Results 41 to 50 of about 2,740 (178)

Prenatal Spectrum of COL2A1‐Related Spondyloepiphyseal Dysplasia Congenita: A Review and Two Case Reports

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective To review the published literature on prenatal findings of COL2A1‐related SEDC, summarizing reported imaging and molecular variants, and to describe two additional prenatal cases evaluated at a tertiary referral center. Method A narrative review with a systematic search strategy was conducted to analyze prenatal imaging findings ...
López‐Rodríguez Larissa   +10 more
wiley   +1 more source

Prenatal Genetic Testing for Beckwith‐Wiedemann Syndrome: Considerations, Challenges and Observations (A Real‐World Study)

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective Prenatal genetic testing for imprinting disorders is rarely requested with the exception of Beckwith‐Wiedemann syndrome (BWS) which is associated with specific ultrasound findings (e.g., placental mesenchymal dysplasia, omphalocele). However, genetic testing for BWS is challenging as aberrant DNA methylation has to be addressed which
Melissa Connolly   +10 more
wiley   +1 more source

Iflaviruses in arthropods: when small is mighty

open access: yesInsect Science, EarlyView.
Many arthropod species harbor iflaviruses, which often cause covert (asymptomatic) infections, but may still affect host fitness. We review the impact of iflaviruses on arthropod fitness, immunity, behaviour as well as the iflavirus’ host range, transmission, tissue tropism and the interactions with other microorganisms within arthropods.
Annamaria Mattia   +3 more
wiley   +1 more source

Mosaic Trisomy 7 at Amniocentesis: Prenatal Diagnosis and Molecular Genetic Analyses

open access: yesTaiwanese Journal of Obstetrics & Gynecology, 2010
Objective: To present prenatal diagnosis and molecular genetic analyses of mosaic trisomy 7. Materials, Methods and Results: A 38-year-old primigravid woman underwent amniocentesis at 19 weeks of gestation because of her advanced maternal age ...
Chih-Ping Chen   +12 more
doaj   +1 more source

Placental basal plate with attached myofibers and adverse pregnancy outcomes: A systematic scoping review

open access: yesActa Obstetricia et Gynecologica Scandinavica, EarlyView.
The presence of basal plate myometrial fibers was associated with higher rates of placenta‐related pregnancy disorders and abnormal placental attachment in subsequent pregnancies, but heterogeneity in the data was found due to variable inclusion criteria, sampling methods, and reported outcomes.
Eric Jauniaux   +3 more
wiley   +1 more source

A prenatally diagnosed Klinefelter syndrome case of 46,XX/47,XXY mosaicism with partial deletion of Y chromosome

open access: yesTaiwanese Journal of Obstetrics & Gynecology
Objective: Herein, we report the first case of 46,XX/47,XXY mosaicism with a partially deleted Y chromosome. Case report: Chorionic villus sampling (CVS; G-banding) was performed due to increased nuchal translucency; the results showed a 46,XX karyotype.
Haruna Okubo   +12 more
doaj   +1 more source

Shaping Future Children, Sex Selection, and “Normal” Human Capacities

open access: yesBioethics, EarlyView.
ABSTRACT If we think that parents have an obligation to have a healthy child then we need to know what counts as healthy, when male and female children are born with very different capacities. If we give up on the idea that our obligations to use technologies of genetic selection are discharged once we try to secure the birth of a healthy child, as ...
Robert Sparrow
wiley   +1 more source

Steroidogenic compensation and lipid deficiency with enhanced NAD+ salvage in small‐for‐gestational‐age placenta

open access: yesThe FEBS Journal, EarlyView.
Fetal growth restriction is associated with placental metabolic adaptations. In small‐for‐gestational‐age placenta (SGA), cholesterol receptors and steroidogenic enzymes are upregulated, enhancing steroidogenesis. NAD salvage pathway is also increased to support NADP+/NADPH requirements.
Serena Xodo   +4 more
wiley   +1 more source

Altered fetal growth, placental abnormalities, and stillbirth.

open access: yesPLoS ONE, 2017
BackgroundWorldwide, stillbirth is one of the leading causes of death. Altered fetal growth and placental abnormalities are the strongest and most prevalent known risk factors for stillbirth.
Radek Bukowski   +16 more
doaj   +1 more source

Successful application of the strategy of blastocyst biopsy, vitrification, whole genome amplification, and thawed embryo transfer for preimplantation genetic diagnosis of neurofibromatosis type 1

open access: yesTaiwanese Journal of Obstetrics & Gynecology, 2011
Objective: Preimplantation genetic diagnosis (PGD) offers an alternative for women to carry an unaffected fetus risk of hereditary diseases. Trophectoderm biopsy may provide more cells for accurate diagnosis.
Yi-Lin Chen   +9 more
doaj   +1 more source

Home - About - Disclaimer - Privacy