Editing Turner syndrome (section)

== Diagnosis ==

=== Prenatal ===
[[File:45,X.jpg|thumb|right|45,X [[karyotype]], showing an unpaired X at the lower right]]
Turner syndrome may be diagnosed by [[amniocentesis]] or [[chorionic villus sampling]] during pregnancy.

Usually, fetuses with Turner syndrome can be identified by abnormal [[ultrasound]] findings (''i.e.'', heart defect, kidney abnormality, [[cystic hygroma]], [[ascites]]). In a study of 19 European registries, 67.2% of prenatally diagnosed cases of Turner syndrome were detected by abnormalities on ultrasound. 69.1% of cases had one anomaly present, and 30.9% had two or more anomalies.<ref name="turner-syndrom.dk">{{cite journal | vauthors = Saygin D, Tabib T, Bittar HE, Valenzi E, Sembrat J, Chan SY, Rojas M, Lafyatis R | title = Transcriptional profiling of lung cell populations in idiopathic pulmonary arterial hypertension | journal = Pulmonary Circulation | volume = 10 | issue = 1 | pages = 26–29 | year = 2006 | pmid = 32166015 | doi = 10.1016/j.ics.2006.07.005 | pmc = 7052475 }}</ref>

An increased risk of Turner syndrome may also be indicated by abnormal triple or quadruple maternal serum screen. The fetuses diagnosed through positive maternal serum screening are more often found to have a mosaic karyotype than those diagnosed based on ultrasonographic abnormalities, and conversely, those with mosaic karyotypes are less likely to have associated ultrasound abnormalities.<ref name="turner-syndrom.dk" />

=== Postnatal ===
Turner syndrome can be diagnosed postnatally at any age. Often, it is diagnosed at birth due to heart problems, an unusually wide neck or swelling of the hands and feet. However, it is also common for it to go undiagnosed for several years, often until the girl reaches the age of puberty and fails to develop typically (the changes associated with puberty do not occur). In childhood, a short stature can be indicative of Turner syndrome.<ref>{{cite web |title=Turner Syndrome Symptoms, Treatment, Causes – What are the symptoms for Turner syndrome?|url=http://www.medicinenet.com/turner_syndrome/page2.htm#tocd |url-status=live |archive-url=https://web.archive.org/web/20120218075158/http://www.medicinenet.com/turner_syndrome/page2.htm#tocd |archive-date=18 February 2012}}</ref>

A test called a [[karyotype]], also known as a chromosome analysis, analyzes the chromosomal composition of the individual. This is the test of choice to diagnose Turner syndrome.<ref name="Turner Syndrome">{{cite web |title=Turner syndrome - Diagnosis and treatment |url=https://www.mayoclinic.org/diseases-conditions/turner-syndrome/diagnosis-treatment/drc-20360783 |website=Mayo Clinic |access-date=28 October 2021}}</ref><ref>{{cite book |doi=10.1007/978-3-030-34150-3_2 |chapter=The Genetics of Turner Syndrome |title=Turner Syndrome |date=2020 |last1=Adam |first1=Margaret P. |last2=Manning |first2=Melanie A. |pages=13–31 |isbn=978-3-030-34148-0 }}</ref>