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1.
Yolande van Bever Irene A. L. Groenenberg Maarten F. C. M. Knapen Arianne B. Dessens Sabine E. Hannema Katja P. Wolffenbuttel Karin E. M. Diderich Lies H. Hoefsloot Malgorzata I. Srebniak Hennie T. Bruggenwirth 《黑龙江环境通报》2023,43(2):162-182
Objective
To report uptake of genetic counseling (GC) and prenatal genetic testing after the finding of atypical genitalia on prenatal ultrasound (US) and the clinical and genetic findings of these pregnancies.Methods
A retrospective cohort study (2017–2019) of atypical fetal genitalia in a large expert center for disorders/differences of sex development. We describe counseling aspects, invasive prenatal testing, genetic and clinical outcome of fetuses apparently without [group 1, n = 22 (38%)] or with [group 2, n = 36 (62%)] additional anomalies on US.Results
In group 1, 86% of parents opted for GC versus 72% in group 2, and respectively 58% and 15% of these parents refrained from invasive testing. Atypical genitalia were postnatally confirmed in 91% (group 1) and 64% (group 2), indicating a high rate of false positive US diagnosis of ambiguous genitalia. Four genetic diagnoses were established in group 1 (18%) and 10 in group 2 (28%). The total genetic diagnostic yield was 24%. No terminations of pregnancy occurred in group 1.Conclusions
For optimal care, referral for an expert fetal US scan, GC and invasive diagnostics including broad testing should be offered after prenatal detection of isolated atypical genitalia. 相似文献2.
3.
Marie Boehm Henry Janzen Bob MacGregor Murray Fulton 《Mitigation and Adaptation Strategies for Global Change》2004,9(4):503-504
Subject Index
Subject Index 相似文献4.
Denis J. Sonwa Sarah Walker Robert Nasi Markku Kanninen 《Mitigation and Adaptation Strategies for Global Change》2003,8(4):415-416
Subject Index
Subject Index 相似文献5.
Janine Bloomfield Holly L. Pearson 《Mitigation and Adaptation Strategies for Global Change》2000,5(4):423-424
Volume Contents
Contents volume 相似文献6.
Flamos Alexandras Anagnostopoulos Kostas Doukas Haris Goletsis Yorgos Psarras John 《Mitigation and Adaptation Strategies for Global Change》2004,9(4):501-501
Authors Index
Author Index 相似文献7.
《Mitigation and Adaptation Strategies for Global Change》2002,7(4):417-417
Authors Index
Author Index 相似文献8.
Anne-Marie Boulay Christian Bouchard Cecile Bulle Louise Deschênes Manuele Margni 《Mitigation and Adaptation Strategies for Global Change》2002,7(4):417-418
Subject Index
Subject Index 相似文献9.
《Mitigation and Adaptation Strategies for Global Change》2003,8(4):413-413
Authors Index
Author Index 相似文献10.
Thomas Wilbanks 《Mitigation and Adaptation Strategies for Global Change》2000,5(4):413-414
Subject Index
Subject index 相似文献11.
《Die Naturwissenschaften》1988,75(11):582-583
Naturwissenschaften Aktuell
Internationale Raumstation vertraglich besiegelt 相似文献12.
H. Altenmüller 《Die Naturwissenschaften》1988,75(11):583-584
Naturwissenschaften Aktuell
Innovative chemische Grundlagenforschung 相似文献13.
H. Altenmüller 《Die Naturwissenschaften》1988,75(5):272-272
Naturwissenschaften Aktuell
Bundesforschungsbericht: Wechselwirkungen 相似文献14.
Michael H?der 《Die Naturwissenschaften》1989,76(7):340
Naturwissenschaften Aktuell
Großforschung mit anderen Namen 相似文献15.
H. Altenmüller 《Die Naturwissenschaften》1988,75(10):534
Naturwissenschaften Aktuell
Nachholbedarf in multidisziplinärer Forschung 相似文献16.
《Die Naturwissenschaften》1989,76(3):140
Naturwissenschaften Aktuell
Beilslein-Datenbank bietet öffentlich an 相似文献17.
《Die Naturwissenschaften》1988,75(9):476-477
Naturwissenschaften Aktuell
Europäische Forschungspolitik gewinnt Konturen 相似文献18.
19.
Vinita Krishna 《Mitigation and Adaptation Strategies for Global Change》2003,8(4):417-419
Volume Contents
Contents Volume 8 相似文献20.