​​​​​​​Prenatal Diagnosis

Dr. Cheng with high risk OB patientThe UW Medicine Prenatal Diagnosis, Perinatal Genetics and Fetal Therapy Program provides comprehensive prenatal screening and fetal diagnostic testing. Our goal is to help parents understand their chances of having a child with health problems, and the variety of genetic testing options available to them, so they can make informed decisions about their pregnancies.

Your doctor may ref​er you to our program if any of the following conditions apply:
  • You had a blood test that suggests a higher chance of Down syndrome, spina bifida, or trisomy 18.
  • You had an ultrasound that shows possible fetal abnormalities.
  • You (or the baby’s father) have had a child with a genetic condition such as Down syndrome.
  • You (or the baby’s father) have family members with a hereditary condition, like cystic fibrosis or hemophilia.
  • You (or the baby’s father) have had a child with spina bifida (neural tube defect), heart defect, or other difference in anatomy.
  • You (or the baby’s father) are a carrier for a hereditary condition, such as cystic fibrosis, Tay-Sachs disease, sickle cell anemia or thalassemia.
  • You (or the baby’s father) have a unique arrangement of chromosomes.
  • You have taken a medicine that increases the chance of having a child with health problems.
To schedule an appointment, call 206-598-4072. If you are a referring provider and need assistance, contact the UW Medical Center Perinatal Services Physician Liaison, Enedina Dumas, at edumas@uw.edu or 206-598-1944.

The program provides a full range of services, including the following:
  • High-resolution ultrasound with nuchal translucency measurement and fetal anat​omy evaluation
  • Genetic counseling
  • Consultation with a high-risk obstetrician and a geneticist
  • Amniocentesis
  • Chorionic villus sampling
  • Cell-free DNA aneuploidy screening (such as MaterniT21™ Plus, Verify™, and Harmony™ tests)
  • Integrated screening
  • Fetal echocardiogram
  • Fetal MRI​
  • Preimplantation genetic diagnosis (in partnership with University​ Reproductive Care)
  • In utero fetal blood transfusions
  • EXIT procedures (Ex utero intrapartum treatment procedure) for fetal airway obstructive condition
  • Treatment of fetal cardiac arrhythmias
Detecting a fetal health problem before birth makes it possible to investigate treatment options and allows you to make the best preparations for the birth of your child. Our high-risk obstetricians, pediatricians, surgeons, nurses, social workers, radiologists, ultrasound technicians, and genetic counselors have expertise in many fetal conditions that may be diagnosed before birth, including the following:
  • Abdominal wall defects (e.g., gastroschisis and omphalocele)
  • Brain malformations (e.g., Dandy-Walker malformation, Arnold-Chiari malformation)
  • Heart defects (e.g., double outlet right ventricle, hypoplastic left heart syndrome, tetralogy of Fallot, truncus arteriosus, ventricular septal defect, transposition of the great arteries, AV canal defect)
  • Heart rhythm abnormalities
  • Cleft lip and palate
  • Diaphragmatic hernia
  • Intestinal development abnormalities (e.g., intestinal atresia)
  • Lung abnormalities (e.g., congenital pulmonary airway malformations or CPAM)
  • Neck masses
  • Skeletal defects (e.g., club foot, dwarfism)
  • Spina bifida and other neural tube defects
  • Urologic defects (e.g., abnormalities of the bladder, kidneys or ureters)
Our team also provides complete pregnancy care for women whose babies need to be delivered in a hospital by high-risk specialists. In these cases, we work with our expert partners in pediatrics from Seattle Children’s Hospital to give your entire family continuous, well-coordinated treatment throughout the pregnancy and afterward.