PHILIPPINE CHILDREN’S MEDICAL CENTER

Quezon Avenue, Quezon City

CASE MANAGEMENT
Edwards Syndrome
By: Samuel Wibowo
2nd year PCMC resident NICU rotator July 2020

Consultant in Charge: Fellows In Charge

Jean Zialcita, MD Ma.Leah Pamela Ilagan, MD
Fatima Ruby C. Panela, MD
Genevieve A. Abuan, MD
Bernice Trinidad, MD

Resident in Charge
Samuel Wibowo, MD

General Data:
This is a case of a newborn who was delivered in our institution

Informant and Reliability: father, good reliability

Chief Complaint: Prematurity

History of Present Illness:

Patient was born to a 28 year old G2P2( 1102), was cognizant of pregnancy at 5
weeks AOG. Ultrasound was done 2x at private physician clinic which showed features of
chromosomal abnormalities. Congenital Scan was done at a private hosptital starting at 1 st
trimester which showed Double Outlet Right Ventricle. Fetal echo was done 2x at 28 weeks
age of gestation and 32 weeks age of gestation with same results hence advised by private
cardiologist to consult and checkup at a tertiary hospital. Mother had regular intake of
multivitamins , folic acid , and ferrous sulphate starting at 1st trimester.No hypertension,
diabetes, urinary tract infection, or other maternal illness. Mother had no exposure to
teratogen and radiation.
Patient was delivered via elective caesarean section secondary to polyhydramnion
and preterm contraction with breech presentation. Upon birth, patient needed positive
pressure ventilation to stimulate cry. Apgar score was 4,6, and 8 in the 1 st, 5th, and 10th
minutes respectively,

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Immunization and Gynecology History
The mother received two tetanus diphteria immunizations from the private
obstetrician during pregnancy. The regular contraception use by mother prior to pregnancy
was calendar method. The pregnancy was planned by both sides.

Personal and Social History

The patient lives with his parents in a two floor bungalow house, described to be well-
lit and well-ventilated. Home was with regular collection of garbage daily.Patient had no
exposure to cigarette during pregnancy.

Family Medical History

The patient is the first child of his mother and father. There is no family history of
malignancies, asthma, allergies, hypertension and diabetes , chromosomal abnormalities,
and autoimmune disease

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2

2016
(patient)

Physical Examination during birth

Time of birth: July 7 2020, 5.45 AM

General Survey: Awake, weak cry, in cardiorespiratory distress
Anthropometrics:
Birth Weight 1485 kg
Birth Length 35 cm
Head Circumference 31 cm
Chest Circumference 25 cm
Abdominal Circumference 23 cm

Vital Signs: BP: 80/50 mmHg HR: 170 bpm Respiratory rate: 70 cpm Temperature: 36.6

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SpO2: 88 % room air at 10th minute of life

Skin: No visible rashes, no jaundice, no pallor

HEENT: Microcephalic ,symmetric suture, non bulging anterior and posterior

fontanelle, no palpable mass, Anicteric sclerae, noted increased intercanthal
distance of 4 cm, pink palpebral conjunctivae, non-sunken eyes, no eye
discharge, no alar flaring , no nasal discharge, noted helix of ear lower than
the interchanthal line described as low set ears, noted extra fold of skin on
bilateral lateral side of neck described as webbed neck, no cleft lip or palate,
moist lips and mucosa, normal set ears, noted microstomia and bilateral
epicanthal fold

Respiratory: Symmetric chest expansion, no chest deformities, no retractions, resonant on

percussion, poor air entry, equal breath sounds, crackles noted on bilateral
lungs at lower 1/3 of lung. Noted distance between nipples = 5.5 cm

CVS: Adynamic precordium, no precordial bulge,normal rate regular rhythm, no lifts

or thrills, noted systolic murmur grade 3/6 PIM on 4th intercostal space ICM
radiating to infraclavicular and axillary region.

Abdomen: Globular, normoactive bowel sounds, tympanitic, soft, no organomegaly, no

masses palpated . Noted 2 umbilical artery and 1 vein

Genitalia : Grossly female external genitalia

Anus : Patent anus, no fistula noted, no blood or mucus

Extremities: Complete digits of both upper and lower extremities, Full and equal pulses,
capillary refill time less than 2 seconds , warm extremities, noted single
palmar crease at left hand, noted congenital vertical tallus or rocker bottom
feet

Spine : No sacral dimpling, no tuffs of hair

Back : Posterior hairline at level C7 (no low posterior hairline)

Neurologic: Awake and alert, responsive to stimuli

CN I: not assessed
CN II: pupils 3 mm equally and reactive to light, dazzle to light
CN III, IV, VI: full extraocular muscle movement on observation
CN V: good suck
CN VII: no facial asymmetry
CN VIII: turns to sound
CN IX, X: good gag reflex, midline uvula
CN XI: turns head equally to both sides
CNXII: tongue midline
Motor: good tone, no atrophy, moves all extremities symmetrically and spontaneously
Sensory: responsive to light touch and pinprick stimulus
DTRs 2+ on all extremities
Babinsky positive
Primitive refex: Intact Moro, suck, rooting, swallow, and grasp reflex

Initial Impression
Preterm, 34 weeks by Ballard Score, appropriate for gestational age , t/c mild
Respiratory Distress Syndrome, t/c trisomy 18, t/c patent ductus arteriosus
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Course in the Ward
On the 1st day of life, upon birth, due to respiratory distress syndrome, patient was
intubated immediately with administration of surfactant (Beractant) 4 cc/ kg for 2 vials.
Patient was hooked to mechanical ventilation and started on ampicillin and gentamicin for
coverage of sepsis. Hydration was started according to total fluid requirements based on
age. Umbilical catheter was also inserted. Chromosomal analysis was done for
prognostication. Pertinent laboratory findings were arterial blood gas which showed
metabolic acidosis with respiratory compensation and 2d echocardiography which showed
patent ductus arteriosus of moderate size. A repeat chest X ray was done on the 6th hour of
post surfactant administration which showed improvement of infiltrates on both lungs.
On the 2nd hospital day, patient had sudden onset of shock which presented as poor
pulses, cold extremities, with hypotension. Inotropes dopamine and dobutamine were started
and titrated to 10 mcg/kg/minute to maintain blood pressure. There was noted bleeding per
orem hence vitamin K of 0.5 mg via intravenous route was given. Fresh frozen plasma were
given for a total of 100 cc to replace bleeding losses. The initial consideration for cause of
bleeding was pulmonary hemorrhage secondary to surfactant administration.
On the 3rd hospital day, while still maintaining inotropes at same dose at 10
mcg/kg/minute, on repeat chest x ray was noted massive pneumoperitoneum. Penrose
drainage were inserted by surgery fellows. Post emergency insertion, patient was
hemodynamically stable. Pneumoperitoneum was thought as a result of spontaneous
intestinal perforation .
On the 4th hospital day, a family conference was started to explain comprehensively
the poor prognosis of Edwards Syndrome. A Do Not Resuscitate Status was signed by the
father. Patient was clinically stable throughout the day with inotropes.
On the 5th hospital day, there was noted sudden deterioration of patient with episodes
of refractory shock and hypotension. Inotropes were increased at a maximal dose of 20
mcg/kg/minute each but there was no improvemement of hemodynamic. Cardiac arrest
happened and patient was pronounced death at 4.30 AM.

Final Diagnosis
Preterm 34 weeks, appropriate for gestational age, RDS s/p surfactant ( 1 st hour of life), t/c
trisomy 18, PDA, pneumoperitoneum secondary to spontaneous intestinal perforation s/p
drainage (7/10)

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 LITERATURE REVIEW

Trisomy 18 or manifested as Edward’s syndrome, is the second most common

chromosomal abnormalities in newborn. About 0.2 % of newborns have a major
malformation as a result of chromosomal disorder, amounting for 10 % of all the major
congenital malformations. It is estimated that trisomy 18 occurs in about 1 in 10.000 births.
In about 94 % cases, every cell in the body has three copies of chromosome 18. The other 5
% constitute of mosaicism when some cells have two copies and some have three copies of
chromosome 18. The last 1 % constitute of partial mosaicism when there is an extra copy of
only a part of chromosome 18.
The most common eye anomalies in Edwards syndrome include epicanthus,
hypertelorism, and hypoplastic supraorbital ridges. Anomalies in central nervous system
include cerebellar hypoplasia, agenesis of corpus callosum, polymicrogyria, spina bifida, eye
microphthalmia, coloboma, cataract. Gastrointestinal anomalies may include omphalocele,
oesophageal atresia, tracheoesophageal fistula, imperforate anus, and pyloric stenosis.
Cardiac manifestation include ventricular and atrial septal defects, patent ductus arteriosus
and polyvalvular disease.
Physical deformities are evident indicative of syndromic pathology including severe
mental retardation, rocker bottom feet, low set posterior rotated auricles, micrognathia,
clenched hands with overlapping finger, crossed legs, prominent occiput, undescenced
testis, pectis carinatum, congenital heart disease. But absence of classical findings does not
totally rule out trisomy 18.
About 90-95 % of all this patient will die within a year of birth. About 50 % die within
the first week. The few infants that survive require special treatment ranging from muscular
therapy to nervous system and skeletal corrections for their various handicaps. Because
trisomy 18 is caused by non disjunction, it cannot be passed on to future generations hence
it is essential to be emphasized during genetic counseling. Detection of trisomy 18 in first
trimester combined test includes low level of beta HcG, low pregnancy associated plasma
protein A ( PAPP-A), and an increased NT measurement. In a prospective study, it is said
that more than 90 % of trisomy 21, 18, and 13 pregnancies could be detected using first
trimester combined screening with an overall false positive rate of 3.1 %.

Spontaneous intestinal perforation is a clinical entity occurring in approximately 2 %

of ELBW infants. It often presents as a gasless abdomen or as an asymptomatic
pneumoperitoneum, although other clinical and laboratory abnormalities may be present.
SIP tends to occur at an earlier postnatal age than NEC, has significantly lower morbidity

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and mortality, and is not associated with feeding. The risk of SIP is increased with early
postnatal glucocorticoid exposure and indomethacin treatment for PDA.

Reference:
1. Messerlian GM, Farina A, Palomaki GE. First trimester combined test and integrated
test for screening for Down syndrome and trisomy 18. Uptodate. 2020
2. Cloherty and Stark Manual of Neonatal Care 8th Edition .