1. + BABY AD

2. + Identifying data Newborn male Filipino Born on Nov 19, 2013 via scheduled repeat CS

3. + Birth History Born full term 45 year old G3P2 (3012) 38 6/7 weeks age of gestation based on LMP 38 weeks by MT, AGA AS 9, 9 BW 2860 grams BL 46 cm HC 34 cm CC 30 cm AC 30 cm

4. + Maternal history >7 prenatal check ups UTI 1 st trimester; treated with Cefalexin for 7 days No fever, no rashes Regular intake of ferrous sulfate and multivitamins Maternal blood type: A+ HbsAg nonreactive OGCT normal CBC and urinalysis were not done

5. + Maternal Past Medical History No Diabetes No Hypertension No asthma or allergy

6. + Family History (+) Diabetes Mellitus- maternal (-) Hypertension (-) Congenital Anomalies

7. + Pedigree Chart

8. + OB-GYN History G1- 2010 spontaneous abortion; s/p D&C G2- 2011 live full term male PCS for fetal macrosomia and elderly primigravid, 9 lbs 2 ounces, TMC G3 – Present pregnancy

9. + Delivery Clear amniotic Fluid (+) Low set ears (-) Cleft lip/Cleft palate Good air entry Good cardiac tone, HR 150 Grossly male genitalia Extended scrotal skin over the penis

10. + Stay at the NICU Subjective 13th hour of life Given milk formula (Tolerates 5- 10 ml) Active (+) urine output (+) 2 meconium passage Objective T – 36.7  C HR 120 bpm RR 50 cpm (+) Light jaundice to chest Low set ears Good air entry Good cardiac tone, no murmurs Soft abdomen Scrotal skin over penis Full pulses Assessment Term Baby Boy Plan For bilirubin levels Single phototherapy Referral to urologist Referral to geneticist

11. + Course in the NICU Subjective 27 th hour of life Tolerates milk formula (15- 20 ml every 2 hours) Active 6 urine output 4 meconium passages Objective T – 36.8  C HR 145 bpm RR 45 cpm Weight 2656 g (+) jaundice to abdomen Low set ears Good air entry Good cardiac tone, no murmurs Soft abdomen Scrotal skin over penis Full pulses TB 12.27 mg/ dl IB 11.78 mg/ dl DB 0.69 mg/ dl Assessment Term baby boy Hyperbilirubinemia, unspecified Webbed penis Plan Continue single phototherapy For repeat bilirubin levels Continue observation

12. + Course in the NICU Subjective 3rd day of life (AM) Tolerates 25- 30 ml of milk feedings plus breastfeeding Active 7 urine output 5 meconium passages Objective Wt – 2675 g T – 36.9  C HR 138 bpm RR 34 cpm (+) light jaundice to upper chest Low set ears Good air entry Good cardiac tone, no murmurs Soft abdomen Scrotal skin over penis Full pulses TB 13.4 mg/ dl IB 2.82 mg/ dl DB 0.80 mg/ dl Assessment Term baby boy Hyperbilirubinemia, unspecified Webbed penis t/c Trisomy 21 Plan For 2D echo Continue observation Discontinue phototherapy

13. + Course in the NICU Subjective 4th day of life (AM) Tolerates 25- 40 ml of milk feedings plus breastfeeding Active 7 urine output 4 meconium passages Objective Wt – 2695 g T – 36.9  C HR 138 bpm RR 35 cpm (+) light jaundice to upper chest Good air entry Good cardiac tone, no murmurs Soft abdomen Full pulses Assessment Term baby boy Hyperbilirubinemia, unspecified Webbed penis t/c Trisomy 21 Plan Discontinue single phototherapy For chromosomal testing May go home

14. + Pertinent features Mild upslanting of palpebral fissure Median epicantic folds Dysplastic right helix Hypoplastic nipples Mid phalanx hypoplasia, 5 th digit with clinodactyly

15. + 2D Echo Normal echocardial structure Normal function Small PDA 1- 2 mm, continuous flow Transitional Circulation

16. + Trisomy 21/ Down’s Syndrome  Chromosomal condition associated with intellectual disability, a characteristic facial appearance, and hypotonia  Each cell in the body has three copies of chromosome 21 instead of the usual two copies

17. + Epidemiology From January 1, 2009 to January 1, 2013:

18. + Features Decreased muscle tone at birth Excess skin at the nape of the neck Flattened nose Separated joints between the bones of the skull (sutures) Single crease in the palm of the hand Small ears Small mouth Upward slanting eyes Wide, short hands with short fingers

19. + Genetics: Trisomy 21 During reproduction and fertilization, the baby is a set of 46 chromosomes, 23 from the mother and 23 from the father (divided from the usual 46 chromosomes of each parent) An error occurs where the egg or sperm cell keeps both copies of the 21 chromosome hence the extra chromosome

20. + Complications Congenital heart defects Visual and hearing impairment (e.g. crossed- eyes, near- or far- sightedness or cataracts) Thyroid problems Leukemia Recurrent respiratory infection Intestinal problems Skeletal problems