A comparison of molecular and cytogenetic techniques for the diagnosis of pregnancy loss

Genetics in Medicine

Volumn 13, Issue 1, 2011, Pages 46-51

  Caramins, Melody C ^a,c   Saville, Toni ^a   Shakeshaft, Rebecca ^a   Mullan, Glenda L ^a   Miller, Briar ^a   Yip, Moh Ying ^a   Buckley, Michael F ^a,b  

^a PRINCE OF WALES HOSPITAL   (Australia)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c South Eastern Area Laboratory Services   (Australia)

Author keywords

cytogenetics; genetic diagnosis; multiplex ligation dependant probe amplification; products of conception; recurrent pregnancy loss

Indexed keywords

ARTICLE; CONCEPTION; CONTROLLED STUDY; CYTOGENETICS; DIAGNOSTIC ACCURACY; DIAGNOSTIC TEST ACCURACY STUDY; FALSE NEGATIVE RESULT; FALSE POSITIVE RESULT; FEMALE; GENE REARRANGEMENT; HUMAN; HUMAN TISSUE; KARYOTYPING; MAJOR CLINICAL STUDY; MALE; MOLECULAR GENETICS; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; POLYPLOIDY; RECURRENT DISEASE; ROBERTSONIAN CHROMOSOME TRANSLOCATION; SENSITIVITY AND SPECIFICITY; SPONTANEOUS ABORTION; UNCERTAINTY;

ABORTION, HABITUAL; ANEUPLOIDY; CYTOGENETIC ANALYSIS; FEMALE; GENETIC TECHNIQUES; HUMANS; KARYOTYPING; MOSAICISM; NUCLEIC ACID AMPLIFICATION TECHNIQUES; POLYPLOIDY; PREGNANCY; SENSITIVITY AND SPECIFICITY;

ROBERTSONIA;

EID: 78751610782     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/GIM.0b013e3181faa0d2     Document Type: Article

References (6)

1. Rai R, Regan L. Recurrent miscarriage. Lancet 2006;368:601-611.
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4. Lomax B, Tang S, Separovic E, et al. Comparative genomic hybridization in combination with flow cytometry improves results of cytogenetic analysis of spontaneous abortions. Am J Hum Genet 2000;66:1516-1521.
5. Diego-Alvarez D, Rodriguez de Alba M, Cardero-Merlo R, et al. MLPA as a screening method of aneuploidy and unbalanced chromosomal rearrangements in spontaneous miscarriages. Prenat Diagn 2007;27:765-771.
6. Bruno DL, Burgess T, Ren H, et al. High-throughput analysis of chromosome abnormality in spontaneous miscarriage using an MLPA subtelomere assay with an ancillary FISH test for polyploidy. Am J Med Genet A 2006;140: 2786-2793.