+

BABY AD

+Identifying data

• Newborn male • Filipino• Born on Nov 19, 2013 via scheduled

repeat CS

+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

+Maternal history

• >7 prenatal check ups• UTI 1st 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

+Maternal Past Medical History

No Diabetes

No Hypertension

No asthma or allergy

+Family History

(+) Diabetes Mellitus- maternal

(-) Hypertension

(-) Congenital Anomalies

+Pedigree Chart

+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

+DeliveryClear 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

+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

+Course in the NICU

Subjective

• 27th 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

+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

+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

+Pertinent features

Mild upslanting of palpebral fissure

Median epicantic folds

Dysplastic right helix

Hypoplastic nipples

Mid phalanx hypoplasia, 5th digit with clinodactyly

+2D Echo

Normal echocardial structure

Normal function

Small PDA 1- 2 mm, continuous flow

Transitional Circulation

+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

+Epidemiology

From January 1, 2009 to January 1, 2013:

+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

+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

+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