Comparison of modes of ascertainment for mosaic vs complete trisomy 21

被引：18

作者：

Bornstein, Eran ^{[1
]}

Lenchner, Erez ^{[3
]}

Donnenfeld, Alan ^{[5
]}

Kapp, Sara ^{[2
]}

Keeler, Sean M. ^{[1
]}

Divon, Michael Y. ^{[4
]}

机构：

[1] NYU, Sch Med, Dept Obstet & Gynecol, Div Maternal Fetal Med, New York, NY 10003 USA

[2] NYU, Sch Med, Human Genet Program, New York, NY USA

[3] NYU, Stat & Mapping Lab, New York, NY USA

[4] Lenox Hill Hosp, Dept Obstet & Gynecol, New York, NY 10021 USA

[5] Genzyme Genet, Philadelphia, PA USA

来源：

AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY | 2009年 / 200卷 / 04期

关键词：

Down syndrome; mosaic; prenatal diagnosis; trisomy; 21; FETAL NUCHAL-TRANSLUCENCY; HUMAN CHORIONIC-GONADOTROPIN; ADVANCED MATERNAL AGE; DOWN-SYNDROME; CHROMOSOMAL-ABNORMALITIES; SONOGRAPHIC MARKERS; GENETIC SONOGRAM; RISK-ASSESSMENT; 1ST-TRIMESTER; 2ND-TRIMESTER;

D O I：

10.1016/j.ajog.2009.01.017

中图分类号：

R71 [妇产科学];

学科分类号：

100211 ;

摘要：

OBJECTIVE: We sought to compare the indications for amniocentesis leading to the detection of either mosaicism of trisomy 21 (mosaic-T21) or complete trisomy 21 (T21). STUDY DESIGN: A retrospective review of a large amniocentesis database (n = 494,163) was conducted. All specimens with mosaic-T21 (n = 124) were compared with a maternal age-matched group of T21 fetuses (n = 496). Samples with normal karyotypes were matched for maternal age and served as normal controls (n = 496). The chi(2) testing was used for statistical analysis. RESULTS: The presence of an abnormal first-trimester screen, abnormal sonographic findings, and specifically the single sonographic abnormalities of either a cystic hygroma or a cardiac anomaly were significantly less common in the mosaic-T21 as compared with the T21 group. There were no such differences between the mosaic-T21 and the normal control group. CONCLUSION: Fetuses with mosaic-T21, similar to those with normal karyotype, do not present with the same abnormal screening tests as fetuses with T21.

引用

页码：440.e1 / 440.e5

页数：5

共 41 条

[1] PARENTAL ORIGIN OF THE EXTRA CHROMOSOME IN TRISOMY-21 AS INDICATED BY ANALYSIS OF DNA POLYMORPHISMS [J].

ANTONARAKIS, SE .

NEW ENGLAND JOURNAL OF MEDICINE, 1991, 324 (13) :872-876

[2] First-trimester screening for Down syndrome with ductus venosus Doppler studies in addition to nuchal translucency and serum markers [J].

Borrell, A ;

Gonce, A ;

Martinez, JM ;

Borobio, V ;

Fortuny, A ;

Coll, O ;

Cuckle, H .

PRENATAL DIAGNOSIS, 2005, 25 (10) :901-905

[3] Discordant prenatal diagnosis of trisomy 21 due to mosaic structural rearrangements of chromosome 21 [J].

Brisset, S ;

Aboura, A ;

Audibert, F ;

Costa, JM ;

L'Herminé, AC ;

Gautier, V ;

Frydman, R ;

Tachdjian, G .

PRENATAL DIAGNOSIS, 2003, 23 (06) :461-469

[4]

BRODEUR GM, 1980, BLOOD, V55, P691

[5]

Centers for Disease Control and Prevention (CDC), 2006, MMWR Morb Mortal Wkly Rep, V54, P1301

[6] Integrated ultrasound and biochemical screening for trisomy 21 using fetal nuchal translucency, absent fetal nasal bone, free β-hCG and PAPP-A at 11 to 14 weeks [J].

Cicero, S ;

Bindra, R ;

Rembouskos, G ;

Spencer, K ;

Nicolaides, KH .

PRENATAL DIAGNOSIS, 2003, 23 (04) :306-310

[7] Biochemical screening for Down syndrome [J].

Cuckle, H .

EUROPEAN JOURNAL OF OBSTETRICS GYNECOLOGY AND REPRODUCTIVE BIOLOGY, 2000, 92 (01) :97-101

[8] Contingent screening for Down syndrome - results from the FaSTER trial [J].

Cuckle, Howard S. ;

Malone, Fergal D. ;

Wright, David ;

Porter, T. Flint ;

Nyberg, David A. ;

Comstock, Christine H. ;

Saade, George R. ;

Berkowitz, Richard L. ;

Ferreira, Jose C. ;

Dugoff, Lorraine ;

Craigolo, Sabrina D. ;

Timor, Ilan E. ;

Carr, Stephen R. ;

Wolfe, Honor M. ;

D'Alton, Mary E. .

PRENATAL DIAGNOSIS, 2008, 28 (02) :89-94

[9] Mosaic Down's syndrome prevalence in a complete population study [J].

Devlin, L ;

Morrison, PJ .

ARCHIVES OF DISEASE IN CHILDHOOD, 2004, 89 (12) :1177-1178

[10]

DeVore GR, 2001, PRENATAL DIAG, V21, P40, DOI 10.1002/1097-0223(200101)21:1<40::AID-PD980>3.0.CO

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