INDICATIONS FOR REFERRAL OF TURNERíS 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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