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%)
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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 |
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