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NICU AUDIT . e.y . P reterm via normal spontaneous delivery 2 9 year old G1P1 (0101) 32 6/7 weeks AOG, MT 34 AGA Apgar 8, 9 (H 90’s). BW 1930 g BL 44 cm HC 30 cm CC 27 1/2 cm AC 23 cm. Maternal history. 1 st Trimester – threatened abortion
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e.y. • Preterm via normal spontaneous delivery • 29 year old G1P1 (0101) • 32 6/7 weeks AOG, MT 34 AGA • Apgar 8, 9 (H 90’s) • BW 1930 g • BL 44 cm • HC 30 cm • CC 27 1/2 cm • AC 23 cm
Maternal history • 1st Trimester – threatened abortion • Consult: Dihydrogesterone and Isoxuprine • 3rd Trimester- Upper respiratory tract infectiom • Consult: Cefuroxime
Past Medical History: • (+) Bronchial asthma since childhood, no maintenance medications, last attack: 2010 • Ganglion cyst, left hand; s/p excision in 2000 • Family History: • Diabetes, Hypertension, Asthma • Personal/Social History • Unremarkable • OB History: • G1 – present pregnancy • Feeding history • Mixed feeding, expressed breastmilk+milk formula
Physical findings • 1 cord coil • Flat fontanels • No molding, caput • Microtia, right ear • Hematoma, upper lip • No cleft lip or palate • (-) alar flaring • Good air entry, no retractions • HR 90bpm to 110bpm, Good cardiac activity, • Soft abdomen • Grossly male genitalia with descending testes • Full pulses
DIAGNOSIS LIVE PRETERM BABY GIRL SEPSIS UNSPECIFIED MICROTIA, RIGHT EAR
PLAN • Diagnostics: CBC PC, Blood culture and sensitivity, HGT • Therapeutics: • UV cannulation • D10W 100ml to run at 6.4mk/hr (TFR 80mg/kg/day) • Vitamin K 0.1mL/IM • Erythromycin eye ointment • Hepatitis B vaccine 0.5mL/IM • IV antibiotics: • Amikacin 34mg q36hrs (17.6 mg/kg/day) • Ampicillin 100mg q12hrs (103.6 mg/kg/day)
HGT= 95mg/dl Abdominal X-ray (12/30): umbilical catheter directed superoposteriorly with its tip at the level of T10. Ileus.
Blood culture: No growth in 7 days Abdominal X-ray (12/30): umbilical catheter directed superoposteriorly with its tip at the level of T10. Ileus.
Blood culture: No growth in 7 days Abdominal X-ray (12/30): umbilical catheter directed superoposteriorly with its tip at the level of T10. Ileus.
Blood culture: No growth in 7 days Abdominal X-ray (12/30): umbilical catheter directed superoposteriorly with its tip at the level of T10. Ileus.
Blood culture: No growth in 7 days Abdominal X-ray (12/30): umbilical catheter directed superoposteriorly with its tip at the level of T10. Ileus.
Working diagnosis • Live preterm baby boy, delivered via normal spontaneous delivery at 32 6/7 weeks AOG, MT 34 weeks, AGA, AS 8,9 • Sepsis unspecified • Hyperbilirubinemia unspecified • Microtia, right ear
Microtia • a congenital anomaly of the ear that ranges in severity from mild structural abnormalities to complete absence of the ear • can occur as an isolated birth defect or as part of a spectrum of anomalies or a syndrome • often associated with hearing loss • hearing impairment and surgical ear reconstruction Luquetti, D., Heike, C., Hing, A. , Cunningham, M., Cox, T. Microtia: Epidemiology & Genetics. American Journal of Medical Genetics. 2012 January ; 158A(1): 124–139.
Microtia: prevalence • prevalence varies among regions, from 0.83 to 17.4 per 10,000 births • considered to be higher in Hispanics, Asians, Native Americans • Males > Females: estimated 20-40% increased risk • Unilateral: 77–93% (right) Luquetti, D., Heike, C., Hing, A. , Cunningham, M., Cox, T. Microtia: Epidemiology & Genetics. American Journal of MedicalGenetics. 2012 January ; 158A(1): 124–139.
Microtia: risk factors • low birth weight • higher maternal parity • maternal acute illness and use of medications (specific acute maternal conditions or medications were not identified in these studies) • maternal diabetes mellitus • Multiple births, advanced maternal age, low maternal education and Hispanic ethnicity • periconceptionalintake of folic-acid-containing supplements has been associated with reduced risk of microtia among non-obese women [Ma et al., 2010] Luquetti, D., Heike, C., Hing, A. , Cunningham, M., Cox, T. Microtia: Epidemiology & Genetics. American Journal of Medical Genetics. 2012 January ; 158A(1): 124–139.
Microtia: risk factors reported in literature • General • Male sex all authors • First parity • High parity • Multiple births • Maternal acute illnesses • Maternal insulin dependent diabetes • Maternal use of medications • Advanced paternal age • Advanced maternal age • Low maternal education • Maternal exposure to altitude • Maternal residence in an urban area • Maternal residence in a rural area • Maternal exposure to air pollution • Race/Ethnicity • Native ethnicity Hispanic ethnicity Ecuadorian • Chilean • Asian, Philippine, Pacific Islander • Teratogens • Retinoic acid • Thalidomide • Alcohol • Mycophenolatemofetil Luquetti, D., Heike, C., Hing, A. , Cunningham, M., Cox, T. Microtia: Epidemiology & Genetics. American Journal of Medical Genetics. 2012 January ; 158A(1): 124–139.
Microtia: classification system • Microtia, First Degree • Presence of all the normal ear components • median longitudinal length > 2 SD below the mean • Microtia, Second Degree • Median longitudinal length of the ear > 2 SD below the mean in the presence of some, but not all, parts of the normal ear • Microtia, Third Degree • Presence of some auricular structures, but none of these structures conforms to recognized ear components. • Anotia • Complete absence of the ear. Hunter A, Frias JL, Gillessen-Kaesbach G, Hughes H, Jones KL, Wilson L. Elements of morphology: standard terminology for the ear. Am J Med Genet A. 2009a; 149A(1):40–60.
Microtia: associated anomalies • vertebral anomalies • macrostomia • oral clefts • facial asymmetry • renal abnormalities • cardiac defects • microphthalmia • holoprosencephaly, and polydactyly Luquetti, D., Heike, C., Hing, A. , Cunningham, M., Cox, T. Microtia: Epidemiology & Genetics. American Journal of Medical Genetics. 2012 January ; 158A(1): 124–139.
Microtia: syndromes • Approximately 20-60%: have associated anomalies or an identifiable syndrome • Craniofacial microsomia • Townes-Brocks syndrome • Mandibulofacialdysostoses • Treacher-Collins • Nager syndrome • Oculo-auriculo-vertebral spectrum (OAVS): facial asymmetry, microtia, ear and facial tags, epibulbardermoids, microphthalmia, and macrostomia. [Heike and Hing,2009] • Craniofacial, or hemifacial, microsomia and Goldenharsyndrome • Extracranialfeatures include renal, cardiac and vertebral anomalies. • Most cases: sporadic, but may be genetic (autosomal>recessive) Luquetti, D., Heike, C., Hing, A. , Cunningham, M., Cox, T. Microtia: Epidemiology & Genetics. American Journal of Medical Genetics. 2012 January ; 158A(1): 124–139.
Craniofacial microsomia • hemifacialmicrosomia, oculo-auriculo-vertebral spectrum, or first and second branchial arch syndrome • approximately 1 in 5500 live births • sporadically acquired association of anomalies: defect in the 1st and 2nd branchialarches (usually vascular insult) • 85-90% unilateral (right) • orbital distortion, mandibular hypoplasia • ear anomalies (microtia, accessory preauricular tags and/or pits, and middle ear defects with hearing impairment) • facial nerve involvement (hypoplasia of the facial muscles) • soft tissue deficiency, such as profound hypoplasia or absence of the parotid gland and masticatory muscles (temporalis, masseter) • Surgical correction: • Preauricular skin tags removed and correction of craniooralcomissure before 2yrs of age • Cranial remodeling at 8-12mos
Townes-brocks syndrome • Autosomal dominant • Triad • Imperforate anus (82%) • Dysplastic ears (88%) (overfolded superior helices and preauricular tags)associated w/ sensorineural or conductive hearing impairment (65%) • Thumb malformations (89%) (triphalangeal thumbs, duplication, or rarely, thumb hypoplasia) • Renal impairment (27%), including ESRD may occur w/ or w/o structural abnormalities (malrotation, ectopia, renal hypoplasia, etc) • Congenital heart disease (25%) • Foot (52%) and genitourinary malformations (36%) • Management: Surgical, hemodialysis Kohlhase, J. 2012, May3. Townes-Brocks syndrome. Gene Reviews (extracted from www.ncbi.nlm.nih.gov/books/NBK1445)
TREACHER COLLINS SYNDROME • mandibulofacialdysostosis • autosomal dominant disorder of craniofacial development • 1 in 25,000 to 50,000 live births • Clinical features: malar hypoplasia and a cleft in the zygoma, eyes with antimongoloid slant with colobomas (eyelid notch) along the lateral 1/3 of the lower lid; absent lashes from the medial two-thirds of the lower eyelid: face has a convex profile with a retrusive chin and jaw, associated with an overbite • External ear abnormalities • Profound conductive hearing loss: common in severe cases • left lip and palate and choanalatresia Dixon J, Trainor P, Dixon MJ. Treacher Collins syndrome. OrthodCraniofac Res 2007; 10:88.
TREACHER COLLINS SYNDROME: Surgical management • can result in airway narrowing and respiratory compromise • with airway and feeding difficulties: first couple years of life • tongue-lip adhesion (glossopexy), distraction osteogenesis of the mandible, tracheostomy, correction of cleft lip and/or palate and choanal atresia, and gastrostomy tube placement • facial abnormalities: 7yrs-old • surgical correction of the mandible: at 13 to 16 year-old, as the jaw reaches dental and skeletal maturity
Nager SYNDROME • Acrofacialdysostosissyndrome • rare disorder, sporadic> genetic • similar to Treacher-Collins but w/o eyelid colobomas • severe cleft palate (wide defect): always present • hypoplasia or agenesis of the radius and thumb • short stature • normal Intelligence; delays in speech and language development may occur secondary to hearing impairment • frequently have respiratory and feeding problems: may require gavage feeding or gastrostomy tube placement • High perinatal mortality rate (approximately 11%): related to respiratory compromise