Pregnancy outcomes of prenatally diagnosed Turner syndrome: a French multicenter retrospective study including a series of 975 cases

被引：20

作者：

Gruchy, N. ^{[1
]}

Vialard, F. ^{[2
]}

Blondeel, E. ^{[2
]}

Le Meur, N. ^{[3
]}

Joly-Helas, G. ^{[4
]}

Chambon, P. ^{[4
]}

Till, M. ^{[5
]}

Herbaut-Graux, M. ^{[6
]}

Vigouroux-Castera, A. ^{[7
]}

Coussement, A. ^{[8
]}

Lespinasse, J. ^{[9
]}

Amblard, F. ^{[10
]}

Jimenez, M. ^{[11
]}

Camille, L. Lebel Roy ^{[12
]}

Carre-Pigeon, F. ^{[13
]}

Flori, E. ^{[14
]}

Mugneret, F. ^{[15
]}

Jaillard, S. ^{[16
]}

Yardin, C. ^{[17
]}

Harbuz, R. ^{[18
]}

Rame, M. Collonge ^{[19
]}

Vago, P. ^{[20
]}

Valduga, M. ^{[21
]}

Leporrier, N. ^{[1
]}

机构：

[1] CHU Cote Nacre, UFR Med Caen, Serv Genet, Lab Cytogenet Prenatale, Caen 9, France

[2] CHI Poissy St Germain, Lab Histol Embryol Biol Reprod Cytogenet & Genet, Versailles, France

[3] Etab Francais Sang Normandie, Bois Guillaume, France

[4] Federat Genet CHU Rouen, Fac Med, Lab Histol Cytogenet & Biol Reprod, Rouen, France

[5] CBPE Hop Lyon, GHE, Cytogenet Serv, Bron 2, France

[6] Lab Biolille, Lille, France

[7] CHU Purpan, Serv Genet Med, Toulouse 9, France

[8] Univ Paris 05, Grp Hosp Cochin St Vincent de Paul, APHP, Fac Med, Paris, France

[9] Hop Chambery, Serv Genet, Chambery, France

[10] CHU Grenoble, Serv Genet Chromosom, F-38043 Grenoble, France

[11] CHRU Tours, Serv Genet UF Cytogenet, Tours 9, France

[12] Lab Biol Med & Cytogenet, Fort De France, France

[13] CHU Reims, Serv Genet HMB, Reims, France

[14] Hop Hautepierre, Cytogenet Serv, Strasbourg, France

[15] CHU Dijon, Lab Cytogenet, Dijon, France

[16] CHU Pontchaillou, Serv Cytogenet & Biol Cellulaire, Rennes 2, France

[17] CHU Limoges, Hop Mere & Enfant, Serv Histol Cytol & Cytogenet, Limoges, France

[18] CHU Poitiers, Serv Genet, Lab Genet Chromosom, Poitiers, France

[19] CHRU Besancon, Hop St Jacques, Serv Genet Biol Histol Biol Dev & Reprod, Besancon, France

[20] CHU Estaing Cytol Histol Embryol Cytogenet, Clermont Ferrand 1, France

[21] CHU Nancy, Serv Cytogenet & Genet Mol, Lab Genet Med, Vandoeuvre Les Nancy, France

来源：

PRENATAL DIAGNOSIS | 2014年 / 34卷 / 12期

关键词：

SEX-CHROMOSOME ANEUPLOIDY; PARENTAL DECISIONS; TERMINATION; MOSAICISM; RATES; 45; X;

D O I：

10.1002/pd.4439

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

ObjectivesThe objectives of this study were to report pregnancy outcomes after prenatal diagnosis of Turner syndrome (TS) and to compare and assess termination of pregnancy rates during two periods. The intervals selected were before and after 1997 when multidisciplinary centers for prenatal diagnosis (MCPDs) were established in France. MethodsA database of 975 cases of TS diagnosed between 1980 and 2012 was created from 21 French cytogenetics laboratories. For each case, the karyotype indication, maternal age, year of prenatal testing, sampling procedure, karyotype, associated ultrasound findings, and outcomes were recorded. ResultsKaryotypes were mainly performed because of abnormal sonographic findings (84%). Before 1997, there were no changes in the rate of termination (90%) of affected fetuses. After 1997, the rate fell to 80%. This decrease was mainly observed in cases of mosaicism, incidental diagnosis, and in later gestations. US abnormalities were more likely to be associated with a full 45,X karyotype. ConclusionThere was an evolution in the way genetic counseling was performed following prenatal diagnosis of Turner syndrome that coincided with the opening of MCPDs in France. This resulted in a decrease in the rate of termination of affected fetuses. (c) 2014 John Wiley & Sons, Ltd.

引用

页码：1133 / 1138

页数：6

共 31 条

[21]

2-2

[22] Outcomes of pregnancies diagnosed with Klinefelter syndrome:: the possible influence of health professionals [J].

Marteau, TM ;

Nippert, I ;

Hall, S ;

Limbert, C ;

Reid, M ;

Bobrow, M ;

Cameron, A ;

Cornel, M ;

van Diem, M ;

Eiben, B ;

García-Miñaur, S ;

Goujard, J ;

Kirwan, D ;

McIntosh, K ;

Soothill, P ;

Verschuuren-Bemelmans, C ;

de Vigan, C ;

Walkinshaw, S ;

Abramsky, L ;

Louwen, F ;

Miny, P ;

Horst, J .

PRENATAL DIAGNOSIS, 2002, 22 (07) :562-566

[23] Factors influencing parental decision making in prenatal diagnosis of sex chromosome aneuploidy [J].

Mezei, G ;

Papp, C ;

Tóth-Pál, E ;

Beke, A ;

Papp, Z .

OBSTETRICS AND GYNECOLOGY, 2004, 104 (01) :94-101

[24] Trisomy 21 Mosaicism and Maternal Age [J].

Morris, Joan K. .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2012, 158A (10) :2482-2484

[25] ULTRASONOGRAPHICALLY DETECTABLE MARKERS OF FETAL CHROMOSOMAL-ABNORMALITIES [J].

NICOLAIDES, KH ;

SNIJDERS, RJM ;

GOSDEN, CM ;

BERRY, C ;

CAMPBELL, S .

LANCET, 1992, 340 (8821) :704-707

[26] Triple X syndrome: a review of the literature [J].

Otter, Maarten ;

Schrander-Stumpel, Constance T. R. M. ;

Curfs, Leopold M. G. .

EUROPEAN JOURNAL OF HUMAN GENETICS, 2010, 18 (03) :265-271

[27] DECISIONS FOLLOWING THE INTRAUTERINE DIAGNOSIS OF SEX-CHROMOSOME ANEUPLOIDY [J].

ROBINSON, A ;

BENDER, BG ;

LINDEN, MG .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1989, 34 (04) :552-554

[28] Prenatal diagnosis of sex chromosome aneuploidy: possible reasons for high rates of pregnancy termination [J].

Sagi, M ;

Meiner, V ;

Reshef, N ;

Dagan, J ;

Zlotogora, J .

PRENATAL DIAGNOSIS, 2001, 21 (06) :461-465

[29] Turner's syndrome in fetal life [J].

Surerus, E ;

Huggon, IC ;

Allan, LD .

ULTRASOUND IN OBSTETRICS & GYNECOLOGY, 2003, 22 (03) :264-267

[30] A syndrome of infantilism, congenital webbed neck, and cubitus valgus [J].

Turner, HH .

ENDOCRINOLOGY, 1938, 23 (05) :566-574

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