Balkan Journal of Medical Genetics

INDICATIONS FOR REFERRAL OF TURNER’S SYNDROME CASES DIAGNOSED PRENATALLY
Yilmaz B1,*, Ozkinay F2, Ercal D3, Sagol S4, Kanit H5, Kirayoglu H1, Ozkinay C2
*Corresponding Author: Assistant Professor Dr. Berna Yilmaz, Gene-Test Genetic Diagnostic Centre, Talatpasa Bulv. No: 33/6, 35520 Alsancak-Izmir, Turkey; Tel.: +90-232-463-45-45; Fax: +90-232-464-65-33; E-mail: bernaylmz@hotmail.com
page: 27

RESULTS

The most frequent indications for prenatal diagnostic intervention were cystic hygroma (6/17) and hydrops fetalis (4/17) (Table 1). Other indications were advanced maternal age (4/17), abnormal triple test results (2/17) and fetal growth retardation (1/17) (Table 1).
The average maternal age was 29.58 (range: 20-41) years. The average gestational age was 16 (range: 14-18) weeks. In two cases, kordocentesis was performed at the 16th and 23rd week of gestation.
A 45,X karyotype was detected in 14 cases, while three showed a mosaic form of TS, i.e., 45,X0/46,XX, 45,X0/46,XY and 45,X0/46,X,del (X)(q21;qter), respectively.
In all non mosaic cases of TS, the parents decided to terminate the pregnancy. One of the mosaic cases aborted spontaneously after amniocentesis. The other mosaic cases were lost to follow-up. The karyotypes, indications, gestational age, maternal age and pregnancy outcome are presented in Table 1.

Table 1. Characteristics of fetuses with Turner syndrome.

Case	Karyotype	Indications for Prenatal Diagnosis	Gestational Age (weeks)	Maternal Age	Pregnancy Outcome
1	45,X0	Cystic hygroma	14 (AS)	23	Terminated
2	45,X0	Cystic hygroma	16 (AS)	22	Terminated
3	45,X0	Cystic hygroma	15 (AS)	32	Terminated
4	45,X0	Cystic hygroma	15 (AS)	31	Terminated
5	45,X0	Cystic hygroma	15 (AS)	20	Terminated
6	45,X0	Cystic hygroma	16 (FB)	24	Terminated
7	45,X0	Hydrops fetalis	15 (AS)	26	Terminated
8	45,X0	Hydrops fetalis	18 (AS)	30	Terminated
9	45,X0	Hydrops fetalis	16 (AS)	26	Terminated
10	45,X0	Hydrops fetalis	14 (AS)	21	Terminated
11	45,X0	Advanced maternal age	18 (AS)	38	Terminated
12	45,X0	Advanced maternal age	16 (AS)	41	Terminated
13	45,X0/46,X,del(X)(q21:qter)	Advanced maternal age	16 (AS)	40	Lost to follow-up
14	45,X0/46,XY	Advanced maternal age	17 (AS)	40	Lost to follow-up
15	45,X0/46,XX	Abnormal triple test	17 (AS)	30	Spontaneous abortion after AS
16	45,X0	Abnormal triple test	17 (AS)	30	Terminated
17	45,X0	Fetal growth retardation	23 (FB)	29	Terminated

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