Turner Syndrome (45X0)染色體異常病患仍可自然懷孕, 

懷孕率約5%

但胎兒染色體異常率較一般懷孕為高

Hum Reprod. 2016 Feb 13. pii: dew012. [Epub ahead of print]

Spontaneous fertility and pregnancy outcomes amongst 480 women with Turner syndrome.

Bernard V1, Donadille B1, Zenaty D2, Courtillot C3, Salenave S4, Brac de la Perrière A5, Albarel F6, Fèvre A7, Kerlan V8, Brue T6, Delemer B7, Borson-Chazot F5,Carel JC2, Chanson P4, Léger J2, Touraine P3, Christin-Maitre S9; for CMERC Center for Rare Disease.

Author information

Abstract

STUDY QUESTION:

What are the prevalence and the outcomes of spontaneous pregnancies (SP) in a large cohort of French women with Turner syndrome (TS)?

SUMMARY ANSWER:

Amongst 480 women with TS, 27 women (5.6%) had a total of 52 SP, with 30 full-term deliveries for 18 women.

WHAT IS KNOWN ALREADY:

Primary ovarian insufficiency is a classic feature of TS. So far, few studies have evaluated the rate of SP in these patients.

STUDY DESIGN, SIZE, DURATION:

The French Ministry of Health set up a National Reference Centre for Rare Growth Disorders (CRMERC), including TS. We studied a cohort of adult TS patients from seven endocrine units (Saint-Antoine, Pitié-Salpêtrière, Bicêtre, Lyon, Marseille, Brest, Reims Hospitals) belonging to this centre, between January 1999 and January 2014.

PARTICIPANTS/MATERIALS, SETTING, METHODS:

A total of 480 adult patients with TS were included. The patients' clinical characteristics, karyotypes and reproductive histories had been collected, after informed consent, in a web database called CEMARA. Our reference population was issued from a database belonging to the French Health Ministry, collecting pregnancy outcomes in the French general population. In order to find predictive characteristics of SP, TS with spontaneous pregnancies were compared with non-pregnant TS patients from our cohort.

MAIN RESULTS AND THE ROLE OF CHANCE:

There were 27 patients (5.6%) who had a total of 52 SP. The two predictive factors which correlated with occurrence of a SP were spontaneous menarche and mosaic karyotype. The median delay to conception was 6 months (range 0-84). Miscarriage occurred in 16 pregnancies, 30.8% versus 15% in the general French population (P < 0.01). The remaining pregnancy outcomes were legal abortion (n = 2), medical interruption (n = 3), intrauterine fetal death (n = 1) and delivery at term (n = 30). Caesarean section rates were higher than in the general population, respectively 46.7% versus 21% (P < 0.001). Pregnancy-induced hypertensive disorders (PHDs) occurred in four cases (13.3%), including two cases of mild pre-eclampsia (6.7%). Neither aortic root dilatation nor aortic dissection were observed. The median birthweight was 3030 g (range 2020-3460). Two cases of TS were identified in the 17 daughters issued from this cohort.