Results 71 to 80 of about 19,473 (244)

Parental behaviors supporting child development in mothers of children with sex chromosome trisomies

open access: yesInfant Mental Health Journal: Infancy and Early Childhood, Volume 47, Issue 4, July 2026.
Abstract Sex chromosome trisomies (SCTs) are genetic conditions caused by the presence of an additional sex chromosome. While recent studies have focused on analyzing the early competencies of children with SCTs, relatively few have investigated aspects of parent‐child interaction.
Laura Cordolcini   +6 more
wiley   +1 more source

Efecto de la amniocentesis genética en las mediciones Doppler de las circulaciones útero-placentaria y feto-placentaria

open access: yesCirugía y Cirujanos
Objetivo: Determinar si existe un cambio en la circulación feto-materna tras la amniocentesis mediante ultrasonografía Doppler. Métodos: Estudio de diseño prospectivo en el que se incluyeron fetos de embarazos únicos de entre 16 y 22 semanas de edad ...
Nizamettin Bozbay   +5 more
doaj   +1 more source

Pregnancy loss after amniocentesis and chorionic villus sampling: Cohort study

open access: yesSlovenian Journal of Public Health, 2020
Introduction: To estimate the procedure-related risks of pregnancy loss following chorionic villus sampling (CVS) and amniocentesis (AC) compared to pregnancies without procedure.
Likar Ivana Paljk   +4 more
doaj   +1 more source

Airway Involvement in Conradi–Hünermann–Happle Syndrome: A Novel Clinical Manifestation

open access: yesThe Laryngoscope, Volume 136, Issue 7, Page 3240-3245, July 2026.
We report the first documented case of airway involvement in Conradi–Hünermann–Happle syndrome (CDPX2), an X‐linked dominant form of chondrodysplasia punctata caused by pathogenic variants in EBP. A 2‐month‐old female with genetically confirmed CDPX2 developed severe subglottic stenosis and persistent respiratory distress requiring CPAP; cross ...
Enrique G. Villarreal   +3 more
wiley   +1 more source

Clinical Utility of Stillbirth Investigations in Australia: A Cohort Study. [PDF]

open access: yesAust N Z J Obstet Gynaecol
ABSTRACT Background Stillbirths impact over two million parents globally every year. Despite current knowledge, technology, and investigations, many stillbirths remain unexplained and are not fully investigated. An important step forward in addressing this gap is determining which investigations produce the highest utility in identifying the cause of ...
Marsden T   +22 more
europepmc   +2 more sources

La amniocentesis: indicaciones, técnica y complicaciones [PDF]

open access: yes, 1972
Se presentan los resultados de 350 amniocentesis practicadas por vía transabdominal en distintas semanas del embarazo y por variadas ...
Fernando Sanchez Torres   +1 more
core  

Risk of Congenital Toxoplasmosis in Newborns from Mothers with Documented Infection: Experience from Two Referral Centres

open access: yesPathogens
During pregnancy, primary Toxoplasma gondii infection can cause congenital toxoplasmosis (CT). We described the newborns’ outcomes from a multicentre cohort of mothers with seroconversion (SC) at different gestational ages.
Alice Bonetti   +11 more
doaj   +1 more source

Implementation of First‐Line Rapid Genome Sequencing for Children in Pediatric and Cardiac Intensive Care Units

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1326-1336, June 2026.
ABSTRACT Substantial data supports the use of rapid exome and genome sequencing (rES/rGS) in Neonatal Intensive Care Units (NICU), but fewer studies have examined the impact of rES/rGS in other pediatric critical care units. We evaluated the impact on diagnostic yield and time to diagnosis following a single‐center hospital policy change allowing ...
Alexandra C. Keefe   +22 more
wiley   +1 more source

Pregnant women's attitudes toward amniocentesis before receiving Down syndrome screening results

open access: yes, 2008
OBJECTIVES: We sought to evaluate pregnant women's knowledge about features of second-trimester screening for Down syndrome and to assess whether knowledge and educational level influence their attitude toward amniocentesis before receiving test results.
Brumini, Gordana   +5 more
core  

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