Sex chromosome trisomies in Europe: Prevalence, prenatal detection and outcome of pregnancy

European Journal of Human Genetics

Volumn 19, Issue 2, 2011, Pages 231-234

  Boyd, Patricia Anne ^a   Loane, Maria ^b   Garne, Ester ^c   Khoshnood, Babak ^d,e   Dolk, Helen ^b  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b UNIVERSITY OF ULSTER   (United Kingdom)

^c KOLDING HOSPITAL   (Denmark)

^d INSERM   (France)

^e SORBONNE UNIVERSITÉ   (France)

Author keywords

prenatal diagnosis; sex chromosome trisomies; termination of pregnancy

Indexed keywords

ADULT; ARTICLE; CONGENITAL MALFORMATION; CYTOGENETICS; DOWN SYNDROME; EUROPE; FETUS DEATH; GESTATIONAL AGE; HUMAN; KARYOTYPE 47,XXX; KARYOTYPE 47,XXY; KARYOTYPE 47,XYY; LIVE BIRTH; POPULATION RESEARCH; PREGNANCY OUTCOME; PREGNANCY TERMINATION; PRIORITY JOURNAL; SEX CHROMOSOME; TRISOMY;

ABORTION, INDUCED; ADULT; CHROMOSOMES, HUMAN, X; CHROMOSOMES, HUMAN, Y; CONGENITAL ABNORMALITIES; DOWN SYNDROME; EUROPE; FEMALE; FETAL DEATH; GENETIC TESTING; HUMANS; INFANT; INFANT, NEWBORN; MALE; POPULATION SURVEILLANCE; PREGNANCY; PREGNANCY OUTCOME; PRENATAL DIAGNOSIS; PREVALENCE; REGISTRIES; SEX CHROMOSOME ABERRATIONS; SEX CHROMOSOME DISORDERS; TRISOMY;

EID: 78651409134     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2010.148     Document Type: Article

References (21)

1. Jacobs PA, Melville M, Ratcliffe S, Keay AJ, Syme J: A cytogenetic survey of 11680 newborn infants. Ann Hum Genet 1974; 37: 359-376.
2. Hamerton JL, Canning N, Ray M, Smith S: A cytogenetic study of 14069 newborn infants. Clin Genet 1975; 8: 223-243.
3. Nielsen J, Sillesen I: Incidence of chromosome aberrations among 11148 newborn children. Humangenetik 1975; 30: 1-12.
4. Morris JK, Alberman E, Scott C, Jacobs P: Is the prevalence of Klinefelter syndrome increasing? Eur J Hum Genet 2008; 16: 163-170.
5. Ratcliffe S: Long term outcome in children of sex chromosome abnormalities. Arch Dis Child 1999; 80: 192-195.
6. Abramsky L, Chapple J: 47,XXY (Klinefelter syndrome) and 47,XYY: estimated rates and indication for postnatal diagnosis with implications for prenatal counseling. Prenatal Diagnosis 1997; 17: 363-368.
7. Linden MG, Bender BG, Robinson A: Genetic counseling for sex chromosome abnormalities. Am J Med Genet 2002; 110: 3-10.
8. Leggett V, Jacobs P, Nation K, Scerif G, Bishop DVM: Neurocognitive outcomes of individuals with a sex chromosome trisomy: XXX, XYY or XXYA systematic review. Dev Med Ch Neurol 2010; 52: 119-129.
9. Otter M, Schrander-Stumpel CTRM, Curfs LMG: Triple X syndrome: a review of the literature. Eur J Hum Genet 2009; 18: 265-271.
10. Bishop DV, Jacobs PA, Lachlan K et al: Autism spectrum disorders, language and communication in children with sex chromosome trisomies. Arch Dis Child 2010, e-pub ahead of print 23 July 2010.
11. Abramsky L, Hall S, Levitan J, Marteau TM: What parents are told after prenatal diagnosis of a sex chromosome abnormality: interview and questionnaire study. BMJ 2001; 322: 463-466.
12. Forrester MB, Merz RD: Pregnancy outcome and prenatal diagnosis of sex chromosome abnormalities in Hawaii, 1986-1999. Am J Med Genet Part A 2003; 199: 305-310.
13. Marteau TM, Nippert I, Hall S et al: Outcomes of pregnancies diagnosed with Klinefelter syndrome: the possible influence of health professionals. Prenat Diagn 2002; 22: 562-566.
14. Brun JL, Gangbo F, Wen ZQ et al: Prenatal diagnosis and management of sex trisomy aneuploidy: a report of 98 cases. Prenat Diagn 2004; 24: 213-218.
15. Mezei G, Papp C, Toth-Pal E, Beke A, Papp Z: Factors influencing parental decision in prenatal diagnosis of sex chromosome aneuploidy. Obstet Gynecol 2004; 104: 94-101.
16. Boyd PA, DeVigan C, Khoshnood B, Loane M, Garne E, Dolk H, The EUROCAT Working Group: Survey of prenatal screening policies in Europe for structural malformations and chromosome anomalies, and their impact on detection and termination rates for neural tube defects and Down's syndrome. BJOG 2008; 115: 689-696.
17. Ferguson-Smith MA, Yates JRW: Maternal age specific rates for chromosome aberrations and factors influencing them: report of a collaborative European study on 52965 amniocenteses. Prenat Diagn 1984; 4: 5-44.
18. EUROCAT, http://www.eurocat-network.eu.
19. Garne E, Khoshnood B, Loane M, Boyd P, Dolk H, EUROCAT working group: Termination of pregnancy for fetal anomaly after 23 weeks of gestation: a European registerbased study. BJOG 2010; 117: 660-666.
20. Ekelund CK, Jorgensen FS, Petersen OB, Sundberg K, Tabor A, Danish Fetal Medicine Research Group: Impact of a new national screening policy for Down's syndrome in Denmark: population based cohort study. BMJ 2008; 337: a2547.
21. Lo YM: Non-invasive prenatal detection of fetal chromosomal aneuploidies by maternal plasma nucleic acid analysis: a review of the current state of the art. BJOG 2009; 116: 152-157.