QuestionSBA
QuestionChoice
Foetal MRI is indicated in very specific cases where ultrasound findings are equivocal e.g. spina bifida, suspicious masses. In this case the ultrasound findings are common to congenital CMV infection, so testing for this is the next step.
49948
b
Foetal MRI
QuestionChoice
These are ultrasound findings common to congenital cytomegalovirus (CMV) infection, which can be tested for using amniocentesis.
49947
a
Amniocentesis
QuestionChoice
Chorionic villus sampling is performed to assess for genetic or chromosomal conditions, and is usually performed between 11 and 14 weeks of pregnancy. In this case, the pregnancy is already 20 weeks, so this is not an appropriate investigation.
49949
c
Chorionic villus sampling
QuestionChoice
Repeating the ultrasound scan in two weeks is unlikely to yield a different result. The more important issue is the diagnosis of potential CMV infection.
49950
d
Repeat ultrasound scan at 22 weeks gestation
QuestionChoice
The combined test is performed between weeks 11 and 13 of pregnancy and aims to give a risk of Down syndrome. The pregnancy is already 20 weeks, and there is no a suspicion of Down syndrome here.
49951
e
The combined test including nuchal translucency, PAPP-A hormone and beta-hCG
Concept
Chapter
Summary

Cytomegalovirus (CMV) is a member of the herpesvirus family, with a majority of the population having been infected at some point. Pregnant women infected for the first time with CMV risk transmission to the foetus, potentially causing congenital cytomegalovirus disease. Key signs and symptoms at birth include low birth weight, jaundice, microcephaly, seizures, pneumonia, and a petechial rash, though some infants may show no symptoms. Long-term consequences can include hearing loss, visual impairment, and learning disability. Antenatal diagnosis can be achieved through ultrasound detection of foetal abnormalities and amniocentesis confirmation of CMV infection, while postnatal diagnosis generally involves testing an infant's saliva, urine, or blood.


# Definition



Cytomegalovirus (CMV) is a common virus that belongs to the herpesvirus family. The majority of the population will have been infected by CMV at some point in their lives, often without showing any symptoms. Pregnant women who contract the virus for the first time during pregnancy pose a risk of transmission to the fetus, potentially leading to the development of congenital cytomegalovirus disease.


# Epidemiology



CMV is widespread, with the majority of adults having been infected by the virus at some point in their lives. Primary infection during pregnancy, however, can result in congenital infection of the foetus and potential development of congenital cytomegalovirus disease.


# Aetiology



CMV is transmitted through close contact with a person excreting the virus in their saliva, urine, or other bodily fluids. Primary infection during pregnancy can result in transmission of the virus to the foetus, potentially leading to congenital cytomegalovirus disease.


# Signs and Symptoms



Infants born with congenital cytomegalovirus disease may exhibit the following features:

- Low birth weight
- Jaundice
- Microcephaly
- Seizures
- Pneumonia
- Petechial rash

Some infants may show no symptoms at birth, while others may develop long-term neurological consequences such as hearing loss, visual impairment, and learning disability.


# Differential Diagnosis



The differential diagnosis for CMV should consider other infectious diseases that can lead to similar symptoms in infants, such as:

- Toxoplasmosis: Can also cause low birth weight, microcephaly, and jaundice, as well as eye infections and brain damage.
- Rubella: Can lead to low birth weight, microcephaly, and jaundice, as well as heart defects, cataracts, and hearing loss.
- Herpes simplex virus: Can cause seizures, jaundice, and pneumonia, as well as skin lesions and eye infections.

# Investigations


Antenatally, foetal abnormalities associated with CMV can be detected on ultrasound, and infection can be confirmed by amniocentesis. Routine screening for CMV antibodies in the mother is not currently recommended.

Postnatally, CMV infection is typically diagnosed by testing an affected infant's saliva, urine, or blood for the presence of the virus.

# Management


Management of congenital CMV infection primarily involves supportive care and monitoring for long-term neurological consequences. Antiviral therapy may be used in certain cases to prevent or treat severe disease. Further research is needed to establish the most effective treatment strategies.

# References



[Click here for RCOG guidelines on Congenital Cytomegalovirus Infection ](https://obgyn.onlinelibrary.wiley.com/doi/full/10.1111/1471-0528.14836)
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Congenital Cytomegalovirus infection
Topic
38
Obstetrics
10026
A 30-year-old woman attends for her 20-week foetal anomaly scan. The scan notes microcephaly with periventricular calcification, hyperechogenic bowel, splenomegaly and hepatomegaly.

Which of the following is the most appropriate next step in management?
a