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Clinical Experience of Laboratory Follow‐Up with Non‐Invasive Prenatal Testing Using Cell‐Free Dna and Positive Microdeletion Results in 349 Cases

16-Jan-2018 | S. Schwartz, M. Kohan, R. Pasion, P.R. Papenhausen, L.D. Platt, Prenatal Diagnosis, 2018

Abstract Objective Screening via non‐invasive prenatal testing (NIPT) involving the analysis of cell‐free DNA (cfDNA) from plasma has become readily available to screen for chromosomal and DNA aberrations through maternal blood. This report reviews a laboratory's experience with follow‐up of ...

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Patient‐controlled tissue collection for genetic testing after early pregnancy loss, a pilot study

16-Jan-2018 | Alexander Kucherov, Jessica Atrio, Zev Williams, Prenatal Diagnosis, 2018

Abstract Objective To determine how frequently and effectively products of conception can be obtained among women pursuing medical management of early pregnancy loss. Methods This pilot study was conducted to assess products of conception recovery outcomes for participants opting for ...

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Noninvasive reconstruction of placental methylome from maternal plasma DNA: potential for prenatal testing and monitoring

15-Jan-2018 | Kun Sun, Fiona M.F. Lun, Tak Y. Leung, Rossa W.K. Chiu, Y.M. Dennis Lo, Hao Sun, Prenatal Diagnosis, 2018

Abstract Objective During human pregnancy, the DNA methylation of placental tissue is highly relevant to the normal growth and development of the fetus, therefore methylomic analysis of the placental tissue possesses high research and clinical value in prenatal testing and monitoring. Thus ...

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Myocardial Injury in Fetal Aortic Stenosis: Insights from Amniotic Fluid Analysis

12-Jan-2018 | Kevin G. Friedman, Lynn A. Sleeper, Raina N. Fichorova, Taylor Weilnau, Wayne Tworetzky, Louise E. Wilkins‐Haug, Prenatal Diagnosis, 2018

Abstract Objective Fetal aortic stenosis (AS) imposes pressure load on the developing left ventricle (LV) and leads to derangements in myocardial structure and function via mechanisms that are not well characterized. Methods We compared amniotic fluid NT‐BNP and troponin levels in ...

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Ultrasound findings provide clues to investigate founder mutations expressed as runs of homozygosity in chromosomal microarray studies

12-Jan-2018 | Hagit Daum, Israela Lerer, Ayala Frumkin, Daniel Rosenak, Nili Yanai, Shay Porat, Simcha Yagel, Vardiella Meiner, Prenatal Diagnosis, 2018

Abstract Objectives Chromosomal microarray (CMA) analysis is effectively applied prenatally to detect copy number changes. SNP probes included in the microarray platform can detect regions of excessive homozygosity (ROH) and identical‐by‐descent genomic stretches. The utility of the latter ...

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Ultrasound findings provide clues to investigate founder mutations expressed as runs of homozygosity in chromosomal microarray studies

12-Jan-2018 | Hagit Daum, Israela Lerer, Ayala Frumkin, Daniel Rosenak, Nili Yanai, Shay Porat, Simcha Yagel, Vardiella Meiner, Prenatal Diagnosis, 2018

Abstract Objectives Chromosomal microarray (CMA) analysis is effectively applied prenatally to detect copy number changes. SNP probes included in the microarray platform can detect regions of excessive homozygosity (ROH) and identical‐by‐descent genomic stretches. The utility of the latter ...

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Conflict of interest related to clinical practice is under‐reported: the case of non‐invasive prenatal testing

10-Jan-2018 | Adam J. Wolfberg, Prenatal Diagnosis, 2018

Abstract Authors of policy statements from the American College of Obstetrics and Gynecology and from the Society for Maternal‐Fetal Medicine do not acknowledge the potential for their clinical income to influence their opinions, or the positions of the societies they represent. These policy ...

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ACOG and SMFM Guidelines for Prenatal Diagnosis: Is Karyotyping Really Sufficient?

09-Jan-2018 | Sara B. Hay, Trilochan Sahoo, Mary K. Travis, Karine Hovanes, Natasa Dzidic, Charles Doherty, Michelle N. Strecker, Prenatal Diagnosis, 2018

Abstract Objective The American College of Obstetricians and Gynecologists (ACOG) and Society for Maternal‐Fetal Medicine (SMFM) recommend chromosomal microarray analysis (CMA) for prenatal diagnosis in cases with one or more fetal structural abnormalities. For patients who elect prenatal ...

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Severe fetal hydronephrosis: the added value of associated congenital anomalies of the kidneys and urinary tract (CAKUT) in the prediction of postnatal outcome.

05-Jan-2018 | Sharon Perlman, Lucia Roitman, Danny Lotan, Zvi Kivilevitch, Benjamin Dekel, Naomi Pode‐Shakked, Ben Pode‐Shakked, R ..., Prenatal Diagnosis, 2018

Abstract Objective To focus on fetuses diagnosed with severe hydronephrosis and correlate pre‐natal sonographic characteristics with post‐natal outcome. Methods Cases presenting prenatally with severe hydronephrosis (APRPD) >15 mm) were collected retrospectively over a period of 11 ...

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cfDNA screening and diagnosis of monogenic disorders – where are we heading?

05-Jan-2018 | Eunice Ka Long Chiu, Winnie Wai In Hui, Rossa Wai Kwun Chiu, Prenatal Diagnosis, 2018

Abstract Cell‐free fetal DNA analysis for non‐invasive prenatal screening of fetal chromosomal aneuploidy has been widely adopted for clinical use. Fetal monogenic diseases have also been shown to be amenable to non‐invasive detection by maternal plasma DNA analysis. A number of recent ...

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