Opportunities to enhance parental well-being during prenatal counseling for congenital heart disease
TA Tacy, NA Kasparian, R Karnik, M Geiger… - Seminars in …, 2022 - Elsevier
Prenatal diagnosis of congenital heart disease (CHD) can be a life-altering and traumatic
event for expectant parents. Parental anxiety, depression, and traumatic stress are common …
event for expectant parents. Parental anxiety, depression, and traumatic stress are common …
First and second trimester ultrasound in pregnancy: A systematic review and metasynthesis of the views and experiences of pregnant women, partners, and health …
G Moncrieff, K Finlayson, S Cordey, R McCrimmon… - PLoS …, 2021 - journals.plos.org
Background The World Health Organization (WHO) recommends one ultrasound scan
before 24 weeks gestation as part of routine antenatal care (WHO 2016). We explored …
before 24 weeks gestation as part of routine antenatal care (WHO 2016). We explored …
How to deal with uncertainty in prenatal genomics: A systematic review of guidelines and policies
JE Klapwijk, MI Srebniak, ATJI Go… - Clinical …, 2021 - Wiley Online Library
Exome sequencing (ES) enhanced the diagnostic yield of genetic testing, but has also
increased the possibility of uncertain findings. Prenatal ES is increasingly being offered after …
increased the possibility of uncertain findings. Prenatal ES is increasingly being offered after …
Factors that impact on women's decision‐making around prenatal genomic tests: An international discrete choice survey
Objective We conducted a survey‐based discrete‐choice experiment (DCE) to understand
the test features that drive women's preferences for prenatal genomic testing, and explore …
the test features that drive women's preferences for prenatal genomic testing, and explore …
Using MRI-derived observed-to-expected total fetal lung volume to predict lethality in fetal skeletal dysplasia
AR Mehollin-Ray, S Stover, CI Cassady, B Zhang… - Pediatric …, 2024 - Springer
Background Pulmonary hypoplasia is the primary cause of perinatal death in lethal skeletal
dysplasias. The antenatal ultrasound correlates for lethality are indirect, measuring the …
dysplasias. The antenatal ultrasound correlates for lethality are indirect, measuring the …
'Something that helped the whole picture': Experiences of parents offered rapid prenatal exome sequencing in routine clinical care in the English National Health …
H McInnes‐Dean, R Mellis, M Daniel… - Prenatal …, 2024 - Wiley Online Library
Abstract Objectives In October 2020, rapid prenatal exome sequencing (pES) was
introduced into routine National Health Service (NHS) care in England. This study aimed to …
introduced into routine National Health Service (NHS) care in England. This study aimed to …
Decision‐making and future pregnancies after a positive fetal anomaly screen: A scoping review
S Shorey, J Lalor, TLB Pereira… - Journal of clinical …, 2023 - Wiley Online Library
Abstract Aims and Objectives To examine and consolidate literature on the experiences and
decision‐making of parents following a screen positive result for a potential fetal anomaly …
decision‐making of parents following a screen positive result for a potential fetal anomaly …
Clinical geneticists' views on and experiences with unsolicited findings in next‐generation sequencing:“A great technology creating new dilemmas”
V van der Schoot, C Damsté… - Journal of Genetic …, 2023 - Wiley Online Library
Unsolicited findings (UFs) from diagnostic genetic testing are a subject of debate. The
emerging consensus is that some UFs from genetic testing should be disclosed, but …
emerging consensus is that some UFs from genetic testing should be disclosed, but …
Assessing women's preferences towards tests that may reveal uncertain results from prenatal genomic testing: Development of attributes for a discrete choice …
J Hammond, JE Klapwijk, S Riedijk, S Lou… - PLoS …, 2022 - journals.plos.org
Prenatal DNA tests, such as chromosomal microarray analysis or exome sequencing,
increase the likelihood of receiving a diagnosis when fetal structural anomalies are …
increase the likelihood of receiving a diagnosis when fetal structural anomalies are …
Challenges and Pragmatic Solutions in Pre-Test and Post-Test Genetic Counseling for Prenatal Exome Sequencing
KEM Diderich, JE Klapwijk… - The Application of …, 2023 - Taylor & Francis
The yield of genetic prenatal diagnosis has been notably improved by introducing whole
genome chromosomal microarray (CMA) and prenatal exome sequencing (pES). However …
genome chromosomal microarray (CMA) and prenatal exome sequencing (pES). However …