Prenatal management of disorders of Sex development

Chitty, Lyn S.; Chatelain, Pierre; Wolffenbuttel, Katja P.; Aigrain, Yves

doi:10.1016/j.jpurol.2012.10.012

Cited by 45 publications

(32 citation statements)

References 46 publications

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“…In some cases, such as laboratory error, this will be an unnecessary concern which causes anxiety and may lead to unanticipated interventions. In other cases, true discordance between genetic and phenotypic sex will be identified, and conditions including hypospadias, androgen insensitivity, and congenital adrenal hyperplasia may be suspected early in pregnancy in an apparently normal fetus in whom this diagnosis would not have otherwise been made [17][18][19]. Similarly, the situation of indeterminate sex at birth will now be possible to anticipate and clarify by means of fetal karyotyping, enabling counselling and preparation prior to birth.…”

Section: Discussionmentioning

confidence: 99%

Non-Invasive Prenatal Testing for Sex Chromosome Aneuploidy in Routine Clinical Practice

Kornman

Palma-Dias

Nisbet³

et al. 2017

Fetal Diagn Ther

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Objectives: To assess the accuracy of non-invasive prenatal testing (NIPT) for sex chromosome aneuploidy (SCA) in routine clinical practice and to review counselling and sonographic issues arising in SCA cases. Methods: Three specialist Australian obstetric ultrasound and prenatal diagnosis practices offering NIPT after 10 weeks' gestation participated in this study. NIPT was reported for chromosomes 21, 18, 13, X, and Y. Results: NIPT screening was performed in 5,267 singleton pregnancies. The odds of being affected given a positive screening result (OAPR) was lowest for SCAs, most notably for monosomy X (20%). Fewer women underwent invasive prenatal testing when counselled regarding a high risk for SCA (65.5%) compared with those who had a high risk for another aneuploidy (85%). The positive screening rate of NIPT including SCA was 2.3%, but 1.2% if only the autosomal trisomies were included in the panel. Conclusion: The addition of SCA testing to NIPT doubles the positive screening rate. The OAPR for SCAs (most notably for monosomy X) is reduced compared with the autosomal trisomies. Clinicians need a more extensive discussion with women prior to the inclusion of the X and Y chromosomes in the NIPT panel, given the complexity in counselling regarding further management and the additional anxiety that these abnormal results may cause. A benefit of sex chromosome analysis is an improvement in antenatal diagnosis of some disorders of sexual development.

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Section: Discussionmentioning

confidence: 99%

Non-Invasive Prenatal Testing for Sex Chromosome Aneuploidy in Routine Clinical Practice

Kornman

Palma-Dias

Nisbet³

et al. 2017

Fetal Diagn Ther

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“…Although fetal sex was not defined prenatally in some cases, truly abnormal genitals were seldom detected on US. Indeed, despite the increased sensitivity of US technology and greater operator expertise, the difficulty in establishing the diagnosis of ambiguous genitalia on the prenatal period has already been noticed (2).…”

Section: Discussionmentioning

confidence: 99%

“…Ambiguous genitalia is usually not diagnosed prenatally (2). Thus, many parents are faced with the situation at birth.…”

Section: Introductionmentioning

confidence: 99%

Parents’ experiences of having a baby with ambiguous genitalia

Oliveira

Paiva-e-Silva²,

Guerra³

et al. 2015

Journal of Pediatric Endocrinology and Metabolism

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Health professionals must be aware of the impact on parents of the birth of children with ambiguous genitalia. This study aimed to analyze the experiences and perceptions of such parents. Parents of 30 children who were evaluated in a reference center for disorders of sex development (DSD) were interviewed. The questionnaire covered the prenatal period, the moment they were told about the disorder, initial management by health professionals, and problems they experienced. Only two cases were detected during pregnancy. The news was usually given to the mother alone by pediatricians. Most parents kept it secret and avoided exposing the baby to the prejudice of others. Parents of children who were referred without sex assignment usually held a personal belief of their child's sex. Previous assignment was based on clinical examination and/or karyotype. Spreading knowledge about DSD could increase awareness of this issue, thus reducing parents' shock and societal stigma. Training of neonatal care teams is required to avoid assignment before evaluation.

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“…This is a rapidly developing field in which management options will change over time, making the involvement of clinical geneticists, pediatric endocrinologists, and urologists as well as fetal medicine specialists essential [Chitty et al, 2012]. Some genetic investigations can be performed prenatally, but a complete postnatal evaluation is mandatory to reach the correct diagnosis [Russo et al, 2012].…”

Section: Molecular Geneticsmentioning

confidence: 99%

5α-Reductase-2 Deficiency: Clinical Findings, Endocrine Pitfalls, and Genetic Features in a Large Italian Cohort

Bertelloni¹,

Baldinotti

Russo

et al. 2016

Sex Dev

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Clinical records (n = 24) with an established diagnosis of 5α-reductase-2 deficiency were reviewed. A previous misdiagnosis was present in about 70% (period from first observation to definitive diagnosis: 9.1 ± 10.8 years), and in 8 children gonadal removal was performed before certain diagnosis. Initial sex assignment was female in 16/24 (67%) and male in 8/24 (33%) cases. After diagnosis, sex re-assignment was performed in 5 babies (4 girls to male sex; 1 boy to female sex). Baseline testosterone/DHT ratio was diagnostic in 6/12 subjects (first months of life n = 4; puberty n = 2), while post-hCG testosterone/DHT ratio was diagnostic in all tested individuals (choosing both the cut-off value 15 or 10). Eighteen different mutations in the steroid-5α-reductase-2 (SRD5A2) gene were identified, 5 of which have never been reported. In conclusion, a time lag exists before the diagnosis of 5α-reductase-2 deficiency is established; sex assignment and gonadal removal may be performed before certain diagnosis. Sex re-assignment is usually female to male, but the contrary may occur. A large variability in clinical phenotypes and genetic mutations was present in this cohort. Accurate endocrine evaluation is recommended in babies possibly affected by 5α-reductase-2 deficiency, since the use of appropriate cut-off values of testosterone/DHT ratio after hCG stimulation may permit to select individuals for SRD5A2 gene analysis. A genotype-phenotype correlation was not found in this study.

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Prenatal management of disorders of Sex development

Cited by 45 publications

References 46 publications

Non-Invasive Prenatal Testing for Sex Chromosome Aneuploidy in Routine Clinical Practice

Non-Invasive Prenatal Testing for Sex Chromosome Aneuploidy in Routine Clinical Practice

Parents’ experiences of having a baby with ambiguous genitalia

5α-Reductase-2 Deficiency: Clinical Findings, Endocrine Pitfalls, and Genetic Features in a Large Italian Cohort

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