Background: Intrauterine infection with rubella, cytomegalovirus (CMV)
, varicella tester virus (VZV), parvovirus B19 and human immunodeficie
ncy virus type 1 (HIV-I) may occur following maternal infection. Diagn
osis of congenital infection in the neonate is dependant on the approp
riate laboratory techniques being used. Prenatal diagnosis of intraute
rine infection may also be indicated. Herpes simplex virus (HSV), HIV-
1, VZV, enteroviruses, hepatitis B (HBV) and hepatitis C viruses (HCV)
, human T-cell lymphotropic viruses (HTLV-1 and 2) and genital papillo
maviruses (PVs) may be acquired at delivery. Neonatal HSV, VZV and ent
erovirus infections may be severe or even fatal. Perinatally acquired
HBV, HCV, HIV-I and HTLVs are associated with persistent infection and
chronic disease in later life. However, if the mother is identified a
s a carrier in the antenatal period, mother-infant transmission of HBV
may be prevented by active/passive immunisation of the neonate, HIV-I
by caesarian section or antiviral therapy, and of HTLV-1 by avoiding
breast feeding. Objectives and study design: To review the techniques
available for the diagnosis of intrauterine infections, neonatal infec
tions with HSV, HIV-1, VZV and enteroviruses, maternal infection with
HBV, HCV and HIV-I and prenatal diagnosis of intrauterine rubella, CMV
and B19. Results: Congenital rubella may be diagnosed by detection of
specific IgM, but virus detection is the technique of choice for cong
enital cytomegalovirus. Congenital VZV may be diagnosed by serological
techniques in up to 71%, of cases. Detection of virus in vesicle scra
pings or swabs from the oropharynx is the technique of choice for neon
atal HSV, while enterovirus infections are best diagnosed by detection
of viral RNA. A clinical diagnosis of congenital VZV is often possibl
e. HIV-1 may be diagnosed within 3 months of birth by testing serial b
lood samples with a combination of techniques. Maternal infection with
HBV, HCV, HIV and HTLV1/11 may be diagnosed by serological techniques
and genital PVs by detection of viral DNA. Chorionic villus samples,
amniotic fluid and fetal blood may be obtained for prenatal diagnosis
of infection. Although detection of virus in amniotic fluid is the tec
hnique of choice for prenatal diagnosis of CMV, insufficient data is c
urrently available to determine whether it may be used for intrauterin
e rubella. The most reliable technique for diagnosis of fetal B19 infe
ction is detection of viral DNA in fetal blood. Conclusions: Close lia
ison between clinicians and microbiologists/virologists is required in
order that appropriate specimens are collected from infant and/or mot
her and appropriate tests conducted. The use of TORCH screening should
be discouraged.