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

C H Gravholt, S Juul, R W Naeraa, J Hansen, C H Gravholt, S Juul, R W Naeraa, J Hansen

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 32/100,000. Among female fetuses tested by amniocentesis, prevalence of Turner's syndrome karyotypes was 176/100,000 (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 392/100,000 (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.

References

    1. Endocrinol Metab Clin North Am. 1991 Mar;20(1):121-52
    1. Prenat Diagn. 1990 May;10(5):333-6
    1. J Med Genet. 1991 Mar;28(3):156-8
    1. Hum Genet. 1991 Nov;88(1):49-52
    1. Prenat Diagn. 1991 Aug;11(8):581-9
    1. Hum Genet. 1992 Jan;88(3):288-94
    1. Am J Med Genet. 1992 Feb 15;42(4):487-90
    1. BMJ. 1992 Sep 12;305(6854):609-13
    1. Acta Paediatr. 1994 Mar;83(3):292-8
    1. BMJ. 1994 Jul 9;309(6947):131
    1. Clin Genet. 1995 Jul;48(1):6-11
    1. Hum Genet. 1991 May;87(1):81-3
    1. Ann Genet. 1990;33(1):29-31
    1. Am J Hum Genet. 1990 Jan;46(1):156-67
    1. Hum Genet. 1979 Oct 1;51(2):147-51
    1. Ann Hum Genet. 1990 Jul;54(Pt 3):209-23
    1. Ann Hum Genet. 1974 May;37(4):359-76
    1. Prenat Diagn. 1989 Jun;9(6):439-41
    1. Lancet. 1980 Jan 26;1(8161):167-9
    1. Ann Hum Genet. 1980 May;43(4):355-68
    1. Hum Genet. 1983;64(1):24-7
    1. Am J Hum Genet. 1987 Sep;41(3):484-92
    1. Am J Hum Genet. 1988 Apr;42(4):534-41
    1. Am J Med Genet. 1988 Mar;29(3):565-71
    1. Prenat Diagn. 1989 Feb;9(2):139-40
    1. Prenat Diagn. 1989 Apr;9(4):223-6
    1. Prenat Diagn. 1989 Jul;9(7):467-72
    1. Prenat Diagn. 1989 Sep;9(9):639-47
    1. Acta Paediatr Scand Suppl. 1989;356:77-80; discussion 81
    1. Am J Hum Genet. 1989 Dec;45(6):855-61

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