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Prenatal screening

Camila V Ventura, Maria Paula Fernandez, Ivan A Gonzalez, Delia M Rivera-Hernandez, Roberto Lopez-Alberola, Maria Peinado, Angelica A Floren, Patricia A Rodriguez, Basil K Williams, Gabriela de la Vega Muns, Ana J Rodriguez, Catherin Negron, Brenda Fallas, Audina M Berrocal
A 6-day-old female baby with known diagnosis of congenital Zika infection was referred for ophthalmologic examination. The mother (37 years old) was referred for a pruritic rash, conjunctival hyperemia, and malaise at 12 weeks of gestation while still living in Venezuela. Upon arrival to Miami, Zika virus (ZIKV) exposure was confirmed during prenatal screening. At birth, due to the known exposure, a complete congenital ZIKV workup was performed, including brain ultrasound and MRI, which disclosed calcifications in the frontal lobe...
October 1, 2016: Ophthalmic Surgery, Lasers & Imaging Retina
Abel Jacobus Bronkhorst, Janine Aucamp, Piet J Pretorius
In recent years, cell-free DNA (cfDNA) analysis has received increasing amounts of attention as a potential non-invasive screening tool for the early detection of genetic aberrations and a wide variety of diseases, especially cancer. However, except for some prenatal tests and BEAMing, a technique used to detect mutations in various genes of cancer patients, cfDNA analysis is not yet routinely applied in clinical practice. Although some confusing biological factors inherent to the in vivo setting play a key part, it is becoming increasingly clear that this struggle is mainly due to the lack of an analytical consensus, especially as regards quantitative analyses of cfDNA...
2016: Advances in Experimental Medicine and Biology
Chih-Ping Chen, Chen-Yu Chen, Schu-Rern Chern, Peih-Shan Wu, Yen-Ni Chen, Shin-Wen Chen, Chen-Chi Lee, Dai-Dyi Town, Meng-Shan Lee, Chien-Wen Yang, Wayseen Wang
OBJECTIVE: We present molecular cytogenetic characterization of an Xp22.32→pter deletion and an Xq26.3→qter duplication in a male fetus with congenital malformations and maternal X chromosome pericentric inversion. MATERIALS AND METHODS: A 22-year-old woman underwent amniocentesis at 17 weeks of gestation because of an abnormal maternal serum screening result. Prenatal ultrasound revealed a hypoplastic left heart and short limbs. Amniocentesis revealed a karyotype of 46,Y,der(X) t(X;?)(p22...
October 2016: Taiwanese Journal of Obstetrics & Gynecology
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
Yuval Yaron, Jon Hyett, Sylvie Langlois
No abstract text is available yet for this article.
October 16, 2016: Prenatal Diagnosis
Idalina Luz, Angela Ribas, Lorena Kozlowski, Mariluci Willig, Ana Paula Berberian
Introduction Law 12.303/10 requires hearing screening in newborns before hospital discharge to detect possible hearing problems within the first three months after birth. If the newborn fails the test or presents signs of risk for hearing loss, it must undergo a retest and monitoring during the first year of life. In practice, this often does not happen. Objective To identify, in a group of mothers of children with risk factors for hearing loss, the determining reasons for non-compliance with the auditory retest...
October 2016: International Archives of Otorhinolaryngology
Zehra Ordulu, Tammy Kammin, Harrison Brand, Vamsee Pillalamarri, Claire E Redin, Ryan L Collins, Ian Blumenthal, Carrie Hanscom, Shahrin Pereira, India Bradley, Barbara F Crandall, Pamela Gerrol, Mark A Hayden, Naveed Hussain, Bibi Kanengisser-Pines, Sibel Kantarci, Brynn Levy, Michael J Macera, Fabiola Quintero-Rivera, Erica Spiegel, Blair Stevens, Janet E Ulm, Dorothy Warburton, Louise E Wilkins-Haug, Naomi Yachelevich, James F Gusella, Michael E Talkowski, Cynthia C Morton
In this exciting era of "next-gen cytogenetics," integrating genomic sequencing into the prenatal diagnostic setting is possible within an actionable time frame and can provide precise delineation of balanced chromosomal rearrangements at the nucleotide level. Given the increased risk of congenital abnormalities in newborns with de novo balanced chromosomal rearrangements, comprehensive interpretation of breakpoints could substantially improve prediction of phenotypic outcomes and support perinatal medical care...
October 5, 2016: American Journal of Human Genetics
Marina Vafeiadi, Theano Roumeliotaki, Georgia Chalkiadaki, Panu Rantakokko, Hannu Kiviranta, Eleni Fthenou, Soterios A Kyrtopoulos, Manolis Kogevinas, Leda Chatzi
BACKGROUND: Persistent organic pollutants (POPs) are a group of diverse substances, including polychlorinated biphenyls (PCBs) and organochlorine pesticides that are resistant to biodegradation and ubiquitously present in our environment. Exposure to endocrine disrupting chemicals such as POPs has been linked to type 2 diabetes and metabolic disturbances in epidemiological and animal studies, but little is known about POPs exposure during pregnancy and the development of gestational diabetes mellitus (GDM)...
October 12, 2016: Environment International
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
Brett T Doherty, Stephanie M Engel, Jessie P Buckley, Manori J Silva, Antonia M Calafat, Mary S Wolff
INTRODUCTION: Evidence suggests prenatal phthalate exposures may have neurodevelopmental consequences. Our objective was to investigate prenatal exposure to phthalates and cognitive development in a cohort of young urban children. MATERIALS AND METHODS: We recruited pregnant women in New York City from 1998 to 2002 and measured concentrations of nine phthalate metabolites in urine collected in late pregnancy. We administered a neurodevelopmental screening instrument, the Bayley Scales of Infant Development II (BSID-II), to children who returned for follow-up at approximately 24 months (n=276)...
October 11, 2016: Environmental Research
Moshe Bronshtein, Zeev Blumenfeld, Asaad Choury, Ayala Gover
OBJECTIVES: To assess the natural history and outcome of fetal pulmonary stenosis [PS] detected at 14 to 16 weeks gestation. METHODS: This is a retrospective study, in the years 2004-2015, with serial follow up during pregnancy. Patients referred for complete early fetal ultrasound including all fetal systems and a fetal echocardiogram. Ninety seven percent of the women were low risk, and 3% had risk factors such as maternal type 1 diabetes mellitus, exposure to teratogenic drugs or anomalies in previous pregnancies or in other family members...
October 14, 2016: Ultrasound in Obstetrics & Gynecology
Teresa N Sparks, Mary E Norton, Monica Flessel, Sara Goldman, Robert J Currier
OBJECTIVE: To evaluate the observed incidence of Down syndrome in twins compared with that expected based on maternal age-matched singletons, which is the current clinical approach. METHODS: This was a retrospective review of California Prenatal Screening Program participants with expected delivery dates between July 1995 and December 2012. Cases confirmed prenatally or postnatally with a genetic imbalance leading to phenotypic Down syndrome (trisomy 21, mosaic trisomy 21, or translocations) were included...
October 6, 2016: Obstetrics and Gynecology
Val Catanzarite, Larry Cousins, Sean Daneshmand, Wade Schwendemann, Holly Casele, Joanna Adamczak, Tevy Tith, Ami Patel
OBJECTIVE: To describe outcomes for a large cohort of women with prenatally diagnosed vasa previa, determine the percentage in patients without risk factors, and compare delivery timing and indications for singletons and twins. METHODS: This was a retrospective case series of women with prenatally diagnosed vasa previa delivered at a single tertiary center over 12 years. Potential participants were identified using hospital records and perinatal databases. Patients were included if vasa previa was confirmed at delivery and by pathologic examination...
October 6, 2016: Obstetrics and Gynecology
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
H Hu, H Liu, C Peng, T Deng, X Fu, C Chung, E Zhang, C Lu, K Zhang, Z Liang, Y Yang
OBJECTIVES: To detect trisomy 21, 18, and 13 in 190,277 clinical samples from the medical diagnostic laboratories of ten hospitals. METHODS: The study assessed the clinical performance of non-invasive prenatal testing (NIPT) in detecting trisomy 21, 18, and 13 in 190,277 clinical samples using semiconductor sequencing technology. RESULTS: NIPT participants were at a mean gestation of 17.79 weeks (range, 9-36) and age of 31.12 years (range, 18-46) at the time of testing in average...
October 13, 2016: Current Molecular Medicine
Melissa Borelli, Rebecca J Baer, Christina D Chambers, Tyler C Smith, Laura L Jelliffe-Pawlowski
We examined the association between maternal characteristics, routinely collected first- and second-trimester biomarkers and the risk of having an infant with a critical congenital heart defect (CCHD). Included were women who participated in the California Prenatal Screening Program who had nuchal translucency (NT) measurement and first- and second-trimester serum screening. All pregnancies ended in a live birth of an infant without aneuploidy or a neural tube defect. Poisson regression analyses were used to estimate the relative risk and 95% confidence interval of a CCHD by maternal characteristics, first- and second-trimester serum biomarkers or NT measurements...
October 14, 2016: American Journal of Medical Genetics. Part A
Wanjun Zhu, Xiao-Yan Zhang, Sadie L Marjani, Jialing Zhang, Wengeng Zhang, Shixiu Wu, Xinghua Pan
Single-cell sequencing (SCS) is a fast-growing, exciting field in genomic medicine. It enables the high-resolution study of cellular heterogeneity, and reveals the molecular basis of complicated systems, which facilitates the identification of new biomarkers for diagnosis and for targeting therapies. It also directly promotes the next generation of genomic medicine because of its ultra-high resolution and sensitivity that allows for the non-invasive and early detection of abnormalities, such as aneuploidy, chromosomal translocation, and single-gene disorders...
October 13, 2016: Cellular and Molecular Life Sciences: CMLS
Li-Hong Wu, Hong-Ning Xie, Dario Paladini, Ju Zheng, Liu Du, Mei-Fang Lin
OBJECTIVES: To establish fetal azygos vein and descending aorta sonographic Z score formulas based on femur length and gestational age and to determine the value of azygos vein diameter variation for potential use in the diagnosis of fetal venous malformations related to the azygos vein. METHODS: A total of 452 healthy singleton fetuses and 25 fetuses with venous malformations related to the azygos vein underwent prenatal sonography in this retrospective study. Azygos vein and descending aorta diameters were measured offline after spatiotemporal image correlation volume acquisition...
October 13, 2016: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
Amy C Yang, Louise Bier, Jessica R Overbey, Jessica Cohen-Pfeffer, Khyati Desai, Robert J Desnick, Manisha Balwani
PURPOSE: The overall published experience with pediatric type 1 Gaucher disease (GD1) has been based on ascertainment through clinical presentation of the disease. We describe the longitudinal follow-up in a presymptomatic pediatric cohort. METHODS: The cohort includes children diagnosed with GD1, either prenatally or postnatally by molecular genetic testing, and followed for clinical care at our center from 1998 to 2016. All patients' parents were GBA mutation carriers identified through carrier screening programs...
October 13, 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Jose Maria Bastida Bermeja, Jose Ramon González-Porras, Cristina Jiménez, Rocio Benito, Gonzalo R Ordoñez, Maria Teresa Álvarez-Román, M Elena Fontecha, Kamila Janusz, David Castillo, Rosa María Fisac, Luis Javier García-Frade, Carlos Aguilar, María Paz Martínez, Nuria Bermejo, Sonia Herrero, Ana Balanzategui, Jose Manuel Martin-Antorán, Rafael Ramos, Maria Jose Cebeiro, Emilia Pardal, Carmen Aguilera, Belen Pérez-Gutierrez, Manuel Prieto, Susana Riesco, Maria Carmen Mendoza, Ana Benito, Ana Hortal Benito-Sendin, Víctor Jiménez-Yuste, Jesus Maria Hernández-Rivas, Ramon García-Sanz, Marcos González-Díaz, Maria Eugenia Sarasquete
Currently, molecular diagnosis of haemophilia A and B (HA and HB) highlights the excess risk-inhibitor development associated with specific mutations, and enables carrier testing of female relatives and prenatal or preimplantation genetic diagnosis. Molecular testing for HA also helps distinguish it from von Willebrand disease (VWD). Next-generation sequencing (NGS) allows simultaneous investigation of several complete genes, even though they may span very extensive regions. This study aimed to evaluate the usefulness of a molecular algorithm employing an NGS approach for sequencing the complete F8, F9 and VWF genes...
October 13, 2016: Thrombosis and Haemostasis
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