Prenatal diagnosis of myotonic dystrophy using fetal DNA obtained from maternal plasma

Clinical Chemistry

Volumn 46, Issue 2, 2000, Pages 301-302

  Amicucci, Paola ^a,b   Gennarelli, Massimo ^c   Novelli, Giuseppe ^a,b   Dallapiccola, Bruno ^a,b  

^a UNIVERSITY OF ROME TOR VERGATA   (Italy)

^b CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^c Ist di Ricovero/Cura Carattere Sci   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

ADULT; ARTICLE; CASE REPORT; FEMALE; GENETIC ANALYSIS; HUMAN; MATERNAL PLASMA; MYOTONIC DYSTROPHY; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS;

EID: 0033968645     PISSN: 00099147     EISSN: None     Source Type: Journal    
DOI: 10.1093/clinchem/46.2.301     Document Type: Article

References (6)

1. 1. Brook JD, McCurrach ME, Harley HG, Bucler AJ, Church D, Aburatani H, et al. Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member. Cell 1992;68:799-808.
2. 2. Cheng S, Barcelò JM, Korneluk RG. Characterization of large CTG repeats expansions in myotonic dystrophy alleles using PCR. Hum Mutat 1996;7: 304-10.
3. 3. Gennarelli M, Pavoni M, Amicucci P, Novelli G, Dallapiccola B. A single polymerase chain reaction-based protocol for detecting normal and expanded alleles in myotonic dystrophy. Diagn Mol Pathol 1998;7:135-7.
4. 4. Massari A, Novelli G, Colosimo A, Sangiuolo F, Palka G, Calabrese G, et al. Non-invasive early prenatal molecular diagnosis using retrieved transcervical trophoblast cells. Hum Genet 1996;97:150-5.
5. 5. Lo YMD, Tein MSC, Lau TK, Haines CJ, Leung TN, Poon PMK, et al. Quantitative analysis of fetal DNA in maternal plasma and serum: implication for noninvasive prenatal diagnosis. Am J Hum Genet 1998;62:768-75.
6. 6. Lo YMD, Lau TK, Leung TN, Chang AMZ, Hjelm NM, Elmes RS, et al. Increased fetal DNA concentration in the plasma of pregnant women carrying fetuses with trisomy 21. Clin Chem 1999;45:1747-51.