2020 Colorado Fetal Care Center 2020 - Page 20

Diagnostic tests
• FISH
• Karyotype
• Microarray
• Single-gene sequencing
• Multi-gene sequencing
• Whole exome sequencing
For families who choose not to pursue prenatal diagnostic testing or for babies born without a prenatal diagnosis , Children ’ s Colorado offers an on-call team of genetic and metabolic physicians , nurses , dietitians and a genetic counselor who can coordinate postnatal genetic evaluation . This team provides some of the most comprehensive and rapid genetic tests available , including rapid whole genome sequencing . If a genetic diagnosis is established , this information can help guide care . If a genetic diagnosis is not identified , the team remains available to help coordinate further testing or future follow-up .
Genetic diagnoses ( 2019-2020 )
• Turner syndrome
• Down syndrome
• Trisomy 18
• Trisomy 13
• Achondroplasia
• Tuberous sclerosis complex
• Noonan syndrome
• Tetrasomy 18p
• Osteogenesis imperfecta
• Tetrasomy 9p
• Pallister-Killian syndrome
• Cri-du-Chat syndrome
• VACTERL association
• 22q11.2 deletion syndrome
• L1CAM associated hydrocephalus
• Chromosomal deletions and duplications
2020 Overview and Outcomes | 11
FETAL CONDITIONS Twin-twin transfusion syndrome (TTTS) Myelomeningocele (MMC) Outcomes (Jan. 2012 - June 2020) Solomon Group (n=137 women, 274 fetuses) Children’s Colorado Group (n= 327 women, 600 fetuses) Overall survival 203/274 (74%) 472/600 (79%) At least one surviving neonate 116/137 (85%) 273/327 (91%) Double survival 87/137 (64%) 199/327 (66%) 6/137 (4%) 9/327 (3%) TAPS or reoccurring TTTS 330+ 91% 66.3% Total SLFPs Survival for at least one twin Survival for both twins Congenital diaphragmatic hernia (CDH) 130+ 82% Total patients treated since 2012 Percentage of deliveries on-site in 2020 81% 23% Patient survival rate in 2020 ECMO utilization rate in 2020 (lower than the national average, with higher survival) 20 | Colorado Fetal Care Center 183 90 133 Total prenatal MMC evaluations Fetal MMC surgeries Babies with MMC delivered at our Labor and Delivery Unit (Jan. 2012 - June 2020) Delivery Outcomes Dehiscense at repair site Shunt at one year Delivery at Children’s Colorado Children’s Colorado n=66 MOMS Trial n=78 6/66 (9%) 10/77 (13%) 28/66 (42.42%) 31/78 (40%) 24 Postop length of stay 4.76 +/-2.05 NR Hysterotomy at delivery (intact) 51/53 (96%) 49/76 (64%) 2/53 (4%) 19/76 (25%) PPROM 21/66 (32%) 36/78 (46%) Gestational age, weeks 32.22 +/-3.26 34.1±3.1 Children’s Colorado MOMS Trial Maternal age, years 28.18 +/- 4.97 29.3 +/-5.3 Gestational age, weeks 24.24 +/- 0.9 24.0 Body mass index, kg/m2 27.20 +/- 5.73 26.2 +/- 3.7 Hysterotomy at delivery (thin) (Jan. 2012 - June 2020) Patient Characteristics at Time of Repair 2020 Overview and Outcomes | 21