Leeds Fetal Medicine Unit Website

Turner's Syndrome

Definition	Deficiency or absence of an X chromosome leading to chromosome structure 45X0 (rather than 46XX (female) or 46XY (male)
Incidence	1:3000 live femal births
Diagnosis	Can only occur after karyotyping Ultrasound features may be suggestive Thickened nuchal translucency in first trimester or septated cystic hygroma in second trimester. Rarely prenatally diagnosed coarctation of the aorta Rarely horshoe kidney
Gestation at diagnosis	11 weeks onwards following CVS
Known chromosomal or genetic association	Yes, 45XO 80% full karyotype, 15% mosaic, 5% deletion of one part of chromosome X
Further investigations	Karyotype for definitive diagnosis, Fetal ECHO if pregnancy continues
Differential Diaganosis	Down's syndrome Noonan syndrome
Prognosis	If survive pregnancy good with specific problems (see TSS website below)
Recurrance risk	Very low
Research Studies

Further information for clinicians please click here

Patient information leaflet please click here

Link to the Turner's syndrome society (TSS) website providing information on the condition from those living with it (please click here)

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