First-trimester non-invasive prenatal diagnosis of triploidy

Irene M. de Graaf; Saskia M. C. A. van Bezouw; Marja E. Jakobs; Nico J. Leschot; Hans A. Zondervan; Caterina M. Bilardo; Jan M. N. Hoovers

doi:https://doi.org/10.1002/(SICI)1097-0223(199902)19:2<175::AID-PD524>3.0.CO;2-4

First-trimester non-invasive prenatal diagnosis of triploidy

Irene M. de Graaf, Saskia M. C. A. van Bezouw, Marja E. Jakobs, Nico J. Leschot, Hans A. Zondervan, Caterina M. Bilardo, Jan M. N. Hoovers

Other departments

Research output: Contribution to journal › Article › Academic › peer-review

4 Citations (Scopus)

Abstract

We report a case of fetal triploidy in which fetal nucleated red blood cells were isolated from the maternal peripheral circulation at 12 weeks' gestation. FISH analysis with X and Y specific probes revealed three hybridization signals for the X chromosomes in 14 cells. The karyotype as established after CVS was shown to be 69,XXX. Two other non-invasive first-trimester screening methods were also evaluated. The serum markers pregnancy-associated plasma protein A (PAPP-A) and the free β-chain of chorionic gonadotrophin (free β-hCG) were both shown to be decreased in the same blood sample. An enlarged nuchal translucency (5 mm ≥ 95th centile) was seen at 13 + 2 weeks of gestation.

Original language	English
Pages (from-to)	175-177
Journal	Prenatal diagnosis
Volume	19
Issue number	2
DOIs	https://doi.org/10.1002/(SICI)1097-0223(199902)19:2<175::AID-PD524>3.0.CO;2-4
Publication status	Published - 1999

Access to Document

https://doi.org/10.1002/(SICI)1097-0223(199902)19:2<175::AID-PD524>3.0.CO;2-4

Cite this

@article{57072699b53d47e3a24349997b3be682,

title = "First-trimester non-invasive prenatal diagnosis of triploidy",

abstract = "We report a case of fetal triploidy in which fetal nucleated red blood cells were isolated from the maternal peripheral circulation at 12 weeks' gestation. FISH analysis with X and Y specific probes revealed three hybridization signals for the X chromosomes in 14 cells. The karyotype as established after CVS was shown to be 69,XXX. Two other non-invasive first-trimester screening methods were also evaluated. The serum markers pregnancy-associated plasma protein A (PAPP-A) and the free β-chain of chorionic gonadotrophin (free β-hCG) were both shown to be decreased in the same blood sample. An enlarged nuchal translucency (5 mm ≥ 95th centile) was seen at 13 + 2 weeks of gestation.",

author = "{de Graaf}, {Irene M.} and {van Bezouw}, {Saskia M. C. A.} and Jakobs, {Marja E.} and Leschot, {Nico J.} and Zondervan, {Hans A.} and Bilardo, {Caterina M.} and Hoovers, {Jan M. N.}",

year = "1999",

doi = "https://doi.org/10.1002/(SICI)1097-0223(199902)19:2<175::AID-PD524>3.0.CO;2-4",

language = "English",

volume = "19",

pages = "175--177",

journal = "Prenatal Diagnosis",

issn = "0197-3851",

publisher = "John Wiley and Sons Ltd",

number = "2",

}

TY - JOUR

T1 - First-trimester non-invasive prenatal diagnosis of triploidy

AU - de Graaf, Irene M.

AU - van Bezouw, Saskia M. C. A.

AU - Jakobs, Marja E.

AU - Leschot, Nico J.

AU - Zondervan, Hans A.

AU - Bilardo, Caterina M.

AU - Hoovers, Jan M. N.

PY - 1999

Y1 - 1999

N2 - We report a case of fetal triploidy in which fetal nucleated red blood cells were isolated from the maternal peripheral circulation at 12 weeks' gestation. FISH analysis with X and Y specific probes revealed three hybridization signals for the X chromosomes in 14 cells. The karyotype as established after CVS was shown to be 69,XXX. Two other non-invasive first-trimester screening methods were also evaluated. The serum markers pregnancy-associated plasma protein A (PAPP-A) and the free β-chain of chorionic gonadotrophin (free β-hCG) were both shown to be decreased in the same blood sample. An enlarged nuchal translucency (5 mm ≥ 95th centile) was seen at 13 + 2 weeks of gestation.

AB - We report a case of fetal triploidy in which fetal nucleated red blood cells were isolated from the maternal peripheral circulation at 12 weeks' gestation. FISH analysis with X and Y specific probes revealed three hybridization signals for the X chromosomes in 14 cells. The karyotype as established after CVS was shown to be 69,XXX. Two other non-invasive first-trimester screening methods were also evaluated. The serum markers pregnancy-associated plasma protein A (PAPP-A) and the free β-chain of chorionic gonadotrophin (free β-hCG) were both shown to be decreased in the same blood sample. An enlarged nuchal translucency (5 mm ≥ 95th centile) was seen at 13 + 2 weeks of gestation.

UR - https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=0033065142&origin=inward

UR - https://www.ncbi.nlm.nih.gov/pubmed/10215078

U2 - https://doi.org/10.1002/(SICI)1097-0223(199902)19:2<175::AID-PD524>3.0.CO;2-4

DO - https://doi.org/10.1002/(SICI)1097-0223(199902)19:2<175::AID-PD524>3.0.CO;2-4

M3 - Article

C2 - 10215078

SN - 0197-3851

VL - 19

SP - 175

EP - 177

JO - Prenatal Diagnosis

JF - Prenatal Diagnosis

IS - 2

ER -

First-trimester non-invasive prenatal diagnosis of triploidy

Abstract

Access to Document

Other files and links

Cite this