Prenatal diagnosis of mosaic trisomy 2: Discrepancy between molecular cytogenetic analyses of uncultured amniocytes and karyotyping of cultured amniocytes in a pregnancy with severe fetal intrauterine growth restriction

Taiwanese Journal of Obstetrics and Gynecology

Volumn 50, Issue 3, 2011, Pages 390-393

  Chen, Chih Ping ^a,b,c,d   Su, Yi Ning ^e   Lin, Shin Yu ^e   Chern, Schu Rern ^a   Chen, Yu Ting ^a   Lee, Meng Shan ^a   Wang, Wayseen ^a,f  

^a MACKAY MEMORIAL HOSPITAL   (Taiwan)

^b ASIA UNIVERSITY   (Taiwan)

^c CHINA MEDICAL UNIVERSITY   (Taiwan)

^d NATIONAL YANG MING UNIVERSITY   (Taiwan)

^e NATIONAL TAIWAN UNIVERSITY HOSPITAL   (Taiwan)

^f TATUNG UNIVERSITY   (Taiwan)

Author keywords

[No Author keywords available]

Indexed keywords

DNA MARKER;

ADULT; AMNIOCENTESIS; AMNION CELL; ARTICLE; CASE REPORT; CHROMOSOME 2Q; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; CYTOGENETICS; DISEASE SEVERITY; FEMALE; FETUS; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DOSAGE; GESTATIONAL AGE; HUMAN; HUMAN CELL; INTRAUTERINE GROWTH RETARDATION; KARYOTYPE 46,XX; KARYOTYPING; MOSAICISM; OLIGOHYDRAMNIOS; POLYMERASE CHAIN REACTION; PREGNANCY OUTCOME; PRENATAL DIAGNOSIS; TRISOMY; TRISOMY 2;

ABNORMAL KARYOTYPE; ADULT; AMNIOCENTESIS; AMNION; CELLS, CULTURED; CHROMOSOMES, HUMAN, PAIR 2; FEMALE; FETAL GROWTH RETARDATION; HUMANS; MOSAICISM; PREGNANCY; PRENATAL DIAGNOSIS; SEVERITY OF ILLNESS INDEX; TRISOMY;

EID: 82455192381     PISSN: 10284559     EISSN: 18756263     Source Type: Journal    
DOI: 10.1016/j.tjog.2011.07.011     Document Type: Article

References (10)

1. Robinson W.P., McFadden D.E., Barrett I.J., Kuchinka B., Peñaherrera M.S., Bruyère H., et al. Origin of amnion and implications for evaluation of the fetal genotype in cases of mosaicism. Prenat Diagn 2002, 22:1076-1085.
2. Hansen W.F., Bernard L.E., Langlois S., Rao K.W., Chescheir N.C., Aylsworth A.S., et al. Maternal uniparental disomy of chromosome 2 and confined placental mosaicism for trisomy 2 in a fetus with intrauterine growth restriction, hypospadias, and oligohydramnios. Prenat Diagn 1997, 17:443-450.
3. Roberts E., Dunlop J., Davis G.S., Churchill D., Davison E.V. A further case of confined placental mosaicism for trisomy 2 associated with adverse pregnancy outcome. Prenat Diagn 2003, 23:564-565.
4. Sifakis S., Staboulidou I., Maiz N., Velissariou V., Nicolaides K.H. Outcome of pregnancies with trisomy 2 cells in chorionic villi. Prenat Diagn 2010, 30:329-332.
5. Harrison K., Eisenger K., Anyane-Yeboa K., Brown S. Maternal uniparental disomy of chromosome 2 in a baby with trisomy 2 mosaicism in amniotic fluid culture. Am J Med Genet 1995, 58:147-151.
6. Webb A.L., Sturgiss S., Warwicker P., Robson S.C., Goodship J.A., Wolstenholme J. Maternal uniparental disomy for chromosome 2 in association with confined placental mosaicism for trisomy 2 and severe intrauterine growth retardation. Prenat Diagn 1996, 16:958-962.
7. Shaffer L.G., Langlois S., McCaskill C., Main D.M., Robinson W.P., Barrett I.J., et al. Analysis of nine pregnancies with confined placental mosaicism for trisomy 2. Prenat Diagn 1996, 16:899-905.
8. Ariel I., Lerer I., Yagel S., Cohen R., Ben-Neriah Z., Abeliovich D. Trisomy 2: confined placental mosaicism in a fetus with intrauterine growth retardation. Prenat Diagn 1997, 17:180-183.
9. Gibbons B., Cheng H.H., Yoong A.K.H., Brown S. Confined placental mosaicism for trisomy 2 with intrauterine growth retardation and severe oligohydramnios in the absence of uniparental disomy in the fetus. Prenat Diagn 1997, 17:689-690.
10. Wolstenholme J., White I., Sturgiss S., Carter J., Plant N., Goodship J.A. Maternal uniparental heterodisomy for chromosome 2: detection through " atypical" maternal AFP/hCG levels, with an update on a previous case. Prenat Diagn 2001, 21:813-817.