Search Results - "Mennuti, Michael T"

Is it time to sound an alarm about false-positive cell-free DNA testing for fetal aneuploidy? by Mennuti, Michael T., MD, Cherry, Athena M., PhD, Morrissette, Jennifer J.D., PhD, Dugoff, Lorraine, MD

“…Testing cell-free DNA (cfDNA) in maternal blood samples has been shown to have very high sensitivity for the detection of fetal aneuploidy with very low…”
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CCBE1 mutation in two siblings, one manifesting lymphedema-cholestasis syndrome, and the other, fetal hydrops by Shah, Sohela, Conlin, Laura K, Gomez, Luis, Aagenaes, Øystein, Eiklid, Kristin, Knisely, A S, Mennuti, Michael T, Matthews, Randolph P, Spinner, Nancy B, Bull, Laura N

“…Lymphedema-cholestasis syndrome (LCS; Aagenaes syndrome) is a rare autosomal recessive disorder, characterized by 1) neonatal intrahepatic cholestasis, often…”
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Beare-Stevenson syndrome: Two new patients, including a novel finding of tracheal cartilaginous sleeve by Wenger, Tara L., Bhoj, Elizabeth J., Wetmore, Ralph F., Mennuti, Michael T., Bartlett, Scott P., Mollen, Thomas J., McDonald-McGinn, Donna M., Zackai, Elaine H.

“…Beare–Stevenson syndrome (BSS) is a rare FGFR2‐associated craniosynostosis syndrome with a higher rate of sudden unexplained death than related conditions such…”
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Cell-free DNA screening and sex chromosome aneuploidies by Mennuti, Michael T., Chandrasekaran, Suchitra, Khalek, Nahla, Dugoff, Lorraine

“…Cell‐free DNA (cfDNA) testing is increasingly being used to screen pregnant women for fetal aneuploidies. This technology may also identify fetal sex and can…”
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The benefits and limitations of cell‐free DNA screening for 22q11.2 deletion syndrome by Dugoff, Lorraine, Mennuti, Michael T., McDonald‐McGinn, Donna M.

“…Cell‐free DNA testing is increasingly being used to screen pregnant women for fetal aneuploidy. This technology may also identify microdeletion syndromes,…”
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Cell-free fetal DNA testing: who is driving implementation? by Mozersky, Jessica, Mennuti, Michael T.

“…The introduction of noninvasive cell-free fetal DNA (cffDNA) testing to detect fetal Down syndrome, and several other aneuploidy syndromes, signals a major…”
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The Recurrent t(11;22)(q23;q11.2) Can Occur as a Post-Zygotic Event by Correll-Tash, Sarah, Conlin, Laura, Mininger, Beth A, Lilley, Brenna, Mennuti, Michael T, Emanuel, Beverly S

“…The AT-rich repeat on chromosome 22q11.2 is known to be involved in the recurrent constitutional t(11;22)(q23;q11.2). Segregation of this translocation has…”
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Risks of Second-Trimester Amniocentesis: Why All the Fuss 30 Years Later? by Mennuti, Michael T.

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Genetic Screening in Reproductive Health Care by MENNUTI, MICHAEL T

“…Genetic screening is used to identify individuals who have genetic variations or mutations that are associated with a particular disorder. Genetic screening…”
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Incorporating first-trimester Down syndrome studies into prenatal screening: executive summary of the National Institute of Child Health and Human Development workshop by Reddy, Uma M, Mennuti, Michael T

“…The National Institute of Child Health and Human Development (NICHD), the Society for Maternal-Fetal Medicine, and the American College of Obstetricians and…”
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Is It Time to Sound an Alarm About False-Positive Cell-Free DNA Testing for Fetal Aneuploidy? by Mennuti, Michael T, Cherry, Athena M, Morrissette, Jennifer J D, Dugoff, Lorrine

“…ABSTRACTCell-free DNA (cfDNA) testing on maternal blood samples is now used for fetal aneuploidy screening. This testing examines cfDNA fragments circulating…”
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Practice patterns of obstetrician-gynecologists regarding preconception and prenatal screening for cystic fibrosis by Morgan, Maria A., Driscoll, Deborah A., Mennuti, Michael T., Schulkin, Jay

“…Objective: To assess practices of obstetrician-gynecologists regarding carrier screening for cystic fibrosis (CF). Methods: A questionnaire investigating…”
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Embracing change in obstetrics and gynecology by Mennuti, Michael T

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Screening for Down's Syndrome — Too Many Choices? by Mennuti, Michael T, Driscoll, Deborah A

“…An increased risk of fetal Down's syndrome (trisomy 21) is the most common reason for offering prenatal genetic diagnosis. The chance of giving birth to a…”
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Impact of self-reported familiarity with guidelines for cystic fibrosis carrier screening by MORGAN, Maria A, DRISCOLL, Deborah A, ZINBERG, Stanley, SCHULKIN, Jay, MENNUTI, Michael T

“…To assess the impact of self-reported familiarity with published guidelines on knowledge, implementation, and opinions of obstetrician-gynecologists regarding…”
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Prompt diagnosis of ectopic pregnancy in an emergency department setting by Barnhart, K, Mennuti, M T, Benjamin, I, Jacobson, S, Goodman, D, Coutifaris, C

“…To evaluate quantitative hCG measurements and transvaginal ultrasound in the diagnosis of ectopic pregnancy in patients presenting to the emergency department…”
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First-Trimester Screening for Down's Syndrome by Wald, Nicholas J

“…To the Editor: Wapner and colleagues (Oct. 9 issue) 1 describe implementation of the first-trimester combined test for trisomies 21 and 18 in 8514 women with a…”
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Cystic fibrosis carrier screening: Issues in implementation by Watson, Michael S., Desnick, Robert J., Grody, Wayne W., Mennuti, Michael T., Popovich, Bradley W., Richards, C Sue

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SCREENING FOR CYSTIC FIBROSIS CARRIER STATE by Mennuti, Michael T, Thomson, Elizabeth, Press, Nancy

“…Carrier screening for cystic fibrosis as part of reproductive health care, including prenatal care, is not the standard of practice at this time. However, a…”
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Cytogenetics : Part 1, General Concepts and Aneuploid Conditions by Mennuti, Michael T., MD

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