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"Prenatal Screening"

Stina Lou, Camilla P Nielsen, Lone Hvidman, Olav B Petersen, Mette B Risør
BACKGROUND: It is well documented that pregnant women experience increased worry and uncertainty following a high-risk prenatal screening result. While waiting for diagnostic results this worry continues to linger. It has been suggested that high-risk women put the pregnancy mentally 'on hold' during this period, however, not enough is known about how high-risk women and their partners cope while waiting for diagnostic results. The aim of this study was to identify the strategies employed to cope with worry and uncertainty...
October 21, 2016: BMC Pregnancy and Childbirth
Sabrina S Plitt, Mariam Osman, Vanita Sahni, Bonita E Lee, Carmen Charlton, Kimberley Simmonds
OBJECTIVES: In 2009, due to increasing congenital syphilis rates, prenatal syphilis tests (PST) at both mid-gestation and delivery were added to first trimester prenatal screening in the province of Alberta. We sought to determine the proportion of mothers who had all three recommended PSTs during this period and to identify factors associated with incomplete PST. METHODS: A cohort of all pregnancies resulting in a live or stillborn infant in Alberta for 2010 and 2011 was developed from Vital Statistics and linked with prenatal screening data to determine the number and timing of PSTs for pregnant women...
October 20, 2016: Canadian Journal of Public Health. Revue Canadienne de Santé Publique
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
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
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
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
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
Lisa Hui, Diana W Bianchi
Noninvasive prenatal DNA testing is the vanguard of genomic medicine. In only four years, this screening test has revolutionized prenatal care globally and opened up new prospects for personalized medicine for the fetus. There are widespread implications for increasing the scope of human genetic variation that can be detected before birth, and for discovering more about materno-fetal and placental biology. These include an urgent need to develop pretest education for all pregnant women and consistent posttest management recommendations for those with discordant test results...
October 10, 2016: Annual Review of Medicine
C N Mnyani, E Nicolaou, S Bister
BACKGROUND: Concerns have been raised about the injudicious use of non-invasive prenatal testing (NIPT) using cell-free DNA (cfDNA), which often leads to inaccuracies in interpretation of the role and value of cfDNA in prenatal screening. OBJECTIVES:  To determine the value and role of NIPT in a select South African (SA) population. METHODS:  A retrospective review of patients who elected to have NIPT between 1 October 2013 and 30 June 2015 at the Morningside Mediclinic Maternal and Fetal Medicine Centre in Johannesburg, SA...
September 9, 2016: South African Medical Journal, Suid-Afrikaanse Tydskrif Vir Geneeskunde
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
H G Zhang, X Y Zhang, H Y Zhang, T Tian, S B Xu, R Z Liu
Balanced translocation is a common structural chromosomal rearrangement in humans. Carriers can be phenotypically normal but have an increased risk of pregnancy loss, fetal death, and the transmission of chromosomal abnormalities to their offspring. Existing prenatal screening technologies and diagnostic procedures fail to detect balanced translocation, so genetic counseling for carriers remains a challenge. Here, we report the characteristics of chromosomal reciprocal translocation in 3807 amniocentesis cases...
August 19, 2016: Genetics and Molecular Research: GMR
Frederic F Depreux, Lingyan Wang, Han Jiang, Francine M Jodelka, Robert F Rosencrans, Frank Rigo, Jennifer J Lentz, John V Brigande, Michelle L Hastings
Congenital diseases account for a large portion of pediatric illness. Prenatal screening and diagnosis permit early detection of many genetic diseases. Fetal therapeutic strategies to manage disease processes in utero represent a powerful new approach for clinical care. A safe and effective fetal pharmacotherapy designed to modulate gene expression ideally would avoid direct mechanical engagement of the fetus and present an external reservoir of drug. The amniotic cavity surrounding the fetus could serve as an ideal drug reservoir...
September 28, 2016: Nucleic Acids Research
Shari E Gelber, Amos Grünebaum, Frank A Chervenak
BACKGROUND: Due to the recent outbreak of Zika virus, there has been a newfound interest in fetal and neonatal microcephaly. In 1984, Chervenak et al. proposed criteria for the prenatal ultrasound diagnosis of microcephaly as ≤3 standard deviations (SD) from the mean. Despite improvements in medicine these criteria have not been reevaluated in 30 years. OBJECTIVE: To examine how the original 1984 Chervenak et al. criteria for the diagnosis of fetal microcephaly apply to a current population utilizing modern ultrasound equipment and techniques...
September 23, 2016: Journal of Perinatal Medicine
Anupama Nair, S Radhakrishnan
OBJECTIVE: To determine the referral pattern for fetal echocardiography (FE) at our tertiary referral center for pediatric cardiac care in northern India. We also aimed to determine the incidence of CHD in each group and intend to highlight the need of identifying the various risk factors and appropriate timely referral of patients for detailed evaluation. METHODS: This is a prospective study including 201 consecutive patients referred for fetal echo to our center...
October 2016: Journal of Obstetrics and Gynaecology of India
Alexandra Martin-Onraët, Patricia Volkow-Fernández, Victoria Alvarez-Wyssmann, Andrea González-Rodríguez, Jesús Casillas-Rodríguez, Lesvia Rivera-Abarca, Indiana Torres-Escobar, Juan Sierra-Madero
Late diagnosis of HIV remains a public health issue in Mexico. Most national programs target high-risk groups, not including women. More data on factors associated with late diagnosis and access to care in women are needed. In 2012-2013, Mexican women recently diagnosed with HIV were interviewed. Socio-cultural background, household-dynamics and clinical data were collected. Of 301 women, 49 % had <200 CD4 cells/mm(3), 8 % were illiterate, 31 % had only primary school. Physical/sexual violence was reported by 47/30 %; 75 % acquired HIV from their stable partners...
September 20, 2016: AIDS and Behavior
Tianjiao Chu, Suveyda Yeniterzi, Svetlana A Yatsenko, Mary Dunkel, Patricia A Shaw, Kimberly D Bunce, David G Peters
[This corrects the article DOI: 10.1371/journal.pone.0153182.].
2016: PloS One
Mona Wassef, Doaa Ghaith, Rana M A Abdella, Mohamed Kamel
BACKGROUND: Prenatal screening for group B Streptococcus (GBS) colonization can reduce the incidence of neonatal GBS infections. We aimed to improve the screening-based approach of GBS in a limited resources antenatal care clinic by using Strep B Granada™ Biphasic Broth. METHODS: This study included 80 pregnant women between 35 and 37 weeks of gestation, who attended the antenatal care clinic of Kasr El-Aini University Hospital from November 2013 to January 2014...
October 3, 2016: Journal of Maternal-fetal & Neonatal Medicine
Amina Kurtovic-Kozaric, Lejla Mehinovic, Radmila Malesevic, Semir Mesanovic, Tijana Jaros, Meliha Stomornjak-Vukadin, Mirela Mackic-Djurovic, Slavica Ibrulj, Ilvana Kurtovic-Basic, Mirza Kozaric
OBJECTIVE: This study examines trends in total and live birth prevalence of trisomy 21 (T21) with regard to increasing maternal age and the introduction of prenatal diagnosis in Bosnia and Herzegovina. METHOD: The prenatal detection was introduced in January 2008 in 3 hospitals and assessed until December 31, 2015. In this study, 99 fetuses and 330 babies were diagnosed with T21 in the studied period. RESULTS: On average, each year 33 T21 individuals were born and 13 T21 fetuses were diagnosed prenatally...
September 12, 2016: European Journal of Obstetrics, Gynecology, and Reproductive Biology
R Douglas Wilson, Isabelle De Bie, Christine M Armour, Richard N Brown, Carla Campagnolo, June C Carroll, Nan Okun, Tanya Nelson, Rhonda Zwingerman, Francois Audibert, Jo-Ann Brock, Richard N Brown, Carla Campagnolo, June C Carroll, Isabelle De Bie, Jo-Ann Johnson, Nan Okun, Melanie Pastruck, Karine Vallée-Pouliot, R Douglas Wilson, Rhonda Zwingerman, Christine Armour, David Chitayat, Isabelle De Bie, Sara Fernandez, Raymond Kim, Josee Lavoie, Norma Leonard, Tanya Nelson, Sherry Taylor, Margot Van Allen, Clara Van Karnebeek
OBJECTIVE: This guideline was written to update Canadian maternity care and reproductive healthcare providers on pre- and postconceptional reproductive carrier screening for women or couples who may be at risk of being carriers for autosomal recessive (AR), autosomal dominant (AD), or X-linked (XL) conditions, with risk of transmission to the fetus. Four previous SOGC- Canadian College of Medical Geneticists (CCMG) guidelines are updated and merged into the current document. INTENDED USERS: All maternity care (most responsible health provider [MRHP]) and paediatric providers; maternity nursing; nurse practitioner; provincial maternity care administrator; medical student; and postgraduate resident year 1-7...
August 2016: Journal of Obstetrics and Gynaecology Canada: JOGC, Journal D'obstétrique et Gynécologie du Canada: JOGC
Kim M J Verdurmen, Noortje B Eijsvoogel, Carlijn Lempersz, Rik Vullings, Christian Schroer, Judith O E H van Laar, S Guid Oei
BACKGROUND: Congenital heart disease (CHD) is the most common severe congenital anomaly worldwide. Diagnosis early in pregnancy is important, but the detection rate by two-dimensional ultrasonography is only 65%-81%. OBJECTIVES: To evaluate existing data on CHD and noninvasive abdominal fetal electrocardiography (ECG). SEARCH STRATEGY: A systematic review was performed through a search of the Cochrane Library, PubMed, and Embase for studies published up to April 2016 using the terms "congenital heart disease," "fetal electrocardiogram," and other similar keywords...
November 2016: International Journal of Gynaecology and Obstetrics
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