Fetal Abnormalities and Conditions

Fetal medicine encompasses the diagnosis and management of a variety of diseases and conditions that may affect the developing fetus during pregnancy. Here are some common diseases and conditions that fetal medicine specialists may encounter. For example:

• Chromosomal Abnormalities:
  • Down syndrome (Trisomy 21)
  • Edwards syndrome (Trisomy 18)
  • Patau syndrome (Trisomy 13)
  • Turner syndrome (Monosomy X)
  • Klinefelter syndrome (XXY), etc.
• Structural Abnormalities:
  • Neural tube defects (e.g., spina bifida)
  • Heart defects
  • Kidney abnormalities
  • Omphalocele & gastroschisis
  • Bladder abnormalities
  • Limb abnormalities
  • Craniofacial anomalies (e.g., cleft lip and palate), etc.
• Genetic Disorders:
  • Cystic fibrosis
  • Muscular dystrophy
  • Tay-Sachs disease
  • Thalassemia
  • Sickle cell disease
• Fetal Growth Restriction (FGR):
  • Intrauterine growth restriction (IUGR)
  • Small for gestational age (SGA) infants
• Maternal Conditions Affecting the Fetus:
  • Diabetes (pre-existing or gestational)
  • Hypertension (pre-existing or gestational)
  • Autoimmune disorders (e.g., lupus)
• Infections:
  • HIV
  • Toxoplasmosis
  • Rubella
  • Cytomegalovirus (CMV)
  • Herpes simplex virus (HSV)
  • Zika virus
• Fetal Anemia:
  • Rh incompatibility
  • Hemolytic disease of the newborn
• Placental Abnormalities:
  • Placenta previa
  • Placental abruption
  • Placental lakes
  • Mesenchymal dysplasias
  • Placental chorioangiomas
• Twin-to-Twin Transfusion Syndrome (TTTS):
  • A complication in identical twins sharing a placenta where the  blood flow is uneven between the fetuses.
• Fetal Tumors:
  • Teratomas
  • Sacrococcygeal teratoma
  • Neuroblastoma
• Fetal Arrhythmias:
  • Irregular heartbeats in the fetus
  • Congenital heart block.
• Lung and Pulmonary Disorders:
  • Congenital diaphragmatic hernia (CDH)
  •  Pulmonary sequestration
  • Congenital cystic adenoid malformations (CCAM)
• Skeletal Dysplasias:
  • Osteogenesis imperfecta
  • Achondroplasia
  • Lethal and non-lethal skeletal dysplasias
• Amniotic Fluid Disorders:
  • Polyhydramnios (excessive amniotic fluid)
  • Oligohydramnios (insufficient amniotic fluid)
• Fetal Syndromes:
  • Beckwith-Wiedemann syndrome
  • Prader-Willi syndrome
  • Angelman syndrome

Fetal medicine specialists use various diagnostic tools, such as ultrasound, genetic testing, and other imaging techniques, to identify these conditions early in pregnancy. The management involves close monitoring, medical interventions, fetal therapy, and counselling to support parents in making informed decisions about the pregnancy and future care for the child.