Prenatal management of disorders of Sex development

被引：30

作者：

Chitty, Lyn S. ^{[1
,2
]}

Chatelain, Pierre ^{[3
]}

Wolffenbuttel, Katja P. ^{[4
]}

Aigrain, Yves ^{[5
]}

机构：

[1] UCL Inst Child Hlth, Clin & Mol Genet Unit, London WC1N 1EH, England

[2] Univ Coll London Hosp NHS Fdn Trust, Fetal Med Unit, London, England

[3] Univ Lyon 1, Hop Mere Enfant Lyon, Serv Endocinol & Diabet Infantiles, Lyon, France

[4] Erasmus MC Sophia Childrens Hosp, Dept Pediat Urol, NL-3000 CB Rotterdam, Netherlands

[5] Univ Paris 05, Hop Necker Enfants Malades, APHP Paris, F-75015 Paris, France

来源：

JOURNAL OF PEDIATRIC UROLOGY | 2012年 / 8卷 / 06期

基金：

美国国家卫生研究院;

关键词：

Prenatal diagnosis; Fetal ultrasound; Prenatal management; Disorders of sex development; Ambiguous genitalia; Congenital adrenal hyperplasia; CONGENITAL ADRENAL-HYPERPLASIA; FREE FETAL DNA; MATERNAL PLASMA; DIAGNOSIS; THERAPY; GENDER; RISK;

D O I：

10.1016/j.jpurol.2012.10.012

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Disorders of sex development (DSD) rarely present prenatally but, as they are very complex conditions, management should be directed by highly specialised medical teams to allow consideration of all aspects of diagnosis, treatment and ethical issues. In this brief review, we present an overview of the prenatal presentation and management of DSD, including the sonographic appearance of normal genitalia and methods of determining genetic sex, the prenatal management of pregnancies with the unexpected finding of genital ambiguity on prenatal ultrasound and a review of the prenatal management of pregnancies at high risk of DSD. As this is a rapidly developing field, management options will change over time, making the involvement of clinical geneticists, paediatric endocrinologists and urologists, as well as fetal medicine specialists, essential in the care of these complex pregnancies. The reader should also bear in mind that local social, ethical and legal aspects may also influence management. (C) 2012 Journal of Pediatric Urology Company. Published by Elsevier Ltd. All rights reserved.

引用

页码：576 / 584

页数：9

共 44 条

[21] Antenatal steroid treatment and adverse fetal effects: What is the evidence?
Kay, HH
Bird, IM
Coe, CL
Dudley, DJ
[J]. JOURNAL OF THE SOCIETY FOR GYNECOLOGIC INVESTIGATION, 2000, 7 (05) : 269 - 278
[22] Antenatal Glucocorticoid Exposure and Long-Term Alterations in Aortic Function and Glucose Metabolism
Kelly, Brenda A.
Lewandowski, Adam J.
Worton, Stephanie A.
Davis, Esther F.
Lazdam, Merzaka
Francis, Jane
Neubauer, Stefan
Lucas, Alan
Singhal, Atul
Leeson, Paul
[J]. PEDIATRICS, 2012, 129 (05) : E1282 - E1290
[23] Non-invasive prenatal diagnosis for fetal sex determination: benefits and disadvantages from the service users' perspective
Lewis, Celine
Hill, Melissa
Skirton, Heather
Chitty, Lyn S.
[J]. EUROPEAN JOURNAL OF HUMAN GENETICS, 2012, 20 (11) : 1127 - 1133
[24] Fetal sex determination using cell-free fetal DNA: service users' experiences of and preferences for service delivery
Lewis, Celine
Hill, Melissa
Skirton, Heather
Chitty, Lyn S.
[J]. PRENATAL DIAGNOSIS, 2012, 32 (08) : 735 - 741
[25] Rapid clearance of fetal DNA from maternal plasma
Lo, YMD
Zhang, J
Leung, TN
Lau, TK
Chang, AMZ
Hjelm, NM
[J]. AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 64 (01) : 218 - 224
[26] Presence of fetal DNA in maternal plasma and serum
Lo, YMD
Corbetta, N
Chamberlain, PF
Rai, V
Sargent, IL
Redman, CWG
Wainscoat, JS
[J]. LANCET, 1997, 350 (9076) : 485 - 487
[27] Microfluidics digital PCR reveals a higher than expected fraction of fetal DNA in maternal plasma
Lun, Fiona M. F.
Chiu, Rossa W. K.
Chan, K. C. Allen
Leung, Tak Yeung
Lau, Tze Kin
Lo, Y. M. Dennis
[J]. CLINICAL CHEMISTRY, 2008, 54 (10) : 1664 - 1672
[28] Meyer-Bahlburg HFL, 2011, ENDOCR DEV, V20, P88, DOI 10.1159/000321225
[29] Prenatal treatment of congenital adrenal hyperplasia: A promising experimental therapy of unproven safety
Miller, WL
[J]. TRENDS IN ENDOCRINOLOGY AND METABOLISM, 1998, 9 (07) : 290 - 293
[30] Morel Y, 1991, Adv Hum Genet, V20, P1

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