Search Results - "Kloza, Edward M."

The impact of maternal plasma DNA fetal fraction on next generation sequencing tests for common fetal aneuploidies by Canick, Jacob A., Palomaki, Glenn E., Kloza, Edward M., Lambert-Messerlian, Geralyn M., Haddow, James E.

“…ABSTRACT Maternal plasma contains circulating cell‐free DNA fragments originating from both the mother and the placenta. The proportion derived from the…”
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DNA sequencing of maternal plasma to detect Down syndrome: An international clinical validation study by Palomaki, Glenn E, Kloza, Edward M, Lambert-Messerlian, Geralyn M, Haddow, James E, Neveux, Louis M, Ehrich, Mathias, van den Boom, Dirk, Bombard, Allan T, Deciu, Cosmin, Grody, Wayne W, Nelson, Stanley F, Canick, Jacob A

“…Purpose: Prenatal screening for Down syndrome has improved, but the number of resulting invasive diagnostic procedures remains problematic. Measurement of…”
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DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study by Palomaki, Glenn E., Deciu, Cosmin, Kloza, Edward M., Lambert-Messerlian, Geralyn M., Haddow, James E., Neveux, Louis M., Ehrich, Mathias, van den Boom, Dirk, Bombard, Allan T., Grody, Wayne W., Nelson, Stanley F., Canick, Jacob A.

“…Purpose: To determine whether maternal plasma cell–free DNA sequencing can effectively identify trisomy 18 and 13. Methods: Sixty-two pregnancies with trisomy…”
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DNA sequencing of maternal plasma to identify Down syndrome and other trisomies in multiple gestations by Canick, Jacob A., Kloza, Edward M., Lambert-Messerlian, Geralyn M., Haddow, James E., Ehrich, Mathias, van den Boom, Dirk, Bombard, Allan T., Deciu, Cosmin, Palomaki, Glenn E.

“…ABSTRACT Objective Studies on prenatal testing for Down syndrome (trisomy 21), trisomy 18, and trisomy 13 by massively parallel shotgun sequencing (MPSS) of…”
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Prenatal cell-free DNA screening test failures: a systematic review of failure rates, risks of Down syndrome, and impact of repeat testing by Palomaki, Glenn E, Kloza, Edward M

“…Purpose We systematically reviewed the published literature on test failure rates for the sequencing of cell-free DNA (cfDNA) in maternal plasma to identify…”
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Assessment of a Simplified Cell-Free DNA Method for Prenatal Down Syndrome Screening by Palomaki, Glenn E, Eklund, Elizabeth E, Kloza, Edward M, Lambert-Messerlian, Geralyn M

“…Prenatal screening for common trisomies via cell-free (cfDNA) is usually implemented by technologies utilizing massively parallel sequencing, stringent…”
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Referral networks for pediatric patients with genetic conditions: The perspective of occupational therapists by Henly, Megan, Phillips, Kimberly G, Smith, Sarah L, Kloza, Edward M, Brucker, Debra L

“…Families of children with developmental delays but no diagnosed genetic condition may benefit from connection to genetic systems of care. This work examines…”
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The clinical utility of DNA-based screening for fetal aneuploidy by primary obstetrical care providers in the general pregnancy population by Palomaki, Glenn E., Kloza, Edward M., O’Brien, Barbara M., Eklund, Elizabeth E., Lambert-Messerlian, Geralyn M.

“…Objective: To assess the clinical utility of cell-free DNA (cfDNA)-based screening for aneuploidies offered through primary obstetrical care providers to a…”
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Feasibility of using plasma rather than serum in first and second trimester multiple marker Down's syndrome screening by Lambert-Messerlian, Geralyn M, Palomaki, Glenn E, Eklund, Elizabeth E, Kloza, Edward M, Neveux, Louis M, Phipps, Maureen G, Canick, Jacob A

“…To compare maternal plasma with serum for measuring markers currently used in first and second trimester screening for Down's syndrome. A laboratory-based…”
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Mid-Gestational Maternal Free Thyroxine Concentration and Offspring Neurocognitive Development at Age Two Years by Craig, Wendy Y, Allan, Walter C, Kloza, Edward M, Pulkkinen, Andrea J, Waisbren, Susan, Spratt, Daniel I, Palomaki, Glenn E, Neveux, Louis M, Haddow, James E

“…Context: Lower neurocognitive development scores at age 2 yr have been reported in association with euthyroid hypothyroxinemia during early pregnancy…”
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Evaluation of Patient Education Materials: The Example of Circulating cell free DNA Testing for Aneuploidy by Kloza, Edward M., Haddow, Paula K., Halliday, Jacquelyn V., O’Brien, Barbara M., Lambert-Messerlian, Geralyn M., Palomaki, Glenn E.

“…Informed consent is the process by which the treating health care provider discloses appropriate information to a competent patient so that the patient may…”
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Maternal plasma DNA testing for aneuploidy in pregnancies achieved by assisted reproductive technologies by Lambert-Messerlian, Geralyn, Kloza, Edward M., Williams, John, Loucky, Jaroslav, O’Brien, Barbara, Wilkins-Haug, Louise, Mahoney, Maurice J., De Biasio, Pierangela, Borrell, Antoni, Ehrich, Mathias, van den Boom, Dirk, Bombard, Allan T., Deciu, Cosmin, Palomaki, Glenn E.

“…Purpose: We sought to compare measurements of circulating cell-free DNA as well as Down syndrome test results in women with naturally conceived pregnancies…”
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Maternal plasma DNA testing: experience of women counseled at a prenatal diagnosis center by O'Brien, Barbara M, Kloza, Edward M, Halliday, Jacquelyn V, Lambert-Messerlian, Geralyn M, Palomaki, Glenn E

“…To evaluate the early introduction of circulating cell-free (ccf) DNA testing in a prenatal diagnosis center serving a statewide population. A retrospective…”
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Maternal urine and serum steroid measurements to identify steroid sulfatase deficiency (STSD) in second trimester pregnancies by Marcos, Josep, Craig, Wendy Y., Palomaki, Glenn E., Kloza, Edward M., Haddow, James E., Roberson, Marie, Bradley, Linda A., Shackleton, Cedric H. L.

“…Objective To document the performance of second trimester maternal urine and serum steroid measurements for detecting fetal steroid sulfatase deficiency…”
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Screening for thyroid disorders during pregnancy: Results of a survey in Maine by Haddow, James E., McClain, Monica R., Palomaki, Glenn E., Kloza, Edward M., Williams, Josephine

“…Guidelines regarding prenatal screening for thyroid deficiency are conflicting, and current practice in primary care settings is unknown. Our survey sought to…”
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Identifying Smith-Lemli-Opitz syndrome in conjunction with prenatal screening for Down syndrome by Craig, Wendy Y., Haddow, James E., Palomaki, Glenn E., Kelley, Richard I., Kratz, Lisa E., Shackleton, Cedric H. L., Marcos, Josep, Stephen Tint, G., MacRae, Andrew R, Nowaczyk, Malgorzata J., Kloza, Edward M., Irons, Mira B., Roberson, Marie

“…Background Smith–Lemli–Opitz syndrome (SLOS) is a rare hereditary disorder of cholesterol metabolism. We examine the feasibility of identifying SLOS as a part…”
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DNA Sequencing of Maternal Plasma to Detect Down Syndrome: An International Clinical Validation Study by Palomaki, Glenn E, Kloza, Edward M, Lambert-Messerlian, Geralyn M, Haddow, James E, Neveux, Louis M, Ehrich, Mathias, van den Boom, Dirk, Bombard, Allan T, Deciu, Cosmin, Grody, Wayne W, Nelson, Stanley F, Canick, Jacob A

“…The use of current screening for Down syndrome is relatively effective and can detect up to 90% of cases with a false-positive rate of about 5%. However,…”
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Integrated serum screening for Down syndrome in primary obstetric practice by Knight, George J., Palomaki, Glenn E., Neveux, Louis M., Smith, Dwight E., Kloza, Edward M., Pulkkinen, Andrea J., Williams, Josephine, Haddow, James E.

“…Objectives Integrated serum screening for Down syndrome is potentially more effective than current second‐trimester screening. We report results of an…”
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Patient and Health Professional Acceptance of Integrated Serum Screening for Down Syndrome by Palomaki, Glenn E., Kloza, Edward M., Haddow, James E., Williams, Josephine, Knight, George J.

“…Integrated testing for Down syndrome combines first trimester maternal serum and nuchal translucency (NT) measurements with second trimester maternal serum…”
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A genetic history questionnaire-based system in primary prenatal care to screen for selected fetal disorders by Bradley, Linda A, Kloza, Edward M, Haddow, Paula K, Beauregard, Laurent J, Johnson, Judith L, Haddow, James E

“…DNA (and other) diagnostic tests are now available for a number of serious, but uncommon, fetal disorders. We designed and evaluated a screening system for…”
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