Tags

Type your tag names separated by a space and hit enter

DNA sequencing of maternal plasma to identify Down syndrome and other trisomies in multiple gestations.
Prenat Diagn 2012; 32(8):730-4PD

Abstract

OBJECTIVE

Studies on prenatal testing for Down syndrome (trisomy 21), trisomy 18, and trisomy 13 by massively parallel shotgun sequencing (MPSS) of circulating cell free DNA have been, for the most part, limited to singleton pregnancies. If MPSS testing is offered clinically, it is important to know if these trisomies will also be identified in multiple pregnancies.

METHOD

Among a cohort of 4664 high-risk pregnancies, maternal plasma samples were tested from 25 twin pregnancies (17 euploid, five discordant and two concordant for Down syndrome; one discordant for trisomy 13) and two euploid triplet pregnancies [Correction made here after initial online publication.]. Results were corrected for GC content bias. For each target chromosome (21, 18, and 13), z-scores of 3 or higher were considered consistent with trisomy.

RESULTS

Seven twin pregnancies with Down syndrome, one with trisomy 13, and all 17 twin euploid pregnancies were correctly classified [detection rate 100%, 95% confidence interval (CI) 59%-100%, false positive rate 0%, 95% CI 0%-19.5%], as were the two triplet euploid pregnancies.

CONCLUSION

Although study size is limited, the underlying biology combined with the present data provide evidence that MPSS testing can be reliably used as a secondary screening test for Down syndrome in women with high-risk twin gestations.

Authors+Show Affiliations

Division of Medical Screening and Special Testing, Department of Pathology and Laboratory Medicine, Women and Infants Hospital, Alpert Medical School of Brown University, Providence, RI, USA. jcanick@wihri.orgNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Multicenter Study
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

22585317

Citation

Canick, Jacob A., et al. "DNA Sequencing of Maternal Plasma to Identify Down Syndrome and Other Trisomies in Multiple Gestations." Prenatal Diagnosis, vol. 32, no. 8, 2012, pp. 730-4.
Canick JA, Kloza EM, Lambert-Messerlian GM, et al. DNA sequencing of maternal plasma to identify Down syndrome and other trisomies in multiple gestations. Prenat Diagn. 2012;32(8):730-4.
Canick, J. A., Kloza, E. M., Lambert-Messerlian, G. M., Haddow, J. E., Ehrich, M., van den Boom, D., ... Palomaki, G. E. (2012). DNA sequencing of maternal plasma to identify Down syndrome and other trisomies in multiple gestations. Prenatal Diagnosis, 32(8), pp. 730-4. doi:10.1002/pd.3892.
Canick JA, et al. DNA Sequencing of Maternal Plasma to Identify Down Syndrome and Other Trisomies in Multiple Gestations. Prenat Diagn. 2012;32(8):730-4. PubMed PMID: 22585317.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - DNA sequencing of maternal plasma to identify Down syndrome and other trisomies in multiple gestations. AU - Canick,Jacob A, AU - Kloza,Edward M, AU - Lambert-Messerlian,Geralyn M, AU - Haddow,James E, AU - Ehrich,Mathias, AU - van den Boom,Dirk, AU - Bombard,Allan T, AU - Deciu,Cosmin, AU - Palomaki,Glenn E, Y1 - 2012/05/14/ PY - 2012/5/16/entrez PY - 2012/5/16/pubmed PY - 2012/12/18/medline SP - 730 EP - 4 JF - Prenatal diagnosis JO - Prenat. Diagn. VL - 32 IS - 8 N2 - OBJECTIVE: Studies on prenatal testing for Down syndrome (trisomy 21), trisomy 18, and trisomy 13 by massively parallel shotgun sequencing (MPSS) of circulating cell free DNA have been, for the most part, limited to singleton pregnancies. If MPSS testing is offered clinically, it is important to know if these trisomies will also be identified in multiple pregnancies. METHOD: Among a cohort of 4664 high-risk pregnancies, maternal plasma samples were tested from 25 twin pregnancies (17 euploid, five discordant and two concordant for Down syndrome; one discordant for trisomy 13) and two euploid triplet pregnancies [Correction made here after initial online publication.]. Results were corrected for GC content bias. For each target chromosome (21, 18, and 13), z-scores of 3 or higher were considered consistent with trisomy. RESULTS: Seven twin pregnancies with Down syndrome, one with trisomy 13, and all 17 twin euploid pregnancies were correctly classified [detection rate 100%, 95% confidence interval (CI) 59%-100%, false positive rate 0%, 95% CI 0%-19.5%], as were the two triplet euploid pregnancies. CONCLUSION: Although study size is limited, the underlying biology combined with the present data provide evidence that MPSS testing can be reliably used as a secondary screening test for Down syndrome in women with high-risk twin gestations. SN - 1097-0223 UR - https://www.unboundmedicine.com/medline/citation/22585317/DNA_sequencing_of_maternal_plasma_to_identify_Down_syndrome_and_other_trisomies_in_multiple_gestations_ L2 - https://doi.org/10.1002/pd.3892 DB - PRIME DP - Unbound Medicine ER -