Results 61 to 70 of about 12,655,449 (158)

Non-invasive prenatal testing (NIPT) for fetal sex determination [PDF]

open access: yes, 2016
Source at https://www.helsebiblioteket.no/X‐bundne recessive sykdommer er alvorlige arvelige sykdommer som hovedsakelig rammer gutter. Når en kvinne som er bærer av en X‐bundet recessiv sykdom føder barn, kan hun få en frisk jente, en frisk jente som
Solberg, Berge   +4 more
core  

Discordant prenatal and postnatal RhD typing caused by a novel RHD frameshift variant (c.540del; p.Leu181CysfsTer48) in Swedish individuals

open access: yesVox Sanguinis, EarlyView.
Abstract Background and Objectives Non‐invasive prenatal testing (NIPT) for fetal RHD genotyping is widely used to guide anti‐D prophylaxis, but discrepancies between predicted fetal RhD status and postnatal serological typing can occur due to variant RHD alleles.
Ahlam Badri   +4 more
wiley   +1 more source

Knowledge and attitudes regarding non-invasive prenatal testing (NIPT) and preferences for risk information among high school students in Sweden [PDF]

open access: yes, 2016
Non-invasive prenatal testing (NIPT) was recently introduced for prenatal testing of genetic disorders. Cell-free fetal DNA is present in maternal blood during pregnancy and enables detection of fetal chromosome aberrations in a maternal blood sample ...
Iwarsson, Erik   +11 more
core   +1 more source

Detection of SRY‐positive46,XX male syndrome by the analysis of cell‐free fetal DNA via non‐invasive prenatal testing

open access: yesClinical Case Reports, 2019
We report a new case of 46,XX male syndrome that was detected following an anomalous result by non‐invasive prenatal testing (NIPT) and a discrepancy between the fetal karyotype and the ultrasonographic investigation.
Luigia De Falco   +6 more
doaj   +1 more source

Improving Clinical Outcomes Related to Preeclampsia: Real‐World Impacts of Implementation of a Redesigned Approach to Antenatal Care—The Initial Maternity Assessment and Planning (IMAP) Service

open access: yesAustralian and New Zealand Journal of Obstetrics and Gynaecology, Volume 66, Issue 5, October 2026.
ABSTRACT Introduction Preeclampsia is a major contributor to maternal and perinatal morbidity. First‐trimester predictive models for preterm preeclampsia have better efficacy than history‐based screening for prevention of this adverse pregnancy outcome.
Ailsa Borbolla Foster   +7 more
wiley   +1 more source

Genomic Medicine Sweden: Advancing precision medicine at the national level

open access: yesJournal of Internal Medicine, Volume 300, Issue 4, Page 397-419, October 2026.
Abstract High‐throughput sequencing has transformed clinical diagnostics of rare diseases (RD), cancer and infectious diseases by enabling the identification of disease‐causing genetic alterations and facilitating individualised treatment and care.
Anders Edsjö   +58 more
wiley   +1 more source

MT‐RNR1 genotype testing for preventing aminoglycoside‐mediated ototoxicity: A guideline developed by the UK Centre of Excellence in Regulatory Science and Innovation in Pharmacogenomics (CERSI‐PGx)

open access: yesBritish Journal of Clinical Pharmacology, Volume 92, Issue 9, Page 3002-3011, September 2026.
Aminoglycosides are broad‐spectrum antibiotics used in the management of severe infections. Aminoglycosides are associated with nephrotoxicity and ototoxicity. Although dosing strategies such as once‐daily administration and therapeutic drug monitoring have reduced the incidence of nephrotoxicity, ototoxicity remains unpredictable and may occur at ...
John H. McDermott   +16 more
wiley   +1 more source

Non-invasive prenatal test to screen common trisomies in twin pregnancies

open access: yesMolecular Cytogenetics, 2020
Objectives Recent years have witnessed a shift from invasive methods of prenatal screening to non-invasive strategies. Accordingly, non-invasive prenatal testing (NIPT) using cell-free fetal DNA in maternal plasma has gained a considerable deal of ...
Mahtab Motevasselian   +10 more
doaj   +1 more source

Free Fetal DNA Testing to Guide Early Intervention in the Management of the Kell Alloimmunized Pregnancy

open access: yes
Prenatal Diagnosis, EarlyView.
Kenneth J. Moise Jr   +3 more
wiley   +1 more source

Novel and High‐Throughput Method of Isolating Single Fetal Cells Using FACS for NIPT

open access: yesPrenatal Diagnosis, Volume 46, Issue 10, Page 1536-1542, September 2026.
ABSTRACT Objective To evaluate fluorescence activated cell sorting (FACS) as a method of single‐cell isolation of rare circulating fetal cells from maternal blood for use in cell‐based non‐invasive prenatal testing (cbNIPT). Method Blood samples (30 mL) were collected from 75 ‘low‐risk’ pregnant women (gestational age 10–15 weeks).
Ripudaman Singh   +9 more
wiley   +1 more source

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