| 1. |
|
|
| 2. |
|
|
| 3. |
- Buchanan, James, et al.
(författare)
-
Factor's that impact on women's decision-making around prenatal genomic tests : An international discrete choice survey
- 2022
-
Ingår i: Prenatal Diagnosis. - : John Wiley & Sons. - 0197-3851 .- 1097-0223. ; 42:7, s. 934-946
-
Tidskriftsartikel (refereegranskat)abstract
- 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 variation across countries. Methods Five test attributes were identified as being important for decision-making through a literature review, qualitative interviews and quantitative scoring exercise. Twelve scenarios were constructed in which respondents choose between two invasive tests or no test. Women from eight countries who delivered a baby in the previous 24 months completed a DCE presenting these scenarios. Choices were modeled using conditional logit regression analysis. Results Surveys from 1239 women (Australia: n = 178; China: n = 179; Denmark: n = 88; Netherlands: n = 177; Singapore: n = 90; Sweden: n = 178; UK: n = 174; USA: n = 175) were analyzed. The key attribute affecting preferences was a test with the highest diagnostic yield (p < 0.01). Women preferred tests with short turnaround times (p < 0.01), and tests reporting variants of uncertain significance (VUS; p < 0.01) and secondary findings (SFs; p < 0.01). Several country-specific differences were identified, including time to get a result, who explains the result, and the return of VUS and SFs. Conclusion Most women want maximum information from prenatal genomic tests, but our findings highlight country-based differences. Global consensus on how to return uncertain results is not necessarily realistic or desirable.
|
|
| 4. |
|
|
| 5. |
|
|
| 6. |
- Burger, Nicole B., et al.
(författare)
-
Involvement of neurons and retinoic acid in lymphatic development: new insights in increased nuchal translucency
- 2014
-
Ingår i: Prenatal Diagnosis. - : Wiley. - 1097-0223 .- 0197-3851. ; 34:13, s. 1312-1319
-
Tidskriftsartikel (refereegranskat)abstract
- ObjectiveIncreased nuchal translucency originates from disturbed lymphatic development. Abnormal neural crest cell (NCC) migration may be involved in lymphatic development. Because both neuronal and lymphatic development share retinoic acid (RA) as a common factor, this study investigated the involvement of NCCs and RA in specific steps in lymphatic endothelial cell (LEC) differentiation and nuchal edema, which is the morphological equivalent of increased nuchal translucency. MethodsMouse embryos in which all NCCs were fluorescently labeled (Wnt1-Cre;Rosa26(eYfp)), reporter embryos for in vivo RA activity (DR5-luciferase) and embryos with absent (Raldh2(-/-)) or in utero inhibition of RA signaling (BMS493) were investigated. Immunofluorescence using markers for blood vessels, lymphatic endothelium and neurons was applied. Flow cytometry was performed to measure specific LEC populations. ResultsCranial nerves were consistently close to the jugular lymph sac (JLS), in which NCCs were identified. In the absence of RA synthesis, enlarged JLS and nuchal edema were observed. Inhibiting RA signaling in utero resulted in a significantly higher amount of precursor-LECs at the expense of mature LECs and caused nuchal edema. ConclusionsNeural crest cells are involved in lymphatic development. RA is required for differentiation into mature LECs. Blocking RA signaling in mouse embryos results in abnormal lymphatic development and nuchal edema. (c) 2014 John Wiley & Sons, Ltd.
|
|
| 7. |
- Carlsson, Tommy, et al.
(författare)
-
Experiences of Informational Needs and Received Information Following a Prenatal Diagnosis of Congenital Heart Defect
- 2016
-
Ingår i: Prenatal Diagnosis. - : Wiley. - 0197-3851 .- 1097-0223. ; 36:6, s. 515-522
-
Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVE: To explore the need for information and what information was actually received following a prenatal diagnosis of a congenital heart defect, in a country where termination of pregnancy beyond 22 weeks of gestation is not clinically performed.METHODS: Twenty-six Swedish-speaking pregnant women (n = 14) and partners (n = 12) were consecutively recruited for semi-structured telephone interviews following the prenatal diagnosis of congenital heart defect. Data was analyzed using content analysis.RESULTS: Although high satisfaction with the specialist information was described, the information was considered overwhelming and complex. Objective, honest and detailed information about multiple subjects were needed, delivered repeatedly and supplemented by written information/illustrations. Eighteen respondents had used the Internet to search for information and found issues involving searching difficulties, low quality, and that it was too complex, insufficient or unspecific. Those who terminated the pregnancy criticized that there was a lack of information about termination of pregnancy, both from health professionals and online sources, resulting in unanswered questions and unpreparedness.CONCLUSION: Individuals faced with a prenatal diagnosis of a congenital heart defect need individualized and repeated information. These needs are not all adequately met, as individuals are satisfied with the specialist consultation but left with unanswered questions regarding pregnancy termination.
|
|
| 8. |
- Clur, S A, et al.
(författare)
-
Structural heart defects associated with an increased nuchal translucency: 9 years experience in a referral centre
- 2008
-
Ingår i: Prenatal Diagnosis. - : Wiley. - 1097-0223 .- 0197-3851. ; 28:4, s. 347-354
-
Tidskriftsartikel (refereegranskat)abstract
- Objective To investigate the congenital heart disease (CHD) found in association with an increased nuchal translucency (NT) at 11 - 14 weeks of gestation in chromosomally normal and abnormal fetuses. Methods Patients referred from January 1998 until May 2007 with an increased NT (>= 95th percentile) where CHD was diagnosed were included. Chromosome analysis, fetal and postnatal echocardiography were performed. A postmortem examination followed pregnancy termination when possible. Results Major CHD was identified in 68 of 967 fetuses with an increased NT (median NT 4.8 mm, range 2.5-22 mm). Major CHD was found in 34 of 693 fetuses (4.9%) with a normal karyotype and increased NT (median 5.2 rum, range 2.5-9.6 mm). CHD frequency increased from 1.9%, with NT between 2.5 and 3.5 mm, to 27.7% when NT was >= 6.5 mm. Septal defects predominated (20%) when NT was <= 3.5 mm. With NT >3.5 rum an equal distribution of CHD types was seen. Major CHD was identified in 34 of the 274 fetuses with an abnormal karyotype and increased NT (median 4.2 mm, range 2.5-22 mm). Conclusions A variety of CHD is associated with an increased NT in the first trimester of pregnancy. Conotruncal defects, branchial arch derivative defects, left and right obstructive lesions (inflow and outflow) and shunts were seen.
|
|
| 9. |
|
|
| 10. |
|
|
| 11. |
- Dahlbäck, Charlotte, et al.
(författare)
-
Investigations on atrial function in fetuses with signs of impaired placental function.
- 2015
-
Ingår i: Prenatal Diagnosis. - : Wiley. - 1097-0223 .- 0197-3851. ; 35:6, s. 605-611
-
Tidskriftsartikel (refereegranskat)abstract
- Cardiac dysfunction has been shown in cases of placental insufficiency, but few reports exist on fetal atrial function. The aim of this study was to generate reference values for atrial strain and compare them to results in fetuses with signs of increased placental resistance and abnormal venous circulation.
|
|
| 12. |
- Ekelin, Maria, et al.
(författare)
-
Parental expectations, experiences and reactions, sense of coherence and grade of anxiety related to routine ultrasound examination with normal findings during pregnancy.
- 2009
-
Ingår i: Prenatal Diagnosis. - : Wiley. - 1097-0223 .- 0197-3851. ; 29, s. 952-959
-
Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVE: To investigate parents' expectations, experiences and reactions, sense of coherence and anxiety before and after a second-trimester routine ultrasound examination, with normal findings. METHODS: Before and after ultrasound questionnaires including the scales parents' expectations, experiences and reactions to routine ultrasound examination (PEER-U state of mind index), sense of coherence (SOC) and state and trait anxiety inventory (STAI), were sent to a 1-year cohort of women and their partners. Replies received were 2183. RESULTS: Both parents had significantly less worried state of mind (PEER-U) after the examination than before. Women had a lower grade of state anxiety after than before, but for men there was no significant change. Before the ultrasound, women had a higher degree of worried state of mind, as well as a higher grade of state and trait anxiety and a lower sense of coherence, than men. The women showed a greater reduction in worried state of mind than the men after the ultrasound examination. There were no significant differences in sense of coherence before and after ultrasound. CONCLUSIONS: Women and men are affected in their psychological well-being in relation to a routine ultrasound examination, but their sense of coherence remains stable. Copyright (c) 2009 John Wiley & Sons, Ltd.
|
|
| 13. |
|
|
| 14. |
- Ericsson, Olle, et al.
(författare)
-
Clinical validation of a novel automated cell-free DNA screening assay for trisomies 21, 13, and 18 in maternal plasma.
- 2019
-
Ingår i: Prenatal diagnosis. - : Wiley. - 1097-0223 .- 0197-3851. ; 39:11, s. 1011-1015
-
Tidskriftsartikel (refereegranskat)abstract
- To evaluate clinical performance of a new automated cell-free (cf)DNA assay in maternal plasma screening for trisomies 21, 18, and 13, and to determine fetal sex.Maternal plasma samples from 1200 singleton pregnancies were analyzed with a new non-sequencing cfDNA method, which is based on imaging and counting specific chromosome targets. Reference outcomes were determined by either cytogenetic testing, of amniotic fluid or chorionic villi, or clinical examination of neonates.The samples examined included 158 fetal aneuploidies. Sensitivity was 100% (112/112) for trisomy 21, 89% (32/36) for trisomy 18, and 100% (10/10) for trisomy 13. The respective specificities were 100%, 99.5%, and 99.9%. There were five first pass failures (0.4%), all in unaffected pregnancies. Sex classification was performed on 979 of the samples and 99.6% (975/979) provided a concordant result.The new automated cfDNA assay has high sensitivity and specificity for trisomies 21, 18, and 13 and accurate classification of fetal sex, while maintaining a low failure rate. The study demonstrated that cfDNA testing can be simplified and automated to reduce cost and thereby enabling wider population-based screening.
|
|
| 15. |
- Georgsson Öhman, Susanne, et al.
(författare)
-
Does an informational film increase women's possibility to make an informed choice about second trimester ultrasound?
- 2012
-
Ingår i: Prenatal Diagnosis. - : Wiley. - 0197-3851 .- 1097-0223. ; 32:9, s. 833-9
-
Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVE: To evaluate effects of an informational film on making an informed choice regarding second trimester ultrasound.METHOD: Randomized controlled study. The intervention was an informational film about prenatal examinations. Data were collected at gestational week 26.RESULTS: A total of 184 women in the intervention group and 206 women in the control group participated in the study. Of those in the intervention group, 81.3% made an informed choice regarding second trimester ultrasound examination compared with 76.1% in the control group (p = 0.21). Women making an informed choice scored higher in knowledge about the examination (p < 0.001), had higher degree of education (p < 0.001), and spoke more frequently Swedish as mother tongue (89.5% vs 74.7%, p = 0.01).CONCLUSIONS: An informational film does not increase women's knowledge or the number of women making an informed choice about the second trimester ultrasound. Women who did not make an informed choice about the second trimester ultrasound had a lower level of education and less knowledge about second trimester ultrasound screening.
|
|
| 16. |
- Hartwig, Tanja Schlaikjaer, et al.
(författare)
-
High risk-What's next? : A survey study on decisional conflict, regret, and satisfaction among high-risk pregnant women making choices about further prenatal testing for fetal aneuploidy
- 2019
-
Ingår i: Prenatal Diagnosis. - : WILEY. - 0197-3851 .- 1097-0223. ; 39:8, s. 635-642
-
Tidskriftsartikel (refereegranskat)abstract
- Objectives: To investigate decision making among pregnant women when choosing between noninvasive prenatal testing, invasive testing, or no further testing.Methods: Women with a high-risk result from the first trimester screening were invited to fill in two online questionnaires at gestational age 12 to 14 (Q1) and 24 weeks (Q2). The scales used were Decisional Conflict and Regret Scales, Satisfaction with genetic Counselling Scale, and Health-Relevant Personality Inventory.Results: Three hundred thirty-nine women agreed to participate, and the response rates were 76% on Q1 and 88% on Q2. A percentage of 75.4% chose an invasive test, 23.8% chose noninvasive prenatal testing (NIPT), 0.4% chose no further testing, and 0.4% had both NIPT and invasive testing. Among all participants, 13.3% had a high level of decisional conflict. We found that choosing NIPT was associated with a high decisional conflict (p = 0.013), receiving genetic counselling the same day was associated with a high decisional conflict (p = 0.039), and a high satisfaction with the genetic counselling was associated with low decisional conflict (p < 0.001). Furthermore, the personality subtrait alexithymia was associated with low decisional conflict (p = 0.043). There was a significant association between high decisional conflict and later decisional regret (p = 0.008).Conclusion: We present evidence that satisfaction with and timing of counselling are important factors to limit decisional conflict. Interestingly, women choosing NIPT had more decisional conflict than women choosing invasive testing.
|
|
| 17. |
- Hildebrand, Eric, et al.
(författare)
-
Maternal obesity and risk of Down syndrome in the offspring
- 2014
-
Ingår i: Prenatal Diagnosis. - : John Wiley & Sons. - 0197-3851 .- 1097-0223. ; 34:4, s. 310-315
-
Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVE: The objective of this article is to determine if maternal obesity is associated with an increased risk of Down syndrome in the offspring and whether the risk estimates for trisomy 21 based on combined screening is affected by maternal body mass index (BMI).METHODS: Study group I consisted of a nationwide cohort of 168 604 women giving birth; outcome was infants born with Down syndrome. Adjustment was made for maternal age. Study group II consisted of 10 224 women undergoing 1st trimester combined screening. Outcome was risk assessment for Down syndrome. All women were divided into six BMI groups, and outcomes were evaluated over the BMI strata with BMI 18.5 to 24.9 as reference and correcting for maternal age.RESULTS: Obese women had an increased risk for giving birth to an infant with Down syndrome compared with normal-weight women, BMI 30 to 34.9 odds ratio (OR) 1.31 [95% confidence interval (CI) 1.10-1.55], BMI 35 to 39.9 OR 1.12 (95% CI 0.82-1.53), BMI ≥ 40 OR 1.56 (95% CI 1.00-2.43). The observed and the expected numbers of women with a risk of Down syndrome >1/300 based on 1st trimester combined screen and maternal age were similar in each BMI group.CONCLUSION: Maternal obesity seems to increase the risk for Down syndrome births. The risk estimate for Down syndrome with 1st trimester combined screening is unaffected by BMI. © 2013 John Wiley & Sons, Ltd.
|
|
| 18. |
- Hobbins, John C., et al.
(författare)
-
Antibiotic prophylaxis before amniocentesis
- 2011
-
Ingår i: Prenatal Diagnosis. - : Wiley. - 1097-0223 .- 0197-3851. ; 31:12, s. 1213-1214
-
Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)
|
|
| 19. |
|
|
| 20. |
|
|
| 21. |
- Kacerovsky, Marian, et al.
(författare)
-
Amniotic fluid cell-free DNA in preterm prelabor rupture of membranes.
- 2018
-
Ingår i: Prenatal diagnosis. - : Wiley. - 1097-0223 .- 0197-3851. ; 38:13, s. 1086-1095
-
Tidskriftsartikel (refereegranskat)abstract
- We evaluated the levels of cell-free nuclear DNA (nDNA) and cell-free mitochondrial DNA (mtDNA) in the amniotic fluid supernatant from pregnancies complicated by preterm prelabor rupture of membranes (PPROM) based on evidence of microbial invasion of the amniotic cavity (MIAC) and/or intra-amniotic inflammation (IAI).A total of 155 women with PPROM were included in this study. Amniotic fluid samples were obtained by transabdominal amniocentesis. The levels of cell-free nDNA and mtDNA in the amniotic fluid supernatant were assessed and quantified by real-time polymerase chain reaction.The levels of cell-free nDNA and mtDNA were higher in women with MIAC and IAI than in women without these conditions (nDNA: with MIAC: median 3.9×104 genome equivalent [GE]/mL vs without MIAC: median 1.2×104 GE/mL, with IAI: median: 5.3×104 GE/mL vs without IAI: median 1.2×104 GE/mL; mtDNA: with MIAC: median 9.2×105 GE/mL vs without MIAC: median 2.5×105 GE/mL, with IAI: median 1.1×106 GE/mL vs without IAI: median 2.5×105 ; all P values≤0.01). Women with the microbial-associated IAI showed the highest levels of cell-free nDNA and mtDNA.Cell-free nDNA and mtDNA are constituents of the amniotic fluid supernatant from PPROM pregnancies. Both cell-free nDNA and mtDNA are involved in the intra-amniotic inflammatory response in women with PPROM.
|
|
| 22. |
- Legler, Tobias J., et al.
(författare)
-
Workshop report on the extraction of foetal DNA from maternal plasma
- 2007
-
Ingår i: Prenatal Diagnosis. - : Wiley. - 1097-0223 .- 0197-3851. ; 27:9, s. 824-829
-
Tidskriftsartikel (refereegranskat)abstract
- Objective Cell free foetal DNA (cff DNA) extracted from maternal plasma is now recognized as a potential source for prenatal diagnosis but the methodology is currently not well standardized. To evaluate different manual and automated DNA extraction methods with a view to developing standards, an International Workshop was performed. Methods Three plasma pools from RhD-negative pregnant women, a DNA standard, real-time-PCR protocol, primers and probes for RHD were sent to 12 laboratories and also to one company (Qiagen, Hilden, Germany). In pre-tests, pool 3 showed a low cff DNA concentration, pool I showed a higher concentration and pool 2 an intermediate concentration. Results The QIAamp DSP Virus Kit, the High Pure PCR Template Preparation Kit, an in-house protocol using the QIAamp DNA Blood Mini Kit, the CST genomic DNA purification kit, the Magna Pure LC, the MDx, the M48, the EZl and an in-house protocol using magnetic beads for manual and automated extraction were the methods that were able to reliably detect foetal RHD. The best results were obtained with the QIAamp DSP Virus Kit. The QIAamp DNA Blood Mini Kit showed very comparable results in laboratories that followed the manufacturer's protocol and started with >= 500 mu L plasma. One participant using the QIAamp DNA Blood Midi Kit failed to detect reliably RHD in pool 3. Conclusions This workshop initiated a standardization process for extraction of cff DNA in maternal plasma. The highest yield was obtained by the QIAamp DSP Virus Kit, a result that will be evaluated in more detail in future studies. Copyright (c) 2007 John Wiley & Sons, Ltd.
|
|
| 23. |
|
|
| 24. |
|
|
| 25. |
- Martin, Kimberly, et al.
(författare)
-
Impact of high-risk prenatal screening results for 22q11.2 deletion syndrome on obstetric and neonatal management: Secondary analysis from the SMART study
- 2023
-
Ingår i: Prenatal Diagnosis. - 0197-3851 .- 1097-0223. ; 43:13, s. 1574-1580
-
Tidskriftsartikel (refereegranskat)abstract
- Objective: One goal of prenatal genetic screening is to optimize perinatal care and improve infant outcomes. We sought to determine whether high-risk cfDNA screening for 22q11.2 deletion syndrome (22q11.2DS) affected prenatal or neonatal management. Methods: This was a secondary analysis from the SMART study. Patients with high-risk cfDNA results for 22q11.2DS were compared with the low-risk cohort for pregnancy characteristics and obstetrical management. To assess differences in neonatal care, we compared high-risk neonates without prenatal genetic confirmation with a 1:1 matched low-risk cohort. Results: Of 18,020 eligible participants enrolled between 2015 and 2019, 38 (0.21%) were high-risk and 17,982 (99.79%) were low-risk for 22q11.2DS by cfDNA screening. High-risk participants had more prenatal diagnostic testing (55.3%; 21/38 vs. 2.0%; 352/17,982, p<0.001) and fetal echocardiography (76.9%; 10/13 vs. 19.6%; 10/51, p<0.001). High-risk newborns without prenatal diagnostic testing had higher rates of neonatal genetic testing (46.2%; 6/13 vs. 0%; 0/51, P<0.001), echocardiography (30.8%; 4/13 vs. 4.0%; 2/50, p=0.013), evaluation of calcium levels (46.2%; 6/13 vs. 4.1%; 2/49, P<0.001) and lymphocyte count (53.8%; 7/13 vs. 15.7%; 8/51, p=0.008). Conclusions: High-risk screening results for 22q11.2DS were associated with higher rates of prenatal and neonatal diagnostic genetic testing and other 22q11.2DS-specific evaluations. However, these interventions were not universally performed, and >50% of high-risk infants were discharged without genetic testing, representing possible missed opportunities to improve outcomes for affected individuals.
|
|
| 26. |
|
|
| 27. |
- Pigg, Maritta, et al.
(författare)
-
Haplotype association and mutation analysis of the transglutaminase 1 gene for prenatal exclusion of lamellar ichthyosis
- 2000
-
Ingår i: Prenatal Diagnosis. - 0197-3851 .- 1097-0223. ; 20:2, s. 132-7
-
Tidskriftsartikel (refereegranskat)abstract
- Lamellar ichthyosis (LI) is an autosomal recessive keratinization disorder of the skin. Genetic heterogeneity has been shown for the disease and there is evidence for the involvement of the transglutaminase 1 (TGM1) gene on chromosome 14q11. We have previously identified chromosome 14q11 haplotypes associated with ichthyosis in the Norwegian population. In this paper we describe antenatal exclusion of ichthyosis in two Norwegian families by chromosome 14q11 haplotype association and direct mutation analysis. In one pregnancy, the 11-week old fetus at risk for LI was found to share only one disease-associated haplotype. A subsequent mutation analysis of the TGM1 gene in fetal DNA revealed that the fetus carried a novel 3795A-->T transversion. The affected proband was compound heterozygous for the mutations 3795A-->T and 3239G-->C resulting in an Asp430Val and a Val379Leu, respectively. In another LI family, the 11-week old fetus was found to be heterozygous for the 14q11 haplotype associated with the disease. Subsequent mutation analysis revealed that the fetus was heterozygous for the 2526A-->G transition in the splice site of intron 5 whereas the proband was homozygous for the same mutation. Our results show that haplotyping can be a useful tool for prenatal diagnosis in diseases with genetic heterogeneity.
|
|
| 28. |
|
|
| 29. |
|
|
| 30. |
|
|
| 31. |
- Simon-Bouy, Brigitte, et al.
(författare)
-
Hypophosphatasia: molecular testing of 19 prenatal cases and discussion about genetic counseling.
- 2008
-
Ingår i: Prenatal diagnosis. - : Wiley. - 0197-3851 .- 1097-0223. ; 28:11, s. 993-8
-
Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVE: We studied hypophosphatasia (HP) mutations in 19 cases prenatally detected by ultrasonography without familial history of HP. We correlated the mutations with the reported ultrasound signs, and discussed genetic counseling with regard to the particular dominantly inherited prenatal benign form of HP. METHOD: The coding sequence of the tissue nonspecific alkaline phosphatase (TNSALP) gene was analyzed by DNA sequencing, and 3D modeling was used to locate the mutated amino acids with regard to the functional domains of TNSALP. RESULTS: Although reported ultrasound signs were heterogeneous, two mutated alleles were found in 18 of the 19 cases studied, indicating recessive transmission of the disease. Functional domains of TNSALP were affected by 74% of missense mutations. In all the cases, including one with only a heterozygous mutation, molecular, biological, and familial data do not corroborate the hypothesis of prenatal benign HP. The mutation c.1133A>T observed in the prenatal benign form of HP and common in USA was not found in this series. CONCLUSION: The results point out the prenatally detectable allelic heterogeneity of HP. The nature of the detected mutations and the evidence of recessive inheritance do not support these cases being affected with prenatal benign HP.
|
|
| 32. |
- Sorensen, Anne, et al.
(författare)
-
Changes in human fetal oxygenation during maternal hyperoxia as estimated by BOLD MRI
- 2013
-
Ingår i: Prenatal Diagnosis. - : Wiley. - 1097-0223 .- 0197-3851. ; 33:2, s. 141-145
-
Tidskriftsartikel (refereegranskat)abstract
- Objective Changes in blood oxygen level dependent (BOLD) magnetic resonance imaging (MRI) signal are closely related to changes in fetal oxygenation. In this study, we aimed to investigate the changes in human fetal oxygenation during maternal hyperoxia by using the non-invasive BOLD MRI technique. Method Eight healthy pregnant women in gestational week 28 to 34 were included. With the use of a facial oxygen mask, we induced maternal hyperoxia and measured changes in the BOLD MRI signal of selected fetal organs. Results In a number of fetal organs, the BOLD MRI signal increased significantly (P<0.01) during maternal hyperoxia (mean change in %+/- SEM): liver (14.3 +/- 3.7%), spleen (15.2 +/- 3.5%) and kidney (6.2 +/- 1.8%) as well as the placenta (6.5 +/- 1.6%). In the fetal brain, however, the BOLD MRI signal remained constant (0.3 +/- 0.2%). Conclusion During maternal hyperoxia, we demonstrated an increased oxygenation in a number of human fetal organs by using the non-invasive BOLD technique. The oxygenation of the fetal brain remained constant, thus a reversed' brain sparing mechanism could be considered in healthy fetuses subjected to hyperoxia. (c) 2012 John Wiley & Sons, Ltd.
|
|
| 33. |
- Spencer, Rebecca N., et al.
(författare)
-
Development of standard definitions and grading for Maternal and Fetal Adverse Event Terminology
- 2022
-
Ingår i: Prenatal Diagnosis. - : Wiley. - 0197-3851 .- 1097-0223. ; 42:1, s. 15-26
-
Tidskriftsartikel (refereegranskat)abstract
- Objective: Adverse event (AE) monitoring is central to assessing therapeutic safety. The lack of a comprehensive framework to define and grade maternal and fetal AEs in pregnancy trials severely limits understanding risks in pregnant women. We created AE terminology to improve safety monitoring for developing pregnancy drugs, devices and interventions. Method: Existing severity grading for pregnant AEs and definitions/indicators of ‘severe’ and ‘life-threatening’ conditions relevant to maternal and fetal clinical trials were identified through a literature search. An international multidisciplinary group identified and filled gaps in definitions and severity grading using Medical Dictionary for Regulatory Activities (MedDRA) terms and severity grading criteria based on Common Terminology Criteria for Adverse Event (CTCAE) generic structure. The draft criteria underwent two rounds of a modified Delphi process with international fetal therapy, obstetric, neonatal, industry experts, patients and patient representatives. Results: Fetal AEs were defined as being diagnosable in utero with potential to harm the fetus, and were integrated into MedDRA. AE severity was graded independently for the pregnant woman and her fetus. Maternal (n = 12) and fetal (n = 19) AE definitions and severity grading criteria were developed and ratified by consensus. Conclusions: This Maternal and Fetal AE Terminology version 1.0 allows systematic consistent AE assessment in pregnancy trials to improve safety.
|
|
| 34. |
|
|
| 35. |
- Ternby, Ellen, 1987-, et al.
(författare)
-
Midwives and information on prenatal testing with focus on Down syndrome
- 2015
-
Ingår i: Prenatal Diagnosis. - : Wiley. - 0197-3851 .- 1097-0223. ; 35:12, s. 1202-1207
-
Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVE: To investigate midwives' knowledge of prenatal diagnosis especially Down syndrome, information given by midwives to parents, expectant parents' requests for information and how midwives perceive their own competence to give information.METHOD: A cross-sectional, prospective study with a questionnaire was completed by 64 out of 70 midwives working in the outpatient antenatal care in Uppsala County, Sweden.RESULTS: The midwives had varying and in some areas low levels of knowledge about Down syndrome. Information about Down syndrome was most often given only when asked for or when there was an increased probability of a Down syndrome pregnancy. The most common questions from expectant parents concerned test methods and risk assessments while questions regarding symptoms of Down syndrome and consequences of having a child with Down syndrome were uncommon. The majority (83-89%) had insufficient or no education regarding different prenatal tests. Only 2 midwives (3%) had received education about Down syndrome and 10% felt they had sufficient knowledge to inform about the syndrome. More education about prenatal tests and Down syndrome was desired by 94%.CONCLUSION: It is important to ensure that midwives in antenatal care have sufficient knowledge to inform expectant parents about the conditions screened for.
|
|
| 36. |
- Ternby, Ellen, 1987-, et al.
(författare)
-
Pregnant women's informational needs prior to decisions about prenatal diagnosis for chromosomal anomalies : A Q methodological study
- 2024
-
Ingår i: Prenatal Diagnosis. - : John Wiley & Sons. - 0197-3851 .- 1097-0223.
-
Tidskriftsartikel (refereegranskat)abstract
- ObjectiveTo study pregnant women's subjective viewpoints on what is important when receiving information prior to decision-making regarding prenatal testing for chromosomal anomalies.MethodData were collected using Q methodology. During January 2020—October 2021, 45 pregnant women in Sweden completed a 50-item Q sort. Statements regarding what is important when receiving information about prenatal screening and diagnosis were prioritized through ranking in a fixed sorting grid on an 11-point scale, from “most important” to “least important.” Socio-demographics and coping styles were surveyed through questionnaires.ResultsThree groups represented different viewpoints on what pregnant women consider important when receiving information about prenatal screening and diagnosis. Factor 1: Stepwise information and decision-making: viewing information and decision-making as a step-by-step process. Factor 2: Decision-making as a continuous process based on couple autonomy: Striving for an informed decision as a couple about tests, test results and conditions screened. Factor 3: As much information as early as possible—the importance of personal autonomy in decision-making: Prioritizing autonomous decision-making based on non-directive information early in the pregnancy.ConclusionThis study highlights the complexities involved when providing information. As shown by the differing viewpoints in this study, pregnant women's informational needs differ, making individual and personalized information preferable.
|
|
| 37. |
- Van der Veeken, Lennart, et al.
(författare)
-
Neurodevelopmental outcomes in children with isolated congenital diaphragmatic hernia : A systematic review and meta-analysis
- 2022
-
Ingår i: Prenatal Diagnosis. - : Wiley. - 0197-3851 .- 1097-0223. ; 42:3, s. 318-329
-
Forskningsöversikt (refereegranskat)abstract
- Background: Congenital diaphragmatic hernia (CDH) reportedly has neurologic consequences in childhood however little is known about the impact in isolated CDH. Aims: Herein we aimed to describe the risk of neurodevelopmental complications in children born with isolated CDH. Materials & Methods: We systematically reviewed literature for reports on the neurological outcome of infants born with isolated CDH. The primary outcome was neurodevelopmental delay. Secondary outcomes included, motor skills, intelligence, vision, hearing, language and behavior abnormalities. Results: Thirteen out of 87 (15%) studies reported on isolated CDH, including 2624 out of 24,146 children. Neurodevelopmental delay was investigated in four studies and found to be present in 16% (3-34%) of children. This was mainly attributed to motor problems in 13% (2-30%), whereas cognitive dysfunction only in 5% (0-20%) and hearing in 3% (1-7%). One study assessed the effect of fetal surgery. When both isolated and non-isolated children were included, these numbers were higher. Discussion: This systematic review demonstrates that only a minority of studies focused on isolated CDH, with neurodevelopmental delay present in 16% of children born with CDH. Conclusion: To accurately counsel patients, more research should focus on isolated CDH cases and examine children that underwent fetal surgery.
|
|
| 38. |
- van Nisselrooij, Amber E. L., et al.
(författare)
-
The aorto-left ventricular tunnel from a fetal perspective : Original case series and literature review
- 2022
-
Ingår i: Prenatal Diagnosis. - : John Wiley & Sons. - 0197-3851 .- 1097-0223. ; 42:2, s. 267-277
-
Forskningsöversikt (refereegranskat)abstract
- Introduction Aorto-left ventricular tunnel (ALVT) accounts for <0.1% of congenital heart defects. Evidence on the prognosis from a fetal perspective is limited. With this retrospective international case series, we provide information on the outcome of fetuses with ALVT.Methods All members of the Association for European Pediatric and Congenital Cardiology's (AEPC) fetal working group and fetal medicine units worldwide were invited for participation. We observed antenatal parameters, neonatal outcome and postnatal follow-up. Additionally, a systematic search of the literature was performed.Results Twenty fetuses with ALVT were identified in 10 participating centers (2001-2019). Fetal echocardiographic characteristics of ALVT included an increased cardiac-thorax ratio (95%), left ventricular end-diastolic diameter (90%) and a dysplastic aortic valve (90%). Extracardiac malformations were rare (5%). Eight fetuses died at a median gestational age (GA) of 21 + 6 weeks (range, 19-24): all showed signs of hydrops prior to 24 weeks or at autopsy. All others (60%, 12/2) were live-born (median GA 38 + 4, range 37-40), underwent surgery and were alive at last follow up (median 3.2 years, range 0.1-17). The literature reported 22 ALVT fetuses with similar outcome.Conclusions In the absence of fetal hydrops, ALVT carries a good prognosis. Fetuses who survive to 24 weeks without hydrops are likely to have a good outcome.
|
|
| 39. |
|
|
| 40. |
|
|
| 41. |
- Wester, Ulrika, et al.
(författare)
-
Chondrodysplasia punctata (CDP) with features of the tibia-metacarpal type and maternal phenytoin treatment during pregnancy
- 2002
-
Ingår i: Prenatal Diagnosis. - : Wiley. - 0197-3851 .- 1097-0223. ; 22:8, s. 663-668
-
Tidskriftsartikel (refereegranskat)abstract
- We describe a 2-year-old boy with chondrodysplasia punctata (CDP). The boy was exposed to phenytoin, in combination with carbamazepine, during pregnancy. There has been previous evidence for a connection between phenytoin exposure during pregnancy and chondrodysplasia punctata. The boy had clinical and some radiological characteristic features of CDP, of the tibia-metacarpal type. We know of no other report on a child exposed to phenytoin during pregnancy who developed CDP of this type.
|
|
| 42. |
|
|
| 43. |
- Wilbe, Maria, et al.
(författare)
-
A novel approach using long-read sequencing and ddPCR to investigate gonadal mosaicism and estimate recurrence risk in two families with developmental disorders
- 2017
-
Ingår i: Prenatal Diagnosis. - : Wiley. - 0197-3851 .- 1097-0223. ; 37:11, s. 1146-1154
-
Tidskriftsartikel (refereegranskat)abstract
- ObjectiveDe novo mutations contribute significantly to severe early-onset genetic disorders. Even if the mutation is apparently de novo, there is a recurrence risk due to parental germ line mosaicism, depending on in which gonadal generation the mutation occurred.MethodsWe demonstrate the power of using SMRT sequencing and ddPCR to determine parental origin and allele frequencies of de novo mutations in germ cells in two families whom had undergone assisted reproduction.ResultsIn the first family, a TCOF1 variant c.3156C>T was identified in the proband with Treacher Collins syndrome. The variant affects splicing and was determined to be of paternal origin. It was present in <1% of the paternal germ cells, suggesting a very low recurrence risk. In the second family, the couple had undergone several unsuccessful pregnancies where a de novo mutation PTPN11 c.923A>C causing Noonan syndrome was identified. The variant was present in 40% of the paternal germ cells suggesting a high recurrence risk.ConclusionsOur findings highlight a successful strategy to identify the parental origin of mutations and to investigate the recurrence risk in couples that have undergone assisted reproduction with an unknown donor or in couples with gonadal mosaicism that will undergo preimplantation genetic diagnosis.
|
|
| 44. |
- Wright, Stuart J, et al.
(författare)
-
How do women want to receive information about non-invasive prenatal testing? : Evidence from a discrete choice experiment
- 2022
-
Ingår i: Prenatal Diagnosis. - : John Wiley & Sons. - 0197-3851 .- 1097-0223. ; 42:11, s. 1377-1389
-
Tidskriftsartikel (refereegranskat)abstract
- Objective: Non-invasive prenatal testing (NIPT) identifies the risk of abnormalities in pregnancy, potentially reducing the risk of miscarriage associated with invasive tests. This study aimed to understand the preferences of current and future mothers about the content, format and timing of information provision about NIPT.Methods: An online discrete choice experiment (DCE) was designed comprising four attributes: when in the pregnancy information is provided (4 levels); degree of detail (2 levels); information format (6 levels); cost to women for gathering information (5 levels). Respondents included women identified by an online-panel company in Sweden. The mathematical design was informed by D-efficient criteria. Choice data were analysed using uncorrelated random parameters logit (RPL) and latent class models.Results: One thousand Swedish women (56% current mothers) aged 18 to 45 years completed the survey. On average, women preferred extensive information provided at/before 9 weeks of pregnancy. There was heterogeneity in preferences about the desired format of information provision (website, mobile app or individual discussion with a midwife) in the population.Conclusion: Women had clear preferences about the desired content, format and timing of information provision about NIPT. It is important to tailor information provision to enable informed choices about NIPT.
|
|
| 45. |
- Wätterbjörk, Inger, 1955-, et al.
(författare)
-
Pregnant women's and their partners' perception of an information model on prenatal screening
- 2012
-
Ingår i: Prenatal Diagnosis. - Malden, USA : Wiley-Blackwell. - 0197-3851 .- 1097-0223. ; 32:5, s. 461-466
-
Tidskriftsartikel (refereegranskat)abstract
- Objective: Extended verbal information on prenatal screening was given when combined ultrasound and biochemistry screening test was offered at Örebro County Council, Sweden, in 2008. The aim of this study was to describe pregnant women's and her partners' perceptions of this information model.Method: The interviews were semi-structured, and altogether, 26 interviews were performed with pregnant women and partners. Qualitative content analysis was used to analyze the data.Results: The result consists of two main categories, ‘form and content’ and ‘managing the information’, to describe the couples' perceptions of the information given. Nine categories describe the information model in: voluntariness, a separate visit, a special midwife, the content, missing information, ethical considerations, a visit on equal terms, communication within the couple, communication with other people, and emotional management.Conclusion: The information model helps expecting parents to focus on prenatal screening. Only information about prenatal screening and diagnosis was not enough for everybody; some couples want this to be an opportunity to discuss with a professional the pros and cons of prenatal screening as well as ethical considerations. The information visit gives the partner a chance to be involved and an opportunity for the couple to discuss the subject.
|
|
| 46. |
- Wätterbjörk, Inger, 1955-, et al.
(författare)
-
Reasons for declining extended information visit on prenatal screening among pregnant women and their partners
- 2015
-
Ingår i: Prenatal Diagnosis. - : Wiley-Blackwell. - 0197-3851 .- 1097-0223. ; 35:12, s. 1232-1237
-
Tidskriftsartikel (refereegranskat)abstract
- Objective: A two-step model on information on prenatal screening consists of brief information at the first visit at the Maternal Health Care Centre and an offer of extended information at a separate visit. There is a lack of knowledge why some pregnant women and their partners refrain from the extended information visit. The aim of this study was to explore their reasonsMethod: Eight qualitative interviews were analysed using Interpretive Description.Results: In the first theme “From an individual view”, the interviewees saw the invitation from their own points of view. They refrained because they did not want to receive any more information or had taken an individual position against chromosomal testing. In the theme, “From a societal view”, the interviewees perceived the offer as part of a societal view on prenatal screening that they could not support.Conclusion: The findings shows that these interviewees' reasons of declining an extended information visit are multidimensional and influenced by different views, from both an individual perspective and a more societal one. Health care professionals should be aware that some persons could have a different view on health care services and could be reluctant to accept offered services.
|
|
| 47. |
|
|
| 48. |
|
|
| 49. |
- Petignat, Patrick, et al.
(författare)
-
Fetal varicella-herpes zoster syndrome in early pregnancy: ultrasonographic and morphological correlation
- 2001
-
Ingår i: Prenatal Diagnosis. - 1097-0223. ; 21:2, s. 121-124
-
Tidskriftsartikel (refereegranskat)abstract
- We report a case of an intrauterine fetal infection by the varicella-herpes zoster virus following maternal varicella at 17 weeks' amenorrhea. Prenatal diagnosis of fetal infection was confirmed by serology and fetal damage by ultrasonography. Autopsy of the fetus showed multiorgan manifestation with disseminated foci of necrosis and microcalcifications, encephalitis and unilateral segmental skin scarring with an underlying hypoplastic fixed lower limb. The placenta showed a multifocal chronic villitis with multinucleated giant cells. The lesions included segmental anomalies and multiorgan damage.
|
|
| 50. |
|
|
