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- Petignat, Patrick, et al.
(författare)
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Fetal varicella-herpes zoster syndrome in early pregnancy: ultrasonographic and morphological correlation
- 2001
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Ingår i: Prenatal Diagnosis. - 1097-0223. ; 21:2, s. 121-124
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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.
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| 4. |
- Buchanan, James, et al.
(författare)
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Factor's that impact on women's decision-making around prenatal genomic tests : An international discrete choice survey
- 2022
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Ingår i: Prenatal Diagnosis. - : John Wiley & Sons. - 0197-3851 .- 1097-0223. ; 42:7, s. 934-946
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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.
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| 7. |
- Burger, Nicole B., et al.
(författare)
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Involvement of neurons and retinoic acid in lymphatic development: new insights in increased nuchal translucency
- 2014
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Ingår i: Prenatal Diagnosis. - : Wiley. - 1097-0223 .- 0197-3851. ; 34:13, s. 1312-1319
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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.
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| 9. |
- Carlsson, Tommy, et al.
(författare)
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Experiences of Informational Needs and Received Information Following a Prenatal Diagnosis of Congenital Heart Defect
- 2016
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Ingår i: Prenatal Diagnosis. - : Wiley. - 0197-3851 .- 1097-0223. ; 36:6, s. 515-522
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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.
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| 10. |
- Clur, S A, et al.
(författare)
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Structural heart defects associated with an increased nuchal translucency: 9 years experience in a referral centre
- 2008
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Ingår i: Prenatal Diagnosis. - : Wiley. - 1097-0223 .- 0197-3851. ; 28:4, s. 347-354
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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.
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