Congenital Birth Defects PDF

Bi h defects (Congenital anomalies)  Bir th defects are abnormal growth changes in the body that happen during fetal development.  A bir th defect, or congenital anomaly, is any medical condition a person has from bi h. Congenital means acquired in the womb.  These medical conditions range fr...

Bi h defects (Congenital anomalies)  Bir th defects are abnormal growth changes in the body that happen during fetal development.  A bir th defect, or congenital anomaly, is any medical condition a person has from bi h. Congenital means acquired in the womb.  These medical conditions range from mild to more severe. Some af fect the organs or a single body pa  Congenital anomalies a ect around 3% of pregnancies.  A healthcare provider can detect bir th defects during pregnancy, or after baby is born or later during child’s life.  Most providers identify a bi h defect within the child’s rst year. Not all bi h defects are visible.  While some bir th defects can be life-threatening ‫ ﺗﻬﺪﺩ ﺣﻴﺎﺓ ﺍﻟﻄﻔﻞ‬the impact they have on child’s life varies based on their diagnosis.  Some bir th defects only change child’s appearance, while others can a ect the way they think, move and function.  Types of Congenital anomalies  Structural  hea defects  spina bi da  cleft lip or palate clubfoot.  Developmental.   Down syndrome:  Visual impairments:  Hearing impairments:  Fetal alcohol spectrum disorders:  Cerebral palsy:  Muscular dystrophy:  Genetic disorders:.  Speci c language impairment  Structural and developmental e ects.  1. A congenital hea defect (CHD)  Aor t ic Valve Stenosis (AVS) : The aor tic valve from the hear tto the body becomes narrow or my be closed. When the blood f lowing out from the hear tis trapped by a poorly working valve, pressure may build up inside the hea and cause damage.  Pulmonar yValve Stenosis: A thickened or fused hear tvalve that does not fully open. The pulmona valve allows blood to ow out of the hea , into the pulmona a e and then to the lungs.  Atrial Septal Defect (ASD): A "hole" in the wall that separates the top two chambers of the hear t. This defect allows oxygen-rich blood to leak into the oxygen-poor blood chambers in the hear t. ASD is a defect in the septum between the hear t's two upper chambers (atria). The septum is a wall that separates the hea 's left and right sides.  Ventricular Septal Defect (VSD): VSD is a hole in the wall separating the two lower chambers of the hea. In normal development, the wall between the chambers closes before the fetus is born, so that by bir th, oxygen-rich blood is kept from mixing with the oxygen-poor blood. When the hole does not close, it may cause reduced oxygen to the body.  Complete Atrioventricular Canal defect (CAVC): a ecting all four chambers where they would normally be divided. A large hole in center of the hea  :Cyanotic congenital heart disease: involves heart defects that reduce the amount of oxygen delivered to the rest of the body.  Acyanotic congenital hear tdisease: With this type of hear tdefect, blood contains enough oxygen, but it's pumped throughout the body abnormally  Symptoms of Cyanotic hea disease  a bluish lips, ngers, and toes, called cyanosis  small size or low body weight  delayed growth, di culty feeding, and poor appetite, in infants  a low concentration of oxygen in the body, leading to hype ventilation.‫ﺯﻳﺎﺩﺓ ﻓﻰ ﻣﻌﺪﻝ ﺍﻟﺘﻨﻔﺲ ﻣﻊ ﻧﻬﺠﺎﻥ‬  sweating, especially during feedings  chest pain  Fainting ‫ﺇﻏﻤﺎﺀ‬  di culty breathing Symptoms of acyanotic hea disease  Breathlessness ‫ﺿﻴﻖ ﻓﻰ ﺍﻟﻨﻔﺲ‬, especially during physical activity  sweating, especially during feedings  a slow growth rate and a low body weight  di culty feeding and poor appetite, in infants  extreme tiredness ‫ﺗﻌﺐ ﺍﻭ ﺍﺟﻬﺎﺩ ﺷﺪﻳﺪ‬  chest pain  Risk factors For CHD A CHD usually develops during the early stages of development.  There is a higher risk if the pregnant person:  has rubella, or German measles ‫ﺗﻌﺮﺽ ﺍﻻﻡ ﻟﻠﺤﺼﺒﺔ ﺍﻷﻟﻤﺎﻧﻴﺔ‬  has diabetes, including gestational diabetes, that is not managed well  takes cer tain medications, such as isotretinoin (Accutane), a medication mainly for severe acne  consumes large amounts of alcohol  Genetics (Like trisomy of chromosomes No. 21, 18) may also play a role at least 15%Trusted Source of people with a CHD also have a genetic disorder. Diagnosis of CHD  Before bi h  Routine ultrasound scans during pregnancy can give information about the structure of the fetal hea.  fetal echocardiographyTrusted Source  After bi h  Obse ation of recognizable symptoms,  Echocardiography is an imaging technique that uses owned waves to create a moving image of the hea  II. Spina bi da Spina bif ida is a bir th defect that occurs when the spine and spinal cord don't form properly. It's a type of neural tube defect.  The neural tube is the structure in a developing embr yo that eventually becomes the baby's brain, spinal cord and the tissues that enclose them.  Typically, the neural tube forms early in pregnancy and it closes by the 28th day after conception.  In babies with spina bif id a, a por tion of the neural tube doesn't close or develop properly, causing problems in the spinal cord and in the bones of the spine.  Spina bif ida can range from mild to severe, depending on the type of defect, size, location and complications.  Early treatment for spina bif ida involves surger y— although such treatment doesn't always completely resolve the problem.  Types of Spina bi da as follows Spina bifida can occur in different types 1. Spina bi da occulta Spina bif ida occulta means hidden. It's the mildest and most common type. Spina bif ida occulta results in a small separation or gap in one or more of the bones of the spine (ve ebrae). Many people who have spina bi da occulta don't even know it, unless the condition is discovered during an imaging test done for unrelated reasons. 2. Myelomeningocele Also known as open spina bif ida, myelomeningocele is the most severe type. The spinal canal is open along several ver tebrae in the lower or middle back. The membranes and spinal ne ves push through this opening at bi th, forming a sac on the baby's back, typically exposing tissues and ne ves) Cerebral spinal luid + ne ve tissues(. This makes the baby prone ‫ ﻋﺮﺿﺔ ﺍﻟﻄﻔﻞ‬to life-threatening infections and may also cause paralysis and bladder and bowel dysfunction. 3. Meningocele This rare type of spina bif ida is characterized by a sac of spinal f luid (cerebral spinal f luid only ) bulging through an opening in the spine. No ner ves are af fected in this type, and the spinal cord isn't in the f luid sac. Babies with meningocele may have some minor problems with functioning, including those af fecting the bladder and bowels.  Symptoms of Spina Bi da Signs and symptoms of spina bif ida var yby type and severity, and also between individuals.  Spina bi da occulta.  No signs or symptoms because the spinal ner ves aren't involved. But can see signs on the newborn's skin above the spinal problem, including a tuft of hair, a small bi thmark ‫ﺣﻤﻰ ﺧﻔﻴﻔﺔ‬.  Sometimes, these skin marks can be signs of an underlying spinal cord issue that can be discovered with MRI or spinal ultrasound in a newborn.  Meningocele.  This type may cause problems with bladder and bowel function.  Myelomeningocele. In this severe type of spina bi da:  The spinal canal remains open along several ver te brae in the lower or middle back  Both the membranes and the spinal cord or ner ve s protrude at bir th, forming a sac  Tissues and ner ves usually are exposed, though sometimes skin covers the sac  Causes and Risk factors for Spina Bi da Although doctors and researchers don't know for sure why spina bif ida occurs, they have identi ed some risk factors: 1. Folate de ciency.  Folate, the natural form of vitamin B-9, is impor tant to the development of a healthy baby. The synthetic form, found in supplements and for tif ied foods, is called folic acid. A folate def iciency increases the risk of spina bif ida and other neural tube defects. 2. Family histo of neural tube defects.  Couples who've had one child with a neural tube defect have a slightly higher chance of having another baby with the same defect.  Women who were born with a neural tube defect have a greater chance of giving bir th to a child with spina bif ida than someone who doesn't have a neural tube defect. 3. Some medications.  For example, anti-seizure medications ‫ﺍﺩﻭﻳﺔ ﺍﻟﺘﺸﻨﺠﺎﺕ ﻭﺍﻟﺼﺮﻉ‬, such as valproic acid seem to cause neural tube defects when taken during pregnancy. This might happen because they inter fere with the body's ability to use folate and folic acid. ‫ﻻﻧﻬﺎ ﺗﻘﻠﻞ ﻣﻦ ﺍﻣﺘﺼﺎﺹ ﺣﻤﺾ ﺍﻟﻔﻮﻟﻴﻚ‬ 4. Diabetes.  unknown relation). Other researchers suggest diabetes induce neuro- inflammation Women with diabetes who don't have well-controlled blood sugar have a higher risk of having a baby with spina bifida ( 5. Obesity.  Pre-pregnancy obesity is associated with an increased risk of neural tube bi h defects, including spina bi da. 6. Increased body temperature.  Some evidence suggests that increased body temperature (hyper thermia) in the early weeks of pregnancy may increase the risk of spina bi da. Increases in core body temperature, due to fever or use of a sauna, have been associated with a slightly increased risk of spina bi da.  Complications of Spina Bi da  Walking and mobility problems. The ner ves that control the leg muscles don't work properly below the area of the spina bif ida defect. This can cause muscle weakness of the legs and sometimes paralysis. Whether a child can walk typically depends on where the defect is, its size, and the care received before and after bi h.  O thopedic complications.‫ﻣﻀﺎﻋﻔﺎﺕ ﻋﻠﻰ ﺍﻟﻌﻈﻢ‬ Children with myelomeningocele can have a variety of problems in the legs and spine because of weak muscles in the legs and back. The types of problems depend on the location of the defect. Possible problems include o hopedic issues such as: Cu ed spine (scoliosis)  Abnormal growth  Dislocation of the hip  Bone and joint deformities  Muscle contractures ‫ﺗﻘﻠﺺ ﺑﻌﺾ ﺍﻟﻌﻀﻼﺕ‬   Bowel and bladder problems. Ner ves that supply the bladder and bowels usually don't work properly when children have myelomeningocele. This is because the ne es that supply the bowel and bladder come from the lowest level of the spinal cord.  Accumulation of uid in the brain (hydrocephalus). Babies born with myelomeningocele commonly experience accumulation of f luid in the brain, a condition known as hydrocephalus.‫ﺗﺮﺍﻛﻢ ﻣﻴﺎﻩ ﻓﻰ ﺍﻟﻤﺦ‬  Infection in the tissues surrounding the brain (meningitis). An infection in the tissues surrounding the brain. This potentially life-threatening infection may cause brain injury.  Tethered spinal cord ‫ ﺍﻳﻘﺎﻑ ﻧﻤﻮ ﺍﻟﺤﺒﻞ ﺍﻟﺸﻮﻛﻰ‬. Tethered spinal cord results when the spinal ner ves bind to the scar where the defect was closed surgically. The spinal cord is less able to grow as the child grows. This progressive tethering can cause loss of muscle function to the legs, bowel or bladder. Surge can limit the degree of disability.  Sleep-disordered breathing. ‫ﺧﻠﻞ ﻓﻰ ﺍﻟﺘﻨﻔﺲ ﺍﺛﻨﺎﺀ ﺍﻟﻨﻮﻡ‬ Children may have sleep apnea ‫ﺍﻧﻘﻄﺎﻉ ﻓﻰ ﺍﻟﺘﻨﻔﺲ‬or other sleep disorders. Assessment for a sleep disorder in those with myelomeningocele helps detect sleep-disordered breathing, such as sleep apnea, which warrants treatment to improve health and quality of life.  Skin problems. Children with spina bi da may get wounds on their feet, legs, buttocks or back.  Latex allergy. Children with spina bif ida have a higher risk of latex allergy, an allergic reaction to natural rubber or latex products. Latex allergy may cause rash, sneezing, itching, water yeyes and a runny nose. It can also cause anaphylaxis, a potentially life-threatening condition in which swelling of the face and airways can make breathing di cult.  Other complications. Such as  urina tract infections  gastrointestinal (GI) disorders  depression.  learning disorders  III: Cleft lip or palate  Cleft lip and cleft palate are openings or splits in the upper lip, the roof of the mouth (palate) or both. Cleft lip and cleft palate result when facial structures that are developing in an unborn baby don't close completely.  Cleft lip and cleft palate are among the most common bir th defects. They most commonly occur as isolated bir th defects but are also associated with many inherited genetic conditions or syndromes.  Cleft lip and cleft palate can be corrected. In most babies, a series of surgeries can restore normal function and achieve a more normal appearance with minimal scarring.  Males are more likely to have a cleft lip with or without cleft palate. Cleft palate without cleft lip is more common in females.  Types of cleft lip or palate 1. Cleft lip: (Unilateral, or bilateral cleft lip). In bilateral cleft lip, the upper lip is made up of two large par ts at each side and a small par tin the middle. A cleft happens if one or more of these three par ts fails to join together when the fetus is 7 to 9 weeks old. Sometimes a cleft lip can be just a small notch in the gum. 2. Cleft palate: Normally, the roof of the mouth forms when bones and soft tissues move from the sides of the mouth and join in the middle. If this fails to happen when the fetus is 10 to 12 weeks old, there will be a gap in the roof. This gap may be incomplete or par tial )in the hard palate only ‫ﻓﻰ ﺳﻘﻒ ﺍﻟﺤﻠﻖ ﺍﻻﻣﺎﻣﻰ ﻓﻘﻂ‬ )or complete (in soft palate and hard plate ‫( ﻓﻰ ﺳﻘﻒ ﺍﻟﺤﻖ ﻣﻦ ﺍﻻﻣﺎﻡ ﻭﺍﻟﺨﻠﻒ‬   There are ver yrare type known as hidden cleft palate : it occurs only in the muscles of the soft palate (submucous cleft palate), which are at the back of the mouth and covered by the mouth's lining. It has the following signs:  Di culty with feedings  Di culty swallowing, with potential for liquids or foods to come out the nose  Nasal speaking voice  Chronic ear infections 3. Cleft lip and cleft palate: When the upper lip, gum and roof of the mouth fail to join together when the fetus is 12 weeks old, there will be a cleft. This can be on one side only (unilateral complete and incomplete) or on both sides (bilateral, complete and icomplete ). The gap is between the mouth cavity and the nasal cavity.  The symptoms of cleft lip or palate  Signi icant problems with feeding since the baby will ind it hard to suck. ‫ﺻﻌﻮﺑﺔ ﺍﺛﻨﺎﺀ‬ ‫ﺍﻟﺮﺿﺎﻋﺔ‬  Problems with their speech and hearing  Ear infections  Dental decay and jaw development. ‫ﺗﺴﻮﺱ ﺍﻻﺳﻨﺎﻥ ﻭﺑﺮﻭﺯ ﺍﻟﻔﻚ ﻣﻊ ﺍﻟﻌﻤﺮ‬  Children and adults who were born with cleft palate may also have a nasal speaking voice. ‫ﺧﻨﻔﺎﻥ ﻛﺎﻥ ﺍﺻﻮﺕ ﺧﺎﺭﺝ ﻣﻦ ﺍﻷﻧﻒ‬  Or cleft palate /Risk factors for Cleft lip and 1. Family histo. Parents with a family histo of cleft lip or cleft palate face a higher risk of having a baby with a cleft. 2. Exposure to cer tain substances during pregnancy. Cleft lip and cleft palate may be more likely to occur in pregnant women who smoke cigarettes, drink alcohol or take cer tain medications like Phenytoin(antiepileptic), Diazepame (sedative) and Co icosteroids 3. Diabetic mothers. There is some evidence that women diagnosed with diabetes before pregnancy may have an increased risk of having a baby with a cleft lip with or without a cleft palate. 4. Obesity during pregnancy. There is some evidence that babies born to obese women may have increased risk of cleft lip and palate.   Treatment Surge to repair a cleft lip is normally done when the baby is between 3 and 6 months.  Surge to repair a cleft palate is done between 9 and 18 months.  Two or 3 di erent operations might be needed.  IV-Clubfoot Clubfoot is a congenital )present at bir th( condition in which the baby’s foot or feet turn inward where the tissues connecting the muscles to the bone )tendons ‫ ( ﺍﻷﻭﺗﺎﺭ‬are sho ter than usual.  It won’t go away on its own, but with early treatment (physical therapy or surge ), children experience good results.  Approximately 1 in ever y1,000 babies will be born with clubfoot, which makes it one of the more common congenital foot deformities.  Types of clubfoot 1. Isolated or idiopathic clubfoot: This is the most common type. If the child has clubfoot with no other medical issues, it’s called isolated clubfoot. Idiopathic means that the cause of clubfoot isn’t known. 2. Non-isolated clubfoot: Non-isolated clubfoot happens along with other health conditions. These conditions include ar throgr yposis )a joint problem ‫ﺍﻋﻮﺟﺎﺝ ﻓﻰ‬ ‫ ( ﺍﻟﻤﻔﺎﺻﻞ‬and spina bi ida )a neural tube disorder(.  Causes and risk factors for Clubfoot  Causes: The cause of clubfoot is unknown (idiopathic), but it may be a combination of genetics and environment.  Risk factors Boys are about twice as likely to develop clubfoot than girls are. Risk factors include: 1. Family histor y. If either of the parents or their other children have had clubfoot, the baby is more likely to have it as well. 2. Other Congenital conditions. In some cases, clubfoot can be associated with other abnormalities of the skeleton that are present at bi h (congenital), such as spina bi da. 3. Environment. Smoking and alcohol drinking during pregnancy can signif icantly increase the baby's risk of clubfoot. Also some drugs, for instance mothers who took cer ta in antidepressants like Ef fexor, Pristiq, Celexa, Lexapro, and Zoloft, have repor ted that they have had babies born with clubfoot. 4. Not enough amniotic uid during pregnancy (Oligohydramnios) Too little of the uid that surrounds the baby in the womb may increase the risk of clubfoot. 5. Zika infection during pregnancy, Zika is an illness get from a virus. It’s spread by Aedes mosquitoes that live in many par ts of the world. It can also spread through sexual intercourse. If a pregnant women is infected, they can pass the virus to the fetus. This can cause serious congenital conditions, including clubfoot , improper brain development and vision problems.  1. Symptoms and complications The top of the foot is usually twisted downward and inward, increasing the arch and turning the heel inward. ‫ﻛﻔﺔ ﺍﻟﺮﺟﻞ ﻣﻠﺘﻮﻳﺔ ﻟﺘﺤﺖ ﻭﻧﺎﺣﻴﺔ ﺍﻟﺪﺍﺧﻞ ﻭﻧﺘﻴﺠﺔ ﺫﻟﻚ ﺍﻟﻜﻌﺐ ﺑﻴﺘﻘﻮﺱ ﻧﺎﺣﻴﺔ ﺍﻟﺪﺍﺧﻞ‬ 2. The foot may be turned so severely that it actually looks as if it's upside down.‫ﻣﻨﺤﻨﻴﺔ ﻭﺍﺧﺪﻩ‬ ‫ﺷﻜﻞ ﻧﺼﻒ ﺩﺍﻳﺮﺓ‬ 3. The a ected leg or foot may be slightly sho er. 4. The calf muscles ‫ ﻋﻀﻼﺕ ﺑﻄﻦ ﺍﻟﺴﺎﻕ‬in the a fected leg are usually undeveloped. 5. Ankle sti ness. 6. Lack of full range of motion in their foot Untreated children with Clubfoot may have leads to the following symptoms 6. A hritis. The child is likely to develop a hritis at ten years old. 7. Poor self-image. The unusual appearance of the foot may make child's body image a concern at ten years old.  Treatment of clubfoot Clubfoot treatment includes several methods. These include: 1. Ponseti method: Stretches and casts on of child’s leg to correct the cu e.(Physical therapy and mild surge ) 2. French method: Stretches and splints ‫ﺭﺑﺎﻁ ﺍﻭ ﺟﺒﻴﺮﺓ‬on their leg to correct the cu ve.)physical therapy( 3. Bracing: Uses special shoes to keep their foot at the proper angle.(physical therapy) 4. Surge : May be an option if other methods don’t work.(using pins and casts)  Chromosomal Defects 1. Down Syndrome (47= 45 (Trisomy 21)+XY) or 47 =45 (trisomy 21)+XX 2. Edwards syndrome (47= 45 (Trisomy 18)+XY) or 47 =45 (trisomy 18)+XX 3. Patau syndrome 47= 45 (Trisomy 13)+XY) or 47 =45 (trisomy 13)+XX 4. Turner syndrome (45= 44+X0)  V. Down syndrome Def in ition: Down syndrome is a condition in which a person has an extra chromosome; chromosome No. 21.Down syndrome is also referred to as Trisomy 21  This extra copy changes how the baby’s body and brain develop, which can cause both mental and physical challenges for the baby.  Each year, about 6,000 babies born in the United States have Down syndrome. This means that Down syndrome occurs in about 1 in eve 700 babies. Common physical features of Down syndrome  A attened face, especially the bridge of the nose  Almond-shaped eyes that slant up ‫ﺍﻟﻌﻴﻦ ﺗﺸﺒﻪ ﺣﺒﺔ ﺍﻟﻠﻮﺯ ﻭﻣﺎﺋﻠﺔ ﻻﻋﻠﻰ‬  A sho neck  Small ears  A tongue that tends to stick out of the mouth ‫ﺗﺪﻟﻰ ﺍﻟﻠﺴﺎﻥ ﻟﻠﺨﺎﺭﺝ‬  Tiny white spots on the iris )colored pa t( of the eye ‫ﺑﻘﻌﺔ ﺑﻴﻀﺎﺀ ﻋﻠﯩﻰ ﺍﻟﻘﺰﺣﻴﺔ‬  Small hands and feet  A single line across the palm of the hand )palmar crease( ‫ﺧﻂ ﺗﺠﻌﺪ ﻭﺍﺣﺪ ﻓﻰ ﺭﺍﺣﺔ ﺍﻟﻴﺪ‬  Small pinky ngers that sometimes cu e toward the thumb  Poor muscle tone or loose joints ‫ﺿﻌﻒ ﻓﻰ ﺍﻟﻌﻀﻼﺕ ﻭﻣﻔﺎﺻﻞ ﻫﺸﻪ‬  Sho ter in height as children and adults ‫ﻗﺼﻴﺮ ﻭﻳﻈﻬﺮ ﻫﺬﺍ ﻣﻊ ﺍﻟﻨﻤﻮ‬  Types of 1. Trisomy 21: Down Syndrome About 95% of people with Down syndrome have Trisomy 21. With this type of Down syndrome, each cell in the body has 3 separate copies of chromosome 21 instead of the usual 2 copies. ‫ ﻧﺴﺦ ﻣﻦ ﺍﻟﻜﺮﻭﻣﻮﺳﻮﻡ ﺭﻗﻢ ﻭﺍﺡ ﻭﻋﺸﺮﻳﻦ‬3 ‫ﻛﻞ ﺧﻠﻴﺔ ﺗﺤﻤﻞ‬ 2. Translocation Down syndrome: This type accounts for a small percentage of people with Down syndrome )about 3%(. This occurs when an extra par tor a whole extra chromosome 21 is present, but it is attached or “trans-located” to a dif ferent chromosome rather than being a separate chromosome 21. ‫ ﺍﻭ ﺟﺰﺀ ﻣﻨﻪ ﻳﺘﺮﻙ ﻣﻜﺎﻧﻪ ﻭﻳﻠﺘﺼﻖ ﺑﻜﺮﻭﻣﻮﺳﻮﻡ ﺍﺧﺮ‬21 ‫ﺍﻟﻜﺮﻭﻣﻮﺳﻮﻡ ﺭﻗﻢ‬ 3. Mosaic Down syndrome: This type af fects about 2% of the people with Down syndrome. Mosaic means mixture or combination. For children with mosaic Down syndrome, some of their cells have 3 copies of chromosome 21, but other cells have the typical two copies of chromosome 21. Children with mosaic Down syndrome may have the same features as other children with Down syndrome. However, they may have fewer features of the condition due to the presence of some (or many) cells with a typical number of chromosomes.  Down syndrome Diagnosis There are two basic types of tests available to detect Down syndrome during pregnancy: screening tests and diagnostic tests. A screening test can tell a woman whether her pregnancy has a lower or higher chance of having Down syndrome. Screening tests do not provide an absolute diagnosis, but they are safer for the mother and the developing baby. Diagnostic tests can typically detect whether or not a baby will have Down syndrome, but they can be more risky for the mother and developing baby. 1. Screening Tests ‫ﺍﺧﺘﺒﺎﺭ ﺍﺳﺘﻜﺸﺎﻓﻰ ﻭﻟﻴﺲ ﺗﺸﺨﻴﺼﻰ‬  Blood test, which measures the amount of various substances in the mother’s blood (e.g., Maternal Serum Alpha-Fetoprotein (MS-AFP, normal range : 10 to 150 ng/mL)  Ultrasound, which creates a picture of the baby. During an ultrasound, one of the things the technician looks at is the f luid behind the baby’s neck. Extra f luid behind baby's neck region could indicate a genetic problem. These screening tests can help determine the baby’s risk of Down syndrome. 1. Diagnostic Tests (more conformational than screening) Diagnostic tests are usually per formed after a positive screening test. Types of diagnostic tests include:  Chorionic villus sampling (CVS)—examines material from the placenta ‫ﻓﺤﺺ ﺍﻟﺨﻤﻼﺕ ﺍﻟﻤﺸﻴﻤﻴﺔ‬  Amniocentesis—examines the amniotic luid )the luid from the sac surrounding the baby( ‫ﻓﺤﺺ ﺍﻟﺴﺎﺋﻞ ﺍﻻﻣﻨﻴﻮﺗﻰ‬  Percutaneous umbilical blood sampling )PUBS(—examines blood from the umbilical cord ‫ﻓﺤﺺ ﻋﻴﻨﺔ ﺩﻡ ﻣﻦ ﺍﻟﺤﺒﻞ ﺍﻟﺴﺮﻯ‬  Other Health Problems associated with Down syndrome Many people with Down syndrome have the common facial features and no other major bir th defects. However, some people with Down syndrome might have one or more major bir th defects or other medical problems. Some of the more common health problems among children with Down syndrome are listed below.  Hearing loss  Obstructive sleep apnea, which is a condition where the person’s breathing temporarily stops while asleep  Ear infections  Eye diseases  Hea defects present at bi h Symptoms of Trisomy 18 Symptoms and complications of Trisomy 13 Symptoms and complications of Turner syndrome Lymphedema  Congenital Anomalies of Urina System  Congenital Kidney Anomalies Babies typically are born with two kidneys. The kidneys f ilter waste in the blood, create essential hormones the body needs to regulate blood pressure and help produce red blood cells. Here are some of the most common kidney abnormalities in children:  Horseshoe kidney: The kidneys may be fused together, forming a single arched kidney  Polycystic or multicystic kidney disease: One or both kidneys have f luid - lled cysts  Renal agenesis: Baby is born with one kidney, or baby is born without kidneys  Renal hypoplasia: Baby is born with one or two abnormally small kidneys  Renal dysplasia: One or both kidneys have not formed as they should  The kidneys may be in the wrong position (ex.Pelvic kidney or descended kidney)  Kidney tumors   Congenital Anomalies of the Ureters  Duplicated ureter: One kidney drains to the bladder with two ureters instead of one. This condition is called duplex kidney, or duplicated collecting system.  Ureteropelvic junction obstruction: A blockage in the area where the kidney attaches to the ureter.  Ureterovesical junction obstruction or ureterocele: A blockage in the area where the ureter attaches to the bladder.  Vesicoureteral re ux: The ureters attach to the bladder in a way that allows urine to ow back to the kidney.  Signs of Congenital Anomalies of the Kidneys and Urina Tract  Frequent urina tract infections  Lack of energy; persistent tiredness  Loss of appetite  Nausea  Poor growth  Swelling in the hands, feet or face near the eyes  Swollen belly  Unexplained fever  Vomiting  Treatment Congenital kidney and ureter Diseases The pediatric nephrologists with No on Children’s Nephrology can work with child to create a unique treatment plan. Depending on child’s type of anomaly, treatment may include:  Antibiotics to prevent urina tract infections.  Obse ation: Children can outgrow some issues with urine ow. Children also can live healthy lives with one kidney missing or damaged.  Surge to address vesicoureteral re ux or urethra or ureters blockages. When these kinds of congenital anomalies are not detected early or treatment is unable to prevent kidney damage, a child may experience chronic kidney disease or kidney failure that requires dialysis and kidney transplantation  Congenital Brain Defects  The brain begins to form in the f irst month after conception, and will continue to form and develop throughout pregnancy.  Development of the brain begins from a small, special plate of cells on the sur face of the emb o. These cells grow and form the di erent regions of the brain.  When this process is disturbed or interrupted, it can cause structural defects in the brain and skull.  General Symptoms of congenital brain defects  Symptoms may not be apparent until after bir th when the child exhibits developmental or growth delays.  Some congenital brain defects don’t have symptoms until adulthood. Some never have symptoms at all.  The most famous symptoms include:  Cardiovascular disorders  Gastrointestinal defects  Cleft lip and palate  Seizures ‫ﻧﻮﺑﺎﺕ ﺗﺸﻨﺞ‬  Head pain  Muscle weakness  Reduced vision  Bladder and bowel problems   The types of congenital brain defects  Anencephaly: The head end of the neural tube fails to close, and a major por tion of the skull and brain is missing. The missing por tion of the skull means that brain tissue is exposed.  Encephalocele: A por tion of the brain bulges through an opening in the skull. The bulge is often located along the front-to-back midline at the back of the skull.  is shifted downward into the upper spinal column. This causes the brain or spinal cord to become compressed.(a region of the brain that affects motor control) Arnold-Chiari or Chiari II: Part of the cerebellum  Hydrocephalus: Also called f luid on the brain, this is an excessive buildup of cerebrospinal f luid (CSF) caused by impaired circulation of the CSF. When there is excess uid, it can put too much pressure on the brain.  Dandy-Walker syndrome: This involves the absence or defective growth of the central section of the cerebellum. ‫ﻓﻘﺪ ﺍﻭ ﺧﻠﻞ ﻓﻰ ﻣﺮﻛﺰ ﺍﻟﻤﺨﻴﺦ‬  Holoprosencephaly: The brain doesn’t divide into two halves, or hemispheres. ‫ﺍﻟﻤﺦ‬ ‫ﻏﻴﺮ ﻣﻘﺴﻢ ﻟﻨﺼﻔﻰ ﺍﻟﻜﺮﺓ ﺍﻟﻤﺤﻴﺔ‬  Megalencephaly: This condition causes a person’s brain to be abnormally large or heavy. ‫ﺗﻀﺨﻢ ﺍﻧﺴﺠﺔ ﺍﻟﻤﺦ ﻋﻦ ﺍﻟﻄﺒﻴﻌﻰ‬  Microcephaly: This occurs when the brain doesn’t develop to full size. The Zika virus can cause microcephaly. ‫ﺻﻐﺮ ﺣﺠﻢ ﺍﻟﻤﺦ‬ 1. It :occurs  Anencephaly when the fetal brain and skull don’t develop in the uterus as expected. Babies born with the condition die within a few hours or days. Most pregnancies end in miscarriage ‫ﺑﻴﻤﻮﺕ ﺑﻌﺪ ﺍﻟﻮﻻﺩﺓ ﺍﻭ ﺩﺍﺧﻞ ﺍﻟﺮﺣﻢ‬  Types of anencephaly There are three types of anencephaly and all three are fatal for the fetus: A. Meroanencephaly: The brainstem and midbrain only par tially develop. Some skin and skull cover the brain. ‫ﻧﻤﻮ ﺑﺴﻴﻂ ﻟﺠﺰﻉ ﺍﻟﻤﺦ ﻭﺍﻟﻤﺦ ﺍﻟﻮﺳﻄﻰ ﻭﻟﻴﺲ ﺿﻤﻮﺭ ﺗﺎﻡ ﻣﻊ ﻭﺟﻮﺩ ﻏﻄﺎﺀ ﺟﻤﺠﻤﺔ ﻭﺟﻠﺪ‬ ‫ﻏﻄﺎﺋﻰ‬ B. Holoanencephaly: The brain didn’t develop at all. This is the most common type. ‫ﻋﺪﻡ ﻧﻤﻮ‬ ‫ ﺿﻤﻮﺭ ﺗﺎﻡ‬- ‫ﺍﻟﻤﺦ ﺗﻤﺎﻣﺎ‬ C. Craniorachischisis: The brain, skull and spine didn’t develop. This is the most severe type. ‫ﺍﻟﻤﺦ ﻭﺍﻟﺠﻤﺠﻤﺔ ﻭﺍﻟﻔﻘﺮﺍﺕ ﺿﺎﻣﺮﺓ ﺗﻤﺎﻣﺎ‬   Signs of anencephaly High levels of alpha-fetoprotein (a fetal protein) from a blood test or sample of amniotic f luid of the pregnant parent. This blood test is usually done in the second trimester of pregnancy.  Too much f luid in the amniotic sac (polyhydramnios) may be seen during a prenatal ultrasound.  Missing pa s of the skull and brain.  Exposed areas of brain tissue )no skin or skull covering it(. ‫ﻭﺟﻮﺩ ﻣﻨﺎﻃﻖ ﻣﺦ ﻋﺎﺭﻳﺔ ﻭﻟﻴﺴﺖ ﻣﻐﻄﺎﻩ‬ ‫ﺑﻌﻈﻢ ﺍﻟﺠﻤﺠﻤﺔ‬  Smaller head size than expected.  The risk factors for anencephaly A. Lack of folic acid: Women Not getting enough folic acid (vitamin B9) during pregnancy leads to a higher risk of having a baby with anencephaly. A healthcare provider may recommend to take a prenatal vitamin with 400 micrograms (mcg) of folic acid before and during pregnancy. B. Diabetes: Elevated blood glucose levels can be dangerous for a developing fetus. C. Medications: Antiseizure medications such as phenytoin (Dilantin®), carbamazepine (Tegretol®) and valproic acid (Depakote®) can increase the risk of neural tube defects (NTD). D. Opioid use: ‫ﺗﻨﺎﻭﻝ ﺍﻟﻤﺴﻜﻨﺎﺕ ﺑﺎﺳﺘﻤﺮﺍﺭ‬Taking opioids during the f irst two months of pregnancy can cause NTDs. Opioids may include heroin and prescription painkillers, such as hydrocodone.  2. Encephalocele  Normally, the brain and spinal cord form during the third and four th weeks of pregnancy. They are formed from the development of neural tube.  Most encephaloceles happen when the neural tube does not fully close. When the neural tube does not close, it can cause a sac-like bulge with brain tissue and spinal f luid that pokes through the skull. ‫ ﻳﻤﻜﻦ ﺃﻥ ﻳﺴﺒﺐ ﺍﻧﺘﻔﺎﺧًﺎ ﻳﺸﺒﻪ ﺍﻟﻜﻴﺲ ﻳﺤﺘﻮﻱ ﻋﻠﻰ‬،‫ﻋﻨﺪﻣﺎ ﻻ ﻳﻨﻐﻠﻖ ﺍﻷﻧﺒﻮﺏ ﺍﻟﻌﺼﺒﻲ‬ ‫ﺃﻧﺴﺠﺔ ﺍﻟﻤﺦ ﻭﺍﻟﺴﺎﺋﻞ ﺍﻟﺸﻮﻛﻲ ﺍﻟﺬﻱ ﻳﺨﺘﺮﻕ ﺍﻟﺠﻤﺠﻤﺔ‬  The Signs and Symptoms of Encephalocele  Sometimes, encephalocele is not obse ed until the baby is born, when defects can be seen more easily. Once in a while, the condition is only discovered later in childhood, once a child sta s to have physical or mental delays.  Signs of encephalocele can include:  too much uid in the brain (called hydrocephalus)  loss of strength in the arms and legs  a small head  awkward movement of muscles, such as those used in walking  delay in growth and development  problems in vision  problems with breathing, hea rate, and swallowing  seizures  Types of encephalocele The types of encephalocele identify the location of the opening in the skull: 1. Frontal: At the front of Forehead ‫ﺟﺒﻬﻰ‬ 2. Naso-frontal: at nasal-fontal area ‫ﺍﻧﻔﻰ‬-‫ﺟﺒﻬﻰ‬ 3. Nasal :over the nose ‫ﺍﻧﻔﻰ‬ 4. Occipital: The lower back of baby’s head. ‫ﻗﻔﻮﻯ‬ 5. Parietal: Top, nearest the back of baby’s head. ‫ﻗﺮﻳﺐ ﻣﻦ ﺍﻟﻘﻔﻮﻯ‬ 6. Orbital: over the eye ‫ﺣﺠﺎﺟﻰ‬  Symptoms of encephalocele  Headache.  Visual problems.  Muscle weakness in arms and legs.  A smaller-than-expected head size at bi h.  Uncoordinated movements (ataxia).  Facial malformations.  Nasal obstruction.  Spinal uid leaking from nose or ear. Facial malformations.   Nasal obstruction.  Spinal uid leaking from nose or ear. 3. Arnold-Chiari  or Chiari II Def inition: Par tof the cerebellum )region of the brain that af fects motor control( is shifted downward into the upper spinal column. This causes the brain or spinal cord to become compressed. Has a higher rate of death. ‫ﺳﻘﻮﻁ ﺟﺰﺀ ﻣﻦ‬ ‫ﺍﻟﻤﺨﻴﺦ ﻻﺳﻒ ﻓﻰ ﻣﻨﻄﻘﺔ ﺍﻟﺤﺒﻞ ﺍﻟﺸﻮﻛﻰ‬  of Arnold-Chiari orChiari II Symptoms  Neck pain.  Unsteady walk and trouble with balance. ‫ﺍﻟﻤﺸﻰ ﻏﻴﺮ ﻣﻨﺘﻈﻢ ﻭﻋﺪﻡ ﺍﻟﺘﻮﺍﺯﻥ‬  Poor hand coordination.  Numbness and tingling of the hands and feet. ‫ﺧﺪﻻﻥ ﻭﻭﺧﺰ‬  Dizziness. ‫ﺩﻭﺧﺔ‬  Trouble swallowing. This sometimes happens with gagging, choking and vomiting. ‫ﺍﺧﺘﻨﺎﻕ ﺍﺛﻨﺎﺀ ﺍﻟﺒﻠﻊ‬  Speech changes, such as hoarseness. ‫ﺑﺤﺔ ﻓﻰ ﺍﻟﺼﻮﺕ‬  Ringing or buzzing in the ears, known as tinnitus. ‫ﻃﻨﻴﻦ ﻓﻰ ﺍﻻﺫﻥ‬  Weakness.  Slow hea rhythm.  Cur va ture of the spine, known as scoliosis. The cur va ture is related to spinal cord impairment.  Trouble with breathing. This includes central sleep apnea, which is when a person stops breathing during sleep.  Complications of Arnold-Chiari orChiari II  Hydrocephalus. Hydrocephalus occurs when too much luid builds up in the brain. This can cause trouble with thinking. ‫ﺗﺮﺍﻛﻢ ﺳﺎﺋﻞ ﻋﻠﻰ ﺍﻟﻤﺦ‬ 1. Spina bif ida. Spina bif ida is a condition in which the spinal cord or its covering isn't fully developed. Par tof the spinal cord is exposed, which can cause serious conditions such as paralysis. People with Chiari malformation type 2 usually have a form of spina bi da called myelomeningocele. 2. Syringomyelia. Some people with Chiari malformation also develop a condition called syringomyelia. In people with this condition, a cavity or cyst called a syrinx forms within the spinal column. As the syrinx grows, it can press on the ne ves and cause pain, weakness and sti fness. ‫ﺗﻜﻮﻥ ﻛﻴﺲ ﻣﺎﺋﻰ ﻓﻰ‬ ‫ﺍﻟﺤﺒﻞ ﺍﻟﺸﻮﻛﻰ‬ 3. Tethered cord syndrome. In this condition, the spinal cord attaches to the spine and causes the spinal cord to stretch. This can cause serious ne ve and muscle damage in the lower body. ‫ﺍﻟﺘﺼﺎﻕ ﺍﻟﺤﺒﻞ ﺍﻟﺸﻮﻛﻰ ﺑﺎﻟﻔﻘﺮﺓ‬ 4.DefPorencephaly  inition: Porencephaly is an extremely rare disorder of the central ner vous system that causes a cyst or cavity f illed with cerebrospinal uid to develop in the brain.  It is usually the result of damage from stroke or infection after bir th (more common), but it can also be caused by delayed development before bi h (which is inherited and less common). Diagnosis is usually made before an infant reaches their rst bi hday.  Symptoms include:  Delayed growth and development  Spastic hemiplegia )slight or incomplete paralysis( ‫ﺷﻠﻞ ﺟﺰﺋﻰ‬  Hypotonia )low muscle tone( ‫ﺿﻌﻒ ﺍﻭ ﻭﻫﻦ ﻓﻰ ﺍﻟﻌﻀﻼﺕ‬  Seizures (often infantile spasms)  Macrocephaly (large head) or microcephaly (small head)  Delayed or absent speech development ‫ﺿﻌﻒ ﺍﻭ ﻏﻴﺎﺏ ﺍﻟﻨﻄﻖ‬  Epilepsy  Hydrocephalus (accumulation of uid in the brain)  Spastic contractures (shrinkage or sho ening of the muscles)  Cognitive di iculties ‫ﺿﻌﻒ ﻓﻰ ﺍﻟﺘﻌﻠﻢ ﻧﺘﻴﺠﺔ ﺍﻟﺘﺎﺧﺮ ﺍﻟﺬﻫﻨﻰ‬