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Published on: October 20, 2019
[Triploidy: prompt diagnosis based on typical clinical signs in a live-born extremely low birth-weight infant]
E Kühlwein1, D Steinbach, G Barbi
1Sektion Neonatologie und pädiatrische Intensivmedizin der Klinik für Kinder- und Jugendmedizin, Universitätsklinikum Ulm.
Insights
Complete triploidy is rare in live births, but advances in perinatal medicine mean extremely preterm infants receive intensive care. This case highlights diagnosing triploidy in dysmorphic preterm infants, even the smallest ones.
Area of Science:
- Perinatology
- Clinical Genetics
- Neonatology
Background:
- Complete triploidy is a rare chromosomal abnormality with a low survival rate.
- Advances in neonatal intensive care (NICU) permit support for extremely premature infants.
- Dysmorphic features in preterm infants may indicate underlying genetic conditions like triploidy.
Observation:
- Report of the smallest live-born infant diagnosed with complete triploidy (25 + 5 weeks gestational age).
- The infant presented with typical clinical findings consistent with complete triploidy phenotype II.
- Photographic documentation and literature review are provided to illustrate the case.
Findings:
- Successful diagnosis of complete triploidy in an extremely premature infant.
- Demonstration of typical phenotypic features of complete triploidy in a neonate.
- Highlighting the importance of considering triploidy in dysmorphic preterm infants.
Implications:
- Awareness among neonatologists regarding triploidy in extremely preterm infants is crucial.
- Prompt diagnosis via chromosome analysis aids clinical decision-making regarding life support.
- Facilitates informed discussions between medical teams and parents about prognosis and care.
Abstract:
A child with complete triploidy is rarely born alive. However, owing to the advances in perinatal medicine even extremely immature preterm infants receive full support in the delivery room and are admitted to the neonatal ICU. Consequently, the clinician may also have to consider the diagnosis of triploidy when faced with a dysmorphic extremely preterm infant. We report here the smallest described live born girl of 25 + 5 weeks of gestational age with typical clinical findings of complete triploidy phenotype II. The aim of the case report is to make the neonatologist aware of this syndrome using photographs of this case as well as discussing the literature available. Prompt clinical diagnosis confirmed by chromosome analysis helps doctors and parents with the decision whether to continue promising or to limit futile life support measures.
