Cited by 139Prenatal Screening and DiagnosticsEthics and Legal Issues in Pediatric HealthcareSexual Differentiation and Disorders

Decision to abort after a prenatal diagnosis of sex chromosome abnormality: a systematic review of the literature

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Jeon, Kwon Chan, Chen, Lei-Shih, Goodson, Patricia·2012·Genetics in Medicine

Abstract

We performed a systematic review of factors affecting parental decisions to continue or terminate a pregnancy after prenatal diagnosis of a sex chromosome abnormality, as reported in published studies from 1987 to May 2011. Based on the Matrix Method for systematic reviews, 19 studies were found in five electronic databases, meeting specific inclusion/exclusion criteria. Abstracted data were organized in a matrix. Alongside the search for factors influencing parental decisions, each study was judged on its methodological quality and assigned a methodological quality score. Decisions either to terminate or to continue a sex chromosome abnormality-affected pregnancy shared five similar factors: specific type of sex chromosome abnormality, gestational week at diagnosis, parents' age, providers' genetic expertise, and number of children/desire for (more) children. Factors unique to termination decisions included parents' fear/anxiety and directive counseling. Factors uniquely associated with continuation decisions were parents' socioeconomic status and ethnicity. The studies' average methodological quality score was 10.6 (SD = 1.67; range, 8-14). Findings from this review can be useful in adapting and modifying guidelines for genetic counseling after prenatal diagnosis of a sex chromosome abnormality. Moreover, improving the quality of future studies on this topic may allow clearer understanding of the most influential factors affecting parental decisions.

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  • Several factors influence prospective parents' decision to continue or terminate a pregnancy with a TS fetus, including fetal ultrasound abnormalities, incidental findings, presence or absence of mosaicism, gestational age at diagnosis, parental age, number of previous children, possibility of infertility, parents' fear/anxiety, parents' socioeconomic status and religious background, ethnicity,遗传学

    “Several factors have been found to influence the prospective parents’ decision to continue or terminate a pregnancy with a TS fetus.”
  • In countries where termination of pregnancy is allowed, rates of termination of pregnancy following prenatal diagnosis of TS vary between 15.4% and 100%.

    “In countries where termination of pregnancy is allowed, rates of termination of pregnancy following prenatal diagnosis of TS vary between 15.4% and 100%.59,81,82”

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Research works printed but not linked: 5

  1. Hassold T, Abruzzo M, Adkins K, et al. Human aneuploidy: incidence, origin, and etiology. Environ Mol Mutagen 1996;28:167-175.
  2. systematic review
  3. Christian SM, Koehn D, Pillay R, MacDougall A, Wilson RD. Parental decisions following prenatal diagnosis of sex chromosome aneuploidy: a trend over time. Prenat Diagn 2000;20:37-40.
  4. Garrard J. Health Sciences Literature Review Made Easy: The Matrix Method, 2nd edn. Jones and Bartlett Publishers: Sudbury, MA, 2006.
  5. Meschede D, Louwen F, Nippert I, Holzgreve W, Miny P, Horst J. Low rates of pregnancy termination for prenatally diagnosed Klinefelter syndrome and other sex chromosome polysomies. Am J Med Genet 1998;80:330-334.

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Authors
Jeon, K. C., Chen, L.-S., & Goodson, P.
Affiliations
Texas A&M University (US)
Corresponding author
Jeon, Kwon Chan
Venue
Genetics in Medicine
Publisher
Elsevier BV
Published
2012-01
Volume
14
Issue
1
Pages
27-38
ISSN
1098-3600 (ISSN-L)
OpenAlex
W2091333572
Cited by
139
References
39
Citations by year
2026: 3 · 2025: 21 · 2024: 10 · 2023: 4 · 2022: 13 · 2021: 7 · 2020: 5 · 2019: 7 · 2018: 37 · 2017: 2 · 2016: 4 · 2015: 8 · 2014: 4 · 2013: 6 · 2012: 7
FWCI
1.25
Type
journal article
Language
en
Open access
Locations
  • Genetics in Medicine (publishedVersion)
  • PubMed (publishedVersion)
Topics
  • Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Prenatal Screening and Diagnostics
  • Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Ethics and Legal Issues in Pediatric Healthcare
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
Keywords
sex chromosome abnormalities, prenatal diagnosis, abortion, continuation of pregnancy, parental decision-making, genetic counseling, gestational age at diagnosis, parental age, socioeconomic status, ethnicity, fear and anxiety, desire for more children
MeSH terms
Abortion, Induced, Decision Making, Female, Humans, Parents, Pregnancy, Pregnancy Outcome, Prenatal Diagnosis, Sex Chromosome Aberrations

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