Reproduction abnormalities and twin pregnancies in parents of sporadic patients with oculo-auriculo-vertebral spectrum/Goldenhar syndrome

Dagmar Wieczorek; Michael Ludwig; Stefan Boehringer; Piet Hein Jongbloet; Gabriele Gillessen-Kaesbach; Bernhard Horsthemke

doi:10.1007/s00439-007-0336-0

Reproduction abnormalities and twin pregnancies in parents of sporadic patients with oculo-auriculo-vertebral spectrum/Goldenhar syndrome

Dagmar Wieczorek^*, Michael Ludwig, Stefan Boehringer, Piet Hein Jongbloet, Gabriele Gillessen-Kaesbach, Bernhard Horsthemke

^*Corresponding author for this work

Institute of Human Genetics

38 Citations (Scopus)

Abstract

A great number of case reports on concordant and discordant twins with oculo-auriculo-vertebral spectrum (OAVS) suggest that there might be an association between reproductive abnormalities, twinning and OAVS. The etiology of OAVS is unknown, but may involve epigenetic dysregulation of the oocyte or early embryo. We collected data on fertility and pregnancy outcome of 72 parents of patients with sporadic OAVS. We also evaluated prospective follow-up data on 3.372 fetuses and children conceived by intracytoplasmatic sperm injection (ICSI). Parental age, duration of menstrual cycle and the incidence of spontaneous abortion was not different when compared to the German population. However, there is an excess of parents who have used assisted reproductive techniques (ART; retrospective P = 0.038, prospective P = 0.023) and an excess of twins among naturally conceived patients with OAVS (P = 0.0025). An excess of ART conceptions and monozygotic twinning in OAVS is compatible with the concept of overripeness ovopathy as proposed by Jongbloet.

Original language	English
Journal	Human Genetics
Volume	121
Issue number	3-4
Pages (from-to)	369-376
Number of pages	8
ISSN	0340-6717
DOIs	https://doi.org/10.1007/s00439-007-0336-0
Publication status	Published - 05.2007

Funding

Acknowledgments We would like to thank B. Albrecht, R. Bährens, C. Hammanns, D. Horn, A. Janecke, C. Klein, F. Kreutz, P. Meinecke, C. Mohr, M. Preischl, E.-C. Prott, R. Siegert, H. Umstadt, C. Wilmes for sending clinical data and/or blood samples. We thank H.-J. Lüdecke and S. Fischer for helpful discussion. In addition, we thank Bettina Stein for detailed patient data of her thesis and Melanie Trommler for performing zygosity testing. Furthermore, we would like to thank the patients and their parents who took part in this study and the parents’ support group for their friendly support. This study was supported by the Deutsche Forschungsgemeinschaft (DFG WI 1440/6-4).

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Research Area: Medical Genetics

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1007/s00439-007-0336-0

Cite this

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title = "Reproduction abnormalities and twin pregnancies in parents of sporadic patients with oculo-auriculo-vertebral spectrum/Goldenhar syndrome",

abstract = "A great number of case reports on concordant and discordant twins with oculo-auriculo-vertebral spectrum (OAVS) suggest that there might be an association between reproductive abnormalities, twinning and OAVS. The etiology of OAVS is unknown, but may involve epigenetic dysregulation of the oocyte or early embryo. We collected data on fertility and pregnancy outcome of 72 parents of patients with sporadic OAVS. We also evaluated prospective follow-up data on 3.372 fetuses and children conceived by intracytoplasmatic sperm injection (ICSI). Parental age, duration of menstrual cycle and the incidence of spontaneous abortion was not different when compared to the German population. However, there is an excess of parents who have used assisted reproductive techniques (ART; retrospective P = 0.038, prospective P = 0.023) and an excess of twins among naturally conceived patients with OAVS (P = 0.0025). An excess of ART conceptions and monozygotic twinning in OAVS is compatible with the concept of overripeness ovopathy as proposed by Jongbloet.",

author = "Dagmar Wieczorek and Michael Ludwig and Stefan Boehringer and Jongbloet, \{Piet Hein\} and Gabriele Gillessen-Kaesbach and Bernhard Horsthemke",

note = "Funding Information: Acknowledgments We would like to thank B. Albrecht, R. B{\"a}hrens, C. Hammanns, D. Horn, A. Janecke, C. Klein, F. Kreutz, P. Meinecke, C. Mohr, M. Preischl, E.-C. Prott, R. Siegert, H. Umstadt, C. Wilmes for sending clinical data and/or blood samples. We thank H.-J. L{\"u}decke and S. Fischer for helpful discussion. In addition, we thank Bettina Stein for detailed patient data of her thesis and Melanie Trommler for performing zygosity testing. Furthermore, we would like to thank the patients and their parents who took part in this study and the parents{\textquoteright} support group for their friendly support. This study was supported by the Deutsche Forschungsgemeinschaft (DFG WI 1440/6-4).",

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AU - Jongbloet, Piet Hein

AU - Gillessen-Kaesbach, Gabriele

AU - Horsthemke, Bernhard

N1 - Funding Information: Acknowledgments We would like to thank B. Albrecht, R. Bährens, C. Hammanns, D. Horn, A. Janecke, C. Klein, F. Kreutz, P. Meinecke, C. Mohr, M. Preischl, E.-C. Prott, R. Siegert, H. Umstadt, C. Wilmes for sending clinical data and/or blood samples. We thank H.-J. Lüdecke and S. Fischer for helpful discussion. In addition, we thank Bettina Stein for detailed patient data of her thesis and Melanie Trommler for performing zygosity testing. Furthermore, we would like to thank the patients and their parents who took part in this study and the parents’ support group for their friendly support. This study was supported by the Deutsche Forschungsgemeinschaft (DFG WI 1440/6-4).

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N2 - A great number of case reports on concordant and discordant twins with oculo-auriculo-vertebral spectrum (OAVS) suggest that there might be an association between reproductive abnormalities, twinning and OAVS. The etiology of OAVS is unknown, but may involve epigenetic dysregulation of the oocyte or early embryo. We collected data on fertility and pregnancy outcome of 72 parents of patients with sporadic OAVS. We also evaluated prospective follow-up data on 3.372 fetuses and children conceived by intracytoplasmatic sperm injection (ICSI). Parental age, duration of menstrual cycle and the incidence of spontaneous abortion was not different when compared to the German population. However, there is an excess of parents who have used assisted reproductive techniques (ART; retrospective P = 0.038, prospective P = 0.023) and an excess of twins among naturally conceived patients with OAVS (P = 0.0025). An excess of ART conceptions and monozygotic twinning in OAVS is compatible with the concept of overripeness ovopathy as proposed by Jongbloet.

AB - A great number of case reports on concordant and discordant twins with oculo-auriculo-vertebral spectrum (OAVS) suggest that there might be an association between reproductive abnormalities, twinning and OAVS. The etiology of OAVS is unknown, but may involve epigenetic dysregulation of the oocyte or early embryo. We collected data on fertility and pregnancy outcome of 72 parents of patients with sporadic OAVS. We also evaluated prospective follow-up data on 3.372 fetuses and children conceived by intracytoplasmatic sperm injection (ICSI). Parental age, duration of menstrual cycle and the incidence of spontaneous abortion was not different when compared to the German population. However, there is an excess of parents who have used assisted reproductive techniques (ART; retrospective P = 0.038, prospective P = 0.023) and an excess of twins among naturally conceived patients with OAVS (P = 0.0025). An excess of ART conceptions and monozygotic twinning in OAVS is compatible with the concept of overripeness ovopathy as proposed by Jongbloet.

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Reproduction abnormalities and twin pregnancies in parents of sporadic patients with oculo-auriculo-vertebral spectrum/Goldenhar syndrome

Abstract

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UN SDGs

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