Inherited unbalanced structural chromosome abnormalities at prenatal chromosome analysis are rarely ascertained through recurrent miscarriage

M. T. M. Franssen; J. C. Korevaar; W. M. Tjoa; N. J. Leschot; P. M. M. Bossuyt; A. C. Knegt; R. F. Suykerbuyk; R. Hochstenbach; F. van der Veen; M. Goddijn

doi:https://doi.org/10.1002/pd.1960

Inherited unbalanced structural chromosome abnormalities at prenatal chromosome analysis are rarely ascertained through recurrent miscarriage

M. T. M. Franssen, J. C. Korevaar, W. M. Tjoa, N. J. Leschot, P. M. M. Bossuyt, A. C. Knegt, R. F. Suykerbuyk, R. Hochstenbach, F. van der Veen, M. Goddijn

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

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Abstract

OBJECTIVE: To determine the mode of ascertainment of inherited unbalanced structural chromosome abnormalities detected at prenatal chromosome analysis. METHODS: From the databases of three centres for clinical genetics in the Netherlands, all cases of inherited unbalanced structural chromosome abnormalities detected at prenatal chromosome analysis in the period 1992-2000 were selected. The mode of ascertainment was identified by examining the reason for prenatal chromosome analysis and the reason for parental chromosome analysis of the first structural chromosome abnormality detected within the family. RESULTS: Totally 56 cases of inherited unbalanced structural chromosome abnormalities were detected at prenatal chromosome analysis. Only one case was ascertained through two previous miscarriages (2%). The main modes of ascertainment were a previous child with an unbalanced karyotype (48%), congenital abnormalities at ultrasound examination (20%), and advanced maternal age (9%). The remaining cases had a different mode of ascertainment. CONCLUSION: Inherited unbalanced structural chromosome abnormalities detected at prenatal chromosome analysis are rarely ascertained through two or more miscarriages

Original language	English
Pages (from-to)	408-411
Journal	Prenatal diagnosis
Volume	28
Issue number	5
DOIs	https://doi.org/10.1002/pd.1960
Publication status	Published - 2008

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Franssen, M. T. M., Korevaar, J. C., Tjoa, W. M., Leschot, N. J., Bossuyt, P. M. M., Knegt, A. C., Suykerbuyk, R. F., Hochstenbach, R., van der Veen, F., & Goddijn, M. (2008). Inherited unbalanced structural chromosome abnormalities at prenatal chromosome analysis are rarely ascertained through recurrent miscarriage. Prenatal diagnosis, 28(5), 408-411. https://doi.org/10.1002/pd.1960

@article{0764452283bd4c28917d14ba94d7afeb,

title = "Inherited unbalanced structural chromosome abnormalities at prenatal chromosome analysis are rarely ascertained through recurrent miscarriage",

abstract = "OBJECTIVE: To determine the mode of ascertainment of inherited unbalanced structural chromosome abnormalities detected at prenatal chromosome analysis. METHODS: From the databases of three centres for clinical genetics in the Netherlands, all cases of inherited unbalanced structural chromosome abnormalities detected at prenatal chromosome analysis in the period 1992-2000 were selected. The mode of ascertainment was identified by examining the reason for prenatal chromosome analysis and the reason for parental chromosome analysis of the first structural chromosome abnormality detected within the family. RESULTS: Totally 56 cases of inherited unbalanced structural chromosome abnormalities were detected at prenatal chromosome analysis. Only one case was ascertained through two previous miscarriages (2%). The main modes of ascertainment were a previous child with an unbalanced karyotype (48%), congenital abnormalities at ultrasound examination (20%), and advanced maternal age (9%). The remaining cases had a different mode of ascertainment. CONCLUSION: Inherited unbalanced structural chromosome abnormalities detected at prenatal chromosome analysis are rarely ascertained through two or more miscarriages",

author = "Franssen, {M. T. M.} and Korevaar, {J. C.} and Tjoa, {W. M.} and Leschot, {N. J.} and Bossuyt, {P. M. M.} and Knegt, {A. C.} and Suykerbuyk, {R. F.} and R. Hochstenbach and {van der Veen}, F. and M. Goddijn",

year = "2008",

doi = "https://doi.org/10.1002/pd.1960",

language = "English",

volume = "28",

pages = "408--411",

journal = "Prenatal diagnosis",

issn = "0197-3851",

publisher = "John Wiley and Sons Ltd",

number = "5",

}

Franssen, MTM, Korevaar, JC, Tjoa, WM, Leschot, NJ, Bossuyt, PMM, Knegt, AC, Suykerbuyk, RF, Hochstenbach, R, van der Veen, F & Goddijn, M 2008, 'Inherited unbalanced structural chromosome abnormalities at prenatal chromosome analysis are rarely ascertained through recurrent miscarriage', Prenatal diagnosis, vol. 28, no. 5, pp. 408-411. https://doi.org/10.1002/pd.1960

TY - JOUR

T1 - Inherited unbalanced structural chromosome abnormalities at prenatal chromosome analysis are rarely ascertained through recurrent miscarriage

AU - Franssen, M. T. M.

AU - Korevaar, J. C.

AU - Tjoa, W. M.

AU - Leschot, N. J.

AU - Bossuyt, P. M. M.

AU - Knegt, A. C.

AU - Suykerbuyk, R. F.

AU - Hochstenbach, R.

AU - van der Veen, F.

AU - Goddijn, M.

PY - 2008

Y1 - 2008

N2 - OBJECTIVE: To determine the mode of ascertainment of inherited unbalanced structural chromosome abnormalities detected at prenatal chromosome analysis. METHODS: From the databases of three centres for clinical genetics in the Netherlands, all cases of inherited unbalanced structural chromosome abnormalities detected at prenatal chromosome analysis in the period 1992-2000 were selected. The mode of ascertainment was identified by examining the reason for prenatal chromosome analysis and the reason for parental chromosome analysis of the first structural chromosome abnormality detected within the family. RESULTS: Totally 56 cases of inherited unbalanced structural chromosome abnormalities were detected at prenatal chromosome analysis. Only one case was ascertained through two previous miscarriages (2%). The main modes of ascertainment were a previous child with an unbalanced karyotype (48%), congenital abnormalities at ultrasound examination (20%), and advanced maternal age (9%). The remaining cases had a different mode of ascertainment. CONCLUSION: Inherited unbalanced structural chromosome abnormalities detected at prenatal chromosome analysis are rarely ascertained through two or more miscarriages

AB - OBJECTIVE: To determine the mode of ascertainment of inherited unbalanced structural chromosome abnormalities detected at prenatal chromosome analysis. METHODS: From the databases of three centres for clinical genetics in the Netherlands, all cases of inherited unbalanced structural chromosome abnormalities detected at prenatal chromosome analysis in the period 1992-2000 were selected. The mode of ascertainment was identified by examining the reason for prenatal chromosome analysis and the reason for parental chromosome analysis of the first structural chromosome abnormality detected within the family. RESULTS: Totally 56 cases of inherited unbalanced structural chromosome abnormalities were detected at prenatal chromosome analysis. Only one case was ascertained through two previous miscarriages (2%). The main modes of ascertainment were a previous child with an unbalanced karyotype (48%), congenital abnormalities at ultrasound examination (20%), and advanced maternal age (9%). The remaining cases had a different mode of ascertainment. CONCLUSION: Inherited unbalanced structural chromosome abnormalities detected at prenatal chromosome analysis are rarely ascertained through two or more miscarriages

U2 - https://doi.org/10.1002/pd.1960

DO - https://doi.org/10.1002/pd.1960

M3 - Article

C2 - 18395875

SN - 0197-3851

VL - 28

SP - 408

EP - 411

JO - Prenatal diagnosis

JF - Prenatal diagnosis

IS - 5

ER -