Search Results - "Prenatal diagnosis"

Preterm delivery, maternal death, and vertical transmission in a pregnant woman with COVID‐19 infection by Zamaniyan, Marzieh, Ebadi, Aghdas, Aghajanpoor, Samaneh, Rahmani, Zahra, Haghshenas, Mohammadreza, Azizi, Setareh

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Promises, pitfalls and practicalities of prenatal whole exome sequencing by Best, Sunayna, Wou, Karen, Vora, Neeta, Van der Veyver, Ignatia B., Wapner, Ronald, Chitty, Lyn S.

“…Prenatal genetic diagnosis provides information for pregnancy and perinatal decision‐making and management. In several small series, prenatal whole exome…”
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Diagnostic yield of exome sequencing for prenatal diagnosis of fetal structural anomalies: A systematic review and meta‐analysis by Mellis, Rhiannon, Oprych, Kathryn, Scotchman, Elizabeth, Hill, Melissa, Chitty, Lyn S

“…Objectives We conducted a systematic review and meta‐analysis to determine the diagnostic yield of exome sequencing (ES) for prenatal diagnosis of fetal…”
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Maternal obesity and neurodevelopmental and psychiatric disorders in offspring by Edlow, Andrea G.

“…There is a growing body of evidence from both human epidemiologic and animal studies that prenatal and lactational exposure to maternal obesity and high‐fat…”
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Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies by Grati, Francesca Romana, Molina Gomes, Denise, Ferreira, Jose Carlos Pinto B., Dupont, Celine, Alesi, Viola, Gouas, Laetitia, Horelli-Kuitunen, Nina, Choy, Kwong Wai, García-Herrero, Sandra, de la Vega, Alberto Gonzalez, Piotrowski, Krzysztof, Genesio, Rita, Queipo, Gloria, Malvestiti, Barbara, Hervé, Bérénice, Benzacken, Brigitte, Novelli, Antonio, Vago, Philippe, Piippo, Kirsi, Leung, Tak Yeung, Maggi, Federico, Quibel, Thibault, Tabet, Anne Claude, Simoni, Giuseppe, Vialard, François

“…Objectives The implementation of chromosomal microarray analysis (CMA) in prenatal testing for all patients has not achieved a consensus. Technical…”
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Discordant non‐invasive prenatal testing (NIPT) – a systematic review by Hartwig, Tanja Schlaikjær, Ambye, Louise, Sørensen, Steen, Jørgensen, Finn Stener

“…With a high sensitivity and specificity, non‐invasive prenatal testing (NIPT) is an incomparable screening test for fetal aneuploidy. However, the method is…”
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Position statement from the Chromosome Abnormality Screening Committee on behalf of the Board of the International Society for Prenatal Diagnosis by Benn, Peter, Borrell, Antoni, Chiu, Rossa W. K., Cuckle, Howard, Dugoff, Lorraine, Faas, Brigitte, Gross, Susan, Huang, Tianhua, Johnson, Joann, Maymon, Ron, Norton, Mary, Odibo, Anthony, Schielen, Peter, Spencer, Kevin, Wright, Dave, Yaron, Yuval

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International Society for Prenatal Diagnosis Updated Position Statement on the use of genome‐wide sequencing for prenatal diagnosis by Van den Veyver, Ignatia B., Chandler, Natalie, Wilkins‐Haug, Louise E., Wapner, Ronald J., Chitty, Lyn S.

“…The research and clinical use of genome‐wide sequencing for prenatal diagnosis of fetuses at risk for genetic disorders have rapidly increased in recent years…”
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Maternal complications following open and fetoscopic fetal surgery: A systematic review and meta‐analysis by Sacco, Adalina, Van der Veeken, Lennart, Bagshaw, Emma, Ferguson, Catherine, Van Mieghem, Tim, David, Anna L., Deprest, Jan

“…Objective To establish maternal complication rates for fetoscopic or open fetal surgery. Methods We conducted a systematic literature review for studies of…”
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Fetal fraction and noninvasive prenatal testing: What clinicians need to know by Hui, Lisa, Bianchi, Diana W.

“…The fetal fraction (FF) is a function of both biological factors and bioinformatics algorithms used to interpret DNA sequencing results. It is an essential…”
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Position statement from the International Society for Prenatal Diagnosis on the use of non‐invasive prenatal testing for the detection of fetal chromosomal conditions in singleton pregnancies by Hui, Lisa, Ellis, Katie, Mayen, Dora, Pertile, Mark D., Reimers, Rebecca, Sun, Luming, Vermeesch, Joris, Vora, Neeta L., Chitty, Lyn S.

“…Key points What is already known about this topic? In 2015, the International Society for Prenatal Diagnosis (ISPD) published its first position statement on…”
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Gestational age and maternal weight effects on fetal cell-free DNA in maternal plasma by Wang, Eric, Batey, Annette, Struble, Craig, Musci, Thomas, Song, Ken, Oliphant, Arnold

“…ABSTRACT Objective To determine the effects of gestational age and maternal weight on percent fetal cell‐free DNA (cfDNA) in maternal plasma and the change in…”
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Advanced paternal age, infertility, and reproductive risks: A review of the literature by Brandt, Justin S., Cruz Ithier, Mayra A., Rosen, Todd, Ashkinadze, Elena

“…Advanced paternal age (APA) is associated with infertility and other reproductive risks. Studies looking at APA and outcomes have used different paternal age…”
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Joint Position Statement from the International Society for Prenatal Diagnosis (ISPD), the Society for Maternal Fetal Medicine (SMFM), and the Perinatal Quality Foundation (PQF) on the use of genome‐wide sequencing for fetal diagnosis by Henson, Melissa

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Exome sequencing for prenatal diagnosis of fetuses with sonographic abnormalities by Drury, Suzanne, Williams, Hywel, Trump, Natalie, Boustred, Christopher, Lench, Nicholas, Scott, Richard H., Chitty, Lyn S.

“…Objective In the absence of aneuploidy or other pathogenic cytogenetic abnormality, fetuses with increased nuchal translucency (NT ≥ 3.5 mm) and/or other…”
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Uniparental disomy: Origin, frequency, and clinical significance by Benn, Peter

“…Uniparental disomy (UPD) is defined as two copies of a whole chromosome derived from the same parent. There can be multiple mechanisms that lead to UPD; these…”
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Determination of fetal DNA fraction from the plasma of pregnant women using sequence read counts by Kim, Sung K., Hannum, Gregory, Geis, Jennifer, Tynan, John, Hogg, Grant, Zhao, Chen, Jensen, Taylor J., Mazloom, Amin R., Oeth, Paul, Ehrich, Mathias, van den Boom, Dirk, Deciu, Cosmin

“…Objective This study introduces a novel method, referred to as SeqFF, for estimating the fetal DNA fraction in the plasma of pregnant women and to infer the…”
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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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Mechanisms and evidence of vertical transmission of infections in pregnancy including SARS‐CoV‐2s by Mahyuddin, Aniza P., Kanneganti, Abhiram, Wong, Jeslyn J.L., Dimri, Pooja S., Su, Lin L., Biswas, Arijit, Illanes, Sebastian E., Mattar, Citra N. Z., Huang, Ruby Y.‐J., Choolani, Mahesh

“…There remain unanswered questions concerning mother‐to‐child‐transmission of SARS‐CoV‐2. Despite reports of neonatal COVID‐19, SARS‐CoV‐2 has not been…”
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Trial by Dutch laboratories for evaluation of non-invasive prenatal testing. Part I-clinical impact by Oepkes, Dick, Page-Christiaens, G. C. (Lieve), Bax, Caroline J., Bekker, Mireille N., Bilardo, Catia M., Boon, Elles M. J., Schuring-Blom, G. Heleen, Coumans, Audrey B. C., Faas, Brigitte H., Galjaard, Robert-Jan H., Go, Attie T., Henneman, Lidewij, Macville, Merryn V. E., Pajkrt, Eva, Suijkerbuijk, Ron F., Huijsdens-van Amsterdam, Karin, Van Opstal, Diane, Verweij, E. J. (Joanne), Weiss, Marjan M., Sistermans, Erik A.

“…Objective To evaluate the clinical impact of nationwide implementation of genome‐wide non‐invasive prenatal testing (NIPT) in pregnancies at increased risk for…”
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