Newborn reflexes and conditions

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Questions and Answers

An Apgar score assesses an infant's condition using which criteria?

  • Blood pressure, temperature, and oxygen saturation
  • Weight, length, and head circumference
  • Reflexes, motor skills, and cognitive abilities
  • Heart rate, respiration, color, muscle tone, and response to stimuli (correct)

The parachute reflex, which appears around 9 months, disappears by 24 months.

False (B)

What is the primary cause of Infant Respiratory Distress Syndrome (IRDS) in premature infants?

Insufficient surfactant

The Moro reflex, also known as the ______ reflex, typically disappears by 3 months of age.

<p>startle</p> Signup and view all the answers

Match the following reflexes with their typical disappearance timeframes:

<p>Palmar Grasp Reflex = 6 months Rooting Reflex = 3-7 months Plantar Grasp Reflex = 6 weeks Tonic Neck Reflex = 5 months</p> Signup and view all the answers

Which of the following conditions is characterized by abnormal retinal vessel growth due to high oxygen exposure in premature infants?

<p>Retinopathy of Prematurity (ROP) (B)</p> Signup and view all the answers

The crawling reflex (symmetric tonic neck reflex) causes infants to extend arms and bend knees when the head/neck is flexed.

<p>False (B)</p> Signup and view all the answers

What is a common treatment for Retinopathy of Prematurity (ROP)?

<p>Laser therapy</p> Signup and view all the answers

Which of the following conditions involves the absence of ganglion cells in the intestines, leading to blockage?

<p>Hirschsprung Disease (D)</p> Signup and view all the answers

Spina Bifida Occulta always requires immediate surgical intervention to correct the incomplete closure of the vertebrae.

<p>False (B)</p> Signup and view all the answers

What is the primary purpose of performing an umbilical cord blood analysis immediately after birth?

<p>To investigate acid-base status, arterial blood gas measurements, and evidence of maternal-fetal blood incompatibility</p> Signup and view all the answers

A Coombs test is used to detect Rh antibodies in maternal blood and diagnose __________ __________ of the newborn.

<p>hemolytic disease</p> Signup and view all the answers

Match the following conditions with their primary treatments or management strategies:

<p>Cystic Fibrosis = Chest physiotherapy, enzyme supplements, CFTR modulators Hydrocephalus = Shunting to drain fluid, medications, treatment of underlying cause Phenylketonuria (PKU) = Protein-restrictive diet, low-phenylalanine foods Duchenne Muscular Dystrophy = Physical therapy, corticosteroids, mobility aids</p> Signup and view all the answers

Which of the following conditions is characterized by an excess of cerebrospinal fluid in the brain ventricles?

<p>Hydrocephalus (A)</p> Signup and view all the answers

Phimosis, a condition where the foreskin cannot be retracted, can only be treated with immediate circumcision.

<p>False (B)</p> Signup and view all the answers

What genetic defect causes Phenylketonuria (PKU)?

<p>Enzyme deficiency that prevents the metabolism of phenylalanine into tyrosine</p> Signup and view all the answers

In the Apgar scoring system, 'G' stands for __________, which refers to the baby's response to stimuli.

<p>grimace</p> Signup and view all the answers

What is the most common genetic cause of Duchenne Muscular Dystrophy?

<p>Mutation in the dystrophin gene (C)</p> Signup and view all the answers

Clubfoot (Talipes equinovarus) has a definitive, known single cause.

<p>False (B)</p> Signup and view all the answers

What is a common treatment method to correct Clubfoot (Talipes equinovarus)?

<p>Casting, bracing, or surgery (Ponseti method)</p> Signup and view all the answers

__________ is a genetic condition in males where there is an extra X chromosome (XXY).

<p>Klinefelter Syndrome</p> Signup and view all the answers

What is the primary cause of metabolic acidosis in newborns?

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Why are newborns tested for certain conditions even if symptoms are not immediately present?

<p>To allow treatment to begin before irreversible damage occurs. (D)</p> Signup and view all the answers

The presence of the Moro reflex beyond three months of age is considered a normal developmental milestone.

<p>False (B)</p> Signup and view all the answers

What is the expected response in a newborn exhibiting the rooting reflex when their cheek is stroked?

<p>The newborn will turn their head toward the stimulated side and begin to suck.</p> Signup and view all the answers

The plantar grasp reflex, characterized by flexion of the toes, typically disappears by the age of ______.

<p>six weeks</p> Signup and view all the answers

Match each reflex with its corresponding description:

<p>Moro reflex = Sudden jarring causes extension/abduction of extremities Dance reflex = Simulates walking when held erect Sucking reflex = Newborn sucks anything touching the lips Rooting reflex = Turns head towards stimulated side to suck</p> Signup and view all the answers

Which of the following reflexes emerges later in infancy rather than being present at birth?

<p>Tonic Neck reflex (A)</p> Signup and view all the answers

A newborn is assessed using the Apgar score. What does the 'G' in the Apgar acronym stand for?

<p>Grimace (C)</p> Signup and view all the answers

The crawling reflex is characterized by asymmetrical movements of the limbs.

<p>False (B)</p> Signup and view all the answers

The crawling reflex is present in newborns and disappears after the neonatal period.

<p>False (B)</p> Signup and view all the answers

Infant Respiratory Distress Syndrome (IRDS) is associated with a deficiency of which substance in the lungs?

<p>Surfactant (B)</p> Signup and view all the answers

Describe the expected response in an infant demonstrating the tonic neck reflex when the head is turned to one side.

<p>The arm and leg on the side to which the head is turned will extend, while the limbs on the opposite side will flex.</p> Signup and view all the answers

The neck righting reflex appears between ______ months of age and should no longer be obtainable at 24 months of age.

<p>four and six</p> Signup and view all the answers

Bronchopulmonary Dysplasia (BPD) is often a sequela of IRDS and mechanical ______.

<p>ventilation</p> Signup and view all the answers

What condition is characterized by abnormal blood vessel growth in the retinas of premature infants?

<p>Retinopathy of Prematurity (ROP) (B)</p> Signup and view all the answers

What is the expected response of an infant demonstrating the parachute reaction (reflex)?

<p>Extending the arms and fingers in a protective movement. (C)</p> Signup and view all the answers

Surgery for necrotizing enterocolitis (NEC) is indicated when peritonitis or perforation occurs.

<p>True (A)</p> Signup and view all the answers

The parachute reflex typically disappears by the age of 12 months.

<p>False (B)</p> Signup and view all the answers

Define the term 'perinatal mortality'.

<p>Perinatal mortality describes the total number of fetal and early neonatal deaths per 1,000 total births.</p> Signup and view all the answers

Robinow syndrome is sometimes misdiagnosed as what condition related to growth?

<p>&quot;failure to thrive&quot;</p> Signup and view all the answers

An infant whose birth weight falls above the 90th percentile on intrauterine growth curve charts is classified as:

<p>Large for Gestational Age (LGA) (B)</p> Signup and view all the answers

Hypertrophic cardiomyopathy is characterized by:

<p>Thickening of a portion of the heart muscle (B)</p> Signup and view all the answers

Match the following reflexes with their descriptions:

<p>Moro reflex = Startle response to sudden loss of support Rooting reflex = Turning the head towards a touch on the cheek Palmar grasp reflex = Curling fingers around an object placed in the palm Dance reflex = Infant appears to 'dance' or take steps when feet touch a surface</p> Signup and view all the answers

Death of the fetus after 20 weeks of gestation and before delivery is termed ______.

<p>Fetal Death</p> Signup and view all the answers

Which of the following congenital heart defects is classified as acyanotic?

<p>Ventricular septal defect (VSD) (C)</p> Signup and view all the answers

Down Syndrome is also know as:

<p>Trisomy 21 (A)</p> Signup and view all the answers

Match the term to it's definition:

<p>AGA = Infant whose intrauterine growth was normal at birth IUGR = Infant whose intrauterine growth is slower than expected LBW = Infant whose birth weight is less than 2500 grams Neonatal Death = Death in the first 28 days of life</p> Signup and view all the answers

A small ventricular septal defect (VSD) is always diagnosed immediately at birth due to the severity of symptoms.

<p>False (B)</p> Signup and view all the answers

Congenital cardiac ______ are defects can be associated with Down syndrome and may require surgical correction.

<p>defects</p> Signup and view all the answers

What is one possible cause of cerebral palsy (CP)?

<p>Inadequate blood or oxygen supply to the brain</p> Signup and view all the answers

Patent ductus arteriosus (PDA) is often accompanied by what other acyanotic congenital cardiac defect?

<p>atrial septal defect</p> Signup and view all the answers

Coarctation of the aorta can lead to left ventricular failure and subsequent __________ __________.

<p>pulmonary edema</p> Signup and view all the answers

Muscular dystrophy (MD) primarily affects females due to its X-linked genetic inheritance.

<p>False (B)</p> Signup and view all the answers

Which type of spina bifida involves a meningeal sac protruding through the vertebral opening, containing cerebrospinal fluid (CSF)?

<p>Meningocele (B)</p> Signup and view all the answers

Match each component with its presence in Tetralogy of Fallot:

<p>Ventricular Septal Defect = Present Pulmonary Valve Stenosis = Present Dextroposition of the Aorta = Present Right Ventricular Hypertrophy = Present Atrial Septal Defect = Absent</p> Signup and view all the answers

In cases of hydrocephalus, CSF shunts are typically placed to drain excessive fluid into which two anatomical sites?

<p>The peritoneal cavity or the right atrium (B)</p> Signup and view all the answers

What is the primary consequence of transposition of the great arteries?

<p>Two closed-loop circulatory systems (B)</p> Signup and view all the answers

In 'true' clubfoot, the foot can be easily manipulated into the correct anatomical position with manual pressure.

<p>False (B)</p> Signup and view all the answers

Which of the following maneuvers are used at birth to diagnose developmental dysplasia of the hip (DDH)?

<p>Ortolani and Barlow maneuvers (A)</p> Signup and view all the answers

What surgical treatment is typically performed to correct cryptorchidism?

<p>orchiopexy</p> Signup and view all the answers

The primary symptom of congenital pyloric stenosis is __________ __________.

<p>projectile vomiting</p> Signup and view all the answers

What is the primary treatment for Hirschsprung disease?

<p>Surgery to remove the affected bowel segment (D)</p> Signup and view all the answers

The sweat test, used to diagnose Cystic Fibrosis (CF), primarily assesses the sodium and chloride levels in the patient's sweat.

<p>True (A)</p> Signup and view all the answers

What dietary modification is essential for managing phenylketonuria (PKU)?

<p>Restriction of phenylalanine (C)</p> Signup and view all the answers

What is the genetic basis of Klinefelter syndrome in males?

<p>presence of at least one extra X chromosome</p> Signup and view all the answers

Turner syndrome in females is characterized by the absence of one __________ chromosome.

<p>x</p> Signup and view all the answers

What does a low Apgar score typically indicate?

<p>The infant may require immediate medical intervention. (A)</p> Signup and view all the answers

An Apgar score of 10 indicates that the baby needs immediate medical intervention.

<p>False (B)</p> Signup and view all the answers

Define asphyxia in the context of umbilical cord analysis.

<p>Asphyxia is a condition of oxygen deficiency, also called hypoxia.</p> Signup and view all the answers

A pH of less than 7.20 in umbilical cord blood indicates a condition called ______.

<p>acidosis</p> Signup and view all the answers

Match the following conditions with their respective characteristics:

<p>Acidosis = Abnormal accumulation of acid in the body. Asphyxia = Condition of oxygen deficiency. Hypercapnia = Increased carbon dioxide in the blood.</p> Signup and view all the answers

An infant is born with an incomplete closure of the vertebrae. Which condition is the infant most likely to be diagnosed with?

<p>Spina Bifida Occulta (B)</p> Signup and view all the answers

Surgical repair is typically not needed for meningocele.

<p>False (B)</p> Signup and view all the answers

What is the primary treatment for congenital pyloric stenosis?

<p>Surgical pyloromyotomy</p> Signup and view all the answers

A child diagnosed with cystic fibrosis has a genetic mutation affecting the ______ gene.

<p>CFTR</p> Signup and view all the answers

Match the following genetic conditions with their respective chromosomal abnormality:

<p>Down Syndrome = Trisomy 21 Klinefelter Syndrome = XXY Turner Syndrome = Missing or incomplete X chromosome</p> Signup and view all the answers

Which condition results from the absence of ganglion cells in the intestines, causing blockage?

<p>Hirschsprung Disease (C)</p> Signup and view all the answers

In phenylketonuria (PKU), the body is unable to metabolize tyrosine.

<p>False (B)</p> Signup and view all the answers

Briefly describe the genetic cause of Duchenne Muscular Dystrophy (DMD).

<p>Genetic mutation in the dystrophin gene.</p> Signup and view all the answers

Excess cerebrospinal fluid in the brain ventricles is characteristic of a condition called ______.

<p>hydrocephalus</p> Signup and view all the answers

Which newborn condition is often treated with a Pavlik harness?

<p>Developmental Dysplasia of the Hip (A)</p> Signup and view all the answers

Flashcards

Apgar Score

Evaluates newborns at 1 & 5 minutes after birth, scoring heart rate, respiration, muscle tone, reflexes, and color.

Moro Reflex (Startle reflex)

Sudden extension and abduction of extremities in response to a loud noise/jarring, followed by flexion and adduction.

Dance Reflex (Stepping reflex)

Legs flex and extend in a walking motion when held upright and tilted forward.

Sucking Reflex

Sucking motion when something touches the lips.

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Rooting Reflex

Turning the head and opening the mouth when cheek is stroked

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Prematurity

Birth occurring before 37 weeks of gestation.

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Infant Respiratory Distress Syndrome (IRDS)

Breathing difficulty due to insufficient surfactant.

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Retinopathy of Prematurity (ROP)

Abnormal blood vessel development leading to blindness.

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Cystic Fibrosis (CF)

Caused by genetic mutation, results in thick mucus affecting lungs and digestive system.

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Phenylketonuria (PKU)

Inborn error where the enzyme to convert phenylalanine into tyrosine is deficient, leading to brain damage if untreated.

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Klinefelter Syndrome

Genetic condition in males with an extra X chromosome (XXY).

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Turner Syndrome

Genetic condition in females with a missing or incomplete X chromosome.

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Umbilical Cord Analysis

Evaluates acid-base status, blood gasses, and maternal-fetal blood incompatibility using blood from the umbilical cord.

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Acidosis

Abnormal accumulation of acid in the body, indicated by a pH less than 7.20; caused by increased hydrogen ions.

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Asphyxia

Condition of oxygen deficiency, also known as hypoxia

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Hypercapnia

Condition of increased carbon dioxide in the blood.

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Coombs Test

Test to detect Rh antibodies in maternal blood and diagnose hemolytic disease of the newborn.

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Neural Tube Defect

Failure to close during fetal development that results in various defects.

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Robinow Syndrome

Genetic disorder causing facial and skeletal abnormalities.

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Phenylketonuria (PKU)

Autosomal recessive disorder in which the body can't process phenylalanine.

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Pyloric Stenosis

Condition where pyloric sphincter thickens, obstructing gastric emptying.

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Down Syndrome

Genetic disorder (trisomy 21) causing intellectual disability and physical traits.

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Moro Reflex (Startle)

Sudden jarring causes extension/abduction of extremities, followed by flexion/adduction. Disappears ~3 months.

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Dance (Stepping) Reflex

Flexion/extension of legs when held upright with feet touching a surface. Disappears ~3-6 weeks.

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Palmar Grasp Reflex

Flexion of fingers when palm is stimulated. Disappears ~6 months.

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Plantar Grasp Reflex

Flexion of toes when sole of foot is stroked. Disappears ~6 weeks.

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Crossed Extension Reflex

Adduction/extension of one leg when the foot of the other is stimulated. Present in first 2 months.

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Crawling (Symmetric Tonic Neck) Reflex

Extending arms and bending knees when head/neck is extended. Disappears when crawling begins.

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Tonic Neck (Asymmetric Tonic Neck) Reflex

Extending arm/leg on the side the head is turned to, flexing limbs on the opposite side. Appears ~2 months, disappears ~5 months.

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Neck Righting Reflex

Turning head causes shoulders/trunk to rotate in the same direction. Appears ~4-6 months, disappears ~24 months.

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Landau Reflex

Horizontal prone position causes a convex arc with head raised and legs flexed. Appears ~3 months, disappears ~24 months.

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Parachute Reflex

Extending arms/hands/fingers when dropped onto a soft surface. Appears ~9 months, persists for life.

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Appropriate for Gestational Age (AGA)

Infant's weight is normal for their gestational age.

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Fetal Death

Death of fetus after 20 weeks gestation, before delivery.

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Large for Gestational Age (LGA)

Infant's weight is above the 90th percentile for gestational age.

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Small for Date (SFD) Infant

Infant with slowed intrauterine growth, delivered at term or post-term.

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Neonatal Reflexes

Automatic, involuntary movements in response to specific stimuli, present in newborns.

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Bronchopulmonary Dysplasia (BPD)

A lung disease often resulting from IRDS, mechanical ventilation, or infection in premature infants.

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Necrotizing Enterocolitis (NEC)

A serious intestinal disease in premature infants, potentially requiring surgery for peritonitis or perforation.

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Hypertrophic Cardiomyopathy

A genetic disorder where a portion of the heart muscle thickens, potentially causing sudden cardiac death.

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Cerebral Palsy (CP)

A group of neurological disorders resulting from brain damage before, during, or shortly after birth.

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Muscular Dystrophy (MD)

A group of genetic diseases characterized by progressive muscle weakness and degeneration.

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Spina Bifida

A birth defect involving incomplete closure of the spinal cord.

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Meningocele

A type of spina bifida where a sac containing CSF protrudes through a vertebral opening.

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Hydrocephalus

A condition caused by excessive CSF in the brain, potentially due to congenital defects or trauma.

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Congenital Heart Disease (CHD)

Defects present at birth affecting the heart's structure.

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Ventricular Septal Defect (VSD)

A hole in the septum between the ventricles, leading to abnormal blood flow.

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Patent Ductus Arteriosus (PDA)

Failure of the ductus arteriosus to close after birth, causing blood to bypass the lungs.

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Coarctation of the Aorta

Narrowing of the aorta, obstructing blood flow to the lower body.

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Atrial Septal Defect (ASD)

A hole in the septum between the atria, causing abnormal blood flow

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Tetralogy of Fallot

A combination of four heart defects: VSD, pulmonary stenosis, overriding aorta, and right ventricular hypertrophy.

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Transposition of the Great Arteries

The aorta and pulmonary artery are switched, creating two separate circulatory loops.

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Clubfoot

A congenital foot deformity where the foot is twisted out of shape or position.

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Developmental Dysplasia of the Hip (DDH)

Abnormal development of the hip joint, leading to instability.

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Cleft Lip/Palate

A birth defect where there's a split in the lip and/or palate.

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Cryptorchidism

Condition where one or both testes fail to descend into the scrotum.

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Wilms Tumor

A rare kidney cancer that primarily affects children.

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Congenital Pyloric Stenosis

Narrowing of the pylorus, causing obstruction of stomach emptying.

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Study Notes

  • The Apgar score measures an infant's condition at 1 and 5 minutes after birth.
  • Heart rate, respiration, color, muscle tone, and response to stimuli are scored from 0-10.
  • The acronym Apgar: "A" is for appearance (color), "P" is for pulse (heart rate), "G" is for grimace (response to stimuli), the second "A" is for activity (muscle tone) and the "R" is for respiration (respiration rate).
  • Immediate intervention is required to babies with low Apgar scores.
  • Umbilical cord blood analysis investigates acid-base status.
  • Arterial blood gas measurements and maternal-fetal blood compatibility are carried out through umbilical cord blood analysis .
  • Life-threatening disorders require immediate treatment like acidosis and asphyxia.
  • Acidosis means an abnormal accumulation of acid indicated by a pH less than 7.20.
  • Acidosis is caused by increased hydrogen ion concentration.
  • Asphyxia is a condition of oxygen deficiency, also called hypoxia.
  • Hypercapnia is the condition of increased carbon dioxide in the blood.
  • The Coombs test detects Rh antibodies in maternal blood.
  • The Coombs test helps diagnose hemolytic disease in newborns.
  • The Coombs test determines blood type compatibility.
  • Phenylketonuria (PKU) is an inborn error of metabolism.
  • An enzyme deficiency prevents the change of phenylalanine into tyrosine.
  • Untreated PKU can cause brain damage and mental development delay.
  • Newborns are tested for PKU because symptoms may not appear until four months old.
  • Treatment for PKU begins at birth with a protein-restrictive diet
  • Many reflex patterns mediated by the brain stem and spinal cord are present at birth.
  • Absence or persistence of reflexes may indicate central nervous system damage.

Reflexes

  • The Moro reflex, also called the startle reflex, involves extremity extension/abduction and finger fanning followed by flexion/adduction.
  • The Moro reflex typically disappears around three months.
  • The Dance reflex, also called the stepping reflex, simulates walking when held erect and inclined forward.
  • The Dance reflex disappears between three to six weeks old.
  • The Sucking reflex occurs when anything touches the lips.
  • The Sucking reflex disappears between four and seven months old.
  • The Rooting reflex involves head turning and sucking when the cheek is touched.
  • The Rooting reflex disappears between three and seven months old.
  • The Palmar Grasp reflex is finger flexion caused by palm stimulation.
  • The Palmar Grasp reflex disappears by six months old.
  • The Plantar Grasp reflex involves toe flexion when the sole is stroked.
  • The Plantar Grasp reflex disappears by six weeks old.
  • The Crossed Extension reflex, present in the first two months, involves adduction and extension of one leg when the other is stimulated.
  • The Crawling reflex, also called the symmetric tonic neck reflex, involves assuming a crawl position by extending arms and bending knees when the head and neck are extended.
  • The Crawling reflex disappears with neurologic/muscular development.
  • The Tonic Neck reflex, also called the asymmetric tonic neck reflex, appears at two months and disappears at five months.
  • The Tonic Neck reflex involves extending the arm/leg on the side where the head turns and flexing the opposite side.
  • The Neck Righting reflex appears between four and six months and should no longer be seen at 24 months.
  • The Neck Righting reflex involves shoulders and trunk rotation in the direction of head turning, enabling rolling over from the supine to the prone position.
  • The Landau reflex appears at three months and disappears at 24 months.
  • The Landau reflex involves maintaining a convex arc with the head raised and legs flexed when held prone.
  • The reflex is poor in those with floppy infant syndrome.
  • The reflex is exaggerated in hypertonic and opisthotonic infants.
  • The Parachute reaction or reflex appears at nine months and persists for life.
  • The Parachute reflex involves extending arms, hands, and fingers in a protective movement when dropped.

Glossary of Terms

  • Appropriate for Gestational Age (AGA): Infant with normal intrauterine growth at birth.
  • Fetal Death: Death of the fetus after 20 weeks of gestation and before delivery.
  • Intrauterine Growth Retardation/Restriction (IUGR): Infant with slower than expected intrauterine growth.
  • Low Birth Weight (LBW): Infant with a birth weight less than 2500 grams.
  • Large for Gestational Age (LGA): Infant with a birth weight above the 90th percentile.
  • Neonatal Death: Death in the first 28 days of life.
  • Perinatal Mortality: Number of fetal and early neonatal deaths per 1,000 total births.
  • Small for Date (SFD): Infant with slowed intrauterine growth delivered at term or post-term.

Conditions and Diseases

  • Prematurity: Birth before 37 weeks of gestation due to immature organ development.
  • Treatment: supportive care such as NICU, ventilation, and temperature regulation.
  • Infant Respiratory Distress Syndrome (IRDS): Insufficient surfactant causes difficulty breathing.
  • Premature lungs lack surfactant causing IRDS.
  • Treatment: Surfactant replacement therapy, oxygen, and mechanical ventilation.
  • Bronchopulmonary Dysplasia: Chronic lung disease in premature infants.
  • Prolonged mechanical ventilation and oxygen use causes Bronchopulmonary Dysplasia.
  • Treatment: Oxygen therapy, medications (steroids, diuretics), and nutritional support.
  • Retinopathy of Prematurity (ROP): Abnormal retinal vessel growth causing blindness.
  • High oxygen exposure in premature infants causes ROP.
  • Treatment: Laser therapy, anti-VEGF injections, or surgery.
  • Necrotizing Enterocolitis: Inflammatory intestinal disease.
  • Prematurity, bacterial infection, and formula feeding cause Necrotizing Enterocolitis.
  • Treatment: Bowel rest, antibiotics, surgery for perforation or necrosis.
  • Robinow Syndrome: Genetic disorder causing facial and skeletal abnormalities.
  • Genetic mutation (autosomal dominant/recessive) causes Robinow Syndrome.
  • Treatment: Supportive care, orthodontic, and orthopedic treatments.
  • Hypertrophic Cardiomyopathy: Thickened heart muscle impairs function.
  • Genetic mutation causes Hypertrophic Cardiomyopathy.
  • Treatment: Medications, lifestyle adjustments, surgery, or implantable devices.
  • Down Syndrome: Chromosomal disorder (trisomy 21) causing intellectual disability and physical traits.
  • Trisomy 21 causes Down Syndrome.
  • Treatment: Supportive therapies, surgery for heart defects, and educational interventions.
  • Cerebral Palsy (CP): Group of disorders affecting movement and posture.
  • Brain injury during or after birth causes Cerebral Palsy CP.
  • Treatment: Physical therapy, medications (spasticity control), surgery, and assistive devices.
  • Muscular Dystrophy (MD): Progressive muscle degeneration; Duchenne MD is most common.
  • Genetic mutation in the dystrophin gene causes Muscular Dystrophy.
  • Treatment: Physical therapy, corticosteroids, mobility aids, and experimental gene therapies
  • Spina Bifida Occulta: Mildest form of spina bifida, with incomplete closure of the vertebrae.
  • Neural tube defect causes Spina Bifida Occulta.
  • Often requires no treatment; monitor for complications
  • Meningocele: Sac-like protrusion of meninges through the spine.
  • Neural tube defect causes meningocele.
  • Treatment is surgical repair.
  • Myelomeningocele: Severe form of spina bifida with spinal cord involvement.
  • Neural tube defect causes Myelomeningocele.
  • Treatment: Surgery, physiotherapy, and management of associated conditions (e.g., hydrocephalus).
  • Hydrocephalus: Excess cerebrospinal fluid in the brain ventricles.
  • Blocked CSF flow, overproduction, or poor absorption causes Hydrocephalus.
  • Treatment: Shunting to drain fluid, medications, and treatment of the underlying cause.
  • Anencephaly: Missing parts of the brain and skull.
  • Neural tube defect causes Anencephaly.
  • There is no cure for Anencephaly
  • Treatment: Supportive care or palliative management.
  • Clubfoot (Talipes equinovarus): Abnormal foot positioning, inward rotation.
  • Unknown, possibly genetic/environmental causes of Clubfoot.
  • Treatment: Casting, bracing, or surgery (Ponseti method).
  • Developmental Dysplasia of the Hip (DDH): Hip joint instability or dislocation.
  • Unknown, possibly genetic/environmental causes of Developmental Dysplasia of the Hip.
  • Treatment: Pavlik harness, bracing, or surgery.
  • Cleft Lip and Palate: Openings in the lip and/or roof of the mouth.
  • Genetic and environmental factors cause Cleft Lip and Palate.
  • Treatment: Surgical repair, speech therapy, and dental care.
  • Cryptorchidism: Undescended testes.
  • Unknown, possibly hormonal or anatomical causes of Cryptorchidism
  • Treatment: Hormonal therapy and surgical orchiopexy.
  • Wilms Tumor (Nephroblastoma): Kidney cancer in children.
  • Genetic mutations cause Wilms Tumor.
  • Treatment: Surgery, chemotherapy, and radiation therapy.
  • Phimosis: Inability to retract foreskin over the glans.
  • Natural adhesion or scarring cause phimosis.
  • Treatment: Topical steroids, manual stretching, and Circumcision.
  • Congenital Pyloric Stenosis: Hypertrophy of pyloric sphincter causes gastric obstruction.
  • Unknown, possibly genetic predisposition causes Congenital Pyloric Stenosis.
  • Treatment: Surgical pyloromyotomy.
  • Hirschsprung Disease: Absence of ganglion cells in intestines causes blockage.
  • Genetic mutation causes Hirschsprung Disease.
  • Treatment: Surgical removal of the affected bowel.
  • Cystic Fibrosis (CF): Genetic disorder causing thick mucus in lungs and digestive system.
  • Mutations in the CFTR gene cause Cystic Fibrosis.
  • Treatment: Chest physiotherapy, enzyme supplements, and CFTR modulators.
  • Phenylketonuria (PKU): Metabolic disorder, cannot metabolize phenylalanine.
  • Genetic enzyme deficiency causes Phenylketonuria.
  • Treatment: Protein-restrictive diet and low-phenylalanine foods.
  • Klinefelter Syndrome: Male genetic condition with an extra X chromosome (XXY).
  • Extra X chromosome (nondisjunction) causes Klinefelter Syndrome.
  • Treatment: Testosterone therapy, speech and occupational therapies, and educational support.
  • Turner Syndrome: Female genetic condition missing one X chromosome.
  • A Missing or incomplete X chromosome causes Turner Syndrome.
  • Treatment: Growth hormone therapy, estrogen replacement, and supportive care.

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