Congenital complete arhinia with alobar holoprosencephaly.

Congenital arhinia is a life-threatening, rare craniofacial disorder, which, when not identified and managed early can cause severe respiratory distress at birth due to upper airway obstruction. Since neonates are obligate nasal breathers, simultaneous sucking and breathing requirement in neonates with arhinia leads to respiratory distress. Inspiration and expiration through the oral passage alone may result in thoracic retraction, thereby further exacerbating respiratory distress.

Whole-genome sequencing reveals de-novo mutations associated with nonsyndromic cleft lip/palate.

The majority (85%) of nonsyndromic cleft lip with or without cleft palate (nsCL/P) cases occur sporadically, suggesting a role for de novo mutations (DNMs) in the etiology of nsCL/P. To identify high impact protein-altering DNMs that contribute to the risk of nsCL/P, we conducted whole-genome sequencing (WGS) analyses in 130 African case-parent trios (affected probands and unaffected parents). We identified 162 high confidence protein-altering DNMs some of which are based on available evidence, contribute to the risk of nsCL/P.

Perspectives on Resuscitation Decisions at the Margin of Viability among Specialist Newborn Care Providers in Ghana and Ethiopia: A Qualitative Analysis.

Background: In high income countries, guidelines exist recommending gestational age thresholds for offering and obligating neonatal resuscitation for extremely preterm infants. In low- and middle- income countries, this approach may be impractical due to limited/inconsistent resource availability and challenges in gestational dating. Scant literature exists on how clinicians in these settings conceptualize viability or make resuscitation decisions for premature infants.

Timing of initiation of breastfeeding and its determinants at a tertiary hospital in Ghana: a cross-sectional study.

Background: Early initiation of breastfeeding (EIBF), breastfeeding within first hour after birth, is known to have major benefits for both the mother and newborn. EIBF rates, however, tends to vary between and within countries. This study set out to determine the prevalence of EIBF at the Komfo Anokye Teaching Hospital (KATH), Kumasi, Ghana, and to evaluate the determinants of EIBF and time to initiation of breastfeeding.