The outcome of prenatal identification of sex chromosome abnormalities

Lucas‐Herald, Angela K; Cann, Fiona; Crawford, Lorna; Morrison, H. B.; Boroujerdi, M; Nelson, Scott M.; Ahmed, S Faisal; McGowan, Ruth

doi:10.1136/archdischild-2015-309681

Cited by 9 publications

(6 citation statements)

References 32 publications

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“…Yet, some spontaneous abortions with T18 or T13 might not be captured by our surveillance system due to the lack of karyotype analysis. The incidence of sex chromosomal abnormalities was 1% in pregnancies when prenatal diagnosis was performed, with prenatal detection rate below 50% [4, 25]. The fact that newborns without clinics presentation might not have undergone karyotype confirmation even if they possessed sex chromosomal abnormalities.…”

Section: Discussionmentioning

confidence: 99%

Chromosomal abnormalities: subgroup analysis by maternal age and perinatal features in zhejiang province of China, 2011–2015

et al. 2017

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BackgroundRecently, the prevalence of chromosomal abnormalities (CA) increased as the increasing proportion of mothers with advanced age. We aimed to explore the prevalence of CA in relation to maternal age and perinatal features.MethodsA retrospective study was performed based on provincial birth defects surveillance data. The relative risk (RR) and 95% confidence interval (CI) were used to calculate maternal age-specific rates of CA. Socio-demographic characteristics of mothers and perinatal features were listed.ResultsThe total prevalence of CA was 6.38 per 10,000 births, which increased per 10,000 births linearly from 4.02 in 2011 to 9.13 in 2015 (x 2 line-trend =52.69, p < 0.001). During this period, the prevalence for CA per 10,000 births among women over 35 years old increased from 15.34 in 2011 to 33.82 in 2015 (x 2 line-trend =115121.6, p < 0.001). The RR for overall CA, trisomy 21(T21), trisomy 18(T18) and others in mothers 35 years or older were 6.64 (95% CI 5.55 ~ 7.93), 6.83 (95% CI 5.63 ~ 8.30), 4.06 (95% CI 2.09 ~ 7.90) and 7.54 (95% CI 4.02 ~ 14.11) respectively in comparison to mothers aged 25–29 years old. The stillbirths rate for total CA was 76.45%. T21 and T18 were strongly associated with multiple anomalies, especially congenital heart abnormalities.ConclusionsThe prevalence of CA increased as maternal age increased. Cases with CA were associated with other congenital defects and high mortality risk.

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Section: Discussionmentioning

confidence: 99%

Chromosomal abnormalities: subgroup analysis by maternal age and perinatal features in zhejiang province of China, 2011–2015

et al. 2017

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“…Unlike 46, XX DSD where the cause is usually clear, identification of a cause of XY DSD is often unclear and may be attributed to a disorder of gonadal development, a disorder of androgen synthesis or a disorder of androgen action. Sex chromosome anomalies can be diagnosed prenatally in approximately 1% of pregnancies (5), but the majority of these cases do not present with an overt alteration in the genital development at birth. Given that XY DSD poses the greatest diagnostic and management challenges, the current review has focussed on this group of conditions.…”

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confidence: 99%

The current state of diagnostic genetics for conditions affecting sex development

2017

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Disorders of sex development (DSD), are a group of rare congenital conditions. Unlike 46, XX DSD where the cause is usually clear, identification of a cause of XY DSD is often unclear and may be attributed to a disorder of gonadal development, androgen synthesis or androgen action. Reaching a firm diagnosis is challenging and requires expertise within a framework that abides by the highest standards of clinical care. Whilst conditions associated with altered sex development have improved our fundamental understanding of sex and gonadal development, it is debatable whether this improvement in our understanding has improved the lives of people with DSD. Thus, there is a need for more emphasis on showing that a firm diagnosis for conditions associated with DSD is associated with a change in clinical practice that benefits the patient. With the rapid advances in diagnostic technology, there is also a need for clearer guidance on the relative merits of biochemical vs genetic evaluation. The standardization and harmonization of complex genetic and biochemical analyses for rare conditions are issues that require further guidance and it is probably that international networks and registries for rare conditions will facilitate the development of this framework.

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“…As the scope for non‐invasive prenatal diagnosis (NIPD) using free floating foetal DNA continues to increase, the close involvement of the clinical geneticist at a very early stage in at‐risk pregnancies will become even more important 55 . Abnormalities of sex chromosomes are identified in approximately 1% of all pregnancies that undergo prenatal karyotype and although 40% of these pregnancies may be associated with a termination, early referral for genetic counselling seems to be associated with a lower likelihood of termination 56 …”

Section: The Role Of the Clinical Geneticistmentioning

confidence: 99%

Society for Endocrinology UK Guidance on the initial evaluation of a suspected difference or disorder of sex development (Revised 2021)

Ahmed

Achermann

Alderson

et al. 2021

Clinical Endocrinology

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It is paramount that any child or adolescent with a suspected difference or disorder of sex development (DSD) is assessed by an experienced clinician with adequate knowledge about the range of conditions associated with DSD and is discussed with the regional DSD service. In most cases, the paediatric endocrinologist within this service acts as the first point of contact but involvement of the regional multidisciplinary service will also ensure prompt access to specialist psychology and nursing care. The underlying pathophysiology of DSD and the process of delineating this should be discussed with the parents and affected young person with all diagnostic tests undertaken in a timely fashion. Finally, for rare conditions such as these, it is imperative that clinical experience is shared through national and international clinical and research collaborations.

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The outcome of prenatal identification of sex chromosome abnormalities

Abstract: Abnormalities of sex chromosomes are identified in approximately 1% of all pregnancies that undergo a prenatal karyotype. There is a need to review the prenatal as well as postnatal care of the affected mother and offspring.

Cited by 9 publications

References 32 publications

Chromosomal abnormalities: subgroup analysis by maternal age and perinatal features in zhejiang province of China, 2011–2015

Chromosomal abnormalities: subgroup analysis by maternal age and perinatal features in zhejiang province of China, 2011–2015

The current state of diagnostic genetics for conditions affecting sex development

Society for Endocrinology UK Guidance on the initial evaluation of a suspected difference or disorder of sex development (Revised 2021)

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