Prenatal diagnosis of sex chromosome aneuploidy—What do we tell the prospective parents?

Reimers, Rebecca; High, F. W.; Kremen, Jessica; Wilkins‐Haug, Louise

doi:10.1002/pd.6256

Cited by 6 publications

(7 citation statements)

References 82 publications

(246 reference statements)

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“…Although fertilization of an oocyte by a sperm without a sex chromosome has been reported, more commonly a sex chromosome is lost or gained during early cell divisions in the embryonic tissues or later. The lack of a maternal age effect for 45X is unique among the SCA as 47,XXX and 47,XXY do display associations with increasing mental age 3 …”

Section: Definition Of Sex Chromosome Aneuploidymentioning

confidence: 98%

“…Such X-inactivation and a higher guanine-cytosine content of the X chromosome may further contribute to the instability of the sex chromosome pair. 3 The higher rate of mitotic errors in SCA are highlighted by the lack of a maternal age association with 45,X. Most cases of 45,X are the result of loss of the paternal X.…”

Section: Definition Of Sex Chromosome Aneuploidymentioning

confidence: 99%

“…The lack of a maternal age effect for 45X is unique among the SCA as 47,XXX and 47,XXY do display associations with increasing mental age. 3 Challenges With NIPT Screening for SCA-What Is the Phenotype?…”

Section: Definition Of Sex Chromosome Aneuploidymentioning

confidence: 99%

“…Furthermore, the X chromosome is inactivated in early embryogenesis leading to only 1 X chromosome with active gene function in later cells regardless of the starting number. Such X-inactivation and a higher guanine-cytosine content of the X chromosome may further contribute to the instability of the sex chromosome pair 3 …”

Section: Definition Of Sex Chromosome Aneuploidymentioning

confidence: 99%

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Unique Challenges of NIPT for Sex Chromosome Aneuploidy

WILKINS-HAUG,

REIMERS

2023

Clinical Obstetrics &Amp; Gynecology

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Noninvasive prenatal testing (NIPT) for the sex chromosome aneuploidies (45,X, 47,XXY, 47,XXX, and 47,XYY) differs significantly from that for the autosomal aneuploidies (trisomy 13, 18, and 21). As a group, sex chromosome aneuploidies occur more commonly (1/400) than any one isolated autosomal aneuploidy, the phenotypic variation is greater, the role of mosaicism more challenging, and the positive predictive value of a high-risk NIPT result is substantially lower. These considerations should be identified during pretest counseling, the inclusion of sex chromosome testing offered separately, and the differences from autosomal aneuploidy NIPT clearly delineated.

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Section: Definition Of Sex Chromosome Aneuploidymentioning

confidence: 98%

Section: Definition Of Sex Chromosome Aneuploidymentioning

confidence: 99%

Section: Definition Of Sex Chromosome Aneuploidymentioning

confidence: 99%

Section: Definition Of Sex Chromosome Aneuploidymentioning

confidence: 99%

See 2 more Smart Citations

Unique Challenges of NIPT for Sex Chromosome Aneuploidy

WILKINS-HAUG,

REIMERS

2023

Clinical Obstetrics &Amp; Gynecology

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“…One addresses the most common SCAs, 14 and the other focusses specifically on 47,XXY. 15 A third review paper on reproductive outcomes for individuals with Turner syndrome highlights the progress made in reproductive care and provides up to date information for both fertility and prenatal counseling. 16 We hope that you find this issue both timely and informative.…”

mentioning

confidence: 99%

Prenatal screening and diagnosis of sex chromosome conditions: The new normal?

Hui

Langlois

2023

Prenatal Diagnosis

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In this era of noninvasive prenatal testing (NIPT) with maternal plasma cell-free DNA (cf-DNA), prenatal screening and diagnosis of sex chromosome aneuploidy (SCAs) is increasingly part of our clinical practice. This development, facilitated by the technological advances in NIPT, has been enthusiastically embraced in many settings, though not universally. In this special topic issue of Prenatal Diagnosis, we address the many clinical, ethical, and technical aspects of prenatal testing for sex chromosome conditions.How well does NIPT perform for the SCAs? In this issue, Shear at al. have conducted a systematic review and meta-analysis of cfDNA testing for fetal SCA, which provides readers with updated performance metrics that will be useful for counseling and clinical practice guidelines. 1 While there is variation in test performance depending on the specific SCA involved, NIPT for the two most common SCAs, 45X and 47, XYY is now recognized to have high sensitivity and specificity. Indeed, the American College of Medical Genetics and Genomics has recently updated their practice guideline on prenatal screening to strongly recommend that SCA screening with NIPT be offered to all women with singleton pregnancies. 2 The popularity of SCA screening with NIPT is already widespread, as shown by Steffensen et al. who conducted a global survey of current practices across Europe, Asia, Australia, and the USA. 3 The impact of SCA screening is already evident in Australia, where a population-based study has demonstrated a significant increase in the prenatal detection of SCAs, most notably 47,XXY, since the availability of NIPT. 4 In concert with these trends, we continue to integrate information about fetal sex chromosomes with prenatal ultrasound findings, including the assessment of atypical genitalia, 5 management of suspected X chromosome variants and monosomy X, 6 and expanding knowledge about the prenatal phenotype of 45,X 7 and 47,XXY. 8 Furthermore, Scarff et al.

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Clinical practice guidelines for the care of girls and women with Turner syndrome

Gravholt,

Andersen,

Christin-Maitre

et al. 2024

European Journal of Endocrinology

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Turner syndrome affects 50 per 100,000 females, affects multiple organs through all stages of life, necessitating multidisciplinary care. This guideline extends previous ones and includes important new advances, within diagnostics and genetics, estrogen treatment, fertility, co-morbidities, and neurocognition and neuropsychology. Exploratory meetings were held in 2021 in Europe and US culminating with a consensus meeting in Aarhus, Denmark in June 2023. Prior to this, eight groups addressed important areas in TS care: 1) diagnosis and genetics, 2) growth, 3) puberty and estrogen treatment, 4) cardiovascular health, 5) transition, 6) fertility assessment, monitoring, and counselling, 7) health surveillance for comorbidities throughout the lifespan, and 8) neurocognition and its implications for mental health and well-being. Each group produced proposals for the present guidelines, which were meticulously discussed by the entire group. Four pertinent questions were submitted for formal GRADE (Grading of Recommendations, Assessment, Development and Evaluation) evaluation with systematic review of the literature. The guidelines project was initiated by the European Society for Endocrinology and the Pediatric Endocrine Society, in collaboration with members from the European Society for Pediatric Endocrinology, the European Society of Human Reproduction and Embryology, the European Reference Network on Rare Endocrine Conditions, the Society for Endocrinology, and the European Society of Cardiology, Japanese Society for Pediatric Endocrinology, Australia and New Zealand Society for Pediatric Endocrinology and Diabetes, Latin American Society for Pediatric Endocrinology, Arab Society for Pediatric Endocrinology and Diabetes, and the Asia Pacific Pediatric Endocrine Society. Advocacy groups appointed representatives for pre-meeting discussions and the consensus meeting.

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Prenatal diagnosis of sex chromosome aneuploidy—What do we tell the prospective parents?

Cited by 6 publications

References 82 publications

Unique Challenges of NIPT for Sex Chromosome Aneuploidy

Unique Challenges of NIPT for Sex Chromosome Aneuploidy

Prenatal screening and diagnosis of sex chromosome conditions: The new normal?

Clinical practice guidelines for the care of girls and women with Turner syndrome

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