Airway Involvement in Conradi–Hünermann–Happle Syndrome: A Novel Clinical Manifestation
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
Iodine deficiency in the first pregnancy trimester and intelligence in adolescence. [PDF]
Keestra SM +7 more
europepmc +1 more source
ABSTRACT Limited evidence of nutritional deficiencies has been identified in bioarchaeological studies of Native California populations, although isotopic and ethnohistoric research provides evidence of regional, seasonal, and cultural variability in food shortages.
Alyson Caine +3 more
wiley +1 more source
First-Trimester Bleeding and the Risk of Pregnancy Loss in a Prospective Cohort. [PDF]
Sundermann AC +5 more
europepmc +1 more source
New PPARG Exons: Cell-Specific Expression of Their RNAs in the Human Placenta. [PDF]
Vignaud ML, Morin N, Fournier T.
europepmc +1 more source
First-trimester 3-dimensional power Doppler placental vascularization indices from the whole placenta versus the placental bed to predict preeclampsia: Does pregnancy-associated plasma protein A or uterine artery Doppler sonography help? [PDF]
Cahill, Alison G +6 more
core +2 more sources
ABSTRACT Aim In this article, we present two cases of severe fetal hemolytic anemia based on a beta‐thalassaemia trait inherited from a single parent. Results These cases, presented at 20 and 28 weeks' gestation, necessitated intra‐uterine blood transfusions.
Eva van der Meij +11 more
wiley +1 more source
Association between vaginal washing and group B Streptococcus colonization from periconception through the first trimester of pregnancy in a cohort of Kenyan women. [PDF]
Jisuvei CS +10 more
europepmc +1 more source
ABSTRACT Objective To describe the implementation of whole genome sequencing (WGS) in prenatal diagnostics and outline the national guideline system facilitating this. Methods Clinical guidelines for WGS in prenatal diagnostics were developed and implemented by the Danish Fetal Medicine Society.
Ida Vogel +17 more
wiley +1 more source
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

