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[Defects in the prostaglandin system. IV. Inborn, nonfamilial plasma factor deficiency]
Wiener Klinische Wochenschrift
|September 27, 1985
Insights
Four infants were found with complete plasma factor deficiency during routine screening. Despite this, all babies remain healthy, with further follow-up needed to assess long-term health risks.
Area of Science:
- Pediatric Hematology
- Clinical Genetics
- Neonatal Screening
Context:
- Routine screening of 143 newborn infants identified rare cases of complete plasma factor deficiency.
- The deficiency was observed in 4 infants, with unaffected relatives indicating a potential de novo occurrence or recessive inheritance pattern.
- Current health status of affected infants is good, with no immediate complications noted.
Purpose:
- To report the incidence of complete plasma factor deficiency in a newborn population.
- To highlight the importance of neonatal screening for coagulation disorders.
- To establish a cohort for long-term follow-up regarding potential health implications.
Summary:
- Complete plasma factor deficiency was identified in 4 out of 143 screened newborns.
- Affected infants and their families showed no prior history or other affected members, suggesting novel or recessive genetic factors.
- All diagnosed infants are currently healthy and asymptomatic.
Impact:
- This finding underscores the potential for asymptomatic congenital coagulation factor deficiencies at birth.
- Long-term monitoring of these infants is crucial to determine if this deficiency increases susceptibility to bleeding disorders or other hemostatic imbalances.
- Contributes to understanding the spectrum of inherited bleeding disorders and their clinical presentation.
Abstract:
On routine screening of 143 newborn infants, complete plasma factor deficiency was discovered in 4 cases. All the relatives, however, exhibited normal plasma factor activity. Up to now all 4 babies are healthy. Long-term follow up should clarify whether an inborn plasma factor deficiency might predispose to diseases accompanied by haemostatic imbalance.