Showing 1 - 20 results of 38 for search '"amniocentesis"', query time: 0.05s Refine Results
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    A New Model for Providing Cell-Free DNA and Risk Assessment for Chromosome Abnormalities in a Public Hospital Setting by Robert Wallerstein, Andrea Jelks, Matthew J. Garabedian

    Published 2014-01-01
    “…Most selected cfDNA screening (69%) over integrated screening (0.6%), direct-to-invasive testing (14.1%), or no screening (16.6%). Amniocentesis rates decreased following implementation of cfDNA screening (19.0% versus 13.0%, P<0.05). …”
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    Results of Routine Antenatal Screening for Cytomegalovirus at a Tertiary Center by Duygu TUGRUL ERSAK, Izzet OZGURLUK, Ayse Gulcin BASTEMUR, Esra GULEN YILDIZ, Selcan SINACI, Ezgi TURGUT, Ozgur KARA, Atakan TANACAN, Dilek SAHIN

    Published 2023-09-01
    “…Pregnant women with positive IgM accompanying low avidity were referred to perinatology clinics for detailed ultrasonography and amniocentesis. Only 3 of the 44 pregnant women who underwent amniocentesis were confirmed to have positive CMV PCR testing. …”
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    Clonal Populations of Amniotic Cells by Dilution and Direct Plating: Evidence for Hidden Diversity by Patricia G. Wilson, Lorna Devkota, Tiffany Payne, Laddie Crisp, Allison Winter, Zhan Wang

    Published 2012-01-01
    “…More than 40 clonal populations were recovered from 4 amniocentesis samples and representative clones were characterized by flow cytometry, conventional assays for differentiation potential, immunofluorescence imaging, and transcript analysis. …”
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    Maternal Parvovirus B19 Infection Causing First-Trimester Increased Nuchal Translucency and Fetal Hydrops by Olivia Grubman, Farrah Naz Hussain, Zoe Nelson, Lois Brustman

    Published 2019-01-01
    “…The amniocentesis revealed elevated parvovirus B19 DNA, quantitative PCR (2,589,801 copies/mL, reference range <100 copies/mL). …”
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    Prenatal Diagnosis of Concurrent Achondroplasia and Klinefelter Syndrome by Esther Perez-Carbajo, Ignacio Zapardiel, Luis Sanfrutos-Llorente, Sara Cruz-Melguizo, Cristina Martinez-Payo, Enrique Iglesias-Goy

    Published 2015-01-01
    “…In cases of prenatal diagnosis of achondroplasia with additional suspicious morphological abnormalities, an invasive test such as amniocentesis must be carried out to assess the karyotype normality.…”
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    Antenatal Bartter Syndrome: A Review by Y. Ramesh Bhat, G. Vinayaka, K. Sreelakshmi

    Published 2012-01-01
    “…Awareness, early recognition, maternal treatment with indomethacin, and amniocentesis allow the pregnancy to continue. Affected neonates are usually born premature, have postnatal polyuria, vomiting, failure to thrive, hypercalciuria, and subsequently nephrocalcinosis. …”
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    Trisomy 9 Mosaicism Diagnosed In Utero by Hironori Takahashi, Satoshi Hayashi, Yumiko Miura, Keiko Tsukamoto, Rika Kosaki, Yushi Itoh, Haruhiko Sago

    Published 2010-01-01
    “…We present three cases of trisomy 9 mosaicism diagnosed by amniocentesis with ongoing pregnancies after referral to our center due to fetal abnormalities. …”
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    Prenatal Diagnosis of 45,X/46,XX Mosaicism with Presence of SRY Gene. A Case Report by Pedro Alí Díaz-Véliz Jiménez, María Antonia Ocaña Gil, Leydi María Sosa Águila, Belkis Vidal Hernández

    Published 2013-10-01
    “…In the Provincial Medical Genetics Center, a 42-year-old pregnant woman underwent an amniocentesis which led to the detection of mosaic Turner Syndrome (45,X/46,XX). …”
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    Phytoestrogens in Human Pregnancy by John Jarrell, Warren G. Foster, David W. Kinniburgh

    Published 2012-01-01
    “…Women who had an indication for a genetic amniocentesis on the basis of late maternal age were approached for inclusion. …”
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    The First Case Report in Italy of Di George Syndrome Detected by Noninvasive Prenatal Testing by Giuseppina Rapacchia, Cristina Lapucci, Maria Carla Pittalis, Aly Youssef, Antonio Farina

    Published 2015-01-01
    “…The patient had an amniocentesis to confirm the diagnosis by MLPA (multiplex ligation-dependent probe amplification) and an ultrasound aimed to detect the features associated with the syndrome. …”
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    Amniotic Fluid β2- Microglobulin Measurements by Emine Aydın, Alp Tuna Beksaç, Ergün Karaağaoğlu, M. Sinan Beksaç

    Published 2015-04-01
    “…STUDY DESIGN: One hundred patient’s amniotic fluid β2-microglobulin levels had been evaluated retrospectively (March-October 2009). The most common amniocentesis indication was advanced maternal age (33.3%). …”
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    Prenatal Detection of Silver–Russell Syndrome: A First Trimester Suspicion and Diagnostic Approach by Slavyana Galeva, Giuliana Diglio, Boris Stoilov, Ekaterina Uchikova, Lucian Pop

    Published 2025-01-01
    “…A further evaluation, including amniocentesis and genetic testing, was performed. <i>Results:</i> Genetic testing identified hypomethylation at the 11p15 imprinting control region, confirming the diagnosis of SRS. …”
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    Novel Mutation in the PKHD1 Gene Diagnosed Prenatally in a Fetus with Autosomal Recessive Polycystic Kidney Disease by Pankaj Thakur, Paul Speer, Aleksandar Rajkovic

    Published 2014-01-01
    “…Progressive oligohydramnios was not evident until 29 weeks of gestation, with anhydramnios noted by 35 weeks of gestation. Amniocentesis was performed for karyotype and to search for mutations in the PKHD1 for the presumptive diagnosis of autosomal recessive polycystic kidney disease (ARPKD). …”
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    Congenital Anomalies and Termination of Pregnancy in Iran by Bahram Samadirad, Zhila Khamnian, Mohammad Bager Hosseini, Saeed Dastgiri

    Published 2012-01-01
    “…The proportion of other screening tests including amniocentesis and genetic tests were 2.8 and 4.6 percent, respectively. …”
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    Antenatal Ultrasound Findings in Fetus with Down Syndrome by Mehmet Serdar KÜTÜK, Mahmut Tuncay ÖZGÜN, Mehmet Dolanbay, Gülsüm Uysal, Aslı Uzak, Elif Kulengir, Semih Uludağ, Mustafa Başbuğ

    Published 2014-04-01
    “…The invasive testing consisted of chorionic villus sampling (10.4%), amniocentesis (83.5%), and cordocentesis (5.9%). In 54 patients, the ultrasonographic evaluation revealed major malformation and/or Down syndrome marker (80.5%), and 38 cases had more than one marker/malformation (56.7%). …”
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