Written by epgonline.org - Last updated 29 May 2018
The perinatal period is of high diagnostic importance – newborn infants have little physiological reserve, and are very susceptible to ill health. Signs of disease may be vague, and often require empirical treatment before a diagnosis is established. Now a relatively rare event in more economically developed countries, perinatal mortality worldwide remains a significant burden; WHO estimates from 2009 suggest there were 2.6 million stillbirths and 2.8 million deaths in the first week of life. Some of the potential problems can be picked up early by targeted, or population-wide, screening – possible diagnostic tools include ultrasound, amniocentesis, chorionic villus sampling, heel-prick, and other blood spot tests.
The conditions grouped under this topic all present within the perinatal period – defined by the WHO as between 22 weeks gestation and 1 week following live birth. These conditions can be broken down into several groups:
Infection is one of the most common causes for concern. Due to the nonspecific characteristics, sepsis can cause a rapid deterioration, and guidelines often suggest early antibiotics. Infection is often passed on via vertical transmission – some viruses cross the placenta, other pathogens may cause cross-infection during birth.
Any systemic maternal disease can potentially have consequences for the foetus and subsequently the child – renal or hepatic failure, hypertension or nutritional disorders can impact negatively. Drugs – both prescription and recreational (including alcohol) can have profoundly negative consequences for the neonate. The severity of impact is largely dependent on the stage of pregnancy at ingestion.
Errors of metabolism – hyperammonaemia, or tyrosaemia will often become apparent in this period.
There are a considerable number of disease processes of the newborn that can present shortly after delivery, with effects on different systems; gastroenterological – necrotising enterocolitis, obstruction, meconium plug, reflux; endocrine – hypocalcaemia, thyroid and parathyroid abnormalities, diabetes; abnormalities of fluid distribution – hydrops foetalis, oedema in other compartments; neurological – cerebral ischaemia, subarachnoid haemorrhage, leukomalacia; haematological – anaemia, neutropaenia, coagulopathy defects. Any system may be affected.
Also of note are the more non-specific presentations which may be reflective of numerous disease processes, or may be part of the normal spectrum of behaviours at this stage of life – examples are failure to thrive, crying, fussing and colic.