Oct 2015

Prepared by :

Ayda khader

Congenital abnormalitiesCongenital abnormalities

Out linesObjective Communicating the newPrenatal screening Chromosomal abnormalityGastrointestinal defectRespiratory abnrmality Congenital cardiac defect Central nervous system abnormalityRenal and genitourinary system defectSupport for the midwife

objectivesobjectives

address issues such as who should tell the parents and how and when they should be told

describe and explain specific congenital abnormalities

explore the complementary roles of the midwife and paediatrician in providing care

consider the psychological impact on staff and the strategies that could be put in place to minimize the accompanying stress

midwife who first notices an abnormality in the baby either during the process of the birth or on routine newborn examination.

there is sometimes a difference of opinion as to who should communicate the news to the parents

The midwife–client relationship ought to be, one of mutual trust and respect. Honesty is an implicit tenet of such a relationship

the midwife tells both parents sensitively but honestly that she has concerns, and shows them any obvious abnormality in the baby.

midwife be present when an paediatrician examines the baby and during any dialogue between the parents and medical staff so that she is aware of exactly what has been said

Some abnormalities are slight and cause no further problems for the parents or child, whereas others are profound and cause the subsequent daily care to be fraught with difficulties.

abnormalities involving the face cannot be hidden and most distressing for parents

The psychological impact on parents of being told or shown

Great sensitivity is required when showing the baby to the parents for the first time.

families receive accurate,and appropriate information about their baby's condition

the midwife is most likely to encounter in any discussion

FACTSAn estimated 276 000 babies die within 4 weeks of

birth every year, worldwide, from congenital anomalies.

Congenital anomalies can result in long-term disability, which may have significant impacts on individuals, families, health-care systems and societies.

The most common severe congenital anomalies are heart defects, neural tube defects and Down syndrome.

Although congenital anomalies may be genetic, infectious, nutritional or environmental in origin, most often it is difficult to identify the exact causes.

Some congenital anomalies can be prevented. For example, vaccination, adequate intake of folic acid or iodine through fortification of staple foods or provision of supplements, and adequate antenatal care are keys for prevention.

What is birth defect ?

Any abnormality of structure, function or body metabolism (in born error of body metabolism)present at birth that results in physical or mental disability or is fatal

What Causes birth defect ?

1. 1-Genetic factors such as chromosomal abnormalities and mutant genes.

2. 2-Environmental factors e.g.: the mother had German measles in early pregnancy will cause abnormality in the embryo.

3. 3-Combined genetic and environmental factors (mutlifactorials factors).

Although approximately 50% of all congenital anomalies cannot be linked to a specific cause, there are some known causes or risk factors.

Asingle abnormal gene can cause birth defect .Every human being has about 100,000 genes that determine traits like eye ,color ,hair ,ect.

Can birth defect be Prevented?• Preventive public health measures delivered through

health services decrease the frequency of certain congenital anomalies. Primary prevention of congenital anomalies includes:

improving the diet of women throughout their reproductive years, ensuring an adequate dietary intake of vitamins and minerals, and particularly folic acid, through daily oral supplements or fortification of staple foods such as wheat or maize flours

ensuring mothers abstain from, or restrict, their intake of harmful substances, particularly alcohol;

controlling preconceptional and gestational diabetes, through counselling, weight management, diet and administration of insulin when needed;

avoiding environmental exposure to hazardous substances (e.g. heavy metals, pesticides) during pregnancy;

ensuring that any exposure of pregnant women to medications or medical radiation (e.g. imaging rays) is justified, based on careful health risk–benefit analysis;

improving vaccination coverage, especially against the rubella virus, for children and women.

increasing and strengthening education of health staff and others involved in promoting prevention of congenital anomalies.

Preventing Birth DefectsPreventing Birth Defects

• Eat well during pregnancy• Avoid marrying close relatives• Consider not having children after age 35 or 40• Avoid all medicines during pregnancy• Avoid contact with pesticides and other poisons• Avoid tobacco and alcohol• While pregnant, stay away from children with

German measles

Can some birth defect be diagnosis befor birth ?

some birth defect can be diagnosed befor birth some prenatal tests that can be taken are: Amniocentesis Ultrasound Choronic villus sampling

PRENATAL DIAGNOSISPRENATAL DIAGNOSIS• Methods of prenatal diagnosis are divided into invasive and non-invasive

techniques.• Technique Time Disorders diagnosed (in weeks)• A. Non-invasive:• Maternal serum screen:• Alpha feto protein (AFP) 16 Neural tube defects (NTD)• Triple test 16 Down syndrome• Ultrasound 18 Structural defects in many organs as CNS, heart, kidney, and limbs.

• B. Invasive:• - Amniocentesis 14-16 Chromosomal and metabolic abnormalities, and DNA analysis.• - Chorionic villus sampling 10-12 As amniocentesis.• - Fetal blood sample near term As amniocentesis + blood • disorders.

Can birth defect be treated before birth?

Advances in prenatal therapy now make it possible to treat some birth defect before birth

Prenatal surgery-urinary tract blockage ,rare tumors in lungs, spina bifida

Types of Birth Defect

1-Malformations present at birth

Defect such as cngenital heart malformation ,spina bifida,cleft palate,clubfoot

2-Inborn errrors of metabolism

Defects such as PKU ,Galactosemia ,ect

3-Blood Disorders

Defect such as sickle cell anemia, hemophilia, thalasemia.

4- Chromosomal Abnormalities

Condition such as Down syndrom , Edward syndrome ,Patau syndrome Turner syndrome (XO), Klinefelter syndrome (XXY)

,

Chromosomal abnormalitiesTrisomy 21 (Down syndrome)Common if baby has young or old parents .also have a higher incidence of cardiac

anomalies, cataracts, hearing loss, leukaemia and hypothyroidism.

Intelligence quotient is below average, at 40–80.Parents who have a baby with Down syndrome,

therefore, should be offered genetic counselling to establish the risk of recurrence.

The overall incidence of Down syndrome is 1 in 700.

Not all of these manifestations need be present

• Appears at birth widely set and obliquely slanted eyes, small nose and thick rough tongue.

• a small head with flat occiput, squat broad hands with an incurving little finger,

• a wide space between the thumb and index finger, a single palmar (simian) crease,

Trisomy 18 (Edwards syndrome)This condition is found in about 1 in 5000 births. An extra 18th chromosome is responsible for the

characteristic features. The lifespan for these children is short and the

majority die during their 1st year. The head is small with a flattened forehead, a

receding chin and frequently a cleft palate. The ears are low set and maldeveloped. Mental deficiency; growth retardation; prominent occiput; short sternum; ventricular

septal defect ,micrognathia, flexed digits,

Trisomy 13 (Patau syndrome)An extra copy of the 13th chromosome leads to

multiple abnormalities. These children have a short life. Only 5% live beyond 3 years. Affected infants are small and are microcephalic. Midline facial abnormalities such as cleft lip and palate are common and limb abnormalities are frequently seen. Brain, cardiac and renal abnormalities may coexist with this trisomy.

Turner syndrome (XO) In this monosomal condition, only one sex

chromosome exists: an X. The absent chromosome is indicated by ‘O’. The child is a girl with a short, webbed neck, widely spaced nipples and oedematous feet. The genitalia tend to be underdeveloped and the internal reproductive organs do not mature. The condition may not be diagnosed until puberty fails to occur. Congenital cardiac defects may also be foundMental

development is usually normal.

Klinefelter syndrome (XXY)This is an abnormality affecting boys diagnosed

until pubertal changes fail to occur.Small testes, aspermatogenesis; Often tall with disproportionately long lower limbs. Intelligence is less than in normal siblings.Approximately 40% of these males have

gynecomastia

L/O/G/O

Gastrointestinal malformationsGastrointestinal malformations

1. Cleft lip and cleft palateThe incidence of C/L is 1.3 in 1000. This defect may be unilateral or bilateral. it is very often accompanied by cleft palateMales 3 to 1 femaleFamilial history Often diagnosed in utero by ultra sound at 12wkclosure of the cleft lip within 2 weeks of birth

Cleft lip Incomplete fusion of the primitive oral cavity Extending into the base of the nose.Obvious at birth Infant may have problem with sucking Surgery in 3 to 4 monthsGoalsof surgery

1-close the defect

2-symmetrical appearance

of face

60% to 80% of children born with cleft lip and palate

are male.

Unilateral clefts are nine times more

common than bilateral clefts.

Cleft palate occurs when the palatine fail to migrate and

fuse between the 7 and 12 week of gestationDiagnosed by looking into infant mouth Middle ear infection is a concomitant risk for

babies with cleft palateClosure of C/P is suggested at 12–15 monthsAfter teeth have erupted and before to promote

better speech out comesBabies should be weaned from

bottle or breast prior to the

surgical procedure

Why CP more serious thanCL ?

Why CP more serious than CL ?

It interferes more with feeding and breathing, more difficult to repair.

Post surgery care Airway management Pain control Position upright Minimizing cryingWound care Feeding technigue

Pre-surgery feeding :• alternate nipple design • Breast feeding consultant• ESSR(enlarge , stimulate, swallow, rest)

Post-surgery repair:• Position on side• NPO for 48 hour • Suction with bulb syringe only• avoid injury to palate with syringes,cups• Use special feeding appliances.

Is a protrusion of a portion of an organ or organs through an abnormal opening.

through The diaphragm, The abdominal wall, The inguinal canal.

2 .Hernias 2 .Hernias

Diaphragmatic HerniasProtrusion of abdominal content into chest

cavity through opening in diaphragm.

Symptoms Mild to severe respiratory

distressChest appears barrel –likeAbdomin is sunken Decrease breath sound.Bowel sound in chest

Diagnosis Symptoms Chest X-ray will confirm the diagnosisPrenatally as early as 25 week of gestation.

Therapeutic Supportive treatment of respiratory distress

(Use of end tracheal intubation, oxygenation).Prophylactic antibiotics.Umbilical artery catheterSurgical reduction of hernia and repair of defect.

Surgical repair of the defect is necessary, but this is not urgent. It is more important to stabilize the baby's general condition before surgery.

Inguinal Hernia Most common congenital anomaly Its protrusion of peritoneal sac into the

processus vaginalis Most in male and preterm

Umbilical Hernia Weakness in abdominal wall around

umbilicus, incomplete closure of abdominal wall allowing intestinal contents to protrude through opening.

Symptoms Noted by inspection

and palpation of the abdomen.High incidence in premature.

The esophagus instead of being an open tube from the throat to the stomach is closed at some point. A fistula is common between the trachea and esophagus.

Clinical manifestationInfant has a lot . Coughing, choking, cyanosis, Apnea Abdominal distention.

3 .Esophageal Atresia 3 .Esophageal Atresia

Tracheo-esophagesl fistula TEF 85 to 90% of defect from atresia Excessive drooling /frothy mucus Inability to bass NGT Choking and cyanosis with feeding High risk for respiration of HCL from

stomach lead to chemical pnemonia

Nursing alert Nursing alert

Any infant who has an excessive amount of

frothy saliva in the mouth or difficulty with

secretions and unexplained episodes of

cyanosis should be suspected of having an

EA/TEF and referred immediately for medical

evaluation

• Maintenance of a patent airway.• Prevention of pneumonia. • Surgical repair of the anomaly.• Avoid oral intake, started IV fluids.• Removal mouth secretion by suction.• Broad spectrum antibiotic therapy.• Gastrostomy and ligation of the TEF.

Therapeutic Management Therapeutic Management

The rectum and urinary tract separate completely by the seventh week of gestation.

4 .Anorectal malformations 4 .Anorectal malformations

Abnormal development of genitourinary and pelvic

organs .

Is the most common congenital anomaly of GIT in newborn.

Diagnosis There is no anal opening.The nurse is unable to insert the

thermometer.No passage of meconium.Later on abdominal distention and pain

occur.

Imperforate anus Imperforate anus

Imperforate anusImperforate anus

If a baby fail to pass meconium in the first 24 hrs, three other possibilities should be considered:

• malrotation/volvulus• meconium ileus (cystic fibrosis)• Hirschsprung's disease.

Malrotation/volvulus It is a developmental abnormality where

incomplete rotation of the small bowel There is often bilious vomiting and abdominal

distension risks of severe bowel damage secondary to the

obstruction of blood flow so Surgical assessment and correction are

necessary

Meconium ileus (cystic fibrosis) Cystic fibrosis is an autosomal recessive condition affecting 1 in 2500 births. not diagnosed until later in infancy or childhood

when the child failed to thrive or had repeated chest infections

the meconium is particularly viscous and causes intestinal obstruction.

definitive diagnosis is not usually possible until a sweat test has been carried out at 4–6 weeks of age.

Treatment of cystic fibrosis is supportive rather than curative and involves administration of pancreatic enzymes

Hirschsprung's diseaseincidence of 1 in 5000 births,Lack gangolion cell in colon peristalsis does not occur and the bowel

therefore becomes obstructed. No meconium in first 24 hoursThe baby develops abdominal distension

and bile-stained vomiting. diagnosis is made bya rectal biopsy. Resection of the aganglionic segment of

bowel is indicated.

Pyloric stenosis• Pyloric stenosis arises from a genetic defect

that causes hypertrophy of the muscles of the pyloric sphincter.

• More commen in male • projectile vomiting usually at around 6 weeks

of age, but it may occur earlier• Olive shape mass in upper abd to the midline• electrolyte imbalance • Manage supportive and surgery

Exomphalos (Omphalocele) is a defect in which the bowel or other

viscera protrude into the base of umbilical cord

often these babies have other abnormalities eg, heart defects, which could be a contraindication to surgery in the immediate neonatal period.

Closure of the defect may consequently be delayed as long as 1 or even 2 years

Gastroschisis defect of the abdominal wall that allows

the bowel to protrude out side the body not covered by peritoneum Defect does not involve the umbilicus it very vulnerable to infection and injury.

Surgical closure of

Intrvention: immediate management of the conditions is to

cover the herniated abdominal contents with clean cellophane wrap or warm sterile saline dressing to reduce fluid and heat losses and to give a degree of protection.

New standard : put baby in small bag to retain heat and keep intestine warm nasogastric tube should be passed and stomach contents aspirated.

Surgery can repaired with one stage If large defect can be gradual return the bowel to

the abdominal cavity .

L/O/G/O

Respiration malformationsRespiration malformations

Abnormalities relating to respirationMaking a successful transition from fetus

to neonate includes being able to establish regular respiration.

Any abnormality of the respiratory tract or accessory respiratory muscles is likely to hamper this process.

Diaphragmatic hernia Choanal atresia Laryngeal stridor

Choanal atresia a unilateral or bilateral narrowing of the

nasal passage with a web of tissue or bone occluding the nasopharynx

Tachypnoea and dyspnoea diagnosis by noting that the baby mouth breathes and finds

feeding impossible without cyanosis baby's colour will improve with crying nasal catheters cannot be passed into the pharynx

Surgery will be required to remove the obstructing

tissue.

Laryngeal stridorIt is a noise on inspiration and exacerbated by

crying. Most commonly the cause is laryngomalacia,

which is due to laxity of the laryngeal cartilage. Although it sounds distressing,

the baby generally is not at all upset. It is the parents who require comforting and

reassurance (often repeatedly).stridor may take some time to resolve, perhaps

up to 2 years.

If, the stridor is accompanied by signs of dyspnoea or feeding

problems, further investigations such as bronchoscopy or laryngoscopy

would become necessary to rule out a more sinister cause

L/O/G/O

Congenital cardiac defectsCongenital cardiac defects

Babies born with congenital heart defects is the second largest group of babies born with abnormalities.

Incidence 8/1000 live births have some degree of congenital heart disease

about one-third of these babies will be symptomatic in early infancy.

The critical period of exposure to teratogens in respect of embryological development of cardiac tissue is from the 3rd to the 6th week.

L/O/G/O

Thank You!Thank You!

With best wishes ,Ayda khader 2015