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Prenatal Diagnosis

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https://www.readbyqxmd.com/read/29752823/prenatal-diagnosis-of-megacystis-microcolon-intestinal-hypoperistalsis-syndrome-by-biochemical-analysis-of-fetal-urine
#1
Jonathan Rosenblatt, Sophie Dreux, Emmanuel Spaggiari, Cécile Morin, Bichr Allaf, Anne Sylvie Valat, Danny Halim, Jean-François Oury, Françoise Muller
OBJECTIVES: To determine a model of fetal urine biochemical markers to differentiate megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) from other megacystis. METHOD: Retrospective study of biochemical analysis of fetal urine in patients who presented prenatally with megacystis. We studied β2-microglobulin, sodium, calcium, and phosphorus. Twenty-six patients subsequently diagnosed with MMIHS were compared with two control groups: one of end-stage renal failure (ESRF, 64 fetuses) and the second of "good" postnatal renal function (control group, 64 fetuses)...
May 12, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29752808/prenatal-sonographic-description-of-fetuses-affected-by-pyruvate-dehydrogenase-or-pyruvate-carboxylase-deficiency
#2
Olivier Picone, Charles Egloff, Aurelia Eldin de Pecoulas, Charlotte Mechler, Audrey Boutron, Isabelle Simon, Agnes Guet, Jeanne Sibiude, Laurent Mandelbrot
INTRODUCTION: Pyruvate dehydrogenase deficiency (PDHD) and pyruvate carboxylase deficiency (PCD) are diseases with severe neonatal forms, and their low prevalence makes them difficult to diagnose during pregnancy. Our objective was to describe prenatal ultrasound features that may be suggestive of these diagnoses. METHODS: We analyzed 3 cases from our institution and reviewed 12 published cases of PDHD and 6 cases of PCD, recording all of the ultrasound signs, as well as magnetic resonance (MR) findings when available...
May 12, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29748962/novel-usage-of-micro-focus-computed-tomography-micro-ct-for-visualisation-of-human-embryonic-development-implications-for-future-non-invasive-post-mortem-investigation
#3
Susan Cheng Shelmerdine, John Ciaran Hutchinson, Xin Kang, Joseph D Suich, Michael Ashworth, Mieke M Cannie, Valerie Segers, Neil J Sebire, Jacques C Jani, Owen J Arthurs
No abstract text is available yet for this article.
May 10, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29740836/pitfalls-and-clues-in-the-prenatal-diagnosis-of-abnormal-origin-of-one-the-pulmonary-artery-branches
#4
Edwin Quarello, Florent Paoli, Antoine Lafouge, Bertrand Stos, Guillaume Gorincour
No abstract text is available yet for this article.
May 9, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29740835/factors-associated-to-early-intrauterine-fetal-demise-after-laser-for-ttts-by-pre-operative-fetal-heart-and-doppler-ultrasound
#5
Amélie Delabaere, France Leduc, Quentin Reboul, Florent Fuchs, Sandrine Wavrant, Johanne Dubé, Jean-Claude Fouron, François Audibert
OBJECTIVE: To determine the prognostic value of fetal Doppler and echocardiographic parameters for intra-uterine fetal demise (IUFD) within 24 hours and within one week after laser coagulation in monochorionic pregnancies complicated by twin-twin transfusion syndrome (TTTS). METHOD: This retrospective study correlated the preoperative hemodynamic and echocardiography parameters to the outcome in fetuses with TTTS undergoing laser therapy. RESULTS: One hundred and twelve laser coagulations were performed between February 2006 and June 2015...
May 9, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29740832/perinatal-outcomes-of-single-fetal-survivor-after-fetal-intervention-for-complicated-monochorionic-twins
#6
Mallory Hoffman, Mounira Habli, Roopali Donepudi, Noemi Boring, Anthony Johnson, Kenneth J Moise, Ramesha Papanna
OBJECTIVE: To compare perinatal outcomes between acute single fetal demise following FLP to planned selective reduction (SR) in complicated monochorionic (MC) twin pregnancies. METHODS: This was a secondary analysis of prospectively collected data in complicated MC twin pregnancies from two fetal centers from 2011-2016. Group 1 included women undergoing FLP for TTTS who experienced a single fetal demise within 24 hours of the procedure. Group 2 consisted of women undergoing planned SR with TTTS, and Group 3 SR for indications other than TTTS...
May 9, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29739032/management-and-outcome-of-neonates-with-a-prenatal-diagnosis-of-esophageal-atresia-type-a-a-population-based-study
#7
C Garabedian, A Bonnard, V Rousseau, R Sfeir, S Blanc, J Boubnova, C Jacquier, S Irtan, A Breton, V Fouquet, A Guinot, T Lamireau, E Habonimana, A Schneider, F Elbaz, A Ranke, M L Poli-Merol, N Kalfa, T Petit, J-L Michel, P Buisson, J Lirussi-Borgnon, H Lardy, B Parmentier, C Cremillieux, F Schmitt, C Borderon, O Jaby, C Pelatan, P De Vries, M Pouzac-Arnould, C Grosos, J Breaud, C Tolg, Y Chaussy, C Laplace, E E Drumez, L Michaud, F Gottrand, V Houfflin-Debarge
OBJECTIVE: Evaluate the neonatal management and outcomes of neonates with prenatal diagnosis of esophageal atresia EA type A. METHODS: This population-based study was conducted using data from the French National Register for Infants with EA born from 2008 to 2014, including all cases of EA type A. We compared prenatal and neonatal characteristics and outcomes in children with prenatal diagnosis of EA type A to those with a postnatal diagnosis until the age of one...
May 8, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29722035/time-and-temperature-dependence-of-radiofrequency-ablation-in-the-human-placenta
#8
Nisarat Phithakwatchara, Preechaya Makarasen, Katika Nawapun, Suchanan Hanamornroongruang, Sommai Viboonchart, Tuangsit Wataganara
OBJECTIVE: To compare radiofrequency (RF) effects on fresh placentae with varying levels of sustained time (Ts) and degrees of target temperature (o t). METHOD: A total of 108 pieces of fresh placentae were coagulated with a 2-cm RF needle at 60 W in an organ bath. The vertical and horizontal diameters (Vd, Hd) of tissue coagulation visualized by ultrasound were measured. The impacts of 12 different Ts-o t combinations on the ablation size ascertained on pathological examination (Vdp , Hdp ) were compared using two-way ANOVA...
May 2, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29683524/fetal-sex-determination-in-twin-pregnancies-using-cell-free-fetal-dna-analysis
#9
Miguel Milan, Emilia Mateu, David Blesa, Monica Clemente-Ciscar, Carlos Simon
OBJECTIVE(S): We sought to develop an accurate sex classification method in twin pregnancies using data obtained from a standard commercial non-invasive prenatal test. STUDY DESIGN: A total of 706 twin pregnancies were included in this retrospective analytical data study. Normalized chromosome values for chromosomes X and Y were used and adapted into a sex-score to predict fetal sex in each fetus and results were compared to the clinical outcome at birth. RESULTS: Outcome information at birth for sex chromosomes was available for 232 twin pregnancies...
April 23, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29683194/clinical-experience-with-multigene-carrier-panels-in-the-reproductive-setting
#10
Catherine Terhaar, Nicole Teed, Rachel Allen, Lindsay Dohany, Christina Settler, Carol Holland, Ryan E Longman
OBJECTIVES: Expanded carrier testing is acknowledged as an acceptable strategy for carrier testing by the American College of Obstetrics and Gynecology. Limited studies have investigated positivity rates of expanded carrier panels. We describe our experience with three commercial laboratory panels varying in size from 3 to 218 disorders. METHODS: We reviewed outcomes for three multigene carrier screening panels: Trio (3 diseases), Standard (23 diseases), and Global (218 diseases)...
April 23, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29675904/risk-factors-for-fetal-death-after-radiofrequency-ablation-for-complicated-monochorionic-twin-pregnancies
#11
Luming Sun, Gang Zou, Yingjun Yang, Fenhe Zhou, Duan Tao
OBJECTIVE: Radiofrequency ablation (RFA) is a management alternative for complicated monochorionic twin pregnancies. The purpose of this study is to evaluate risk factors for fetal death after RFA. METHODS: An observational study was performed to document the perinatal outcomes of all cases undergoing fetal reduction using RFA from 2010 to 2016 at the Shanghai First Maternity and Infant Hospital. A multiple regression model was built to identify predictors of the death of the remaining fetus after RFA...
April 19, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29675828/effect-of-prenatal-diagnosis-on-hospital-costs-in-complete-transposition-of-the-great-arteries
#12
Dipankar Gupta, Meredith E Mowitz, Dalia Lopez-Colon, Connie S Nixon, Himesh V Vyas, Jennifer G Co-Vu
OBJECTIVE: Prenatal diagnosis of congenital heart disease (CHD) is associated with improved clinical outcomes, yet its impact on the cost of hospitalization is not well described. We hypothesized that prenatal diagnosis of complete transposition of the great arteries (d-TGA) results in lower total hospital costs compared to postnatal diagnosis. METHODS: Retrospective analysis of infants with d-TGA repaired at our center from July 2006- 2014. Total charges from initial hospitalization until discharge were converted to costs using the cost-to-charge ratio, and then converted into 2016 dollars using the Consumer Price Index...
April 19, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29665020/type-ii-and-iii-congenital-pulmonary-airway-malformation-with-hydrops-treated-in-utero-with-percutaneous-sclerotherapy
#13
Andrew H Chon, Lisa M Korst, Mira Abdel-Sattar, Arlyn Llanes, Joseph G Ouzounian, Ramen H Chmait
OBJECTIVE: To present outcomes of fetuses with congenital pulmonary airway malformation (CPAM) treated with sclerotherapy. METHODS: Retrospective study of 8 patients with a prenatal diagnosis of CPAM type II or III with secondary hydrops treated with percutaneous sclerotherapy using 5% ethanolamine oleate (EO). All patients underwent ultrasonic measurement of the CPAM volume ratio (CVR). Results are expressed as median (range). RESULTS: Gestational age (GA) at initial sclerotherapy was 22...
April 17, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29663466/first-trimester-screening-for-major-cardiac-defects-based-on-the-ductus-venosus-flow-in-fetuses-with-trisomy-21
#14
Philipp Wagner, Jiri Sonek, Katrin Eberle, Harald Abele, Markus Hoopmann, Natalia Prodan, Karl Oliver Kagan
OBJECTIVE: To examine whether in fetuses with trisomy 21 (T21), the ductus venosus (DV) flow differs in presence of a major cardiac defect (CHD) and whether this affects the risk distribution in first trimester screening for T21. METHODS: Retrospective study involving pregnant women who underwent first trimester screening. This involves an examination of the CRL, the NT, the DV flow, and the heart. 3 groups of fetuses were examined: euploid without CHD, T21 with and without CHD...
April 16, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29663461/the-legal-frameworks-that-govern-fetal-surgery-in-the-united-kingdom-european-union-and-the-united-states
#15
REVIEW
Kevin X Cao, Alice Booth, Sebastien Ourselin, Anna L David, Richard Ashcroft
The specialty of fetal surgery or fetal intervention is one of the most exciting emerging fields of modern medicine. It is made possible by decades of major developments in antenatal imaging, obstetric anaesthesia, fetal medicine, paediatric surgery and of course by the bold and novel practitioners willing to take new steps to advance the field. Beginning in the 1970s it has now reached a stage of maturity where there are several established in-utero procedures and countless clinical trials and studies to develop more...
April 16, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29655231/noninvasive-fetal-sex-determination-by-analysis-of-cell-free-fetal-dna-in-maternal-capillary-blood-obtained-by-fingertip-puncture
#16
Ticiane Henriques Santa Rita, Camila Santos Nobre, Rafael Henriques Jácomo, Lídia Freire Abdalla Nery, Gustavo Barcelos Barra
No abstract text is available yet for this article.
April 14, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29644715/comparison-of-biochemical-analysis-of-fetal-serum-and-fetal-urine-in-the-prediction-of-postnatal-renal-outcome-in-lower-urinary-tract-obstruction
#17
Emmanuel Spaggiari, Julien J Stirnemann, Sara Benedetti, Sophie Dreux, Laurent J Salomon, Thomas Blanc, Jonathan Rosenblatt, Romain Favre, Yves Ville, Françoise Muller
OBJECTIVES: To compare the prognostic value of fetal serum biochemistry and fetal urine biochemistry in predicting renal outcome in LUTO. METHODS: We retrospectively studied renal outcome following a prenatal diagnosis of LUTO in cases for which both fetal blood and fetal urine were sampled. We classified the renal outcome as either "favorable", when postnatal renal function was normal, or "adverse", in the case of postnatal chronic renal failure or when renal histological lesions were present at autopsy in the case of termination of pregnancy...
April 12, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29644704/close-but-not-quite-two-cases-of-sex-chromosome-aneuploidies-outside-the-scope-of-cell-free-dna-screening
#18
Katelynn G Sagaser, Blair Stevens, Jessica Davis, Hope Northrup, Aarti Ramdaney
No abstract text is available yet for this article.
April 12, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29633288/measurement-of-fetal-atrioventricular-time-intervals-a-comparison-of-three-spectral-doppler-techniques
#19
Sanitra Anuwutnavin, Kamonwan Kolakarnprasert, Pharuhas Chanprapaph, Mark Sklansky, Nadda Mongkolchat
OBJECTIVE: To establish nomograms for fetal atrioventricular (AV) time intervals assessed by three different pulsed-wave Doppler (PD) techniques: left ventricular inflow and outflow tracts (LV in/out), superior vena cava and ascending aorta (SVC/AA), and pulmonary artery and pulmonary vein (PA/PV). METHODS: A cross-sectional study was performed in 311 normal fetuses divided into 5 groups between 16 and 38 weeks. PD-derived AV intervals were measured by interrogation of flow in LV in/out, SVC/AA, and PA/PV...
April 6, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29633279/biological-explanations-for-discordant-noninvasive-prenatal-test-results-preliminary-data-and-lessons-learned
#20
Louise Wilkins-Haug, Chengsheng Zhang, Eliza Cerveira, Mallory Ryan, Adam Mil-Homens, Qihui Zhu, Honey Reddi, Charles Lee, Diana W Bianchi
OBJECTIVE: Maternal plasma cell free DNA (cfDNA) analysis is a powerful screening tool for Down syndrome. In a pilot series, we examined biologic causes of discordance between the cfDNA test results and the fetal karyotype. We also explored the feasibility of obtaining trio biospecimens using parental engagement. METHODS: A convenience sample of women with discordant cfDNA results were recruited by their care providers. We provided shipping materials and instructions for biospecimen collection...
April 6, 2018: Prenatal Diagnosis
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