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Seminars in Fetal & Neonatal Medicine

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https://www.readbyqxmd.com/read/29305293/beyond-screening-for-chromosomal-abnormalities-advances-in-non-invasive-diagnosis-of-single-gene-disorders-and-fetal-exome-sequencing
#1
REVIEW
Jane Hayward, Lyn S Chitty
Emerging genomic technologies, largely based around next generation sequencing (NGS), are offering new promise for safer prenatal genetic diagnosis. These innovative approaches will improve screening for fetal aneuploidy, allow definitive non-invasive prenatal diagnosis (NIPD) of single gene disorders at an early gestational stage without the need for invasive testing, and improve our ability to detect monogenic disorders as the aetiology of fetal abnormalities. This presents clinicians and scientists with novel challenges as well as opportunities...
January 2, 2018: Seminars in Fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29258838/parental-experiences-after-prenatal-diagnosis-of-fetal-abnormality
#2
Jan Hodgson, Belinda J McClaren
For many pregnant women, prenatal testing is a routine component of contemporary pregnancy care. Receiving a prenatal diagnosis is frequently associated with intense feelings of shock and grief; the extent of which may be unrelated to the pregnancy gestation or the condition diagnosed. During this time of crisis, parents are often faced with important choices about their pregnancy. Levels of understanding and experiences of professional support throughout this time likely impact decisions that are made and how they are subsequently perceived...
December 16, 2017: Seminars in Fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29233624/first-and-second-trimester-screening-for-fetal-structural-anomalies
#3
REVIEW
Lindsay Edwards, Lisa Hui
Fetal structural anomalies are found in up to 3% of all pregnancies and ultrasound-based screening has been an integral part of routine prenatal care for decades. The prenatal detection of fetal anomalies allows for optimal perinatal management, providing expectant parents with opportunities for additional imaging, genetic testing, and the provision of information regarding prognosis and management options. Approximately one-half of all major structural anomalies can now be detected in the first trimester, including acrania/anencephaly, abdominal wall defects, holoprosencephaly and cystic hygromata...
December 9, 2017: Seminars in Fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29229486/screening-for-spontaneous-preterm-birth-and-resultant-therapies-to-reduce-neonatal-morbidity-and-mortality-a-review
#4
REVIEW
Angelica V Glover, Tracy A Manuck
Despite considerable effort aimed at decreasing the incidence of spontaneous preterm birth, it remains the leading cause of perinatal morbidity and mortality. Screening strategies are imperfect. Approaches used to identify women considered by historical factors to be low risk for preterm delivery (generally considered to be women with singleton pregnancies without a history of a previous preterm birth) as well as those at high risk for preterm birth (those with a previous preterm birth, short cervix, or multiple gestation) continue to evolve...
December 9, 2017: Seminars in Fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29233487/genetic-counselling-patient-education-and-informed-decision-making-in-the-genomic-era
#5
REVIEW
Sylvia A Metcalfe
Genomic technologies are now being applied to reproductive genetic screening. Circulating cell-free DNA testing in pregnancy for fetal chromosomal abnormalities is becoming more widely used as a screening test, and expanded carrier screening for autosomal and X-linked recessive conditions for more than a hundred conditions is available to couples for testing before and during pregnancy. These are most typically available as a commercial test. The purpose of reproductive genetic screening is to facilitate autonomous reproductive choices...
December 7, 2017: Seminars in Fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29221766/screening-for-fetal-growth-restriction-and-placental-insufficiency
#6
REVIEW
Melanie C Audette, John C Kingdom
Fetal growth restriction (FGR) continues to be a leading cause of preventable stillbirth and poor neurodevelopmental outcomes in offspring, and furthermore is strongly associated with the obstetrical complications of iatrogenic preterm birth and pre-eclampsia. The terms small for gestational age (SGA) and FGR have, for too long, been considered equivalent and therefore used interchangeably. However, the delivery of improved clinical outcomes requires that clinicians effectively distinguish fetuses that are pathologically growth-restricted from those that are constitutively small...
December 5, 2017: Seminars in Fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29221765/advances-in-fetal-echocardiography
#7
REVIEW
Helena M Gardiner
The development of fetal echocardiography and success in prenatal cardiac screening programs over the past 30 years has been driven by technical innovation and influenced by the different approaches of the various specialties practicing it. Screening for congenital heart defects no longer focuses on examining a limited number of pregnant women thought to be at increased risk, but instead forms an integrated part of a high-quality anatomical ultrasound performed in the second trimester using the 'five-transverse view' protocol...
December 5, 2017: Seminars in Fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29169875/current-and-future-antenatal-management-of-isolated-congenital-diaphragmatic-hernia
#8
REVIEW
Francesca Maria Russo, Paolo De Coppi, Karel Allegaert, Jaan Toelen, Lennart van der Veeken, George Attilakos, Mary Patrice Eastwood, Anna Louise David, Jan Deprest
Congenital diaphragmatic hernia is surgically correctable, yet the poor lung development determines mortality and morbidity. In isolated cases the outcome may be predicted prenatally by medical imaging. Cases with a poor prognosis could be treated before birth. However, prenatal modulation of lung development remains experimental. Fetoscopic endoluminal tracheal occlusion triggers lung growth and is currently being evaluated in a global clinical trial. Prenatal transplacental sildenafil administration may in due course be a therapeutic approach, reducing the occurrence of persistent pulmonary hypertension, either alone or in combination with fetal surgery...
November 21, 2017: Seminars in Fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29158089/opportunities-and-difficulties-for-counseling-at-the-margins-of-viability
#9
REVIEW
Patrick Myers, Bree Andrews, William Meadow
At the margins of viability, the interaction between physicians and families presents challenges but also opportunities for success. The counseling team often focuses on data: morbidity and mortality statistics and the course of a typical infant in the neonatal intensive care unit. Data that are generated on the population level can be difficult to align with the multiple facets of an individual infant's trajectory. It is also information that can be difficult to present because of framing biases and the complexities of intuiting statistical information on a personal level...
November 17, 2017: Seminars in Fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29146213/contemporary-and-diverse-approaches-to-perinatal-ethics
#10
EDITORIAL
Naomi Laventhal, William Meadow
No abstract text is available yet for this article.
November 13, 2017: Seminars in Fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29128491/screening-for-fetal-chromosomal-and-subchromosomal-disorders
#11
REVIEW
Sarah Harris, Dallas Reed, Neeta L Vora
Screening for fetal chromosomal disorders has evolved greatly over the last four decades. Initially, only maternal age-related risks of aneuploidy were provided to patients. This was followed by screening with maternal serum analytes and ultrasound markers, followed by the introduction and rapid uptake of maternal plasma cell-free DNA-based screening. Studies continue to demonstrate that cfDNA screening for common aneuploidies has impressive detection rates with low false-positive rates. The technology continues to push the boundaries of prenatal screening as it is now possible to screen for less common aneuploidies and subchromosomal disorders...
November 8, 2017: Seminars in Fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29122542/twin-twin-transfusion-syndrome-what-we-have-learned-from-clinical-trials
#12
REVIEW
Fatiha Djaafri, Julien Stirnemann, Imen Mediouni, Claire Colmant, Yves Ville
Monochorionic twin pregnancies are at increased risk for adverse outcome compared to dichorionic twin pregnancies and singletons. Monochorionic-specific complications include twin-twin transfusion syndrome (TTTS), twin anemia-polycythemia sequence, single intrauterine fetal demise and its consequences on the co-twin, and selective intrauterine growth restriction. Whereas the natural history of monochorionic-specific complications carries a high risk of fetal death or severe neurologic disability, a framework now exists, based on well-designed clinical trials, for optimal treatment of these entities...
November 6, 2017: Seminars in Fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29103877/ethical-considerations-in-the-care-of-complicated-twin-pregnancies
#13
Naomi T Laventhal, Marjorie C Treadwell
Twin gestations are increasing in prevalence worldwide, and are potentially subject to medical complications which present uniquely complex ethical and psychosocial challenges for the pregnant patient and obstetrician to navigate. In this article, we explore these issues as they relate to medical decision-making in cases of discordant growth and discordant anomalies in both monochorionic and dichorionic twin pregnancies, including those affected by twin-twin transfusion syndrome, with particular attention to scenarios in which the individual fetuses hold competing interests...
November 2, 2017: Seminars in Fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29100870/rationing-potentially-inappropriate-treatment-in-newborn-intensive-care-in-developed-countries
#14
REVIEW
Dominic Wilkinson, Stavros Petrou, Julian Savulescu
In newborn intensive care, parents sometimes request treatment that professionals regard as 'futile' or 'potentially inappropriate'. One reason not to provide potentially inappropriate treatment is because it would be excessively costly relative to its benefit. Some public health systems around the world assess the cost-effectiveness of treatments and selectively fund those treatments that fall within a set threshold. This article explores the application of such thresholds to questions in newborn intensive care: (i) when a newborn infant's chance of survival is too small; (ii) how long treatment should continue; (iii) when quality of life is too low; and (iv) when newborn infants are too premature for cost-effective intensive care...
October 31, 2017: Seminars in Fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29097071/neonatal-research-ethics-after-support
#15
REVIEW
John D Lantos
The SUPPORT study (Study to Understand Prognoses and Preferences for Outcomes and Risks of Treatments), sponsored by the Eunice Kennedy Shriver National Institute of Child Health and Human Development to evaluate different oxygen saturation targets for extremely premature babies, led to a national controversy that was surprisingly public, intense, and polarizing. This article describes the study design, the study outcomes, and the key issues. I conclude that the controversy was based on two different views of the clinical investigator...
October 30, 2017: Seminars in Fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29111298/improving-neonatal-care-with-the-help-of-veteran-resource-parents-an-overview-of-current-practices
#16
Claude Julie Bourque, Sonia Dahan, Ginette Mantha, Kate Robson, Martin Reichherzer, Annie Janvier
Over the past decade, veteran parents who have lived a neonatal intensive care unit (NICU) experience have become increasingly involved as 'resource parents' to provide peer-to-peer support to "new" NICU parents. These parents can provide a unique form of support to new parents. They can also assume other roles in clinical care, research, administration and/or teaching, but those roles are rarely described in the literature. This article reviews many of the activities performed by resource parents in neonatology...
October 27, 2017: Seminars in Fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29066179/ethical-implications-of-the-use-of-decision-aids-for-antenatal-counseling-at-the-limits-of-gestational-viability
#17
REVIEW
Ursula Guillen, Haresh Kirpalani
Shared decision-making is a recent priority in neonatology. However, its implementation is at an early stage. Decision aids are tools designed to assist in shared decision-making. They help patients competently participate in making healthcare decisions. There are limited studies in neonatology on the formal use of decision aids as used in adult medicine. Decision aids are relatively new, even in adult medicine where they were pioneered; therefore, there is a lack of systematic oversight to their development and use...
October 21, 2017: Seminars in Fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29031539/fetal-surgery-for-myelomeningocele-after-the-management-of-myelomeningocele-study-moms
#18
REVIEW
Julie S Moldenhauer, N Scott Adzick
Myelomeningocele (MMC) is the most frequently occurring congenital abnormality of the central nervous system and leads to significant physical disabilities. Historically treatment involved postnatal closure with management of the associated sequelae including ventricular shunting. The mechanism of neurologic damage that begins with abnormal neurulation followed by continued injury over the course of gestation made MMC a plausible candidate for in-utero surgical repair. Animal and early human studies demonstrated the feasibility of fetal closure...
December 2017: Seminars in Fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28867155/the-boundaries-of-fetal-cardiac-intervention-expand-or-tighten
#19
REVIEW
Laura Gellis, Wayne Tworetzky
Fetal cardiac intervention (FCI) is a relatively new and continually evolving field, and, for select cardiac defects, offers the potential to alter the progression of the disease and improve outcomes. It is a procedure that requires a collaborative effort between maternal-fetal medicine, interventional cardiology and fetal echo/ultrasound specialists, as well as fetal and maternal anesthesiologists, nursing specialists, and social workers. This article reviews the most recently reported data and advances in FCI...
December 2017: Seminars in Fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28532678/selective-intrauterine-growth-restriction-in-monochorionic-diamniotic-twin-pregnancies
#20
REVIEW
Mar Bennasar, Elisenda Eixarch, Josep Maria Martinez, Eduard Gratacós
Selective intrauterine growth restriction (sIUGR) affects 10-15% of all monochorionic pregnancies. Early severe forms are associated with intrauterine demise or neurological adverse outcome for both twins. The characteristics of umbilical artery (UA) Doppler in the IUGR fetus determine three clinical types: (I) normal UA Doppler and associated with good prognosis; (II) persistently absent/reverse UA end-diastolic flow and associated with early deterioration of the IUGR twin and very preterm delivery; (III) intermittently absent/reverse end-diastolic flow in the UA, and associated with unexpected fetal demise or neurological injury in one or both twins...
December 2017: Seminars in Fetal & Neonatal Medicine
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