The role of molecular microsatellite identity testing to detect sampling errors in prenatal diagnosis

Prenatal Diagnosis

Volumn 30, Issue 8, 2010, Pages 746-752

  Winsor, E J T ^a,b   Akoury, H ^b,c   Chitayat, D ^a,b   Steele, L ^d   Stockley, T L ^b,d  

^a MOUNT SINAI HOSPITAL   (Canada)

^b UNIVERSITY OF TORONTO   (Canada)

^c SUNNYBROOK RESEARCH INSTITUTE   (Canada)

^d HOSPITAL FOR SICK CHILDREN   (Canada)

Author keywords

Amniocentesis; CVS; Maternal cell contamination; Microsatellite markers; Zygosity

Indexed keywords

MICROSATELLITE DNA;

AMNIOCENTESIS; AMNION FLUID; ARTICLE; CHORION VILLUS SAMPLING; FEMALE; HUMAN; HUMAN EXPERIMENT; MALE; MICROSATELLITE MARKER; MULTIPLE PREGNANCY; NORMAL HUMAN; PRACTICE GUIDELINE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; RETROSPECTIVE STUDY; SAMPLING ERROR; ZYGOSITY;

AMNIOCENTESIS; CHORIONIC VILLI SAMPLING; DNA; FEMALE; HUMANS; MICROSATELLITE REPEATS; PATHOLOGY, MOLECULAR; PREGNANCY; PREGNANCY, MULTIPLE; RETROSPECTIVE STUDIES; SELECTION BIAS;

EID: 77955098161     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.2530     Document Type: Article

References (21)

1. American College of Medical Genetics Guidelines. 2008. http://www.acmg.net/AM/Template.cfm?Section=laboratoryStandards and Guidelines&Template=/CM/HTMLDisplay.cfm&ContentID=4062.
2. Antsaklis A, Souka AP, Daskalakis G, et al. 2002. Second-trimester amniocentesis vs. chorionic villus sampling for prenatal diagnosis in multiple gestations. Ultrasound Obstet Gynecol 20: 476-481.
3. Brambati B, Tului L, Camurri L, et al. 2004. First-trimester fetal reduction to a singleton infant or twins: outcome in relation to the final number and karyotyping before reduction by transabdominal chorionic villus sampling. Am J Obstet Gynecol 191: 2035-2040. (Pubitemid 39601510)
4. Brambati B, Tului L, Guercilena S, et al. 2001. Outcome of firsttrimester chorionic villus sampling for genetic investigation in multiple pregnancy. Ultrasound Obstet Gynecol 17: 209-216.
5. Brambati B, Tului L, Lanzani A, et al. 1991. First-trimester genetic diagnosis in multiple pregnancy: principles and potential pitfalls. Prenat Diagn 11: 767-774.
6. Canadian College of Medical Geneticists, Molecular Genetics Guidelines. 2006. http://www.ccmg-ccgm.org/pdf/policy/2006/CCMG%20Molecular%20Genetics%20 Guidelines%20-%20Final%202006.pdf.
7. Cirigliano V, Canadas P, Plaja A, et al. 2003. Rapid prenatal diagnosis of aneuploidies and zygosity in multiple pregnancies by amniocentesis with single insertion of the needle and quantitative fluorescent PCR. Prenat Diagn 23: 629-633.
8. De Catte L, Camus M, Bonduelle M, et al. 1998. Prenatal diagnosis by chorionic villus sampling in multiple pregnancies prior to fetal reduction. Am J Perinatol 15(5): 339-343. (Pubitemid 28257214)
9. De Catte L, Liebaers I, Foulon W. 2000. Outcome of twin gestations after first trimester chorionic villus sampling. Obstet Gynecol 96: 714-720.
10. Delisle MF, Brosseuk L, Wilson RD. 2007. Amniocentesis for twin pregnancies: is alpha-fetoprotein useful in confirming that the two sacs were sampled? Fetal Diagn Ther 22: 221-225.
11. Eddleman KA, Stone JL, Lynch L, et al. 2000. Chorionic villus sampling before multifetal pregnancy reduction. Am J Obstet Gynecol 183: 1078-1081.
12. ECA (European Cytogenetics Association). 2007. Cytogenetics Guidelines and Quality Assurance. http://www.biologia.uniba.it/eca/NEWSLETTER/NS-17/ Guidelines.pdf.
13. Jenkins TM, Wapner RJ. 2000. The challenge of prenatal diagnosis in twin pregnancies. Curr Opin Obstet Gynecol 12: 87-92.
14. Ledbetter DH, Zachary JM, Simpson JL, et al. 1992. Cytogenetic results from the U.S. collaborative study on CVS. Prenat Diagn 12: 317-345.
15. Pergament E, Schulman JD, Copeland K, et al. 1992. The risk and efficacy of chorionic villus sampling in multiple gestations. Prenat Diagn 12: 377-384.
16. Schrijver I, Cherny SC, Zehnder JL. 2007. Testing for maternal cell contamination in prenatal samples. J Mol Diagn 9: 394-400.
17. Stojilkovic-Mikic T, Mann K, Docherty Z, Ogilvie CM. 2005. Maternal cell contamination of prenatal samples assessed by QFPCR genotyping. Prenat Diagn 25: 79-83.
18. UK Clinical Molecular Genetics Society. 2008. Practice Guidelines for the Testing for Maternal Cell Contamination (MCC) in Prenatal Samples for Molecular Studies. http://cmgs.org/BPGs/pdfs%20current%20bpgs/MCC 08.pdf.
19. van den Berg C, Braat PG, Van Opstal D, et al. 1999.. Amniocentesis or chorionic villus sampling in multiple gestations? Experience with 500 cases. Prenat Diagn 19: 234-244.
20. Welch RA, Salem-Elgharib S, Wiktor AE, et al. 2006. Operator experience and sample quality in genetic amniocentesis. Am J Obstet Gynecol 194: 189-191. (Pubitemid 43017795)
21. Winsor EJT, Tomkins DJ, Kalousek D, et al. 1999. Cytogenetic aspects of the Canadian Early and Mid-trimester amniotic fluid trial (CEMAT). Prenat Diagn 19: 620-627.