Attitudes of Argentinean Neonatologists toward Resuscitation of Infants with Trisomies 21, 18, and 13: A Multicenter Survey.

OBJECTIVE: This study was aimed to explore the attitude of Argentinean neonatologists in the delivery room on resuscitating infants with trisomies. STUDY DESIGN: An anonymous questionnaire was completed by neonatologists staffing level-III neonatal intensive care units (NICUs) on resuscitation of children with trisomies 21, 18, and 13. Potential sociocultural factors influencing the decision to resuscitate were included. RESULTS: Overall, 314 neonatologists in 34 units in the Buenos Aires region participated (response rate of 54%). The position of neonatologists regarding the resuscitation in the delivery room was that 98% would resuscitate newborns with trisomy 21, and 47% with trisomy 18 or trisomy 13. Resuscitation of newborns with trisomy 18 or trisomy 13 by neonatologists was significantly associated with working in the public sector, religious beliefs, and legal framework. CONCLUSION: With improvement in the management and treatment of infants with trisomies 18 and 13, Argentinean neonatologists showed a favorable attitude toward resuscitating them in the delivery room. KEY POINTS: · We explored the attitudes of Argentinean neonatologists on resuscitation of children with trisomies.. · Half of neonatologists would resuscitate newborns with trisomies18 and 13.. · These results suggest an ongoing paradigm shift of the most severe trisomies..

Prenatal genetic considerations in congenital ventriculomegaly and hydrocephalus.

BACKGROUND: Fetal ventriculomegaly (VM) is a frequent finding in prenatal ultrasound. Rather than a proper diagnosis, VM is a sonographic sign, making prenatal counseling a complex and challenging undertaking. VM can range from severe pathologic processes leading to severe neurodevelopmental delay to normal variants. DISCUSSION: A growing number of genetic conditions with different pathophysiological mechanisms, inheritance patterns, and long-term prognosis have been associated both to isolated and complex fetal VM. These include chromosomal abnormalities, copy number variants, and several single gene diseases. In this review, we describe some of the most common genetic conditions associated with fetal VM and provide a simplified diagnostic workflow for the clinician.