Works matching DE "PRENATAL genetic testing"
Results: 479
Editorial: Recent advances in causes, diagnosis, and therapeutics for congenital heart defects.
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- Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2025.1564492
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- Article
Haplotypic classification of dystrophic epidermolysis bullosa in Tunisian consanguineous families: implication for diagnosis.
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- Archives of Dermatological Research, 2008, v. 300, n. 7, p. 365, doi. 10.1007/s00403-008-0861-2
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- Article
Familial Hydrocephalus and Dysgenesis of the Corpus Callosum Associated with Xp22.33 Duplication and Stenosis of the Aqueduct of Sylvius with X-Linked Recessive Inheritance Pattern.
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- 2019
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- Publication type:
- Case Study
Screening for Single Gene Genetic Disease.
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- Gynecologic & Obstetric Investigation, 2005, v. 60, n. 1, p. 19, doi. 10.1159/000083481
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- Article
SCREENING SYNDROMES OUT: UPDATING THE INTERNATIONAL "GENOCIDE" VERNACULAR FOR A CHANGING TECHNOLOGICAL AGE.
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- North Carolina Journal of International Law, 2020, v. 45, n. 1, p. 163
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- Publication type:
- Article
Prenatal exome sequencing and chromosomal microarray analysis in fetal structural anomalies in a highly consanguineous population reveals a propensity of ciliopathy genes causing multisystem phenotypes.
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- Human Genetics, 2022, v. 141, n. 1, p. 101, doi. 10.1007/s00439-021-02406-9
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- Article
The current and future impact of genome-wide sequencing on fetal precision medicine.
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- Human Genetics, 2020, v. 139, n. 9, p. 1121, doi. 10.1007/s00439-019-02088-4
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- Article
Special issue on "Feto-Maternal Genomic Medicine": a decade of incredible advances.
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- 2020
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- Editorial
Genetic interventions to ‘have healthier children': a viewpoint from the United Kingdom.
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- Bioethica Forum, 2017, v. 10, n. 1, p. 26
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- Article
An ordinary future: Margaret Mead, the problem of disability, and a child born different.
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- Journal of the History of the Behavioral Sciences, 2024, v. 60, n. 4, p. 1, doi. 10.1002/jhbs.22327
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- Article
孕中期超声联合无创产前基因筛查在检出染色体异常胎儿中的应用价值.
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- Progress in Modern Biomedicine, 2023, v. 23, n. 17, p. 3382, doi. 10.13241/j.cnki.pmb.2023.17.035
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- Article
Analysis of Attitude of Public Towards Prenatal Screening for Diagnosis of Genetic Disorders.
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- Egyptian Academic Journal of Biological Sciences. B, Zoology, 2023, v. 15, n. 1, p. 287, doi. 10.21608/EAJBSZ.2023.306575
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- Article
Isolated non‐immune‐mediated second‐degree atrioventricular block in the fetus: natural history and predictive factors for spontaneous recovery.
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- Ultrasound in Obstetrics & Gynecology, 2024, v. 64, n. 4, p. 486, doi. 10.1002/uog.27662
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- Publication type:
- Article
EP09.99: Prenatal diagnosis and clinical pregnancy outcome of fetuses with conotruncal defects in a Chinese cohort.
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- Ultrasound in Obstetrics & Gynecology, 2024, v. 64, p. 221, doi. 10.1002/uog.28480
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- Publication type:
- Article
EP09.61: New insights in the management of aberrant right subclavian artery: is it a real risk factor for genetic disorders? Analysis of postnatal outcome.
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- Ultrasound in Obstetrics & Gynecology, 2024, v. 64, p. 212, doi. 10.1002/uog.28442
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- Publication type:
- Article
EP07.58: Prenatal detection of Down syndrome based on second and third trimester ultrasound scan.
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- Ultrasound in Obstetrics & Gynecology, 2024, v. 64, p. 178, doi. 10.1002/uog.28306
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- Article
EP06.75: Analysis of prenatal ultrasound findings in neonates diagnosed with genetic disorders through next‐generation sequencing.
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- Ultrasound in Obstetrics & Gynecology, 2024, v. 64, p. 166, doi. 10.1002/uog.28246
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- Publication type:
- Article
EP06.05: Prenatal ultrasound findings of congenital disorders of glycosylation type Id: a case report.
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- Ultrasound in Obstetrics & Gynecology, 2024, v. 64, p. 149, doi. 10.1002/uog.28179
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- Publication type:
- Article
Non‐invasive cell‐free DNA prenatal screening for trisomy 21 as part of primary screening strategy in twin pregnancy.
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- Ultrasound in Obstetrics & Gynecology, 2024, v. 63, n. 6, p. 807, doi. 10.1002/uog.26311
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- Publication type:
- Article
Reply.
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- Ultrasound in Obstetrics & Gynecology, 2023, v. 62, n. 4, p. 612, doi. 10.1002/uog.27471
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- Publication type:
- Article
Double aortic arch: implications of antenatal diagnosis, differential growth of arches during pregnancy, associated abnormalities and postnatal outcome.
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- Ultrasound in Obstetrics & Gynecology, 2023, v. 62, n. 1, p. 69, doi. 10.1002/uog.26186
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- Publication type:
- Article
Reply.
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- 2022
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- Publication type:
- Letter
Abnormal Sylvian fissure at 20-30 weeks as indicator of malformations of cortical development: role of prenatal whole-genome sequencing.
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- 2022
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- Publication type:
- Letter
Association of prenatal renal ultrasound abnormalities with pathogenic copy number variants in a large Chinese cohort.
- Published in:
- 2022
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- Publication type:
- journal article
Reply.
- Published in:
- 2022
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- Publication type:
- Letter
VP28.09: Genome‐wide cell‐free DNA test for fetal chromosomal abnormalities: unrestricted versus restricted reporting.
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- Ultrasound in Obstetrics & Gynecology, 2021, v. 58, p. 215, doi. 10.1002/uog.24434
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- Publication type:
- Article
VP28.04: Increasing cell‐free DNA prenatal testing in a clinical practice and decreasing rate of invasive procedures in Slovenia.
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- Ultrasound in Obstetrics & Gynecology, 2021, v. 58, p. 213, doi. 10.1002/uog.24429
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- Publication type:
- Article
OC05.05: Observed chromosomal imbalances and performance of cell‐free DNA testing in pregnancies with fetal cardiac abnormalities.
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- Ultrasound in Obstetrics & Gynecology, 2021, v. 58, p. 16, doi. 10.1002/uog.23807
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- Publication type:
- Article
OC01.05: Variants of unknown significance in the setting of severe brain malformations: are the dedicated imaging studies of any help?
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- Ultrasound in Obstetrics & Gynecology, 2021, v. 58, p. 2, doi. 10.1002/uog.23771
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- Publication type:
- Article
Reply.
- Published in:
- 2021
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- Publication type:
- Letter
Performance of a targeted cell-free DNA prenatal test for 22q11.2 deletion in a large clinical cohort.
- Published in:
- 2021
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- Publication type:
- journal article
Cell‐free DNA testing of maternal blood in screening for trisomies in twin pregnancy: updated cohort study at 10–14 weeks and meta‐analysis.
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- Ultrasound in Obstetrics & Gynecology, 2021, v. 58, n. 2, p. 178, doi. 10.1002/uog.23648
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- Publication type:
- Article
Cell-free DNA testing for prenatal aneuploidy assessment: analysis of professional society statements.
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- 2021
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- Publication type:
- Letter
Reply.
- Published in:
- 2021
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- Publication type:
- Letter
Integration of nuchal translucency screening into the first-trimester fetal anatomy scan: the time has come.
- Published in:
- 2021
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- Publication type:
- journal article
VP50.07: Role of second trimester uterine artery Doppler in era of pre‐eclampsia screening.
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- Ultrasound in Obstetrics & Gynecology, 2020, v. 56, p. 286, doi. 10.1002/uog.23187
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- Publication type:
- Article
VP33.09: Exome sequencing versus gene panels for non‐immune hydrops fetalis.
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- Ultrasound in Obstetrics & Gynecology, 2020, v. 56, p. 196, doi. 10.1002/uog.22833
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- Publication type:
- Article
VP30.02: 22q11 microdeletions and duplications: how are they detected prenatally?
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- Ultrasound in Obstetrics & Gynecology, 2020, v. 56, p. 185, doi. 10.1002/uog.22793
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- Publication type:
- Article
VP26.07: Gorlin‐Goltz syndrome: genetic and prenatal counselling and work‐up.
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- Ultrasound in Obstetrics & Gynecology, 2020, v. 56, p. 170, doi. 10.1002/uog.22743
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- Publication type:
- Article
VP06.03: Changing indications of prenatal diagnosis in molecular era: experience of single centre in North India.
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- Ultrasound in Obstetrics & Gynecology, 2020, v. 56, p. 75, doi. 10.1002/uog.22415
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- Publication type:
- Article
State-wide utilization and performance of traditional and cell-free DNA-based prenatal testing pathways: the Victorian Perinatal Record Linkage (PeRL) study.
- Published in:
- 2020
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- Publication type:
- journal article
Value of increased nuchal translucency in the era of cell-free DNA testing.
- Published in:
- 2020
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- Publication type:
- Letter
Benefit vs potential harm of genome-wide prenatal cfDNA testing requires further investigation and should not be dismissed based on current data.
- Published in:
- 2020
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- Publication type:
- Letter
Should cell-free DNA testing be used in pregnancy with increased fetal nuchal translucency?
- Published in:
- 2020
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- Publication type:
- journal article
Reply.
- Published in:
- 2020
- By:
- Publication type:
- Letter
Increased nuchal translucency: diagnostic value of RASopathy-disorder testing.
- Published in:
- 2020
- By:
- Publication type:
- Letter
Cell-free DNA analysis after reduction in multifetal pregnancy.
- Published in:
- 2020
- By:
- Publication type:
- Letter
Spontaneous resolution of large pericardial effusion associated with right ventricular outpouching in four fetuses.
- Published in:
- 2019
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- Publication type:
- Letter
EP06.16: Recurrent fetal alobar holoprosencephaly: a consultation challenge.
- Published in:
- Ultrasound in Obstetrics & Gynecology, 2019, v. 54, p. 265, doi. 10.1002/uog.21216
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- Publication type:
- Article
EP04.04: Trisomy 13 with normal combined first trimester screening and normal NIPT: a rare case of true fetal mosaicism.
- Published in:
- Ultrasound in Obstetrics & Gynecology, 2019, v. 54, p. 249, doi. 10.1002/uog.21159
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- Publication type:
- Article