Non-invasive Prenatal Deletion Test

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1 Non-invasive Prenatal Deletion Test offered by Baylor Miraca Genetics Laboratories Performed by and Powered by illumina

2 Expanded Non-invasive Prenatal Test Expanded NIPT now includes the addition of microdeletion syndromes and additional trisomies. Baylor Miraca Genetics Laboratories has expanded their existing NIPT offering to include the detection of microdeletions DiGeorge, 1p36, Prader-Willi/Angelman, Cri-du-chat, and Wolf- Hirschhorn. Also, there is the option for detection of trisomies for chromosomes 9 and 16. Introduction Baylor Miraca Genetics Laboratories are committed to improving non-invasive prenatal testing to the point that it is as informative as invasive testing, but the field is not yet there. All pregnancies have a risk for being affected with a chromosome disorder, whether a microdeletion or a trisomy. Collectively, microdeletion syndromes are common, affecting approximately 1 in 1,000 pregnancies, and have clinical features that can include impaired growth, intellectual disability, and birth defects. Trisomy 9 or 16 often results in a first-trimester miscarriage. These microdeletion syndromes and trisomies usually occur unexpectedly without any previous occurrences in the family history. Routine prenatal serum screens cannot assess microdeletion syndromes. Additionally, microdeletion syndromes may not have abnormal ultrasound findings. Early information can

3 greatly aid patients and physicians in pregnancy and newborn care. Expanded non-invasive prenatal testing (NIPT) powered by illumina and offered through Baylor Miraca Genetics Laboratories provides patients and physicians with additional options based on clinical context. If a patient wants maximal detection of chromosomal abnormalities, invasive testing using chorionic villous sampling or amniocentesis followed by chromosomal microarray analysis is the best option to achieve this detection. If a patient does not wish to undergo invasive testing, the new Expanded Non-invasive Prenatal Test (NIPT) offers screening for some deletions without any added cost or risk. Valuable Information Screening for more commonly observed and clinically relevant microdeletion syndromes, plus trisomies 9 and 16. Accurate Answers An optimized algorithm provides superior data accuracy and higher detection rates. Accurate Validation and Low False Positive Rates The genomic alterations associated with microdeletion syndromes are complex. Expanded NIPT offers an algorithm optimized for detecting these complex changes. Analytical validation was performed with several thousand samples to determine performance metrics. In addition, the test has been validated using the largest number of clinical samples, providing highly accurate test sensitivity and specificity. The false positive rate is expected to be 0.02% to 1.21% for the combined deletion syndromes listed above. False negative rates are expected to be low. Responsibility First In order to promote the best care after this screening, Baylor Miraca Genetics Laboratories is offering verification testing including chromosomal microarray analysis on an invasive sample obtained by amniocentesis or chorionic villus sampling at no cost for any patient with an expanded NIPT result suggesting increased risk of a deletion syndrome.

4 Individually, microdeletion syndromes are rare, with a low prevalence in the general population. False positive NIPT results may lead to unnecessary invasive testing. To this end, Baylor Miraca Genetics Laboratories understands that not everyone is an appropriate candidate for additional microdeletion testing as part of their pregnancy care and provides this testing as an elective option. This screening test should be used in the context of the patient s history, including information about family history and pregnancy information such as an abnormal ultrasound. If the additional test for microdeletions is requested within 60 days of the original test, there s no need for another blood draw. Analysis can be performed using the original blood sample provided. Responsible Testing Elective test available based on clinician s discretion; add the microdeletion test up to 60 days post the original test. Confident Results Expanded NIPT uses proven illumina whole-genome massively parallel sequencing technology. This superior approach yields the lowest test failure rate (data on file) in the industry and confident results. Illumina technology is also the only next-generation sequencing (NGS) technology to have a peer- reviewed publication on the use of NGS to detect subchromosome microdeletions 1. The microdeletion panel covers five of the more commonly seen and clinically relevant microdeletion regions.

5 Summary Expanded NIPT options for microdeletion syndromes and trisomies 9 and 16 are now available as elective options through Baylor Miraca Genetics Laboratories. It may provide useful information for cases with abnormal ultrasound findings or specific family histories. Superior data accuracy and higher detection rates due to comprehensive illumina sequencing technology, combined with responsible clinical validation ensures that physicians and their patients receive results in which they can be confident. Reference 1. Srinivasan A, Bianchi DW, Huang H, Sehnert AJ, Rava RP (2013) Noninvasive detection of fetal subchromosome abnormalities via deep sequencing of maternal plasma. Am J Hum Genet. 92(2):

6 Limitations of the Test This test is designed to detect subchromosomal deletions and is validated for common deletions in chromosomal regions 15q11-q13, 5p15.2, 22q11.2, 1p36, and 4p16.3. The test is validated for singleton pregnancies with gestational age of at least 10 weeks as estimated by last menstrual period. These results do not eliminate the possibility that this pregnancy may be associated with other chromosomal or subchromosomal abnormalities, birth defects, and other conditions. This test is not intended to identify pregnancies at risk for open neural tube defects. A negative test result does not eliminate the possibility of Angelman syndrome, Prader-Willi syndrome, 5p-/Cri-du-Chat syndrome, 22q11.2 deletion syndrome, Williams syndrome, 1p36 deletion syndrome, or 4p-/Wolf-Hirschhorn syndrome. In addition, conditions caused by other molecular mechanisms cannot be detected with this assay. There is a small possibility that the test results might not reflect the chromosome status of the fetus, but may reflect subchromosomal changes of the placenta (confined placental mosaicism), or of the mother. Illumina and the Powered by Illumina logo are trademarks of Illumina, Inc. in the U.S. and other countries 2450 Holcombe Blvd. Houston, Texas GENE (4363) or March 2015

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