... abnormalities (PFAs).This study involved cases of PFAs that were identified by prenatal ultrasonographic screening and confirmed postnatally between January 2012 and January 2016... 22.9%).The combined use of CMA and karyotype analysis might assist the prenataldiagnosis and management of PFAs, with extra-CNS structural abnormalities being detected by ...
Chromosome Aberrations (2), Dandy-Walker Syndrome (1), Cysts (1), more mentions
... site hospitals and private practices.Thirteen women harboring THRB gene mutations were evaluated during 18 pregnancies.Prenatal genetic diagnosis by amniocentesis... and in serum TSH levels at birth between WT and RTHβ infants born to RTHβ mothers.Prenataldiagnosis may play an important role in the management of RTHβ during pregnancy.
to analyze the efficiency of prenataldiagnosis of Pierre Robin sequence (PRS) regarding the final specific diagnosis ... of all prenatal cases of suspected PRS managed in our prenataldiagnosis center during the last 15 years; analysis of the consistency ... severe phenotypes than the 227 children without prenatally suspected PRS.Antenataldiagnosis of isolated PRS is a challenge as other features can ...
Facial femoral syndrome (FFS) is a rare congenital abnormality, also known as femoral hypoplasia-unusual facies syndrome, characterized by variable degrees of femoral hypoplasia, associated with specific facial features. Other organ malformations are sometimes present. Most cases are sporadic, but rare family observations suggest genetic origin. However, no chromosomal or genetic abnormalities have ever been incriminated. We conducted a comprehensive literature review and added three new unreported observations. Through these 92 cases, authors aimed to determine sonographic signs that should direct towards diagnosis, and discuss potential genetic etiology. Diagnosis was suspected prenatally in 27.2% of cases, and maternal diabetes was found in 42.4% of patients. When fetal karyotype was available, it was normal in 97.1% of cases, but genomic variations of unknown significance were discovered in all three cases in which array comparative genomic hybridization (CGH) techniques were applied. Femoral affection defining FFS was hypoplasia in 78.3% of cases, agenesis in 12%, and both in 9.8%. Affection was bilateral in 84.8% of cases. Retrognathia was present in 65.2% of cases, cleft lip and/or palate in 63%, and other organ malformations in 53.3%. Intellectual development was normal in 79.2% of cases. Better prenatal recognition of this pathology, notably frequently associated malformations, should lead to a more precise estimation of functional prognosis. It seems likely that today's tendency to systematically employ array-CGH and exome/genome sequencing methods to investigate malformative sequences will allow the identification of a causal genetic abnormality in the near future.
After expansion of access to prenatalcare, there was an increase in prenatal visits (7.2 more visits, 95% CI 6.45-7.96), receipt of adequate prenatalcare (28% increased rate, CI 26-31), rates of diabetes screening ... Maternal access to prenatalcare was also associated with an increased number of well child ...
Here we discuss about arguments that led our team to accept prenatal testing. To the best of our knowledge, no molecular prenataldiagnosis was reported until now in RASA1-related diseases. This first report of prenataldiagnosis in RASA1-related diseases may also offer perspectives for a more general discussion in the field of inherited arteriovenous malformations.
BACKGROUND: Participation in the UK Newborn Bloodspot Screening Programme (NBSP) requires parental consent but concerns exist about whether or not this happens in practice and the best methods and timing to obtain consent at reasonable cost.
OBJECTIVES: To collate all possible modes of prescreening communication and consent for newborn (neonatal) screening (NBS); examine midwives', screening professionals' and users' views about the feasibility, efficiency and impact on understanding of each; measure midwives' and parents' preferences for information provision; and identify key drivers of cost-effectiveness for alternative modes of information provision.
DESIGN: Six study designs were used: (1) realist review - to generate alternative communication and consent models; (2) qualitative interviews with parents and health professionals - to examine the implications of current practice for understanding and views on alternative models; (3) survey and observation of midwives - to establish current costs; (4) stated preference surveys with midwives, parents and potential future parents - to establish preferences for information provision; (5) economic analysis - to identify cost-effectiveness drivers of alternative models; and (6) stakeholder validation focus groups and interviews - to examine the acceptability, views and broader impact of alternative communication and consent models.
SETTING: Providers and users of NBS in England.
PARTICIPANTS: Study 2: 45 parents and 37 health professionals; study 3: 22 midwives and eight observations; study 4: 705 adults aged 18-45 years and 134 midwives; and study 6: 12 health-care professionals and five parents.
RESULTS: The realist review identified low parental knowledge and evidence of coercive consent practices. Interview, focus group and stated preference data suggested a preference for full information, with some valuing this more than choice. Health professionals preferred informed choice models but parents and health professionals queried whether or not current consent was fully informed. Barriers to using leaflets effectively were highlighted. All studies indicated that a 'personalised' approach to NBS communication, allowing parents to select the mode and level of information suited to their learning needs, could have added value. A personalised approach should rely on midwife communication and should occur in the third trimester. Overall awareness was identified as requiring improvement. Starting NBS communication by alerting parents that they have a choice to make and telling them that samples could be stored are both likely to enhance engagement. The methods of information provision and maternal anxiety causing additional visits to health-care professionals were the drivers of relative cost-effectiveness. Lack of data to populate an economic analysis, confirmed by value of information analysis, indicated a need for further research.
LIMITATIONS: There are some limitations with regard to the range of participants used in studies 2 and 3 and so caution should be exercised when interpreting some of the results.
CONCLUSIONS: This project highlighted the importance of focusing on information receipt and identified key communication barriers. Health professionals strongly preferred informed consent, which parents endorsed if they were made aware of sample storage. Uniform models of information provision were perceived as ineffective. A choice of information provision was supported by health professionals and parents, which both enhances cost-effectiveness and improves engagement, understanding and the validity of consent. Remaining uncertainties suggest that more research is needed before new communication modes are introduced into practice. Future research should measure the impact of the suggested practice changes (informing in third trimester, information toolkits, changed role of midwife).
TRIAL REGISTRATION: Current Controlled Trials ISRCTN70227207.
FUNDING: This project was funded by the NIHR Health Technology Assessment programme and will be published in full in Health Technology Assessment; Vol. 21, No. 55. See the NIHR Journals Library website for further project information.
Non-invasive prenatalscreening (NIPS) has revolutionized the approach to prenatal fetal aneuploidy screening. Many commercial providers now offer analyses for sub-chromosomal copy number variations (CNVs. Here, we review the use of NIPS in the context of screening for microdeletions and microduplications, issues surrounding the choice of disorders tested for, and the advantages and disadvantages associated with the inclusion ...
... making it mainstream', whereby the different 'philosophical beliefs' held by participants were seen to influence perspectives AbstractText: Participants expressed an overall positive attitude towards the possible inclusion of acupuncture into mainstream care for antenatal depression, suggesting various hospital barriers could be overcome with further safety and effectiveness evidence Keyword: Acupuncture.
... a singleton pregnancy experiencing low back and / or pelvic girdle pain AbstractText: six weekly 30-minute reflexology treatments compared to sham (footbath) treatments or usual antenatalcare only AbstractText: labour outcome data including labour onset, duration of the second stage of labour, epidural and Entonox usage, and mode of delivery.
Women who received telephone contact from a provider triggered by an MTA app alert were significantly more likely to receive a mental health specialist referral AbstractText: A mobile MTA app improved service delivery and patient engagement among patients with perinatal depression symptoms Keyword: mobile application. Keyword: obstetrics. Keyword: perinatal depression. Keyword: prenatalcare. Keyword: smartphone application.
To evaluate whether an intensive, medically supervised exercise intervention improved maternal glycemia and gestational weight gain in obese pregnant women when compared with routine prenatalcare.This randomized controlled trial compared a medically supervised exercise intervention with routine prenatalcare... All women received routine prenatalcare. Power calculation determined that 24 women were required per group to detect a difference ...
Anti-Obesity and Weight Loss (4), Endocrine Disorders (1) Gestational Diabetes (1), more mentions
When reported, 80-90% had not used contraception. In all, 85% of pregnancies from trial/observational studies ended in termination, miscarriage or ectopicpregnancy. Pregnancies that continued (case report and non-case report sources) had high rates of preterm delivery, caesarean delivery, caesarean hysterectomy, and morbidly adherent placenta. Case reports also frequently described preterm premature rupture of membranes, intrauterine growth ...
Women's Health (2) Uterine Rupture (1), Spontaneous Abortion (1), Ectopic Pregnancy (1), more mentions
... the iodine group and 28 in the placebo group reported adverse events (iodine group: abortion, n=20; blightedovum, and n=2; intrauterine death, n=2; placebo group: abortion, n=22; blightedovum, n=1; intrauterine death, n=2; early neonatal death, n=1; and neonatal death, n=2) AbstractText ...
... many health professionals are reluctant to provide medical abortion if the pregnancy has not been confirmed by ultrasound to be inside the uterus. The major concern is the fear of missing an ectopicpregnancy but also the possibility of reduced efficacy of medical TOP (Goldstone P et al Contraception 2013;87(6):855-8. This article is protected by copyright.
... who did not discuss FP in PNC (Prevalence Ratio (PR) for PNC alone: 1.35 (95% Confidence Interval [CI]:1.16-1.58; PR for PNC and antenatalcare [ANC]:1.42, 95% CI: 1.21-1.67; p=.001 for both) AbstractText: Two-thirds of postpartum women with a need for FP used effective contraception ...
Provision of antenatalcare increased from 10% of women in 2000 to 32% of women in 2014, but only 15% of women delivered with a skilled birth attendant by 2014. A large upturn occurred after 2005, bolstered by a rapid increase in health funding that facilitated the accelerated expansion of health infrastructure and workforce through an innovative community-based delivery ...
No significant differences in pregnancy outcome were found between women with obstructive and non-obstructive HCM. NYHA functional class of ≥II and signs of HF before pregnancy, were associated with MACE.Although most women with HCM tolerated pregnancy well, cardiovascular complications were not uncommon and predicted by pre-pregnancy status facilitating pre-pregnancy counselling and targeted antenatalcare.