Prenatally diagnosed Turner syndrome and cystic hygroma: incidence and reasons for referrals.
OBJECTIVE
The objective of this study was to evaluate the incidence and reasons for referrals for prenatally detected Turner syndrome and cystic hygroma cases among prenatal cases performed between 1998 and 2007.


METHODS
In this study 3,595 amniocentesis, chorionic villus and cordocenthesis materials obtained between 1998 and 2007 were evaluated. Among prenatal cases, 23 Turner syndrome cases were also evaluated according to their referral reasons. Among the indications of prenatal cases, cystic hygroma was evaluated according to karyotype results.


RESULTS
Twenty-three cases were Turner Syndrome in which 7 cases were detected to have mosaic pattern. The indications for prenatal diagnosis for the cases were cystic hygroma in 11 cases, missed abortion in 6 cases, advanced maternal age in 5 cases and positive screening test results in 1 case. Among 18 cases having cystic hygroma detected by ultrasonography, 8 cases (44.4%) were found to have a 45,X karyotype, 3 cases were found to be mosaic Turner syndrome (16.7%), 5 cases (27.7%) had normal karyotype, 1 case (5.6%) 47,XX,+13 and 1 case (5.6%) 47,XX,+21.


CONCLUSIONS
The present study indicates the importance of cystic hygroma in prenatal diagnosis of Turner Syndrome and other aneuploidies.
Alpman
Asude
A
Department of Medical Genetics, Ege University Faculty of Medicine, Izmir, Turkey. asude.alpman@ege.edu.tr
Cogulu
Ozgur
O
Akgul
Mehmet
M
Arikan
Esra Ataman
EA
Durmaz
Burak
B
Karaca
Emin
E
Sağol
Sermet
S
Ozkinay
Cihangir
C
Ozkinay
Ferda
F
D000293:Adolescent; D000328:Adult; D002869:Chromosome Aberrations; D005260:Female; D006801:Humans; D015994:Incidence; D018191:Lymphangioma, Cystic / Q000150:complications / Q000175:diagnosis* / Q000453:epidemiology; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012017:Referral and Consultation; D014424:Turner Syndrome / Q000150:complications / Q000175:diagnosis* / Q000453:epidemiology