Prenatal Diagnosis, EarlyView.ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa +7 more
wiley +1 more source
EP09.03: Prenatal cf‐
, 2016 D. M. Strah, Faris Mujezinović
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Perspectives on Fetal Sex and Prenatal Diagnosis of Differences of Sex Development Among Midwives
Prenatal Diagnosis, EarlyView.ABSTRACT Objective Cell‐free DNA screening has increased prenatal diagnosis/suspicion of fetal differences of sex development (DSD). This study explored how midwives discuss fetal sex and possible DSD with pregnant patients. Method Active members of the American College of Nurse‐Midwives were surveyed electronically to assess terminology use when ...
Madeline Dingle +6 more
wiley +1 more source
Preimplantation genetic testing for aneuploidy (PGT-A) and technology platform: does platform influence euploid call rates and/or subsequent pregnancy outcomes? [PDF]
, 2019 Eleni A. Greenwood +6 more
openalex +1 more source
Prenatal Diagnosis, EarlyView.ABSTRACT In utero interventions are transformative in addressing genetic and anatomic conditions during fetal development. Next generation sequencing enables early genetic testing, playing a pivotal role in prenatal decision‐making by supporting risk stratification, precise and timely diagnosis, which directly informs eligibility for fetal surgical and
Matthew A. Shear +7 more
wiley +1 more source
Accurate estimation of homologue-specific DNA concentration-ratios in cancer samples allows long-range haplotyping [PDF]
, 2011 Interpretation of allelic copy measurements at polymorphic markers in cancer samples presents distinctive challenges and opportunities. Due to frequent gross chromosomal alterations occurring in cancer (aneuploidy), many genomic regions are present at ...
Gad Getz +2 more
core +1 more source
The clinical effectiveness of preimplantation genetic diagnosis for aneuploidy in all 24 chromosomes (PGD-A): systematic review [PDF]
, 2014 Evelyn Lee +3 more
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Non-invasive, label-free optical analysis to detect aneuploidy within the inner cell mass of the preimplantation embryo [PDF]
, 2020 Tiffany C. Y. Tan +8 more
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Prenatal Diagnosis, EarlyView.ABSTRACT The main objective of our study was to conduct a systematic literature review and a meta‐analysis to evaluate the incremental yield of chromosomal microarray analysis compared with karyotyping in cases of fetal growth restriction. Our review was designed according to the PRISMA guidelines.
Ioakeim Sapantzoglou +8 more
wiley +1 more source