Foetal Medicine

Foetal Medicine

Foetal medicine includes the assessment of foetal growth and wellbeing, the maintenance of foetal health, the diagnosis of foetal illnesses and abnormalities and treatment of the “unborn patient”. Our capability to diagnose problems before birth has improved through state-of-the-art prenatal diagnosis techniques giving patients better chance of wellbeing. Our ultrasound scans are performed to the highest standards and are backed up with informative and sensitive counseling by maternal-foetal medicine specialists and geneticists. Foetal medicine team includes obstetricians, perinatologists (also called maternal-foetal medicine specialists), neonatologists, pediatric cardiologists, pediatric surgical specialists, geneticists and others.

Our services are divided in two parts; prenatal diagnosis and foetal treatment.

1.Prenatal diagnosis

Prenatal diagnosis is the ability to detect abnormal conditions of the fetus (and to differentiate them from normal foetal development). The most common test used for prenatal diagnosis is ultrasound. Other modalities include non-invasive and invasive screening and diagnostic studies:

  • Screening studies are relatively simple and inexpensive tests aimed at detecting most cases of a particular anomaly within a relatively large “at risk” population. Examples are screening for spina bifida and Down syndrome:
    • MSAFP (maternal serum alpha-fetoprotein): The presence of AFP, a plasma protein normally produced by the fetus, in the mother’s blood. The MSAFP serves as the basis for some valuable tests. During pregnancy, AFP crosses the placenta from the foetal circulation and appears in the mother’s blood. The level of AFP in the mother’s blood (the maternal serum AFP) provides a screening test for a number of disorders including:
      • Open neural tube defects (anencephaly and spina bifida); and
      • Down syndrome (and other chromosome abnormalities).
  • Nuchal translucency :
    • A nuchal scan (NT procedure) is a sonographic prenatal screening scan (ultrasound) to detect cardiovascular abnormalities in a fetus. Nuchal translucency is a distinct finding on ultrasound examination of the foetal neck, which may suggest the possibility of Down syndrome.
    • A nuchal translucency scan is used as a screening, rather than diagnostic, tool for conditions such as Down syndrome. However, increased nuchal translucency measurements are also associated with non-chromosomal abnormalities such as genetic conditions (e.g. Di George syndrome) and non-genetic ones (e.g. Body-stalk anomaly). The scan is carried out at 11–13+6 week’s pregnancy and assesses the quantity of fluid collecting within the nape of the foetal neck.
  • The quadruple marker test is a maternal blood screening test that looks for four specific substances: AFP, HCG, Estriol, and Inhibin-A.
    • AFP: alpha-fetoprotein is a protein that is produced by the fetus
    • hCG: human chorionic gonadotropin is a hormone produced within the placenta
    • Estriol: Estriol is an estrogen produced by both the fetus and the placenta
    • Inhibin-A: inhibin-A is a protein produced by the placenta and ovaries
  • Non-invasive diagnostic tests include:
    • Maternal blood tests for specific conditions, or Noninvasive prenatal test
    • Two, three and four-dimensional ultrasound
      • Viability scan-at 6-10 weeks of pregnancy.
      • Nuchal scan-from 11 weeks to 13 weeks and six days
      • Anomaly scan-at 20-24 weeks of pregnancy
      • Cardiac scan-During the nuchal scan (11-13 weeks), the anomaly scan (20-24 weeks) and wellbeing scan (30-34 weeks) we routinely examine the foetal heart and connecting blood vessels.
      • Cervical scan-a transvaginal scan to measure the length of the cervix.
      • Wellbeing scan-at about 32 weeks of pregnancy

Four-dimensional ultrasound

  • Doppler ultrasound
  • Foetal Echocardiography
  • Cardiotocography
  • Magnetic resonance imaging (MRI)
  • Doppler ultrasound of utero placento foetal circulation
  • MRI of the fetus

The most common invasive tests are:

    • Amniocentesis: Amniocentesis involves the examination of cells in the fluid from around the fetus (amniotic fluid). The cells in the amniotic fluid originate from the baby and so the chromosomes present in these cells are the same as those of the baby.
    • Chorion villus sampling: Chorion villus sampling (CVS) involves the examination of chorionic villi (placental tissue). Both the baby and placenta (afterbirth) originate from the same cell and so the chromosomes present in the cells of the placenta are the same as those of the baby.
    • Umbilical cord sampling (cordocentesis, percutaneous umbilical blood sampling  or PUBS)

2. Foetal Therapy

A therapeutic intervention for the purpose of correcting or treating a foetal anomaly or condition is called foetal therapy.

Types of therapy

  • Pharmacological therapy
    • Prevention of neural tube defects:
      • All the women planning a pregnancy should be given folic acid in dose 0.4 mg/day for at least one month.
      • Women with a prior child with NTD should receive folic acid 4 mg/day for at least one month preconceptually and three months after the pregnancy
    • Prevention of HMD in preterm neonates
    • Therapeutic pharmacotherapy for
      • Cardiac arrhythmia
      • PSVT
      • Atrial flutter and fibrillation
      • Ventricular tachycardia
    • Invasive foetal therapy :Intrauterine blood transfusion
    • Surgical therapy: Foetal reduction