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Prenatal Diagnosis Unit

Prenatal Diagnosis Unit

At the Prenatal Diagnosis Unit (UPD) we detect the existence of congenital defects, disorders or malformations that the foetus may show as it develops, as early as possible. Depending on each case, and always on an individual basis, we advise families during the various stages of the pregnancy and help them to make decisions.

Description

Up to 3% of newborns may have some kind of congenital anomaly or defect. These disorders may be structural or functional, familiar or sporadic, hereditary or not, and may occur in low risk as well as high risk pregnancies for various reasons:

  • Consanguinity, the blood relationship between two people
  • Family history of some hereditary illness
  • History of a complicated pregnancy with a malformation in the future baby
  • Isoimmunisation, production of antibodies by the mother which may cause anaemia in the foetus
  • Exposure to external factors, such as radiation, infections or consumption of medicines which may have a prejudicial effect on the future baby

In these cases, the pregnancy is monitored much more closely, so that the appearance of any anomaly is detected as soon as possible. 

The following tools are used:

  • Obstetric ultrasound: throughout the pregnancy to detect anomalies in the foetus and also changes to the chromosomes. 
  • Screening for chromosome defects:
    - Conventional screening: these tests include an ultrasound and a blood test on the mother to rule out chromosome anomalies, such as Down's syndrome, or a congenital heart defect. 
    Advanced screening: DNI study of the future baby in the mother’s blood
  • Invasive testing: if there is a risk factor, these tests are carried out to confirm or rule out possible anomalies in the future baby. This consists of genetic, microbiological, immunological, haematological and biochemical analysis. As these are more complicated techniques, families are always given detailed information about how they work.

We tare active in all stages of the pregnancy: 

  • Before conception
  • At the start of an at-risk pregnancy
  • When a defect is diagnosed in the future baby. Then we assist you through: 
    - The prognosis
    - The potential for treatment

Diseases related to this speciality

  •  Infections with a risk of vertical transmission
    - Rubella
    - Chickenpox
    - CMV
    - PVB19
    - Toxoplasma (parasite)
  • Isoimmunisation 

Health advice related to this speciality 

  • General hygiene measures to prevent infections during pregnancy.
  • Sleep on your side, to prevent the future baby dying.

 

Treatments related to this speciality

  • Intrauterine foetal transfusion, in the event of foetal anaemia
  • Legal termination of the pregnancy

 

Diagnostic tests related to this speciality

  • Screening for chromosome defects:
    - Conventional
    - Advanced: DNI study of the future baby in the mother’s blood
  • Chorionic biopsy
  • Amniocentesis
  • Cordocentesis

 

Departments related to this speciality:

We work very closely with the following units:

 

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