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Prenatal Diagnosis

Jose Carlos P Ferreira, Francesca R Grati, Komal Bajaj, Francesca Malvestiti, Maria Beatrice Grimi, Anna Trotta, Rosaria Liuti, Silvia Milani, Lara Branca, Jacob Hartman, Federico Maggi, Giuseppe Simoni, Susan J Gross
OBJECTIVES: No previous studies have reported the frequencies of individual chromosomal anomalies in normal-appearing fetuses stratified by maternal age (MA) and gestational age (GA). We therefore sought to (1) characterize the frequency of all fetal karyotype anomalies in sonographically normal appearing fetuses without pretest risk factors, and (2) assess MA and GA impact on the proportion of anomalies targeted by screening and consequent impact on residual risk following a negative result...
October 21, 2016: Prenatal Diagnosis
Nicolas Sananès, Victor Gabriele, Anne Sophie Weingertner, Rodrigo Ruano, Magdalena Sanz-Cortes, Adrien Gaudineau, Bruno Langer, Israël Nisand, Chérif Youssef Akladios, Romain Favre
OBJECTIVE: The primary objective of our study was to evaluate the long-term neurodevelopment outcome after laser surgery for twin-twin transfusion syndrome (TTTS). The secondary objective was to identify perinatal prognostic factors associated with neurodevelopmental impairment. METHOD: This was a single-center cohort prospective study carried out in pregnancies complicated by TTTS and treated by laser. Neurodevleopmental assesment included the administration of Ages and Stages Questionnaires® (ASQ), for the infants between two and five years of age...
October 20, 2016: Prenatal Diagnosis
Tai-Heng Chen, Xia Tian, Pao-Lin Kuo, Hui-Ping Pan, Lee-Jun C Wong, Yuh-Jyh Jong
BACKGROUND: Fetal akinesia deformation sequence (FADS) refers to a broad spectrum of disorder with the absent fetal movement as the unifying feature. The etiology of FADS is heterogeneous and the majority remains unknown. Prenatal diagnosis of FADS due to neuromuscular origin has relied on clinical features and fetal muscle pathology, which can be unrevealing. The recent advance of next generation sequencing (NGS) can provide definitive molecular diagnosis effectively. METHODS AND RESULTS: An 18-week old fetus presented with akinesia and multiple contractures of joints...
October 20, 2016: Prenatal Diagnosis
Steen Kølvraa, Ripudaman Singh, Elizabeth A Normand, Sadeem Qdaisat, Ignatia B Van denVeyver, Laird Jackson, Lotte Hatt, Palle Schelde, Niels Uldbjerg, Else Marie Vestergaard, Li Zhao, Rui Chen, Chad A Shaw, Amy M Breman, Arthur L Beaudet
OBJECTIVE: Non-invasive prenatal testing (NIPT) based on fetal cells in maternal blood has the advantage over NIPT based on circulating cell-free fetal DNA in that there is no contamination with maternal DNA. This will most likely result in better detection of chromosomal aberrations including subchromosomal defects. The objective of this study was to test whether fetal cells enriched from maternal blood can be used for cell-based NIPT. METHODS: We present a method for enriching fetal cells from maternal blood, subsequent amplification of the fetal genome and detection of chromosomal and subchromosomal variations in the genome...
October 19, 2016: Prenatal Diagnosis
Miyuki Nishiyama, Akihiko Sekizawa, Kohei Ogawa, Hideaki Sawai, Hiroaki Nakamura, Osamu Samura, Nobuhiro Suzumori, Setsuko Nakayama, Takahiro Yamada, Masaki Ogawa, Yukiko Katagiri, Jun Murotsuki, Yoko Okamoto, Akira Namba, Haruka Hamanoue, Masanobu Ogawa, Kiyonori Miura, Shunichiro Izumi, Yoshimasa Kamei, Haruhiko Sago
OBJECTIVE: To investigate the rates of termination of pregnancy (TOP) for fetal chromosomal abnormalities and factors related to such parental decision in Japan. METHODS: A multicenter retrospective cohort study of chromosomal abnormalities diagnosed before 22 weeks of gestation between April 2008 and March 2015. The pregnancy outcomes and parental decisions were investigated. RESULTS: Among 931 fetuses with chromosome abnormalities, the total TOP rate was 75...
October 19, 2016: Prenatal Diagnosis
Dick Oepkes, Lieve C Page-Christiaens, Caroline J Bax, Mireille N Bekker, Catia M Bilardo, Elles M J Boon, G Heleen Schuring-Blom, Audrey B C Coumans, Brigitte H Faas, Robert-Jan H Galjaard, Attie T Go, Lidewij Henneman, Merryn V E Macville, Eva Pajkrt, Ron F Suijkerbuijk, Karin Huijsdens-vanAmsterdam, Diane Van Opstal, E J Joanne Verweij, Marjan M Weiss, Erik A Sistermans
OBJECTIVE: To evaluate the clinical impact of nationwide implementation of genome-wide Non-Invasive Prenatal Testing (NIPT) in pregnancies at increased risk for fetal trisomies 21, 18 and 13. METHOD: Women with elevated risk based on first trimester combined testing (FCT ≥ 1:200) or medical history, not advanced maternal age alone, were offered NIPT as contingent screening test, performed by Dutch University Medical laboratories. We analyzed uptake, test performance, redraw/failure rate, turn-around time and pregnancy outcome...
October 17, 2016: Prenatal Diagnosis
Marja Kaijomaa, Veli-Matti Ulander, Esa Hämäläinen, Henrik Alfthan, Helene Markkanen, Seppo Heinonen, Vedran Stefanovic
OBJECTIVE: To analyze the risk of adverse pregnancy outcome in three subgroups with extremely low maternal PAPP-A, i.e. < 0.3 multiples of median (MoM) at the first trimester screening. METHOD: A cohort of 961 pregnancies with PAPP-A levels < 0.3 MoM at the first trimester combined screening was followed up during the study period of January 2009-December 2012. The incidences of adverse outcomes were determined in three subgroups with PAPP-A levels < 0...
October 17, 2016: Prenatal Diagnosis
Yuval Yaron, Jon Hyett, Sylvie Langlois
No abstract text is available yet for this article.
October 16, 2016: Prenatal Diagnosis
Dorte L Lildballe, Ida Vogel, Ida Lund, Inger Stornes, Mette Warming Jørgensen, Else Marie Vestergaard
No abstract text is available yet for this article.
October 15, 2016: Prenatal Diagnosis
Jiani Yin, Christian P Schaaf
Autism spectrum disorder (ASD) a highly heritable, clinically diverse group of neurodevelopmental disorders. Its genetic heterogeneity is remarkable, with more than 800 ASD predisposition genes identified to date. They are involved in various biological processes, including chromatin remodeling and gene transcription regulation, cell growth and proliferation, ubiquitination, and neuronal-specific processes, such as synaptic organization and activity, dendritic morphology and axonogenesis. This review aims to discuss basic autism genetics, ways to investigate ASD in model systems, highlight some key genes and their molecular pathways, and introduce novel theories of ASD pathogenesis, such as imbalance of excitatory and inhibitory brain activity, oligogenic heterozygosity, and the female protective model...
October 15, 2016: Prenatal Diagnosis
Rachel V van Schendel, Lieve Page-Christiaens, Lean Beulen, Catia M Bilardo, Marjon A de Boer, Audrey B C Coumans, Brigitte H Faas, Irene M van Langen, Klaske D Lichtenbelt, Merel C van Maarle, Merryn V E Macville, Dick Oepkes, Eva Pajkrt, Lidewij Henneman
OBJECTIVE: To evaluate preferences and decision-making amongst high-risk pregnant women offered a choice between Non-Invasive Prenatal Testing (NIPT), invasive testing or no further testing. METHODS: Nationwide implementation study (TRIDENT) offering NIPT as contingent screening test for women at increased risk for fetal aneuploidy based on first-trimester combined testing (>1:200) or medical history. A questionnaire was completed after counseling assessing knowledge, attitudes and participation following the Multidimensional Measure of Informed Choice...
October 14, 2016: Prenatal Diagnosis
Sharon Perlman, Dani Lotan, Benjamin Dekel, Zvi Kivilevitch, Yinon Hazan, Reuven Achiron, Yinon Gilboa
OBJECTIVE: To create nomograms of fetal renal compensatory growth in cases of unilateral renal agenesis. METHODS: A retrospective study of fetuses with isolated unilateral renal agenesis diagnosed prenatally, and confirmed post-natal was performed. RESULTS: Seventy four fetuses with isolated solitary kidney were included in the study. A total of one hundred thirty four measurements of the kidney's length were performed. Ninety five of them were studied longitudinally (2-6 measurements each)...
October 12, 2016: Prenatal Diagnosis
Florentine F Thurik, Marije Lamain-de Ruiter, Ahmad Javadi, Anneke Kwee, Heleen Woortmeijer, Godelieve C M L Page-Christiaens, Arie Franx, C Ellen van der Schoot, Wendy Koster
OBJECTIVE: To study associations of first trimester cell-free fetal DNA levels (in this paper referred to as cell-free placental DNA (cfpDNA) levels) and preeclampsia (PE), pregnancy-induced hypertension (PIH), gestational diabetes (GDM) and spontaneous preterm birth (sPB). METHOD: A nested case-control study was conducted in first trimester samples (gestational age (GA) 8(+0) -13(+6) weeks). A total of 226 cases and 301 controls were included. CfpDNA levels were quantified in male-bearing pregnancies using real-time DYS14-PCRs on DNA isolated from maternal serum...
October 12, 2016: Prenatal Diagnosis
Liran Hiersch, Mayan Eitan, Eran Ashwal, Boaz Weisz, Benny Chayen, Shlomo Lipitz, Yoav Yinon
OBJECTIVE: To estimate the risk for twin anemia-polycythemia sequence (TAPS) and adverse perinatal outcome in monochorionic diamniotic (MCDA) twin pregnancies with amniotic fluid discordance (AFD). METHODS: Retrospective cohort study of 34 MCDA pregnancies with AFD (intertwin difference of ≥3 cm in maximal vertical pocket measurement) without meeting the criteria for twin to twin transfusion syndrome (TTTS) or selective intrauterine growth restriction (sIUGR)...
October 12, 2016: Prenatal Diagnosis
Ran Svirsky, Ron Maymon, Yaakov Melcer, Esther Klog, Howard Cuckle
OBJECTIVE: To investigate maternal serum inhibin as a marker of pre-eclampsia in twins. METHODS: 143 twins and 109 unaffected singleton pregnancies were recruited in the first trimester from the same institution. Blood samples were stored at recruitment and in the second trimester, retrospectively tested for inhibin and values expressed in multiples of the gestation-specific median (MoMs) in singletons, adjusted for maternal weight, as appropriate. RESULTS: The median inhibin level in unaffected twins was 2...
October 12, 2016: Prenatal Diagnosis
Margareta D Pisarska, Marzieh Akhlaghpour, Bora Lee, Gillian M Barlow, Ning Xu, Erica T Wang, Aaron J Mackey, Charles R Farber, Stephen S Rich, Jerome I Rotter, Yii-der I Chen, Mark O Goodarzi, Seth Guller, John Williams
BACKGROUND: Multiple testing to understand global changes in gene expression based on genetic and epigenetic modifications is evolving. Chorionic villi, obtained for prenatal testing, is limited, but can be used to understand ongoing human pregnancies. However, optimal storage, processing and utilization of CVS for multiple platform testing has not been established. RESULTS: Leftover CVS samples were flash-frozen or preserved in RNAlater. Modifications to standard isolation kits were performed to isolate quality DNA and RNA from samples as small as 2-5 mg...
October 8, 2016: Prenatal Diagnosis
Anne S Bassett, Gregory Costain, Christian R Marshall
Most major neuropsychiatric outcomes of concern to families are not detectable by prenatal ultrasound. The introduction of genome-wide chromosomal microarray analysis to prenatal clinical diagnostic testing has increased the detection of pathogenic 22q11.2 deletions, which cause the most common genomic disorder. The recent addition of this and other microdeletions to non-invasive prenatal screening methods using cell-free fetal DNA has further propelled interest in outcomes. Conditions associated with 22q11...
October 8, 2016: Prenatal Diagnosis
Clare L Whitehead, Susan P Walker, Stephen Tong
Circulating nucleic acids have revolutionized prenatal diagnosis in the last decade, allowing non-invasive screening for single gene or chromosomal defects using a single sample of maternal blood. In addition to deoxyribonucleic acids (DNA), ribonucleic acids (RNA) from the placenta are released into the maternal blood from early in pregnancy and may reflect changes in gene expression occurring within the placenta. Measuring circulating RNA may therefore provide insights into the placental transcriptome without the need for invasive testing...
October 6, 2016: Prenatal Diagnosis
Nerea Maiz, Ignacio Alonso, María Belar, Jorge Burgos, Ana Irasarri, Francisca S Molina, Catalina De Paco, José I Pijoan, Walter Plasencia, Carlota Rodó, M Angeles Rodríguez, Mauricio Tajada, Albert Tubau
OBJECTIVE: to evaluate the acquisition-related factors influencing the quality of the brain volumes for further study of advanced neurosonography. METHODS: This was a prospective multicentre study. Five centres were asked to include five cases each, acquiring two volumes per case, at different gestational ages. Ten operators performed an advanced neurosonography per case. The potential influence of the following factors on the number of evaluable structures was assessed: vaginal/ abdominal acquisition, position of the head, gestational age, subjective quality of the volume, and the acquiring operator itself...
October 1, 2016: Prenatal Diagnosis
Andrea G Edlow
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 diet are associated with neurodevelopmental and psychiatric disorders in offspring. These disorders include cognitive impairment, autism spectrum disorders, attention deficit hyperactivity disorder, cerebral palsy, anxiety and depression, schizophrenia, and eating disorders. This review synthesizes human and animal data linking maternal obesity and high-fat diet consumption to abnormal fetal brain development and neurodevelopmental and psychiatric morbidity in offspring...
September 29, 2016: Prenatal Diagnosis
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