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Cited by 187Prenatal Screening and DiagnosticsGenetic and Clinical Aspects of Sex Determination and Chromosomal AbnormalitiesSexual Differentiation and Disorders

Prenatal and postnatal prevalence of Turner's syndrome: a registry study

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Gravholt, Claus Hojbjerg, Juul, Svend, Naeraa, Rune Weis, Hansen, Jan·1996·BMJ
DOI 10.1136/bmj.312.7022.16PMC PMC2349728
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Abstract

Abstract Objective : To study prevalence of Turner's syndrome in Denmark and to assess validity of prenatal diagnosis. Design : Study of data on prenatal and postnatal Turner's syndrome in Danish Cytogenetic Central Register. Subjects : All registered Turner's syndrome karyotypes (100 prenatal cases and 215 postnatal cases) during 1970-93. Main outcome measures : Prevalence of Turner's syndrome karyotypes among prenatally tested fetuses and Turner's syndrome among liveborn infants. Results : Among infant girls, prevalence of Turner's syndrome was 32/100000. Among female fetuses tested by amniocentesis, prevalence of Turner's syndrome karyotypes was 176/100000 (relative risk of syndrome, 6.74 compared with prevalence among untested pregnancies). Among female fetuses tested by chorion villus sampling, prevalence of syndrome karyotypes was 392/100000 (relative risk, 16.8). We excluded prenatal tests referred because of results of ultrasound scanning: among fetuses tested by amniocentesis revised relative risk was 5.68, while revised relative risk among fetuses tested by chorion villus sampling was 13.3. For 29 fetuses with prenatal diagnosis of possible Turner's syndrome, pregnancy was allowed to continue and 24 children were live born. Thirteen of these children were karyotyped postnatally, and diagnosis of Turner's syndrome had to be revised for eight, seven being normal girls and one boy. This gives tentative predictive value of amniocentesis in diagnosing Turner's syndrome of between 21% and 67%. There was no significant relation between mother's age and risk of Turner's syndrome. Conclusions : Discrepancy between prenatal and postnatal prevalence of Turner's syndrome challenges specificity of prenatal examination in diagnosing Turner's syndrome. Key messages Key Messages We used data from the Danish Cytogenetic Central Register to try to estimate whether this reflected a true rise in the prevalence of Turner's syndrome Karyotypes of Turner's syndrome were diagnosed prenatally at a much higher rate than the observed postnatal rate of the syndrome Of 24 children who were live born after prenatal diagnosis of possible Turner's syndrome, 13 were karyotyped postnatally and diagnosis of Turner's syndrome had to be revised for eight, seven being normal girls and one a boy. Discrepancy between prenatal and postnatal prevalence of Turner's syndrome challenges specificity of prenatal examination in diagnosing Turner's syndrome

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Crossref · 10.1136/bmj.312.7022.16

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Authors
Gravholt, C. H., Juul, S., Naeraa, R. W., & Hansen, J.
Affiliations
  • Aarhus University (DK)
  • Aarhus University Hospital (DK)
Venue
BMJ
Publisher
BMJ
Published
1996-01-06
Volume
312
Issue
7022
Pages
16-21
ISSN
  • 0007-1447 (ISSN-L)
  • 0959-8138
  • 1468-5833
DOI
10.1136/bmj.312.7022.16
PMC
PMC2349728
OpenAlex
W2022126521
Cited by
187
References
33
Citations by year
2026: 1 · 2025: 4 · 2024: 7 · 2023: 7 · 2022: 8 · 2021: 2 · 2020: 5 · 2019: 10 · 2018: 8 · 2017: 4 · 2016: 7 · 2015: 10 · 2014: 10 · 2013: 12 · 2012: 7
FWCI
3.54
Type
journal article
Language
en
Open access
Licence
www.bmj.com/company/legal-information/terms-conditions/legal-information/tdm-licencepolicy (tdm)
Locations
  • BMJ (publishedVersion)
  • PubMed Central (publishedVersion)
  • PubMed (publishedVersion)
  • HighWire Press Open Archive (submittedVersion)
Topics
  • Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Prenatal Screening and Diagnostics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
Keywords
Turner syndrome, 45,X karyotype, prenatal diagnosis, amniocentesis, chorionic villus sampling, diagnostic accuracy, prevalence, maternal age, live birth, Denmark
MeSH terms
Adolescent, Adult, Amniocentesis, Child, Child, Preschool, Denmark, Female, Fetal Diseases, Humans, Infant, Infant, Newborn, Karyotyping, Male, Pregnancy, Prenatal Diagnosis, Registries, Risk Factors, Turner Syndrome, Chorionic Villi Sampling, Prevalence

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