Reference

MaterniT™ GENOME

1. Di Greegorio E, et al. Large cryptic genomic rearrangement with apparently normal karyotypes

2. Zhao C, et al. Detection of fetal subchromosomal abnormalities by sequencing circulating cell-free DNA from maternal plasma. Clin chem.2015 Apr; 61 (4):608-616.

3. Palomaki GE, et al. Genet Med 2011;2013(11)913-920

4. Helgeson J et al.Prenat.Diagn.2015 Jun 18, doi;10.1002/pd.4640 (Epub ahead of print)

5. Tynan J.et al. Karyotype-level non-invasive prenatal testing by sequencing of circulating cell-free DNA from maternal plasma. Poster presenteted at International Society of prenatal diagnosis annual meeting July 2015

6. Palomaki GE, et al Genet Med 2012;14 (3): 296-305

7. Mazloom AR, et al. Prenat.diagn2013;33(6):591-597



MATERNIT® 21 PLUS

1. American College of Obstetricians and Gynecologists (ACOG) Committee on Practice Bulletins. ACOG Practice Bulletin No. 77, January 2007. Screening for fetal chromosomal abnormalities. Obstet Gynecol. 109(1):217-228.

2. American College of Obstetricians and Gynecologists (ACOG) Committee on Practice Bulletins. ACOG Practice Bulletin No. 88, December 2007. Invasive prenatal testing for aneuploidy. Obstet Gynecol. 110(6):1459-1467.

3. Committee opinion no. 545: Noninvasive prenatal testing for fetal aneuploidy. Obstet Gynecol. 2012;120(6):1532-1534.

4. Skotko BG, Kishnani PS, Capone GT for the Down Syndrome Diagnosis Study Group. Prenatal diagnosis of Down syndrome: How best to deliver the news. Am J Med Genet A. 2009;149A(11):2361 2367.

5. Parker SE, Mai CT, Canfield MA, Rickard R, et al. Updated national birth prevalence estimates for selected birth defects in the United States, 2004-2006. Birth Defects Res A.2010; 88:1008-1016.

6. Sheets KB, Crissman BG, Feist CD, Sell SL, et al. Practice guidelines for communicating a prenatal or postnatal diagnosis of down syndrome: Recommendations of the National Society of Genetic Counselors. J Genet Couns. 2011;20(5):432-441.

7. National Institutes of Health. 2009. Genetics Home Reference. Reviewed January 2009 from: http://ghr.nlm.nih.gov.

8. Nielsen J, Wohlert M. Chromosome abnormalities found among 34,910 newborn children: results from a 13-year incidence study in Arhus, Denmark, Hum. Genet. 1991;87(1):81-83.

9. Palomaki GE, et al. DNA sequencing of maternal plasma to detect Down syndrome: An international clinical validation study. Genet Med. 2011 Nov;13(11):913-920.

10. Palomaki GE, et al. DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13, as well as Down syndrome: An international collaborative study. Genet Med. 2012 Mar;14(3):296-305.

11. Jensen TJ, et al. High-throughput massively parallel sequencing for fetal aneuploidy detection from maternal plasma. PLoS One. 2013;8(3):e57381. doi: 10.1371/journal. pone.0057381. Epub 2013 Mar 6.

12. Ehrich M, et al. Noninvasive detection of fetal trisomy 21 by sequencing of DNA in maternal blood: a study in a clinical setting. Am J Obstet Gynecol. 2011 Mar;204(3):205.

13. Bianchi DW, et al. Genome wide fetal aneuploidy detection by sequencing of maternal plasma dna: Diagnostic accuracy in a prospective, blinded, multicenter study. Obstet Gynecol. 2012 Feb 22.

14. Norton ME, et al. Noninvasive chromosomal evaluation (NICE) study: results of a multicenter, prospective, cohort study for detection of fetal trisomy 21 and trisomy 18. Am J Obstet Gynecol. 2012 Aug;207(2):137.e1-8. doi: 10.1016/j. ajog.2012.05.021.

15. Mazloom AR, et al. Noninvasive prenatal detection of sex chromosomal aneuploidies by sequencing circulating cell-free DNA from maternal plasma. Prenat Diagn. 2013.16

16. Ashoor G, et al. Trisomy 13 detection in the first trimester of pregnancy using a chromosome-selective cell-free DNA analysis method. Ultrasound Obstet Gynecol. 2013;41(1):21-5.

17. Zimmermann B, et al. Noninvasive prenatal aneuploidy testing of chromosomes 13, 18, 21, X and Y, using targeted sequencing of polymorphic loci. Prenat Diagn. 2012 Dec;32(13):1233-4121.

18. Canick JA, et al. DNA sequencing of maternal plasma to identify Down syndrome and other trisomies in multiple gestations. Prenat Diagn. 2012 Aug;(32(8):730-734.

Mazloom AR, et al. Accuracy of16, noninvasive prenatal sex determination using massively parallel sequencing in samples from a large clinical validation study. Poster presented at: 62nd Annual Meeting of the American Society of Human Genetics; 2012 Nov 6-10; San Francisco, CA.



SENSIGENE® FETAL RHD GENOTYPING

1. Bombard AT, Akolekar R, Farkas DH, VanAgtmael AL, et al. 2011. Fetal RHD genotype detection from circulating cell-free fetal DNA in maternal plasma in non-sensitized RhD negative women. Prenat Diagn. 31(8):802-808. doi: 10.1002/pd.2770.

2. Moise KJ, Boring NH, O’Shaunessy R, et al. Circulating cell-free fetal DNA for the detection of RHD status and sex using reflex fetal identifiers. Prenat Diagn. 2012 Dec 6:1-6. Poster presented at the 32nd Annual Meeting of the Society for Maternal-Fetal Medicine; February 2012; Dallas, Texas.

3. Lo YMD, Corbetta, N, Chamberlain PF, Rai V, et al. 1997. Presence of fetal DNA in maternal plasma and serum. Lancet. 350:485-487.

4. Finning KM, Martin PG, Soothill PW, Avent ND. 2002. Prediction of fetal D status from maternal plasma: introduction of a new noninvasive fetal RHD genotyping service.Transfusion. 42(8):1079-1085.

5. Bianchi DW. Circulating fetal DNA: its origin and diagnostic potential-a review. Placenta. 2004 Apr;25 Suppl A:S93-S101.



HEREDIT® CARRIER SCREENING TESTS

1. Update on carrier screening for cystic fibrosis. ACOG Committee Opinion No. 486. American College of Obstetricians and Gynecologists. Obstet Gynecol. 2011;117(4):1028-1031.

2. Moskowitz SM, Chmiel JF, Sternen DL, Cheng E, Cutting GR. CFTR-related disorders. In: Pagon RA, Bird TC, Dolan CR, Stephens K, editors. GeneReviews. Seattle (WA): University of Washington; 2008. Available at http://www.ncbi.nlm.nih.gov/books/NBK1250. Retrieved December 15, 2010.

3. Dicke JM, Crane JP. Sonographically detected hyperechoic fetal bowel significance and implications for pregnancy management. Obstet Gynecol. 1992;80(5):778-782.

4. Heim RA, et al. Improved detection of cystic fibrosis mutations in the heterogeneous U.S. population using the expanded, pan-ethnic mutation panel. Genet Med. 2001;3(3):168-175.

5. Sugerman EA, et al. CFTR mutation distribution among U.S. Hispanic and African American individuals: Evaluation in cystic fibrosis patient and carrier screening populations.Genet Med. 2004;6(5):392-399.

6. Watson MS, et al. Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel. Genet Med. 2004;6(5):387-391.

7. ACOG Committee Opinion No. 442. Preconception and Prenatal Carrier screening panel for Genetic Diseases in Individuals of Eastern European Jewish Descent. American College of Obstetricians and Gynecologists. Obstet Gynecol. 2009;114:950-953

8. Jewish Virtual Library, A Division of the American-Israeli Cooperative Enterprise, Victor Center for Jewish Genetic Diseases, Philadelphia, PA.

9. Mount Sinai Genetic Testing Laboratory, Department of Genetics and Genomic Sciences at Mount Sinai School of Medicine, One Gustave L. Levy Place, New York, NY.

10. Gross, et al. Carrier screening in individuals of Ashkenazi Jewish descent. ACMG Practice Guideline. American College of Medical Genetics. Genet Med. 2008;10(1):54-56.

11. Sherman, S., Pletcher, B.A. & Driscoll, D.A. American College of Medical Genetics Practice Guideline: Fragile X syndrome: diagnostic and carrier testing. Genet Med.2005;7(8):584-587.

12. Birth Defects, Fragile X syndrome. March of Dimes. http://www.marchofdimes.com/baby/birthdefects_fragilex.html. Accessed August 17, 2012.

13. ACOG Committee Opinion No. 338. Screening for fragile X syndrome. American College of Obstetricians and Gynecologists. Obstet Gynecol. 2006;107:1483-1485.

14. Prior TW. ACMG Practice Guidelines. Carriers screening for Muscular Atrophy. American College of Medical Genetics. Genet Med. 2008;10(11):840-84.

15. ACOG Committee Opinion No. 432. Spinal Muscular Atrophy. American College of Obstetricians and Gynecologists. Obstet Gynecol. 2009; 113:1194-1196.

16. Swoboda KJ, et al. Natural history of denervation in SMA: relation to age, SMN2 copy number, and function. Ann Neurol. 2005; 57:704-712.