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Parents are interested in newborn genomic testing during the early postpartum period.

ABSTRACT: PURPOSE:We surveyed parents to ascertain interest in newborn genomic testing and determine whether these queries would provoke refusal of conventional state-mandated newborn screening. METHODS:After a brief genetics orientation, parents rated their interest in receiving genomic testing for their healthy newborn on a 5-point Likert scale and answered questions about demographics and health history. We used logistic regression to explore factors associated with interest in genomic testing and tracked any subsequent rejection of newborn screening. RESULTS:We queried 514 parents within 48 hours after birth while still in hospital (mean age (SD) 32.7 (6.4) years, 65.2% female, 61.2% white, 79.3% married). Parents reported being not at all (6.4%), a little (10.9%), somewhat (36.6%), very (28.0%), or extremely (18.1%) interested in genomic testing for their newborns. None refused state-mandated newborn screening. Married participants and those with health concerns about their infant were less interested in newborn genomic testing (P = 0.012 and P = 0.030, respectively). Degree of interest for mothers and fathers was discordant (at least two categories different) for 24.4% of couples. CONCLUSION:Interest in newborn genomic testing was high among parents of healthy newborns, and the majority of couples had similar levels of interest. Surveying parents about genomic sequencing did not prompt rejection of newborn screening.Genet Med 17 6, 501-504.

SUBMITTER: Waisbren SE

PROVIDER: S-EPMC4452417 | biostudies-literature | 2015 Jun

REPOSITORIES: biostudies-literature

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Parents are interested in newborn genomic testing during the early postpartum period.

Waisbren Susan E SE Bäck Danielle K DK Liu Christina C Kalia Sarah S SS Ringer Steven A SA Holm Ingrid A IA Green Robert C RC

Genetics in medicine : official journal of the American College of Medical Genetics 20141204 6

<h4>Purpose</h4>We surveyed parents to ascertain interest in newborn genomic testing and determine whether these queries would provoke refusal of conventional state-mandated newborn screening.<h4>Methods</h4>After a brief genetics orientation, parents rated their interest in receiving genomic testing for their healthy newborn on a 5-point Likert scale and answered questions about demographics and health history. We used logistic regression to explore factors associated with interest in genomic t ...[more]

PMID: 25474344

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Project description:PurposeTo identify instruments used to measure parents' Quality of Life (QoL) during pregnancy and the postpartum period, and to describe their characteristics and psychometric properties.MethodsFor this scoping review we conducted systematic literature searches in MEDLINE, EMBASE, PsychINFO, CINAHL and HaPI in mid-December 2020, to identify studies evaluating psychometric properties. The COnsensus-based Standards for the selection of health Measurement INstruments (COSMIN) were used to define and categorize psychometric properties. Two reviewers screened the studies independently, and customized screening questions were used to assess eligibility against inclusion criteria. Data were systematically extracted into a predesigned data charting matrix, and descriptively analyzed.ResultsThe searches identified 5671 studies, of which 53 studies met the inclusion criteria. In total, there were 19 QoL instruments: 12 generic and seven period specific. The most reported instruments were SF-36, SF-12 and WHOQOL-BREF, and the most evaluated instruments were SF-12, WHOQOL-BREF, QOL-GRAV, and PQOL. We found that none of the identified instruments had been evaluated for all nine psychometric properties recommended by the COSMIN. The most reported psychometric properties were internal consistency and structural validity. The instruments were primarily assessed in parents residing in Asia (50%), and 83% of the studies were conducted from 2010 to 2020. Only three studies included psychometric measures assessed on fathers.ConclusionOur review shows there is extensive evidence on the internal consistency and structural validity of QoL instruments used on parents during pregnancy and the postpartum period, but that the evidence on other psychometric properties is sparse. Validation studies and primary studies are needed to provide evidence on the reliability, validity, responsiveness, and interpretability of QoL instruments for this target group, in particular for fathers and partners.

Project description:Increased energy demands to support lactation, coupled with lowered feed intake capacity results in negative energy balance (NEB) and is typically characterized by extensive mobilization of body energy reserves in the early postpartum dairy cow. The catabolism of stored lipid leads to an increase in the systemic concentrations of nonesterified fatty acids (NEFA) and -hydroxy butyrate (BHB). Oxidation of NEFA in the liver result in the increased production of reactive oxygen species and the onset of oxidative stress and can lead to disruption of normal metabolism and physiology. The immune system is depressed in the peripartum period and early lactation and dairy cows are therefore more vulnerable to bacterial infections causing mastitis and or endometritis at this time. A bovine Affymetrix oligonucleotide array was used to determine global gene expression in the spleen of dairy cows in the early postpartum period. Spleen tissue was removed post mortem from five severe NEB (SNEB) and five medium NEB (MNEB) cows 15 days postpartum.SNEB increased systemic concentrations of NEFA and BHB, and white blood cell and lymphocyte numbers were decreased in SNEB animals. A total of 545 genes were altered by SNEB. Network analysis using Ingenuity Pathway Analysis revealed that SNEB was associated with NRF2-mediated oxidative stress, mitochondrial dysfunction, endoplasmic reticulum stress, natural killer cell signaling, p53 signaling, downregulation of IL-15, BCL-2, and IFN- ; upregulation of BAX and CHOP and increased apoptosis with a potential negative impact on innate and adaptive immunity. Multiparous Holstein-Friesian cows (n=24) were blocked 2 weeks prior to expected calving date according to parity, body condition score, and previous lactation yield (average lactation 6477M-BM-1354kg) and randomly allocated to mild (MNEB; n=12) or severe (SNEB; n=12) NEB groups. MNEB cows were fed ad lib grass silage and 8 kg day-1 concentrates and milked once daily; SNEB cows were fed 25 kg day-1 silage and 4kg day-1 concentrate and milked three times daily. Measurements of body condition score and EB were used to select cows which showed extremes in EB from each group (MNEB, n=5; SNEB, n=5). Cows were slaughtered on days 6-7 of the first follicular wave after calving (mean number of days post-partum: MNEB mean 13.6 M-BM-1 0.75, range 11M-bM-^@M-^S15; SNEB mean 14.3 M-BM-1 0.56, range 13M-bM-^@M-^S16), based on daily transrectal ultrasonography.At slaughter the entire spleen was removed and weighed, and samples weighing 1 g were dissected, rinsed in RNase-free phosphate buffer, snap frozen in liquid nitrogen, stored for 4 h in dry ice, and subsequently stored at 80M-BM-0C.

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Parents are interested in newborn genomic testing during the early postpartum period.

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Parents are interested in newborn genomic testing during the early postpartum period.

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