Helle

N1 - Copyright © 2013 ISUOG. Published by John Wiley & Sons, Ltd.

PY - 2013/11

Y1 - 2013/11

N2 - OBJECTIVES: To assess the detection rate of triploidy at first-trimester screening for trisomy 21 and evaluate outcome in triploid pregnancies. METHODS: From 2008-2011, 198,427 patients women with singleton pregnancies underwent first-trimester screening (FTS) at 11+2 - 14+0 weeks of gestation. FTS included: Nuchal translucency (NT), maternal serum free β-human chorionic gonadotrophin (β-hCG) and pregnancy associated plasma protein-A (PAPP-A). In all triploid fetuses FTS parameters were re-evaluated. Karyotypes were established by invasive testing (CVS or AC) or post abortem and obtained from the Danish Cytogenetic Central Register and the Danish Fetal Medicine Database. RESULTS: A total of 30 triploid fetuses attended FTS. Twenty-five triploid fetuses were diagnosed as a result of abnormal FTS, a detection rate of 83%.Twenty-three fetuses were identified due to a high risk of trisomy 13, 18 or 21 and two fetuses due to structural abnormalities at FTS. The incidence of triploidy at FTS was 1:6614. A smaller CRL than estimated by last menstrual period was found in 95 % of the fetuses with the data available for evaluation. Eight fetuses had larger BPD than expected by gestational age. 69, XXX fetuses had significantly lower β-hCG MoM and PAPP-A MoM than 69, XXY fetuses (p=0.045 and p=0.02). No infants with triploidy were born in the study period. Among the triploid gestations, 80% of the women chose termination of pregnancy, 16 % had spontaneous miscarriages, and one was stillborn. CONCLUSION: First trimester screening for trisomy 21 also provides a high detection rate for triploidy.

AB - OBJECTIVES: To assess the detection rate of triploidy at first-trimester screening for trisomy 21 and evaluate outcome in triploid pregnancies. METHODS: From 2008-2011, 198,427 patients women with singleton pregnancies underwent first-trimester screening (FTS) at 11+2 - 14+0 weeks of gestation. FTS included: Nuchal translucency (NT), maternal serum free β-human chorionic gonadotrophin (β-hCG) and pregnancy associated plasma protein-A (PAPP-A). In all triploid fetuses FTS parameters were re-evaluated. Karyotypes were established by invasive testing (CVS or AC) or post abortem and obtained from the Danish Cytogenetic Central Register and the Danish Fetal Medicine Database. RESULTS: A total of 30 triploid fetuses attended FTS. Twenty-five triploid fetuses were diagnosed as a result of abnormal FTS, a detection rate of 83%.Twenty-three fetuses were identified due to a high risk of trisomy 13, 18 or 21 and two fetuses due to structural abnormalities at FTS. The incidence of triploidy at FTS was 1:6614. A smaller CRL than estimated by last menstrual period was found in 95 % of the fetuses with the data available for evaluation. Eight fetuses had larger BPD than expected by gestational age. 69, XXX fetuses had significantly lower β-hCG MoM and PAPP-A MoM than 69, XXY fetuses (p=0.045 and p=0.02). No infants with triploidy were born in the study period. Among the triploid gestations, 80% of the women chose termination of pregnancy, 16 % had spontaneous miscarriages, and one was stillborn. CONCLUSION: First trimester screening for trisomy 21 also provides a high detection rate for triploidy.

U2 - 10.1002/uog.12460

DO - 10.1002/uog.12460

M3 - Journal article

C2 - 23494847

VL - 42

SP - 530

EP - 535

JO - Ultrasound in Obstetrics & Gynecology

JF - Ultrasound in Obstetrics & Gynecology

SN - 0960-7692

IS - 5

ER -

ID: 47716041