Neonatology Q30-41

30. Congenital heart defects without cyanosis

31. Congenital heart defects with cyanosis
32. Major congenital defects of respiratory system
33. Disorders of glucose homeostasis
34. Extra-pulmonary causes of neonatal hypoxia
35. Fluid and electrolyte balance in the neonate
36. Neonatal anemia
37. Ethical problems in neonatology
38. Bleeding disorders in the neonate
39. Discharge planning in the well newborn infants
40. Principles of oxygen therapy, especially in the premature infants
41. Screening tests in the newborn infants
30. Congenital heart defects without
cyanosis
• Congenital heart defects with L-R shunts or
obstructive defects cause this.
- L-R shunts: VSD (most common), ASD, AVSD, PDA.
- Obstructive: Pulmonary stenosis, aortic stenosis,
coarctation of aorta.

• In all L-R shunts, Eisenmenger syndrome may occur.

- Pulmonary HTN -> shunt will reverse -> cyanosis.
Cont.
• VSD: could be isolated or with another defect (e.g. ToF/pulmonary
atresia/tricuspid atresia/coarctation).
- Classification: perimembranous or muscular.
- Symptoms depend on VSD size (small vs large). Large VSD causes dyspnea and
leads to Eisenmenger.
- Dx: holosystolic murmur on the tricuspid area + ECHO.
- Tx: Suture + close defect (Gore-tex).
Cont.
• ASD:
- Classification:
1) ostium secundum (70%) – superior defect.
2) ostium primum (20%) – inferior defect.
3) superior venous sinus defect (10%) – under superior vena cava.

- Symptoms: usually asymptomatic, manifesting in middle age as exertional

dyspnea.
- Dx: wide, fixed splitting of S2. Systolic ejection murmur at left upper
sternal border (2nd intercostal) + ECHO (dilation of right heart) + ECG (Right
axis shift due to eventual RV hypertrophy).
- Tx: catheterization closure by Amplatzer occlusion (in severe defects only).
Cont.
• AVSD: a “common AV valve” with ASD and VSD.
- Usually in Down syndrome.
- Classification: incomplete (only ASD) vs complete (ASD+VSD) forms.
- Both forms are associated with cleft mitral valves  mitral regurgitation.
- Symptoms: HF + other stuff depending on the size of the defect.
- Dx: murmurs of ASD, VSD, and mitral regurgitation + ECHO.
- Tx: surgical correction within 2-4 months.

• PDA: occurs in very premature neonates.

- During fetal period, a DA is actually a R-L shunt, but it changes to L-R shunt after delivery
-> pulmonary overload -> pulmonary HTN.
- Symptoms: Dyspnea.
- Continuous machine-like murmur.
- Tx: indomethacin (blocks PGE2) + surgical ligation if necessary.
Cont.
• CoA: narrowing of descending part of aorta near ductus arteriosis.
- Causes HTN in upper body  LV hypertrophy.
- Also causes hypotension in lower body  low flow to kidney  RAAS
 secondary HTN.
- Symptoms: HF + non-palpable femoral pulse.
- Dx: Measure upper and lower BP + ECHO.
- Tx: Resection w/ end-to-end anastomosis + stent + catheterization
aortoplasty.
Cont.
• Pulmonary stenosis:
- Classification: supravalvular, valvular, subvalvular (part of ToF).
- If uncritical, there are minimal symptoms, mainly dyspnea. If critical, it’s life-
threatening.
- Dx: ECHO.
- Tx: Valvulotomy/valvuloplasty - surgery.

• Aortic stenosis:
- Classification supravalvular/valvular/subvalvular.
- Uncritical: intense dyspnea, angina, syncope.
- Critical: HF, hypotension, shock.
- Tx: Valvulotomy/valvuloplasty.
31. Congenital heart defects with cyanosis

• Congenital heart defects with R-L shunts cause this.

- R-L shunts: Tetralogy of Fallot, hypoplastic left heart syndrome,
tricuspid atresia, pulmonary atresia, transposition of the great
arteries, total anomalous pulmonary venous return (TAPVR),
truncus arteriosis.

• O2 sats will be <85%.

• Oxygen therapy should be given.
Cont.
• Transposition of GV:
- For survival, you need at least one of: ASD, VSD, or PDA.
- Symptoms: cyanosis + tachycardia + tachypnea + dyspnea + HF.
- Dx: ECHO + ECG (RV hypertrophy) + X-ray.
- Tx: Can give PGE1 to maintain PDA until surgery can be done. Cardiac septostomy (make
an ASD). Should be corrected anatomically by “arterial switch” within 7-10 days.

• ToF: VSD + PS + RV hypertrophy + overriding aorta.

- Cyanosis + dyspnea + hypoxic seizures (tet spells where usually a child squats down to
increase pressure).
- Dx: harsh systolic murmur due to the PS + ECG (RV hypertrophy) + boot shaped heart on
xray. ECHO (best choice).
- Tx: to treat hypoxic attacks, use beta blockers as prevention, and oxygen therapy and
morphine/benzos (for sedation) in acute attacks. For causal therapy, at about 1-2 years of
life, correct the VSD and reconstruct the RV outflow tract (valvuloplasty).
Cont.
• Hypoplastic left heart syndrome:
- Complex defect consisting of: LV hypoplasia + severe aortic/mitral valve stenosis + RV
hypertrophy.
- You need to maintain a PDA + ASD for survival.
- Dx: ECHO – you will see LV hypoplasia.
- Tx: PGE + Norwood operation.

• Pulmonary atresia:
- Classification:
1) atresia w/ VSD.
2) atresia w/ ASD (critical).
- Pulmonary valve does not form at all.
- Both forms also require a PDA.
- Severe hypoxemia (cyanosis, tachypnea, dyspnea) + HF.
- Dx: ECG (LV hypertrophy) + ECHO + angiography of pulmonary vessels.
- Tx: PGE1 to maintain PDA + surgery (Fontan procedure - the IVC is disconnected from the heart
and routed directly to the pulmonary artery).
Cont.
• Truncus arteriosis: failure to divide into pulmonary trunk
and aorta due to failure of aorticopulmonary septum
formation; most patients have accompanying VSD.

• Tricuspid valve atresia.

• TAPVR: the pulmonary veins connect to the SVC instead of

the LA.
32. Major congenital defects of respiratory
system
• Pulmonary agenesis/aplasia.
• Pulmonary hypoplasia:
- Poorly developed bronchial tree with abnormal histology.
- Associated with CDH (usually left-sided) or bilateral renal agenesis (Potter sequence).
• Cystic adenoid malformation: usually an entire lobe of lung is replaced by a non-
working large cystic piece of abnormal lung tissue.
• Cleft lip & palate: due to failure of facial prominences to fuse .
- Risk of aspirations + URT infections.
• Choanal atresia: osseous (90%) or membranous (10%).
- Important because newborns are obligate nose-breathers.
• Subglottic stenosis: malformed cricoid cartilage.
- Inspiratory stridor + cough.
- Do laryngoscopy.
• Laryngeal web.
Cont.
• Laryngomalacia: most common cause of chronic stridor in infancy, in which the
soft, immature cartilage of the upper larynx collapses inward during inhalation,
causing airway obstruction.
- Inspiratory stridor.
• Laryngocele.
• Tracheomalacia: flaccidity of the tracheal cartilage  causes tracheal collapse,
especially during times of increased airflow, such as coughing, crying, or feeding.
• TEF.
- Risk of aspiration of saliva.
• Congenital emphysema (A1AT deficiency).
33. Disorders of glucose homeostasis
• Newborns have a higher brain/total weight ratio -> higher demands of glucose.
• The neonatal liver production of glucose is 3-6 times higher than in adults.
• Adaptive changes in the newborn (↓ insulin, ↑ adrenaline and glucagon) exist to maintain
the glucose level after delivery.

• Hypoglycemia: below 2.5 mmol/L.

- Manifests mainly in the first 12-24h.
- Occurs in 5% of full-terms; 15% in pre-terms.
- Etiology:
1) Hyperinsulinism: diabetic mother (LGA), Rh-incompatibility, Beckwith-Wiedemann.
2) Insufficient supply: preterm birth/SGA.
3) Increased expenditure: perinatal stress (e.g. infection/sepsis), transfusion, metabolic disorders.

- Often asymptomatic, but can cause neuro symptoms (tremors, irritability, or seizures) or apnea,
cyanosis, etc.
- Dx: check blood glucose routinely every hour post-birth.
- Tx: 10% glucose IV bolus (2ml/kg). Then, check again within 15 mins, then every 4-6 hours. A
continuous infusion of 6-7mg/kg/min may be used if it doesn’t increase.
Cont.

• Persistent hyperinsulinemic hypoglycemia:

- AR disorder causing hypersecretion of insulin -> low glucose (resistant to diazoxide therapy).
- Manifests usually within 72 hours after birth with severe hypoglycemia (tremor, irritability,
seizures, hypotonia, apnea).
- Usually the fasting glucose drops down to below 2.0 mmol/L.
- Tx: continuous glucose 10 mg/kg/min. Can also give glucagon or octreotide.

• Hyperglycemia: above 8.0 mmol/L.

- Much rarer than hypoglycemia.
- Acidosis may be present.
- May be caused by:
1) Parenteral nutrition.
2) Corticosteroids.
3) Neonatal DM.
4) Neonatal sepsis (causes increased cortisol and low insulin).
- Tx: Reduce the glucose intake if that’s the cause. Fix the water/electrolyte imbalance with
0.3% NaCl solution + 4.5% albumin. Continuous infusion of 0.05 UI/kg/hr of insulin.
34. Extra-pulmonary causes of neonatal hypoxia
Symptoms of respiratory disorders (respiratory distress syndrome):
Tachypnea: Increased breathing rate above 60 /min.
Dyspnea: jugular retractions, intercostal retractions, nasal flaring.
Grunting: breathing against a closed glottis.
Apnea: respiratory arrest for more than 20 seconds (or for a shorter period if the other
symptoms exist).
Cyanosis: bluish tongue and oral cavity.

Extra-pulmonary causes:
• Congenital heart defects (especially the cyanotic ones): see Q31.
• Anemia: see Q36.
• Polycythemia.
• TEF.
• CDH: dislocated heart sounds, prenatal US, postnatal x-ray.
• Neonatal sepsis.
Cont.
• Neonatal sepsis: systemic inflammatory response due to bacteremia.
- Will manifest with thermoregulation defects (fever), paleness, cyanosis, jaundice,
tachypnea, tachycardia, hypotension, lethargy, seizures, vomiting, hypoglycemia,
hyperglycemia, rash, purpura, etc.
- Dx: CBC will show anemia, leukocytosis, thrombocytopenia. CRP, procalcitonin, IL-6,
acidosis, high bilirubin. Do blood culture ALWAYS! Can also take urine and CSF, and do x-ray.
- Tx: amp-gent. Can also add gen 3 ceph and vancomycin, depending on the cause.
- Supportive Tx: IV fluids, PN, correction of acidosis/glycemia, norepinephrine, O2/vent.
support.

• Polycythemia: hematocrit above 0.65.

- Etiology: chronic hypoxia, asphyxia, IUGR, thyrotoxicosis, down syndrome, Beckwith-
Wiedemann.
- Symptoms: CNS depression, venous thrombosis, jaundice, hypoglycemia, hypokalemia.
- Tx: reduce the hematocrit by hemodilution.
35. Fluid and electrolyte balance in the neonate

• Total water represents 80% of newborn weight at birth.

• Up to 10% of birth weight is lost via water loss in first 5 days, and
regained within 2 weeks.
• Fluid loss in newborns can be renal losses or extra-renal losses (1/3 via
breathing and 2/3 via skin).
• When there is fluid depletion, you see weight loss, increased skin turgor
(check on abdomen), depressed fontanelles, dry mucous membranes,
tachycardia, and hypotension (late sign).
• Tx of fluid loss depends on birth weight: on the first day 50-70
ml/kg/day + 20 ml/kg added for every consecutive day (max 150-200
ml/kg/day).
Cont.
• Electrolyte disturbances: sodium, potassium, calcium (think about hyper/hypo
for each).

• Sodium: after birth, there is low sodium losses so the risk of hypernatremia is
higher.
• Hyponatremia (usually hypovolemic hyponatremia in neonates) is a risk if
there are insensible losses going on (e.g. diarrhea, vomiting).
- Seizures + no weight loss after birth if fluid retention.
• Hypernatremia is more common, and can be caused by diarrhea, vomiting, or
high fever. It may also be caused by poor feeding in the early days of life (all
causes are due to dehydration).

• See notes pdf 54 to read more about sodium, potassium, and calcium.
Cont.
• Potassium: 3.5-5.5 mmol/L.
- Hypokalemia: due to diuretics, diarrhea, or alkalosis. Causes ileus, hypotonia,
and prolonged QT w/ T wave flattening. Treat with KCl 1 mmol/kg/h.
- Hyperkalemia: due to prematurity (relative hyperaldosteronis), hemolysis, and
renal failure. Causes peaked T waves, asystole, and other arrhythmias. Treat with
calcium gluconate + insulin + glucose + salbutamol.

• Calcium: ionized 1.0-1.2 mmol/L. Total 2.2-2.5 mmol/L.

- Hypocalcemia: due to neonatal hypocalcemia (calcium supply over the placenta
 decreased PTH). It is temporary and goes away by itself. Other causes are DM of
mother, loop diuretic, and inadequate intake of milk.
- Symptoms: tetany, tremors, seizures, bone demineralization, and possibly rickets.
- Treatment: 10% calcium gluconate + vitamin D supplementation (1000 IU/day).
36. Neonatal anemia
• Defined by a drop in Hb concentration below 120 g/L
or HCT below 40%.

Can be divided into:

• Physiological anemia:
- In the case of term babies, it drops to 100 - 110 g/L between 8-10th
week after birth. This is the all time low; after this, it rises again.
- For pre-mature babies it drops to 90-100 g/L between 4-8th week after
birth (drops even lower).
Cont.
• Pathological anemia:
1) Reduced production: diamond-blackfan, aplastic anemia, sideroblastic, leukemia,
infections (rubella, syphilis).
2) Hemolysis: RhD/ABO incompatibility, spherocytosis, G6PD, thalassemia, sickle cell
anemia, sepsis, etc.
3) Blood loss: prenatal bleeding like placental abruption, cephalohematoma,
intra/periventricular hemorrhage, coagulopathy, etc.

• Therapy of acute blood loss: transfusion of blood group 0 Rh-.

Cont.
Clinical manifestations:
• Acute blood loss:
- Pale skin, tachycardia, tachypnea
- Weak peripheral pulse, hypotension and therefore a hypovolemic shock
clinical picture.

• Chronic blood loss:

- Paleness, somnolence, tachycardia.
- Hepatospenomegaly; extramedullary hematopoiesis.

• Hemolytic anemia:
- Jaundice; the first symptom.
- Hepatosplenomegaly.
- Hydrops fetalis.
37. Ethical problems in neonatology

• Viability? It is currently limited by pulmonary maturity. Effective gas exchange is possible

from about 24 weeks.
- 23 is the “grey-zone”.
- Full intensive care is provided from the 24th week, which can be terminated with
agreement of parents (if it’s in the child’s best interest).
• Newborns have the right to live. In neonatology, we generally try to save even the smallest
children.
• Some newborns may be rescued thanks to intensive care, but with severe permanent
impairments, which can sometimes be considered to be “worse than death” by the
parents.’
• It is necessary to consider which states are meant to be saved and which are not. It is
advisable to engage in parental decision-making in unclear situations.
• We must also take into account the family. Always ask the question: is the family is able to
care for a child with disabilities?
Cont.
• A big ethical decision is when to not start/stop intensive care for the neonate.
• Not starting intensive care: decision usually taken by the doctor in acute
condition when there is no time to discuss the decision.
- Gestational age below 24 weeks.
- Serious congenital defects incompatible with life.
- Chromosomal aberrations with very poor prognosis (e.g. trisomy 13, 18).
- Certain signs of death.
• Stopping of intensive care: this decision is taken by a team of doctors/nurses.
Things to consider are: prognosis, quality of life, parents’ view and ability of
care.
• When CPR is given, resuscitation should end after 10 minutes of absence of
cardiac activity.
38. Bleeding disorders in the neonate

• Hemorrhagic disease of the newborn.

- Due to transient vitamin K deficiency (lack of GI flora + no vitamin K
in breast milk).
- Early form (within 24h); classic form (until 1 week); late form (until
12th week).
- You see GI bleeding (melena/hematemesis), bleeding from umbilical
cord, or epistaxis.
- Both PT/PTT increased due to inability to make factors 2, 7, 9, 10.
- Prevent with vitamin K i.m. injection within 1-2 hours of birth.
- If disease has already manifested, give vitamin K IV injection or FFP
in more severe cases.
Cont.
• DIC.
- Trigger mechanism: sepsis, asphyxia, shock, trauma, pancreatitis, NEC.
- You see a sepsis picture + petechia + bleeding at injection sites, hematemesis,
hematuria.
- Results in MODS and bleeding.
- Treatment includes correction of the cause + replacement of platelets
(thromboconcentrate) + coagulation factors (in FFP).

• Congenital coagulation disorders: hemophilia.

• Thrombocytopenia: often in premature.
- Destruction: ITP (Autoimmune production of lgG against GPIIb/IIIa).
- Consumption: DIC, TTP, HUS.
- No formation: Fanconi anemia, malignancies.
39. Discharge planning in the well newborn
infants
• The standard procedure is to discharge the newborn after 72 hours (i.e.
4th day).
• The baby must meet all health conditions.
- Application of Kanavit (vitamin K).
- Mother has started to lactate and the baby begins to thrive (weight gain
~30g/day).
- No signs of severe birth defects.
- No abnormal stool/urine/body temperature.
- No significant hyperbilirubinemia.
- Newborn screening tests performed: heel-prick blood test + cataract +
hearing + hip joint + etc).
Cont.
• At release, give pregnancy report with birth and newborn
info.
• A pediatric GP must be chosen and a meeting must be
arranged (within 48h of discharge).
• Birth certificate issued within 8 days + health insurance.
• The mother can ask to leave the hospital in less than 72
hours, but she has to be informed of all possible
complications and must sign a release form.
40. Principles of oxygen therapy, especially in
the premature infants pO2 preterm target is 8
– 12 kPa.

• O2 therapy is indicated for hypoxia. Otherwise 11 - 15 kPa.

- You see tachypnea, dyspnea, cyanosis, tachycardia.

- pO2 will be less than 50 mmHg (6.7 kPa). O2 sat below 85%.
- Keep in mind that not ALL premature babies require O2 therapy and even the ones that do, don’t
require 100% FiO2 always; we start at 0.3 FiO2.

• Dosage & method: unit of dosage is FiO2.

- Method: Inhaling from a bag or insufflation.
- Inhaled: the child has spontaneous breathing we just add oxygen to its inhaled air (preferably use
a bag).
- Insufflation: there is no spontaneous breathing so we administer air under pressure (mask with
bag or endotracheal tube or CPAP).

• Inhaled Oxygen should always be preheated (37°C) and humidified.

• Monitoring the O2 therapy: fluctuation of FiO2 over 0.4 may damage the lungs.
Cont.
• Evaluation of the effect of O2 therapy:
- Check skin color, HR, and breathing rate.
- Check O2 sat (should be over 85%). pO2 should be over 60 mmHg (8
kPa).

• Adverse effects of O2 therapy: due to ROS formation.

- Hypoxic-Ischemic Encephalopathy (HIE).
- Retinopathy of prematurity (ROP).
- Bronchopulmonary dysplasia (BPD).
- Necrotizing enterocolitis (NEC).
Cont.
• With which device will we deliver the oxygen?
- Nasal canula, bag, facemask, non-invasive techniques
(CPAP/BiPAP) and maybe even intubation if necessary.
- And for nasal canula we deliver 1L/minute.
41. Screening tests in the newborn infants

• The aim of newborn screening is rapid diagnosis and early treatment of infants
with these diseases.
• Total of 18 diseases being currently tested in the Czech newborn screening
program.
• Based on the analysis of a dry blood droplet obtained by puncturing the heel of
the infant and collecting a small amount of blood on a special filter paper (“heel
prick test”).
• Done on the 3rd day of life before the baby and mom are discharged on the 4 th day.
• All diseases are investigated by tandem mass spectrometry (except CH + CF + CAH).
- Congenital hypothyroidism: high TSH; low T4.
- Cystic fibrosis: immunoreactive trypsinogen over 60 ug/L.
- CAH: 17-OHP will be high!
Cont.
• Endocrine disorder:
- CAH.
- Congenital hypothyroidism.
- CF.

• Disorders of AA metabolism:
- PKU.
- MSUD.
- Glutaric aciduria.
- Isovaleric aciduria.
- Homocystinuria.
- Argininemia.
- Citrullinemia.
Cont.
• Disorders of FA-oxidation:
- MCAD deficiency.
- LCAD deficiency.
- VLCAD deficiency.
- CPT I & II (Carnitine palmitoyltransferase I).
- Carnitine-acylcarnitine translocase deficiency.
Cont.
• Screen the hip joint using Barlow & Ortolani signs. Can also
do Galezzi. Then, we can use ultrasound to examine the joint.
• Screen for cataracts using an ophthalmoscope to examine the
eyes for red reflex.
• Screen for hearing loss in selective risk groups (e.g.
prematurity, asphyxia, defects of face & CNS). It is done using
transient evoked otoacoustic emission.