TY - JOUR
T1 - Reproduction abnormalities and twin pregnancies in parents of sporadic patients with oculo-auriculo-vertebral spectrum/Goldenhar syndrome
AU - Wieczorek, Dagmar
AU - Ludwig, Michael
AU - Boehringer, Stefan
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).
PY - 2007/5
Y1 - 2007/5
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.
UR - http://www.scopus.com/inward/record.url?scp=34147161235&partnerID=8YFLogxK
U2 - 10.1007/s00439-007-0336-0
DO - 10.1007/s00439-007-0336-0
M3 - Journal articles
C2 - 17297623
AN - SCOPUS:34147161235
SN - 0340-6717
VL - 121
SP - 369
EP - 376
JO - Human Genetics
JF - Human Genetics
IS - 3-4
ER -