Risk factorsfor neonatal sepsis

Signs of sepsisIn neonate

Maternal infections

2 Chlamydial infection (#1 STD in US) : fetus may be infected during birth and suffer neonatal conjunctivitis or pneumonitis, which manifests at 4-6 wks of age PROM , chorioamnionitis, preterm labor

TX erythromycin or amoxicillin (mom)

3 Gonarrhea: fetus may be infected during birth – ophthalmia neonatoriumendocervicitis = PROM and preterm labor

1 Syphillis: may pass through placenta may result in abortion, a stillborn, preterm labor or congenital syphillis (enlarged liver, spleen, skin lesions,rashes, oseteitis, pneumonia, hepatitis

TX penicillin

4 Condyloma acuminatum or genital warts (human pailliomavirus): fetus may beinfected during vaginal birth and develop epithelial tumors of themucous membranes of the larynx in children. PG can cause proliferationHPV associated with cervical dysplasia & cancer (see next slide)

5 tichomoniasis basically associated with PROM and postpartum endometritis

Maternal vaginal infections

Vaginal candidiasis: fetus may be infected during vaginal birthoral candidiasis (thrush) TX for infant MycostatinTX for mom Monistat, Terazole, Femstat

Most say treat for at least 7 daysPROM, preterm labor, low birth weight, postpartum endometritis

UTI’s , cycstitis, acute pyelonephritisPROM, preterm labor

Viral infections remember most virus passes placental barrier

Cytomegalovirus: a member of herpesvirus group. Infects most humans peak ages 15 to 35 yrs. Like most herpes after primary infection, lies latent with periodic reactivation and shedding of the virus.

Fetal & neonatal effects: 2% of all live births may be infected. Theseinfants shed the virus from the nosopharynx and urine for several yrs.Most severe effects: deafness, mental retardation, seizures, blindness & dental bnormalities

TX: gancyclovir for TX of congenitally infected infantsNo screening yet available

Rubella: up to 10% of adults remain susceptibleFetal & neonatal effects: greatest risk is first 3 ms. 1/3 will result inspontaneous abortion, surviving maybe seriously compromised –deafness, mental retardaation, cataracts, cardiac defects, IUGRand mirocephaly. Infants will shed the virus for many months

TX: prevention, A titer of 1.8 or greater provides immunityRubella vaccine after delivery – educate no PG for at least 3 mos. WHY?

Rubella syndrome, or congenital rubella, is a group of physical abnormalities that have developed in an infant as a result of maternal infection and subsequent fetal infection with rubella virus. It is characterized by rash at birth, low birth weight, small head size, heart abnormalities, visual problems and bulging fontanelle.

Varicella – Zoster virus ( herpesvirus) = chickenpox: Acute infection for mom: r\preterm labor, encephalitis & varicella pneumonia. 5 –15% of aduls in US are susceptible

Fetal & neonatal effects. Depend upon time of infection. If in the first 20 wks, the fetus may have congenital varicella syndrome (limb hypo-plasia, cutaneous scars, chorioretinitis, cataracts, microcephal and

symmetric IUGR. In later pregnancy , transplacental passage of maternal antibodies usually protect fetus. However, the infant who

is infected 4-6 days or 2 days after birth will not have the benefitof maternal antibodies, leaving the infant at risk for life-threateningneonatal varicella

TX: immune testing, varicella-zoster immune globulin should be administered to women who have been exposed TX: infants born to mothers infected with varicella during the perinatal period, immunization with varicella-zoster immuni globulin as soon as possible but within 96 hrs after birth.

Live attenuated vaccine after 12 mos through adults, avoid PG for 1 mo aftereach of the two injections, which are given 4 to 8 wks apart.

Herpesvirus serotypes 1 & 2: one of most common sexually transmissibledisease. Most genital warts are type 2. Lesions form at site, begin atpainful papules that progress to vesicles, shallow ulcers, pustules, crusts.Virus is shed until completely healed.lies latent in the sensory ganglion which can be reactivated

Vertical transmission from mom to infant generally occurs: 1 after rupture ofmembranes or 2 during vaginal birth or with fetal scalp electrode

Fetal & neonate effects: Primary infection in first 20 weeks : spontaneous abortion, IUGR and preterm labor. Neonatal herpes is uncommon but potentially devastating. From skin

lesion to systemic or disseminated. If systemic death rate or serioussequelae is 50% . Watch for infection S&S temp instability, lethargy,poor sucking, jaundice, seizure & herpetic lesions.

TX: no known cure although antiviral chemotherapy (acyclovir) Category C May breast feed if no lesions are on breast

Parvovirus: or erythemia infectiosum or fifth disease.highly communicable characterized by “slapped cheeks” appearancefollowed by a generalized maculopapular rash, fever, malaise and joint pain.

Titers can be drawn if exposure during PG Fetal & neonate effects: I/4 to 1/3 of fetuses infected will have transient adverse effects, fetal death rate is less the 5%. Death usually results form failure of fetal RBC production, fetal anemia, hydrops (edema) and heart failure

Hepatitis B : more likely to occur in person with STD, IV drug users & some population groups, Asians, Native Americans, Eskimos, Southeast

Asian and subSaharan African immigrants. Chronic Hepatitis B develops in 1 to 6 % of infected adults who are at a greater risk forchronic liver disease, cirrohosis of the liver, premary hepatocellularcarcinoma

Fetal & neonatal effects: prematurity, low birth weight, and neonatal death increases. Infants born are chronic carriers of hepatitis B. Chronic hepatitis develops in about 90% of infected newborns – likely to have chronic liver disease

TX for Hepatitis B: prevention vaccines of 3 IM injections given during a 6 – 12 mos. period. Screen for HBsAg if at high risk screen again in 3rd trimesterIf mom is known GBsAg positive usually infection of the newborn can be prevented by administration of hepatitis B immune globulin followed by hepatitis B vaccine. Vaccine should be repeated at 1 and 6 mos.Breastfeeding is considered safe as long as the new born has been vaccinated

HIV – human immunodeficiency virus. Fetal & neonatal effects: without prophylactic TX (Zidovudine) has a 20-30% of developing the disease. Typically are asysmptomatic at birth but S&S during first 12 mos. Enlargement of liver, spleen, lymphadenopathy, failure to thrive, persistent thrush, extensive seborrheic dermatitis or cradle cap.

TX: prevention prenatal periodintrapartum period (cesarean birth ? )postpartum period (no breastfeeding)

With Zidovudine throughout PG and L & D. infant TX with zidovudine syrup may test positive at birth but only 2% will remain positiveIf mom contacts HIV virus during PG higher change that infant will be HIV *

Non Viral infections:

Toxoplasmosis: a protozoan infection. Raw or undercooked meat, cat fecescrosses the placental barrier. Flu like symptoms in mom.Can do serologic test

Fetal and neonatal effects: spontaneous abortion or live birth with congenitaltoxoplasmosis - 50% of infants. May be asymptomatic at birth or havelow birth weight, enlarged liver and spleen, jaundice and anemia. Complications chorioretinitis or signs of neuologic damage may beseveral years later.

TX: prevention and education

Group B Streptococcus (GBS): is a leading cause of life threatening perinatal infections. 10 – 30% of women are colonized with GBS in the vaginal or rectal area. Most are asymptomatic or may include UTI,chorioamnionitis

Fetal & neonatal effects: early onset GBS within 7 days of birth, usually 48 hrs. 1 – 2 % will develop early onset GBS, sepsis, pneumonia and meningitis. late onset is after the first week and meningitis is most common manifestation. Permanent neurological consequences may be seen in up to 50% of those who survive

Group B Streptococcus (GBS): is a leading cause of life threatening perinatal infections. 10 – 30% of women are colonized with GBS in the vaginal or rectal area. Most are asymptomatic or may include UTI,

Chorioamnionitis

Fetal & neonatal effects: early onset GBS within 7 days of birth, usually 48 hrs.1–2 % will develop early onset GBS, sepsis, pneumonia and meningitis.late onset is after the first week and meningitis is most commonmanifestation. Permanent neurological consequences may be seen in up to50% of those who survive

TX: prevention, Cultures early and again at 35-37 wks. Intrapartum antibiotics, usually IV penicillin G 5 million units initially and 2.5 million units ever 4 hrs after until birth OR IV ampicillin, 2 g initially and 1g every 4 hrs until birth

Tuberculosis: Fetal & neonatal effects: perinatal infection is uncommon, may be acquired as a result of fetus aspirating amniotic fluid. Signs of congenital TB include TB failure to thrive, lethargy, respiratory distress, fever and enlargement of spleen, liver and lymph nodes. TX: for PG woman isoniazid, pyrazinamide and rifampin every day for 9 mos. Pyridoxine (vit B 6) should be given with isoniazid to prevent fetal nuerotoxicity. Some are using short term therapy – 1 to 2 months of therapy, and then twice weekly therapyTX for neonates. If mom’s sputum is free of organisms, infant does not need to be isolated from mom. Education is vital. Skin test of newborn – may be started on preventive isonaizid therapy. Skin testing again at 3-4 mos. If positive, receive isoniazid for at least 6 mos. If also have HIV should receive therapy for 12 mos. Breastfed infants of mothers taking isoniazid should receive pyridoxine with a multivitamin supplement

The effect of substance abuse on mother & fetus-neonate

Summary of neonatal effects of commonly abused substances

Potential Neonatal effectsof maternalCocaine use

Patient education as well as staff

Drugs contraindicated during breastfeeding

Critical periods in human embryogenesis

Antibodies from an Rh negative mother may enter the blood stream of her unborn Rh positive infant, damaging the red blood cells (RBCs). The infant responds by increasing RBC production and sending out immature RBCs that still have nuclei. This photograph shows normal RBCs, damaged RBCs, and immature RBCs that still contain nuclei.

Erythroblastosis fetalis, photomicrograph

erythroblastosis fetalis

"immune hydrops fetalis "hemolytic disease of the newborn" •lysis of fetal RBCs by maternal IgG antibodies •at risk: caucasians (15%); blacks (6%); Asians (1%)

findings: •anasarca (= skin edema) •fetal ascites •pleural effusion •increased diameter of umbilical vein •subcutaneous edema (skin thickness > 5mm) •polyhydraminos (75%) •placenatomegaly •pericardial effusion •hepatosplenomegaly

fetal hydrops

•immune •Rh sensitization (erythroblastosis fetalis)

•non-immune •thalassemia •structural defects (eg, lung tumor) •cardiac arrhythmia (2' to conduction defect)

•U/S findings: •fetal ascites and/or pleural or pericardial effusion •subQ edema •polyhydramnosis •thick, hydropic placenta

Newborn jaundice (producing yellow skin) can have many causes, but the majority of these infants have a condition called physiological jaundice, a natural occurrence in the newborn due to the immature liver. This type of jaundice is short term, generally lasting only a few days. Jaundice should be evaluated by a physician until decreasing or normal levels of bilirubin are measured in the blood.

Less frequently, when neonatal jaundice is more severe, and ultraviolet light therapy is unable to break down all circulating bilirubin, exchange transfusion is often used. High levels of bilirubin in the blood can lead to brain damage and other serious problems. In these cases, exchange transfusion is a life-saving procedure designed to counteract the effects of serious jaundice, infection, or toxicity. The procedure involves the staged removal of the infant’s blood and replacement with fresh donor blood or plasma. Guidelines for an exchange transfusion include:

•hemolytic disease of the newborn (Rh disease) •life-threatening infection •severe disturbances in body chemistry •toxic effects of drugs •polycythemia

What should you protect & watch for?

protect eyes skin watch for fluid volume deficit

Definition    ABO incompatibility can result when the fetal blood type differs from maternal blood type (that of the mother). Causes and risks A, B and O are the major blood types. ABO incompatibility between the mother and fetus can occur if:

•the mother is O and the fetus is B or A or AB. (most common- represents almost 100% of the cases) •the mother is A and the fetus is B or AB (extremely uncommon) •the mother is B and the fetus is A or AB (extremely uncommon)

In these cases, the mother creates antibodies against the fetus’ incompatible blood type. These antibodies cross the placenta into the fetus’ blood stream where they begin to destroy the fetus’ blood cells.

ABO incompatibility is similar to Rh incompatibility but generally creates much milder problems than Rh incompatibility. Newborn infants affected by ABO incompatibility may have elevated levels of bilirubin and become jaundiced (whites of the eyes and skin become yellow). Severe ABO incompatibility problems may require an exchange transfusion. However, most ABO incompatibility is relatively minor and the jaundice it produces can usually be treated with bili-lights (phototherapy).

Major disorders associated with pathological jaundice

What Are Neural Tube Defects (NTD's)What are NTDs?

Neural tube defects, or NTDs, are birth defects that involve incomplete development of the neural tube, the structure that

becomes the brain and spinal cord. There are several different types of NTDs. Spina Bifida and anencephaly comprise 90 percent of all

NTDs. Encephalocele accounts for the remaining 10 percent. •Spina bifida is a birth defect of the spinal cord that is

sometimes called "open spine." Spina bifida can range from a mild defect that causes no problems, to a serious condition

involving muscle paralysis, loss of feeling, infection and loss of bowel and bladder control. Spina Bifida is the leading cause of

childhood paralysis in the U.S. •Anencephaly is a birth defect resulting in babies being born

with underdeveloped brains and incomplete skulls. Most babies born with anencephaly do not survive more than a few hours

after birth. •Encephalocele is a birth defect that results in a hole in the skull

through which brain tissue protrudes. Babies with encephalocele usually live but they often suffer varying degrees

of mental disability

When and why do NTDs happen?NTDs occur very early in a baby’s development, between the 17th and 30th day after conception. In addition to folic acid deficiency, other factors such as environment, genetics, maternal diabetes, and socioeconomic status may play a role.How many pregnancies are affected by these birth defects?In the United States, about 4,000 pregnancies per year are affected by an NTD. Of these, about 1,500 pregnancies result in miscarriage or stillbirth. About 2,500 babies (about 1 in 1,000) in the United States are born with an NTD each year.Who is at risk of having a baby with an NTD?Any woman can have a baby with an NTD. At particular risk are women who:

•Are of Hispanic ethnicity •Have diabetes •Use valproic acid or carbamazepine to treat seizure disorders •Have an NTD themselves or have a close relative with one

A woman who has had a previous NTD-affected pregnancy is at increased risk of having another such pregnancy. She should consult her doctor before her next pregnancy about the amount of folic acid she should take. Studies have shown that a larger dose of folic acid 4.0 milligrams (4,000 micrograms) beginning at least one month before pregnancy and through the first trimester reduces the risk of having another affected pregnancy by about 70 percent.

What is Anencephaly?Anencephaly is a neural tube defect (a disorder involving incomplete development of the brain, spinal cord, and/or their protective coverings). The neural tube is a narrow sheath that folds and closes between the 3rd and 4th weeks of pregnancy to form the brain and spinal cord of the embryo. Anencephaly occurs when the "cephalic" or head end of the neural tube fails to close, resulting in the absence of a major portion of the brain, skull, and scalp. Infants with this disorder are born without both a forebrain (the front part of the brain) and a cerebrum (the thinking and coordinating area of the brain). The remaining brain tissue is often exposed--not covered by bone or skin. The infant is usually blind, deaf, unconscious, and unable to feel pain. Although some individuals with anencephaly may be born with a rudimentary brain stem, the lack of a functioning cerebrum permanently rules out the possibility of ever gaining consciousness. Reflex actions such as respiration (breathing) and responses to sound or touch may occur. The cause of anencephaly is unknown. Although it is believed that the mother's diet and vitamin intake may play a role, scientists believe that many other factors are also involved. Is there any treatment?There is no cure or standard treatment for anencephaly. Treatment is supportive. What is the prognosis?The prognosis for individuals with anencephaly is extremely poor. If the infant is not stillborn, then he or she will usually die within a few hours or days after birth. What research is being done?The NINDS conducts and supports a wide range of studies that explore the complex mechanisms of normal brain development. The knowledge gained from these fundamental studies provides the foundation for understanding how this process can go awry and, thus, offers hope for new means to treat and prevent congenital brain disorders including neural tube defects such as anencephaly

What are Encephaloceles?Encephaloceles are rare neural tube defects characterized by sac-like protrusions of the meninges (the membranes that cover the brain) and brain tissue through abnormal openings in the skull. The defects are caused by failure of the neural tube to close during the development of the fetus. Symptoms may include hydrocephalus, spastic quadriplegia (paralysis of all 4 limbs), developmental delay, microcephaly, vision problems, mental and growth retardation, ataxia, and seizures. Some affected children may have normal intelligence. Encephaloceles are often accompanied by craniofacial abnormalities or other brain malformations. Is there any treatment?Generally, surgery is performed during infancy to place the protruding tissues back into the skull, remove the sac, and correct the associated craniofacial abnormalities. Hydrocephalus may require a shunt. Other treatment is symptomatic and supportive. What is the prognosis?The prognosis for individuals with encephaloceles varies depending on what brain tissue is involved, the location of the sacs, and the accompanying brain malformations. What research is being done?The NINDS conducts and supports a wide range of studies that explore the complex mechanisms of normal brain development. The knowledge gained from these fundamental studies provides the foundation for understanding how this process can go awry and, thus, offers hope for new means to treat and prevent congenital brain disorders including neural tube defects such as encephaloceles

The rate of spina bifida in 1999 was 20.83 per 100,000 live births. The rate has declined significantly between 1995 and 1999. In 1999, 735 cases of spina bifida were reported. After a decline in the early part of the decade, the anencephalus rate has been stable since 1994. The rate of anencephalus in 1999 was 10.57 per 100,000 live births. There were 373 reports of anencephalus in 1999.Birth certificate data for 1991-98 are final, but data for 1999 are preliminary. The preliminary birth data used here are 97.6% complete. The numbers and rates for all years exclude data for Maryland, New Mexico, and New York, which in various years had either incomplete reporting or did not report these neural tube defects. Both spina bifida and anencephalus are considered underreported on the birth certificate. CDC is continuing to monitor and analyze neural tube defect occurrence data.

Cerebrospinal Fluid (CSF) is a clear, water-like fluid produced primarily within the lateral ventricles of the brain. In each ventricle, small flower-like tufts called choroid plexus produce CSF at a constant rate. The fluid flows through a discrete channel into the space around the brain and spinal cord, where it also functions as a cushion, and it is reabsorbed back into the blood stream. A small amount of CSF is also produced by the spinal cord. The CSF contains important chemicals and carries waste products away from tissues in and around the brain.

Hydrocephalus occurs when CSF accumulates as a result of a blockage in the circulation path or an overproduction. The total volume of CSF is 125-150 ml. The normal resting pressure of the CSF is between 150-180 mm H2O. It has been calculated that 430 to 450 ml of CSF are produced every day.

Ventricles of brain

Treatment by shunting the cerebrospinal fluid (CSF) to another area of the body, generally allows patients to lead full and active lives. There are different kinds and models of shunting systems. Although, shunts were a major medical breakthrough, there are problems that still remain unsolved in the treatment of hydrocephalus, such as shunt obstruction and infection.

An overwhelming majority of newborns with hydrocephalus will have a normal life span and normal or even superior intelligence. In addition, they will enjoy normal activities and be useful members of society. However, there are complications associated with hydrocephalus with learning disabilities being one of the most prevalent.

In most cases, hydrocephalus is not hereditary.

Types of Hydrocephalus

Hydrocephalus is a condition that can exist during one of two stages. It can be congenital, when the condition exists at birth or acquired, when it occurs as the result of a trauma to the brain after birth.

Forms of Hydrocephalus

Hydrocephalus exists in two forms; communicating (non-obstructive hydrocephalus) caused by inadequate absorption of CSF when the ventricular pathways are not obstructed or noncommunicating (obstructive hydrocephalus) caused by blockage in the ventricular pathways through which CSF flows

What is Hydranencephaly?Hydranencephaly is a rare condition in which the brain's cerebral hemispheres are absent and replaced by sacs filled with cerebrospinal fluid. An infant with hydranencephaly may appear normal at birth. The infant's head size and spontaneous reflexes such as sucking, swallowing, crying, and moving the arms and legs may all seem normal. However, after a few weeks the infant usually becomes irritable and has increased muscle tone. After a few months of life, seizures and hydrocephalus (excessive accumulation of cerebrospinal fluid in the brain) may develop. Other symptoms may include visual impairment, lack of growth, deafness, blindness, spastic quadriparesis (paralysis), and intellectual deficits. Hydranencephaly is considered to be an extreme form of porencephaly (a rare disorder characterized by a cyst or cavity in the cerebral hemispheres) and may be caused by vascular infections or traumatic disorders after the 12th week of pregnancy. Diagnosis may be delayed for several months because early behavior appears to be relatively normal. Some infants may have additional abnormalities at birth including seizures, myoclonus (spasm or twitching of a muscle or group of muscles), and respiratory problems. Is there any treatment?There is no definitive treatment for hydranencephaly. Treatment is symptomatic and supportive. Hydrocephalus may be treated with a shunt (a surgically implanted tube that diverts fluid from one pathway to another). What is the prognosis?The outlook for children with hydranencephaly is poor. Death generally occurs before age 1.

Microcephaly is a head size (measured as the distance around the top of the head) significantly below the median for the infant’s age and sex. Significantly below is generally considered to be smaller than 3 standard deviations below the mean, or less than 42 cm in circumference at full growth. It most often occurs because of failure of the brain to grow at a normal rate.

Tetralogy of Fallot is a birth defect of the heart consisting of four abnormalities that results in insufficiently oxygenated blood pumped to the body. It is classified as a cyanotic heart defect because the condition leads to cyanosis, a bluish-purple coloration to the skin, and shortness of breath due to low oxygen levels in the blood. Surgery to repair the defects in the heart is usually performed between 3 and 5 years old. In more severe forms, surgery may be indicated earlier. In most cases the heart can be surgically corrected and the outcome is good.

Tetralogy of Fallot is a birth defect of the heart consisting of four abnormalities that results in insufficiently oxygenated blood pumped to the body. At birth, infants may not show the signs of the cyanosis but later may develop episodes of bluish skin from crying or feeding called "Tet spells".

Ventricular septal defect is a congenital defect of the heart, that occurs as an abnormal opening in the wall that separates the right and left ventricles. Ventricular septal defect may also be associated with other heart defects. Many small defects will close on their own. For those defects that do not spontaneously close, the outcome is good with surgical repair.

Clubbing seen with chronic oxygen deprivation

The cause of choanal atresia is unknown, but the condition is the most common nasal abnormality seen in the newborn infant. Choanal atresia may be either on one side or on both sides.

The newborn must be able to breathe through its nose. In fact, almost the only time an infant does not breathe through its nose is when the baby is crying. Choanal atresia blocking both sides of the nose causes acute breathing problems, with cyanosis and breathing failure. Infants with bilateral choanal atresia may need resuscitation at delivery.

Blockage on only one side causes less severe problems. Choanal atresia is generally recognized shortly after birth while the infant is still in the hospital.

Symptoms   •present in the newborn infant •difficulty breathing following birth unless infant is crying •inability to nurse and breathe at same time •marked retraction of chest unless breathing through mouth or crying •nurse is unable to pass a catheter through each side of the nose into the throat

Choanal atresia, especially when it affects both sides, is generally diagnosed shortly after birth while the infant is still in the hospital. One-sided atresia may be relatively symptom-free, and these infants may be sent home without diagnosis. If your infant exhibits any of the problems listed here, consult your health care provider

The chest cavity includes the heart and lungs. The abdominal cavity includes the liver, the stomach, and the small and large intestines. The two regions are separated by the diaphragm, the large dome-shaped muscle.

When the diaphragm develops with a hole in it, the abdominal organs can pass into the chest cavity. The lung tissue on the affected side is compressed, fails to grow normally, and is unable to expand after birth. As the child begins to breathe, cry, and swallow, air enters the intestines that are protruding into the chest. The increasing size of the intestines puts pressure on the other side of the chest, lung, and heart and can quickly cause a life-threatening situation.

An incision is made in the upper abdomen, under the ribs. The abdominal organs are gently pulled down through the opening in the diaphragm and positioned into the abdominal cavity.

The hole in the diaphragm is repaired and the incision is stitched closed. A tube is placed in the chest to allow air, blood, and fluid to drain so the lung can re-expand.

The lung tissue may be underdeveloped on the affected side, and the outcome depends upon the development of the lung tissue. Infants who survive may have some long-term lung disease.

Diaphragmatic hernia – that takes up more thoracic room

An oral-facial cleft is an opening in a structure around the mouth and face. Clefts may occur in the lip, the roof of the mouth (hard palate) or the tissue in the back of the mouth (soft palate). There are two major types of oral-facial clefts. In one, the baby has a cleft lip which usually is accompanied by cleft palate. This is called cleft lip/palate. In the other, called isolated cleft palate, cleft palate occurs by itself, without cleft lip. The two forms of oral-facial clefts are considered separate birth defects.

These openings are normally present in early fetal development. The lip usually closes by 5 to 6 weeks after conception, and the palate by 10 weeks. The lip or the lip and palate together fail to close in approximately 1 in every 1,000 white babies born. Cleft lip/palate occurs more often among Asians (about 1.7 per 1,000 births) and certain groups of American Indians (more than 3.6 per 1,000 births) than among whites. It occurs less frequently among African-Americans (approximately 1 per 2,500 births). Males are affected more frequently than females.Cleft palate occurs alone less often, appearing in about 1 in 2,000 babies. Unlike cleft lip/palate, the risk for isolated cleft palate appears to be similar across all racial groups. Another difference from cleft lip/palate is that females are affected more often than males.

Cleft lip / palate

What causes cleft lip/palate?The causes of cleft lip/palate are not well understood. Studies suggest that a number of genes, as well as environmental factors, such as drugs (including antiseizure drugs), infections, maternal illnesses, maternal alcohol use and, possibly, deficiency of B vitamin folic acid may be involved.As indicated earlier, cleft lip/palate may occur alone or with other abnormalities that may be hidden or obvious. Up to 13 percent of babies with cleft lip/palate have other birth defects. Some cases involve genetic syndromes which may pose specific, additional problems for the affected baby, and may have a high risk of affecting others in the family. For this reason, babies with cleft lip/palate should be thoroughly examined by a doctor soon after birth.

Can oral-facial clefts be repaired?Surgery often is used to correct cleft lip/palate and isolated cleft palate. The timing and type of surgery depend on a number of factors, including the preference of the individual surgeon, the general health of the baby and the nature of the cleft. Most surgeons agree that cleft lip should, in most cases, be repaired by about three months of age. Cleft palate repair is generally timed to restore the partition between the nose and mouth as early as possible (often between 9 and 18 months). Additional surgical procedures often are needed as the child grows.

What about ear problems?Babies with cleft palate (whether part of cleft lip/palate or isolated) are especially susceptible to middle ear disease. The cleft can contribute to a buildup of fluid in the middle ear which can cause mild to moderate hearing loss. If the fluid becomes infected, the baby can develop fever and an earache.If treated properly in infancy and childhood, the hearing loss need not be permanent. If not properly managed, speech development may be affected and hearing loss may become permanent.All babies with cleft palate should be examined by an otolaryngologist within the first 3 to 6 months of life. If fluid in the ear is detected, it often can be treated with medications or, in some cases, with a minor surgical procedure to drain the fluid. In persistent cases, the doctor may insert a tiny tube into the eardrum to drain fluids and help prevent infections.

How is speech affected by clefts?

Children with cleft lip generally have normal or near-normal speech. Some children with cleft palate (isolated or as part of cleft lip/palate) may develop speech a little more slowly than other children. Their words may sound nasal and they may have difficulty producing some consonant sounds. However, after cleft palate repair, most children eventually catch up and develop normal speech, though some will require speech therapy.

What about dental problems?

Children whose cleft lip/palate extends into the upper gums (which contain the teeth) have special dental problems. Some primary and permanent teeth may be missing, abnormally shaped, or out of position around the cleft. Some children with isolated cleft palate also have missing teeth.

 Fortunately, these problems generally can be satisfactorily treated with ongoing care by a team of experts, including a pediatric dentist (for routine care), an orthodontist (to reposition teeth using braces), and an oral surgeon (to reposition segments of the upper jaw, when needed, to improve function and appearance and to repair the cleft of the gum).

Trisomy 21; Mongolism Definition   A chromosome abnormality resulting in mental retardation and other abnormalities. Causes and risks   In most cases, Down syndrome is caused by an extra chromosome 21. Downs children have a widely recognized characteristic appearance. The head may be smaller than normal (microcephaly) and abnormally shaped. Prominent facial features include a flattened nose, protruding tongue, and upward slanting eyes (Mongolian slant). The inner corner of the eyes may have a rounded fold of skin (epicanthal fold) rather than coming to a point. The hands are short and broad with short fingers and often have a single palmar crease (simian crease). Retardation of normal growth and development is typical and most affected children never reach average adult height. The average mental age achieved is 8 years old.

Congenital heart defects are frequently present in these infants. Early mortality is often a result of cardiac abnormalities. Gastrointestinal abnormalities such as esophageal atresia(obstruction of the esophagus) and duodenal atresia (obstruction of the duedenum) are also relatively common. Obstruction of the gastrointestinal tract may require major surgery shortly after birth. Children with Down’s syndrome also have a higher than average incidence of acute lymphocytic leukemia (ALL).

Symptoms   •Decreased muscle tone at birth •sutures - separated •asymmetrical or odd-shaped skull

•round head with flat area at the back of the head (occiput) •small skull (microcephaly)

•slanting eyes, unusual for ethnic group (often called Mongolian slant or upward slant) •small mouth with protruding tongue (see tongue problems) •broad short hands •single crease on the palm (simian crease) •Retarded growth & development•delayed mental and social skills (mental retardation) •Iris lesion (an abnormality of the colored part of the eye, called Brushfield spots)

Down’s Syndrome

ENLARGEMENT OF THE TONGUE occurs with Down’s syndrome

Risk factorsfor neonatal sepsis

Signs of sepsisIn neonate