Found: 145
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Preferences for coordinated care for rare diseases: discrete choice experiment.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03353-0
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- Publication type:
- Article
Techniques in current use in prenatal diagnosis.
- Published in:
- 1994
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- Publication type:
- journal article
“We might get a lot more families who will agree”: Muslim and Jewish perspectives on less invasive perinatal and paediatric autopsy.
- Published in:
- PLoS ONE, 2018, v. 13, n. 8, p. 1, doi. 10.1371/journal.pone.0202023
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- Publication type:
- Article
Non-invasive prenatal testing: use of cell-free fetal DNA in Down syndrome screening.
- Published in:
- 2017
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- Publication type:
- editorial
Evaluation of preferences of women and healthcare professionals in Singapore for implementation of noninvasive prenatal testing for Down syndrome.
- Published in:
- 2017
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- Publication type:
- journal article
Authors's reply.
- Published in:
- BJOG: An International Journal of Obstetrics & Gynaecology, 1994, v. 101, n. 10, p. 924, doi. 10.1111/j.1471-0528.1994.tb13563.x
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- Publication type:
- Article
Charts of fetal size: 3. Abdominal measurements.
- Published in:
- BJOG: An International Journal of Obstetrics & Gynaecology, 1994, v. 101, n. 2, p. 125, doi. 10.1111/j.1471-0528.1994.tb13077.x
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- Publication type:
- Article
Charts of fetal size: 4. Femur length.
- Published in:
- BJOG: An International Journal of Obstetrics & Gynaecology, 1994, v. 101, n. 2, p. 132, doi. 10.1111/j.1471-0528.1994.tb13078.x
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- Publication type:
- Article
Charts of fetal size: 1. Methodology.
- Published in:
- BJOG: An International Journal of Obstetrics & Gynaecology, 1994, v. 101, n. 1, p. 29, doi. 10.1111/j.1471-0528.1994.tb13006.x
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- Publication type:
- Article
Charts of fetal size: 2. Head measurements*.
- Published in:
- BJOG: An International Journal of Obstetrics & Gynaecology, 1994, v. 101, n. 1, p. 35, doi. 10.1111/j.1471-0528.1994.tb13007.x
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- Publication type:
- Article
Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 11, p. 1438, doi. 10.1038/ejhg.2015.57
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- Publication type:
- Article
Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 11, p. 1592, doi. 10.1038/ejhg.2015.109
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- Publication type:
- Article
An easy test but a hard decision: ethical issues concerning non-invasive prenatal testing for autosomal recessive disorders.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 8, p. 1004, doi. 10.1038/ejhg.2014.238
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- Publication type:
- Article
Non-invasive prenatal testing for single gene disorders: exploring the ethics.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 7, p. 713, doi. 10.1038/ejhg.2012.250
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- Publication type:
- Article
Current controversy in prenatal diagnosis: The use of cfDNA to screen for monogenic conditions in low risk populations is ready for clinical use.
- Published in:
- Prenatal Diagnosis, 2024, v. 44, n. 4, p. 389, doi. 10.1002/pd.6469
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- Publication type:
- Article
Twenty years of progress in the diagnosis and management of foetal urinary tract conditions.
- Published in:
- Prenatal Diagnosis, 2024, v. 44, n. 2, p. 115, doi. 10.1002/pd.6528
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- Publication type:
- Article
New ventures for Prenatal Diagnosis.
- Published in:
- Prenatal Diagnosis, 2023, v. 43, n. 13, p. 1573, doi. 10.1002/pd.6486
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- Publication type:
- Article
Position statement from the International Society for Prenatal Diagnosis on the use of non‐invasive prenatal testing for the detection of fetal chromosomal conditions in singleton pregnancies.
- Published in:
- Prenatal Diagnosis, 2023, v. 43, n. 7, p. 814, doi. 10.1002/pd.6357
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- Publication type:
- Article
Non‐invasive fetal genotyping for maternal alleles with droplet digital PCR: A comparative study of analytical approaches.
- Published in:
- Prenatal Diagnosis, 2023, v. 43, n. 4, p. 477, doi. 10.1002/pd.6333
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- Publication type:
- Article
Facilitating variant curation sharing for fetal precision genomics: A new venture for prenatal diagnosis.
- Published in:
- Prenatal Diagnosis, 2022, v. 42, n. 12, p. 1479, doi. 10.1002/pd.6252
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- Publication type:
- Article
Factors that impact on women's decision‐making around prenatal genomic tests: An international discrete choice survey.
- Published in:
- Prenatal Diagnosis, 2022, v. 42, n. 7, p. 934, doi. 10.1002/pd.6159
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- Publication type:
- Article
Lessons learnt from prenatal exome sequencing.
- Published in:
- Prenatal Diagnosis, 2022, v. 42, n. 7, p. 831, doi. 10.1002/pd.6165
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- Publication type:
- Article
International Society for Prenatal Diagnosis Updated Position Statement on the use of genome-wide sequencing for prenatal diagnosis.
- Published in:
- 2022
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- Publication type:
- journal article
Implementing a rapid fetal exome sequencing service: What do parents and health professionals think?
- Published in:
- Prenatal Diagnosis, 2022, v. 42, n. 6, p. 783, doi. 10.1002/pd.6140
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- Publication type:
- Article
Diagnostic yield of exome sequencing for prenatal diagnosis of fetal structural anomalies: A systematic review and meta‐analysis.
- Published in:
- Prenatal Diagnosis, 2022, v. 42, n. 6, p. 662, doi. 10.1002/pd.6115
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- Publication type:
- Article
What's out there for parents? A systematic review of online information about prenatal microarray and exome sequencing.
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- Prenatal Diagnosis, 2022, v. 42, n. 1, p. 97, doi. 10.1002/pd.6066
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- Publication type:
- Article
Non-invasive prenatal testing 10 years on.
- Published in:
- 2021
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- Publication type:
- editorial
Current controversies in prenatal diagnosis: Expanded NIPT that includes conditions other than trisomies 13, 18, and 21 should be offered.
- Published in:
- Prenatal Diagnosis, 2021, v. 41, n. 10, p. 1316, doi. 10.1002/pd.5943
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- Publication type:
- Article
A new decade, fond farewells and a new era for Prenatal Diagnosis.
- Published in:
- Prenatal Diagnosis, 2021, v. 41, n. 1, p. 3, doi. 10.1002/pd.5891
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- Publication type:
- Article
Right or wrong? Looking through the retrospectoscope to analyse predictions made a decade ago in prenatal diagnosis and fetal surgery.
- Published in:
- Prenatal Diagnosis, 2020, v. 40, n. 13, p. 1627, doi. 10.1002/pd.5870
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- Publication type:
- Article
Right or wrong? Looking through the retrospectoscope to analyse predictions made a decade ago in prenatal diagnosis and fetal surgery.
- Published in:
- 2020
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- Publication type:
- journal article
Current controversies in prenatal diagnosis 2: The 59 genes ACMG recommends reporting as secondary findings when sequencing postnatally should be reported when detected on fetal (and parental) sequencing.
- Published in:
- 2020
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- Publication type:
- editorial
Current controversies in prenatal diagnosis 2: The 59 genes ACMG recommends reporting as secondary findings when sequencing postnatally should be reported when detected on fetal (and parental) sequencing.
- Published in:
- Prenatal Diagnosis, 2020, v. 40, p. 1508, doi. 10.1002/pd.5670
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- Publication type:
- Article
Couples experiences of receiving uncertain results following prenatal microarray or exome sequencing: A mixed-methods systematic review.
- Published in:
- 2020
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- Publication type:
- journal article
The 2019 Malcolm Ferguson-Smith Young Investigator Award.
- Published in:
- 2020
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- Publication type:
- editorial
The role of sonographic phenotyping in delivering an efficient noninvasive prenatal diagnosis service for FGFR3-related skeletal dysplasias.
- Published in:
- 2020
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- Publication type:
- journal article
"The communication and support from the health professional is incredibly important": A qualitative study exploring the processes and practices that support parental decision-making about postmortem examination.
- Published in:
- 2019
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- Publication type:
- journal article
The 2018 Malcolm Ferguson-Smith Young Investigator Award.
- Published in:
- 2019
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- Publication type:
- editorial
Ultrasound examination: The key to maximising the benefits of advances in molecular diagnostic technologies.
- Published in:
- 2019
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- Publication type:
- editorial
A sonographic approach to the prenatal diagnosis of skeletal dysplasias.
- Published in:
- 2019
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- Publication type:
- journal article
Is traditional perinatal autopsy needed after detailed fetal ultrasound and post-mortem MRI?
- Published in:
- 2019
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- Publication type:
- journal article
Ensuring high standards for the delivery of NIPT world-wide: Development of an international external quality assessment scheme.
- Published in:
- 2019
- By:
- Publication type:
- journal article
In case you missed it: The prenatal diagnosis editors bring you the most significant advances of 2018.
- Published in:
- 2019
- By:
- Publication type:
- editorial
Missed diagnoses of abnormal copy number variant cases: A national epidemic or an endemic at a single institution?
- Published in:
- 2018
- By:
- Publication type:
- editorial
The 2017 Malcolm Ferguson-Smith Young Investigator Award.
- Published in:
- 2018
- By:
- Publication type:
- editorial
Current controversies in prenatal diagnosis 2: Cell-free DNA prenatal screening should be used to identify all chromosome abnormalities.
- Published in:
- 2018
- By:
- Publication type:
- editorial
In case you missed it: The Prenatal Diagnosis editors bring you the most significant advances of 2017.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Advances in the prenatal diagnosis of monogenic disorders.
- Published in:
- 2018
- By:
- Publication type:
- editorial
Promises, pitfalls and practicalities of prenatal whole exome sequencing.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Has noninvasive prenatal testing impacted termination of pregnancy and live birth rates of infants with Down syndrome?
- Published in:
- Prenatal Diagnosis, 2017, v. 37, n. 13, p. 1281, doi. 10.1002/pd.5182
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- Publication type:
- Article