Prenatal Diagnosis of Sex Chromosome Abnormalities

Milunsky, Jeff M.

doi:10.1002/9781119676980.ch12

Cited by 2 publications

(2 citation statements)

References 444 publications

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“…Early identification of Turner syndrome facilitates administration of growth hormone beginning in childhood, 46 Klinefelter neonates can benefit from early androgen therapy 47 and for all sex chromosome abnormalities an early diagnosis may help with the management of educational, psychosocial aspects, and the creation of a supportive environment. 48 The American College of Medical Genetics and Genomics (ACMG) recommends offering screening for sex chromosome abnormalities. 49 Where provided, there will be cases where there will be discordancy between the fetal sex indicated by ultrasound and those assigned by NIPT.…”

Section: Sex Chromosome Abnormalitiesmentioning

confidence: 99%

“…The use of cf-DNA testing for sex chromosome abnormalities is often dependent on national policies and concerns over the use of the testing to predict fetal sex. Early identification of Turner syndrome facilitates administration of growth hormone beginning in childhood, 46 Klinefelter neonates can benefit from early androgen therapy 47 and for all sex chromosome abnormalities an early diagnosis may help with the management of educational, psychosocial aspects, and the creation of a supportive environment 48 . The American College of Medical Genetics and Genomics (ACMG) recommends offering screening for sex chromosome abnormalities 49 …”

Section: Chromosome Abnormalities Detectable By Niptmentioning

confidence: 99%

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Overview of Noninvasive Prenatal Testing (NIPT) for the Detection of Fetal Chromosome Abnormalities; Differences in Laboratory Methods and Scope of Testing

BENN,

CUCKLE

2023

Clinical Obstetrics &Amp; Gynecology

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Although nearly all noninvasive prenatal testing is currently based on analyzing circulating maternal cell-free DNA, the technical methods usedvary considerably. We review the different methods. Based on validation trials and clinical experience, there are mostly relatively small differences in screening performance for trisomies 21, 18, and 13 in singleton pregnancies. Recent reports show low no-call rates for all methods, diminishing its importance when choosing a laboratory. However, method can be an important consideration for twin pregnancies, screening for sex chromosome abnormalities, microdeletion syndromes, triploidy, molar pregnancies, rare autosomal trisomies, and segmental imbalances, and detecting maternal chromosome abnormalities.

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Section: Sex Chromosome Abnormalitiesmentioning

confidence: 99%

Section: Chromosome Abnormalities Detectable By Niptmentioning

confidence: 99%

Overview of Noninvasive Prenatal Testing (NIPT) for the Detection of Fetal Chromosome Abnormalities; Differences in Laboratory Methods and Scope of Testing

BENN,

CUCKLE

2023

Clinical Obstetrics &Amp; Gynecology

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Policy and laboratory practice: How quality control procedures for genetic testing perpetuate biological essentialism and discrimination against transgender, gender diverse, and intersex people

Dusic,

Powers,

Clowes Candadai

et al. 2024

Journal of Genetic Counseling

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Transgender, gender diverse, and intersex (TGDI) individuals face significant health disparities due to individual and systemic experiences of discrimination, impacting their access to healthcare. While clinical genetic testing has become increasingly accessible to the general population, the field of clinical genetics perpetuates a narrative of biological essentialism, which creates barriers for TGDI patients. Biological essentialism upholds that sex is a binary, fixed, and innate characteristic, a misconception that has been historically weaponized against the TGDI community in both individual experiences of discrimination and anti‐trans legislation, among other systemic forms of oppression. Rejecting this discriminatory framework requires careful consideration of, and changes to, long‐established practices that often go unquestioned, such as quality control metrics in genetic testing, in order to improve TGDI patients' outcomes and access to genetic services. The sex‐check, comparing an individuals reported sex against their sex chromosomes, is an example of how laboratory genetics practices reinforce the narrative that sex is determined purely by chromosomal composition. Additionally, the sex‐check “outs” TGDI people in clinical settings, creating a discriminatory and unsafe environment for these patients. Alternative quality control procedures and inclusive practices, such as clearer delineation of sex and gender on test requisition forms, are proposed to improve TGDI patient experiences. Genetic counselors and other clinical providers have a responsibility to address historical discrimination and advocate for changes to laboratory practice, so as to create affirming experiences for TGDI patients.

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Prenatal Diagnosis of Sex Chromosome Abnormalities

Cited by 2 publications

References 444 publications

Overview of Noninvasive Prenatal Testing (NIPT) for the Detection of Fetal Chromosome Abnormalities; Differences in Laboratory Methods and Scope of Testing

Overview of Noninvasive Prenatal Testing (NIPT) for the Detection of Fetal Chromosome Abnormalities; Differences in Laboratory Methods and Scope of Testing

Policy and laboratory practice: How quality control procedures for genetic testing perpetuate biological essentialism and discrimination against transgender, gender diverse, and intersex people

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