Prenatal Genetic and Metabolic Testing and Screening
Unborn babies with congenital anomalies have an increased risk for an underlying genetic syndrome. That’ s why genetic counseling is a part of all new patient visits at the Colorado Fetal Care Center. Our genetic counselors work with families and the care team to order and interpret genetic testing when a genetic syndrome may be a possibility.
Patients who deliver a baby with a known genetic disorder can follow up with pediatric genetics shortly after delivery, while still in our Neonatal Intensive Care Unit. From there, Children’ s Colorado offers an array of clinics devoted to specific genetic syndromes, including 22q11.2 deletion syndrome, Down syndrome, sex chromosome aneuploidies, neurogenetics, pediatric genetics, skeletal dysplasia and many others. Many of these clinics provide prenatal consults, offering a seamless transition between pre- and postnatal care.
We offer all available genetic testing options, from routine screening to complex diagnostic chromosomal microarray and syndrome-specific sequencing panels. We also have embraced new technology such as prenatal whole exome sequencing and genome-wide cfDNA screening, as well as cfDNA screening for single gene disorders.
Screening tests
• cfDNA
• Common aneuploidies
• Genome-wide
• Single gene disorders
• Carrier screening
• Cystic fibrosis
• Spinal muscular atrophy
• Fragile X syndrome
• Expanded carrier screening
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