Prenatal Development and Birth:Prevention of Congenital Defects

Tabatha LovittDecember 2, 2012

Southwestern College Professional Studies

How Can Congenital Defects Be Prevented?

Congenital Abnormalities

• Congenital: present at birth• Abnormalities: something differing from

normal“Congenital abnormalities are thus those

features of differences that are present when a child is born, even if they’re not immediately noticed.” (Ellis-Christensin, T., 2012)

Categories of Abnormalities, According to Cause

• Chromosome• Single-gene• Conditions during pregnancy• Combination of Genetic and Environment• Unknown Causes

Chromosome Abnormalities

•A child is born with an abnormal 46 chromosome count

-Down Syndrome-Turner’s Syndrome-Trisomy 18-Trisomy 13

Single-Gene Abnormalities Abnormal genes on the chromosome

• Autosomal Dominant Inheritance: abnormalities passed to child if one parent carries the same gene.

• Autosomal Recessive Inheritance: both parents carry the same defective gene.

-Cystic fibrosis, sickle cell anemia• Sex-Linked: dominant in boys

-hemophilia, muscular dystrophy

Conditions During Pregnancy

• Illness- Preterm labor- Brain damage

• Alcohol consumption - Fetal Alcohol Syndrome

• Medication/Drug consumption - Hinder fetal growth - Malformations

• Pollution (second hand smoke)- Low birth weight- Developmental disabilities- Infant mortality

Combination of Genetic and Environment

Occur with genetic influence and exposure to environmental factors during certain times of pregnancy

- Spina bifida, cleft lip/palate

http://www.cdc.gov/ncbddd/birthdefects/cleftlip.html

Unknown Causes - Applies to most births involving abnormalities

Doctors know how abnormalities occur, but do not know what triggers that how

Prenatal Diagnosis

• Screening tests- Amniocentesis- Ultrasound- Blood tests- Urine samples

Treatment

• Surgery- Cleft lip/palate-Heart defects

• Therapy-Developmental delays-Physical disabilities

• Not all abnormalities are curable or can be prevented-Down syndrome-Fetal alcohol syndrome

Prevention

• Genetic Counseling• Nutrition • Exercise• Prenatal Care• Education• Not all defects are preventable

PreventionGenetic Counseling

• Family history of genetic conditions• Diseases more common in certain ethnic

groups• Abnormal tests results during pregnancy• Chances for certain types of genetic

conditions• A genetic condition occurred in a previous

pregnancy

PreventionNutrition

• Health before conception- Reproductive life plan

• Vitamins- Folic acid- Prenatal vitamins

• Balanced meals

PreventionExercise

• Uphold a healthy weight- Continue or start regular exercise(confer with a doctor about a fitness plan)

PreventionPrenatal Care

• See your doctor, discuss:- Medical conditions- Lifestyle and behaviors

smokedrink alcoholabusive

environment- Medications- Vaccinations

PreventionEducation

• Speak with your doctor• Child birth education class• Lamaze class• Breast feeding classes• Infant care programs• CPR course• Create a “birth plan”

Questions?

Thank You

ReferencesEllis-Christensin, T. (2012, 11 29). What are the different types of

congenital abnormalities. Retrieved from http://www.wisegeek.com/what-are-the-different-types-of-congenital-abnormalities.htm

American Academy of Pediatrics. (2012). Healthy children.org: Powered by pediatricians. trusted by parents. Retrieved from http://www.healthychildren.org/English/health-issues/conditions/developmental-disabilities/Pages/Congenital-Abnormalities.aspx

Encyclopedia Britannica. (2012). Chromosomal disorders. Retrieved from http://www.britannica.com/EBchecked/topic/116049/chromosomal-disorder

EPA. (2010, 12). Making an impact fact by fact. promoting good prenatal health: air pollution and pregnancy. Retrieved from http://yosemite.epa.gov/ochp/ochpweb.nsf/content/OCHP_Prenatal FS_7_10.htm/$File/OCHP_Prenatal_FS_7_10.pdf

References

Baby Center. (1997-2012). Prenatal tests. Retrieved from http://www.babycenter.com/prenatal-tests

Berger, K. (2011). The developing person through the life span. (8th ed.). New York, NY: Worth Publishing. DOI: www.worthpublishers.com

Centers for Disease Control and Prevention. (2012, 07 19). Facts about cleft lip and cleft palate. Retrieved from http://www.cdc.gov/ncbddd/birthdefects/cleftlip.html

Centers for Disease Control and Prevention. (2011, 01 20). Genetic counseling. Retrieved from http://www.cdc.gov/ncbddd/pediatricgenetics/genetic_couns eling.html