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Prenatal Diagnosis

Sophie Dreux, Jonathan Rosenblatt, Amélie Moussy-Durandy, Franck Patin, Romain Favre, Stephen Lortat-Jacob, Alaa El Ghoneimi, Jean-François Oury, Georges Deschenes, Yves Ville, Laurence Heidet, Francoise Muller
OBJECTIVE: Because the literature on the predictive value of fetal urinalysis is controversial in fetuses with lower urinary tract obstruction, we determined the best model of fetal urine biochemical markers correlated with long-term postnatal renal function based on glomerular filtration rate (GFR). METHOD: This retrospective study concerned 89 fetuses with lower urinary tract obstruction and their renal function after 10 years of age. We correlated fetal urine biochemical markers (total protein, β2-microglobulin, sodium, chloride, glucose, calcium, phosphorus) with GFR at 10-30 years of age in 89 patients with posterior urethral valves...
September 12, 2018: Prenatal Diagnosis
X C Donato, M P Brechard, P François-Renard, D Hairion, E Quarello, M Hoffet, M Katsogiannou, R Desbriere
No abstract text is available yet for this article.
September 9, 2018: Prenatal Diagnosis
Ioannis Papastefanou, Charalambos Chrelias, Charalambos Siristatidis, Dimitra Kappou, Makarios Eleftheriades, Dimitrios Kassanos
OBJECTIVE: to evaluate the predictive value of first trimester placental volume in pregnancies destined to develop fetal growth restriction (FGR) and preeclampsia (PE). METHODS: Prospective observational study including placentas from 34 FGR, 12 PE, 15 GH (gestational hypertension) pregnancies and 265 controls. Placental volume (PV) was obtained using VOCAL technique and a z-score was calculated (z-PV). The association of PV with other first trimester variables and maternal characteristics was assessed with Spearman's correlation...
September 6, 2018: Prenatal Diagnosis
Carolien Zwiers, Dick Oepkes, Enrico Lopriore, Frans J Klumper, Masja de Haas, Inge L van Kamp
OBJECTIVE: In this study, we aim to evaluate trends in the condition of fetuses and neonates with hemolytic disease at the time of first intrauterine transfusion and at birth, in relation to routine first trimester antibody screening, referral guidelines and centralization of fetal therapy. METHOD: A 30-year cohort study including all women and fetuses treated with intrauterine transfusion for red-cell alloimmunization at the Dutch national referral center for fetal therapy...
September 6, 2018: Prenatal Diagnosis
Diane Van Opstal, Karin E M Diderich, Marieke Joosten, Lutgarde C P Govaerts, Joke Polak, Marjan Boter, Jasper J Saris, Wai Yee Cheung, Stefanie van Veen, Robert van de Helm, Attie T J I Go, Maarten F C M Knapen, Dimitri N M Papatsonis, Anneke Dijkman, Femke de Vries, R-J H Galjaard, Lies H Hoefsloot, Malgorzata I Srebniak
OBJECTIVE: Non-invasive prenatal testing (NIPT) detects placental chromosome aberrations. When amniocentesis reveals a normal karyotype, confined placental mosaicism (CPM) may be assumed. In order to confirm this, placental cytogenetic studies were performed. METHOD: NIPT was conducted in the course of the Dutch TRIDENT study. Placentas of 10 cases with NIPT results indicating an autosomal trisomy and showing a normal (N=9) or low mosaic karyotype (N=1) in amniotic fluid (AF), were investigated...
September 6, 2018: Prenatal Diagnosis
Alice Poulton, Sharon Lewis, Lisa Hui, Jane L Halliday
OBJECTIVE: To examine the state-wide utilization of prenatal diagnosis (PNDx) and preimplantation genetic diagnosis (PGT-M) for single gene disorders. METHODS: Population-based study of all women utilizing PNDx in the Australian state of Victoria from 1977-2016. Single gene disorders were categorised using a systematic approach that aimed to reflect aspects of the PNDx decision-making process. Data on PGT-M for single gene disorders from 2005 to 2016 were similarly examined for comparison...
September 5, 2018: Prenatal Diagnosis
Sarah Harris, Kelly Gilmore, Emily Hardisty, Anne Drapkin Lyerly, Neeta Vora
OBJECTIVE: Ethical and counseling challenges are expected with the introduction of prenatal whole exome sequencing. In this study, we describe specific challenges identified through the UNC-Chapel Hill Prenatal Exome Sequencing Study. METHODS: Participants were a subset of women participating in the fetal exome study, which has enrolled 73 mother-father-fetus trios in pregnancies diagnosed with structural anomalies and normal standard genetic testing results. In this descriptive study, cases were reviewed by members of the research team, including a bioethicist, to identify counseling challenges...
September 1, 2018: Prenatal Diagnosis
Abhishek Chakraborty, Sudheer R Gorla, Sethuraman Swaminathan
OBJECTIVES: The objective of this study was to analyze the benefits associated with prenatal diagnosis of complex congenital heart disease (CHD) on preoperative morbidity, 30-day and 1-year mortality in this population. METHOD: This was a retrospective review of patients with complex CHD born at our tertiary care center over a 10-year period. Date analysis using student T-test and chi square test. RESULTS: The overall rate of prenatal detection of complex CHD was 68...
September 1, 2018: Prenatal Diagnosis
Eran Bornstein, Moti Gulersen, David Krantz, Sau W Cheung, Kristen Maliszewski, Michael Y Divon
OBJECTIVE: To determine whether abnormal levels of first-trimester maternal serum free β-hCG and PAPP-A are associated with significant copy number variants (CNVs) on chromosomal microarray analysis (CMA). METHODS: Retrospective cohort of singleton prenatal CMA studies (n = 2880). Cases with an abnormal karyotype, benign familial or de novo variants, and absence of heterozygosity were excluded. The prevalence of abnormal serum analytes was compared between patients with significant CNVs (n = 56) and those with normal CMA (n = 884)...
August 29, 2018: Prenatal Diagnosis
M Katharine Rudd, Justin B Schleede, Sabrina R Williams, Kristy Lee, Jennifer Laffin, Romela Pasion, Peter R Papenhausen
Noninvasive prenatal testing (NIPT) accurately detects trisomy for chromosomes 13, 21, and 18, but has a significantly lower positive predictive value (PPV) for monosomy X. Discordant monosomy X results are often assumed to be due to maternal mosaicism, usually without maternal follow up. We describe a case of monosomy X positive NIPT that was discordant with the 46,XX results from amniocentesis and postnatal testing. This monosomy X pregnancy doubled the single X chromosome, leading to 45,X/46,XX mosaicism in the placenta and uniparental isodisomy X in the amniotic fluid...
August 29, 2018: Prenatal Diagnosis
Stacey Power, Sarah Meaney, Keelin O'Donoghue
OBJECTIVE: The objective of the study is to evaluate the general population's knowledge of fatal foetal anomaly (FFA). METHODS: Descriptive statistics were utilised to describe the data. Chi-square tests assessed associations with knowledge of FFA, termination of pregnancy (TOP) for FFA, and perinatal palliative care (PPC). RESULTS: Nine hundred seventy adults of the Irish population selected by random digit dialling with 83.9% (n = 814) agreed to partake...
August 24, 2018: Prenatal Diagnosis
Sheila M P Everwijn, Amber E L van Nisselrooij, Lieke Rozendaal, Sally-Ann B Clur, Eva Pajkrt, Jaroslav Hruda, Ingeborg H Linskens, Jan M van Lith, Nico A Blom, Monique C Haak
OBJECTIVES: The aim of this study was to analyze the annual detection rate (DR) of transposition of the great arteries (TGA) and tetrology of Fallot (ToF), after the introduction of the three-vessel view as a mandatory plane in 2012. METHODS: All registered TGA and ToF cases were retrospectively extracted from our registry between 2007 and 2016. We compared the DR in a 10-year period, before 2011, with the DR of TGA and ToF after 2012. RESULTS: In the period before 2012, 23 of the 52 TGA cases were prenatally detected (44...
August 22, 2018: Prenatal Diagnosis
Diana Wellesley, David T Howe
OBJECTIVE: To determine the outcome of all pregnancies with nonhydropic fetal pleural effusions in the Wessex region. METHOD: Data were extracted from the Wessex congenital anomaly database for the years 1994-2015 inclusive. RESULTS: Sixty-two fetuses and babies were identified giving a total prevalence of 1:9500. Eight fetuses had bilateral effusions with additional, nonhydrops anomalies, and 54 had isolated effusions. Of the isolated cases, 36 presented before 24-week gestation: 12 were unilateral and 24 bilateral...
August 10, 2018: Prenatal Diagnosis
Usha D Nagaraj, Maria A Calvo-Garcia, Arnold C Merrow, Bin Zhang, Beth M Kline-Fath
OBJECTIVE: To evaluate rectal meconium signal in fetuses with open spinal dysraphism and correlate findings with postnatal exam. METHODS: This is a single-institution Institutional Review Board-approved Health Insurance Portability and Accountability Act (HIPAA) compliant retrospective analysis of fetal MRIs of open spinal dysraphism from 2004 to 2016. Fetuses with diagnostic T1-weighted images and postnatal follow-up at our institution were included. RESULTS: A total of 115 fetuses (average gestational age 23...
August 10, 2018: Prenatal Diagnosis
Ewa Parfieniuk, Paulina Samczuk, Tomasz Kowalczyk, Karolina Pietrowska, Magdalena Niemira, Magdalena Paczkowska-Abdulsalam, Slawomir Wolczynski, Adam Kretowski, Michal Ciborowski, Monika Zbucka-Kretowska
OBJECTIVE: The objective of the study was to perform maternal plasma metabolic fingerprinting to evaluate differences in plasma metabolites between healthy and Down syndrome (DS) pregnancies and to indicate novel non-invasive markers for DS prenatal diagnostics. METHODS: This was a case-control study of pregnancies between 15th and 18th gestational week. LC-MS-based metabolic fingerprinting of plasma samples was performed. RESULTS: Levels of five metabolites were significantly lower in the plasma of DS pregnancies...
August 10, 2018: Prenatal Diagnosis
Shen Gu, Madison Jernegan, Ignatia B Van den Veyver, Sandra Peacock, Janice Smith, Amy Breman
OBJECTIVE: This study aims to establish the incidence and implications of confined placental mosaicism (CPM) in the context of prenatal chromosomal microarray analysis (CMA). METHODS: We retrospectively reviewed prenatal array data on 1382 consecutive chorionic villus sampling (CVS) specimens spanning the past 6 years, focusing on those for which whole CVS biopsy (both cytotrophoblast and mesenchymal cells) was used for CMA and cultured cells (primarily mesenchyme) was also analyzed or amniotic fluid (AF)/newborn blood was used for confirmation, to determine the frequency of mosaic abnormal findings that were the result of CPM...
August 9, 2018: Prenatal Diagnosis
Junhui Wan, Ru Li, Yongling Zhang, Xiangyi Jing, Qiuxia Yu, Fatao Li, Yan Li, Lina Zhang, Cuixing Yi, Jian Li, Dongzhi Li, Can Liao
OBJECTIVE: The objective of the study is to report the incidence and pregnancy outcome of autosomal aneuploidies other than common trisomies 21, 18, and 13 detected by noninvasive prenatal testing (NIPT) at a single center. METHODS: Pregnant women undergoing NIPT from February 2015 to January 2018 in our center were offered expanded screening to include rare autosomal aneuploidies. Aneuploidies included extra copy chromosomes (most likely trisomies) and decreased copy chromosomes (most likely monosomies)...
August 5, 2018: Prenatal Diagnosis
Lukas Penka, Karl-Oliver Kagan, Rangmar Goelz, Klaus Hamprecht
OBJECTIVE: The prognostic value of human cytomegalovirus detection (HCMV) DNA levels from amniotic fluid (AF) for the outcome of the infected newborn is still a matter of debate, especially if the onset of maternal primary infection at amniocentesis is unknown. The objective of this study was to investigate the analytical performance in short-term (18-hour) microculture from preconcentrated samples and quantitative real-time PCR (rtPCR) for diagnosis of fetal HCMV infection. METHODS: A retrospective diagnostic study was conducted on 51 AF samples taken from women that transmitted HCMV prenatally...
August 1, 2018: Prenatal Diagnosis
Aarti Ramdaney, Jennifer Hoskovec, Jacqueline Harkenrider, Eleazar Soto, Lauren Murphy
OBJECTIVE: The objectives of the study are to assess the accuracy of noninvasive prenatal testing (NIPT) for sex chromosome aneuploidies (SCAs) and to investigate patient decision-making in clinical practice. STUDY DESIGN: This is a retrospective cohort study review of positive NIPT results for SCAs from January 2013 to September 2017. RESULTS: Of the 136 positive NIPT results for SCAs, 73 (53.7%) were positive for 45,X, 62 (45.6%) were a sex chromosome trisomy, and 1 was a sex chromosome tetrasomy...
August 1, 2018: Prenatal Diagnosis
Yuan Ren, Jia Zhao, Ruibing Li, Yifan Xie, Shufang Jiang, Honghui Zhou, Hongtai Liu, Yanqin You, Fang Chen, Wei Wang, Ya Gao, Yuanguang Meng, Yanping Lu
OBJECTIVE: To explore the feasibility and accuracy of a noninvasive prenatal test for fibroblast growth factor receptor 3 (FGFR3)-related skeletal dysplasia based on next-generation sequencing (NGS) of plasma cell-free DNA. METHOD: Fragmented genome DNA (gDNA) of fetuses with achondroplasia (ACH) and thanatophoric dysplasia type I (TD I) was mixed with postdelivery maternal plasma cell-free DNA to generate spiked samples of different modeled fetal fractions. Multiplex polymerase chain reaction was used to amplify the 19 FGFR3 loci, and the amplification products were then sequenced by NGS to detect the fetal mutant alleles...
July 26, 2018: Prenatal Diagnosis
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