Birth&Defects&is:& · Classificaons&of&Birth&Defects&! Recessiveinheritance! Dominantinheritance! Multi9factorialinheritance! ChromosomalError,! CongenitalMalformation

Birth  Defects  is:  � Abnormality  that  affects  the  structure  or  function  of  the  body  

Classifica1ons  of  Birth  Defects  � Recessive  inheritance  � Dominant  inheritance  � Multi-­‐factorial  inheritance  � Chromosomal  Error  � Congenital  Malformation  � Blood  Disorder  � Prenatal  Damage  � Metabolic  disorder  � X-­‐linked  (sex-­‐linked)    

Causes  of  Birth  Defects  CAUSES  

Heredity  20%  Environment  20%  Combination  60%  

Factors  that  contribute  to    Birth  Defects:      

�  Mother  is  Overweight  �  Mother  is  Underweight  �  Last  birth  was  less  than                                                                                        

12  month  ago  �  Has  had  a  baby  that  weighed  less  than  3  ½  

pounds  �  Has  had  3  or  more  miscarriages  �  Has  had  more  than  5  pregnancies  

More  Factors    � Has  had  a  still  born  baby  � Drinks  alcohol  � Uses  prescription  drugs  � Has  used  street  drugs  � Drinks  high  amounts  of  caffeine  � Has  had  exposure  to  chemicals  � Constant  exposure  to  cats  � Has  had  x-­‐rays  during  pregnancy  �  If  mother  is  over  the  age  of  35  

Most  sensi1ve  1me  during  pregnancy  for  birth  defects  to  occur?  �  FIRST  6  WEEKS–  because  that  is  when  the  basic  fetal  framework  is  built  and  mother  rarely  knows  she  is  pregnant.  

   Can  birth  defects  be  diagnosed  before  birth?    

�  Some  prenatal  tests  that  can  be  taken  are:  

� Ultrasound  � Amniocentesis    � Chronic  villus  sampling  

PRENATAL TESTS

� ULTRASOUND �  Sound waves are

used to make a video image of fetus

AMNIOCENTESIS

�  Amniotic fluid is withdrawn do that DNA in amniotic fluid can be tested

CHORIONIC VILLUS SAMPLING

•  Samples of tissues surrounding fetus are tested

What  can  be  done  to  help  prevent  birth  defects?  � Early  and  regular  prenatal  care  � Vaccines  � RH  vaccine  during  and  after  pregnancy  � Take  Folic  Acid  and  Prenatal  Vitamins    � Avoid  dangerous  environmental  factors    

� Drugs  �  Alcohol  �  Chemicals  �  Etc.    

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

KING  PARABLE  

TERMS  �  Syndrome:    several  signs  and  symptoms  appear  together  

� Congenital  malformation:    problem  is  passed  the  genes  and  is  evident  at  birth  

� Multifactorial  defect:    problem  may  be  caused  by  variety  of  factors  

� Chromosomal  error:    chromosome  is  shaped  wrong  or  there  are  too  many  or  too  few  

� Each  person  should  have  46  chromosomes  (23  pairs)  

Cleft Lip/Cleft Palate � Can affect anyone � Appears at birth � Congenital

malformation – Multi-factorial

� Two sides of lip and/or pallet not joined

� Treatment - surgery

Clubfoot � Affects anyone � Appears at birth � Congenital

malformation – Multi-factorial

� Foot and ankle twisted, making it impossible to walk normally

� Treatment - surgery

Color Blindness

�  Males – uncommon in females.

�  Present at birth but often not detected until long after birth

Color  Blindness  

Color Blindness �  Sex linked defect. Female is

carrier but defect appears in male.

�  Red/green or blue/yellow deficiency. Have to cope with not being able to see those colors e.g. traffic lights

�  No treatment – lens in one eye

Cystic Fibrosis �  It's more common among

those of Northern or Central European descent.

�  Present at birth but usually diagnosed by age 2

�  Caused by recessive gene

�  Disease that causes thick, sticky mucus to build up in the lungs, digestive tract, and other areas of the body

�  Antibiotics, inhalers, special exercises, special diet

�  Life expectancy – 45 years

Down’s Syndrome �  Common if baby has

young or old parents �  Appears at birth �  Chromosomal error �  Effects – Some form of

mental retardation, oval shaped eyes, thick big tongue, short neck, back of head is flat, small ears, common heart problems

�  Surgery, special assistance

Fetal Alcohol Syndrome n Affected  if  mom  drank  alcohol  while  pregnant  

n Appears  at  birth  n Prenatal  n Some  form  of  mental  retardation,  facial  abnormalities,  deformed  limbs  

n Special  assistance  

Muscular Dystrophy �  Affects – anyone �  Appears in childhood

and adulthood �  Multi-factorial, sex –

linked �  Weakening of muscles.

Inability to walk, move, wasting away and sometimes death

�  No treatment

PKU - Phenylketonuria � Affects anyone � Appears at birth � Recessive disorder � Abnormal digestion

of protein, mental retardation, hyperactivity

� Preventable diet

�  .

Children inherit PKU from two parents who carry the recessive gene. Children effected Those with PKU are missing a enzyme called phenylalanine that breaks down the essential amino acid phenylalanine. PKU increases the amount of phenylalanine in the blood. This is harmful to the central nervous system

�  1 out of 10,000 to 15,000 babies are affected in the U.S

�  PKU can be prevented. Woman planning to get pregnant should be tested to see if they carry the PKU gene.

�  Mothers with PKU should follow a strict diet.

Polydactyly �  A condition in which a

person has more than five fingers per hand or five toes per foot.

�  You can see the extra digit before the child is born by using an ultrasound otherwise it manifests itself at birth

� 

Polydactyly �  Polydactyly is

inherited…. BUT….African Americans, are more likely to inherit Polydactyly.

�  The extra digit often

has no bone and is usually surgically removed.

Sickle Cell Anemia �  Affects primarily blacks �  Appears at birth �  Recessive disorder,

blood disorder �  Abnormal blood cells,

bout of pain, heart and kidney failure, less oxygen to all parts of the body. Death in childhood. Damage to adult vital organs.

�  Blood transfusions

Spina Bifida �  Affects anyone �  Appears at birth �  Multi-factorial, Prenatal damage �  Varying degrees from slight cyst

to open spine (sores, infertile, legs paralyzed, poor bladder and bowel control, death)

�  Surgery and physical therapy

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

Bibliography �  http://gtresearchnews.gatech.edu/newsrelease/

pku.htm �  http--www_sequoyahcountysheriff_org-what

%20meth%20does%20to%20you_jpgMeth �  http://www.ich.ucl.ac.uk/gosh/clinicalservices/

Cleft_lip_and_palate/InformationforFamilies/ �  pediatrics.about. www.state.nj.us/.../familyguide/

questions.shtml com/.../bl_club_foot.htm �  www.csulb.edu/~kmacd/361-6-Ch2.htm �  www.healthyjunkie.com/articlelist.asp?vt=SubC... �  www.marquettetribune.org/home/index.cfm?event... �  www.thecamreport.com/?cat=59 �  www.state.nj.us/.../familyguide/questions.shtml