Prenatal Developmental Concerns

1
Prenatal Developmental Concerns
2
Birth Defects

• Incidence
• High Risk Pregnancies
• Teratogens
• Epigenetic Period

3
Other Concerns

• Poverty
• Child Abuse (ex. Kenneth)
• Substance Abuse
• Fetal Alcohol Syndrome

4
Fetal Alcohol Syndrome

• Leading cause of birth defects in the U.S.
• Oldest known cause of developmental disabilities
• Bible (Judges 133-4) Behold now, thou art
  barren and barest not but thou shalt conceive
  and bear son. Now therefore beware, I pray thee,
  and drink not wine nor strong drink
• Estimated Alcohol use among women ages 18-44
• 50 / 11 Binge (4 or more drinks on any
  occasion)
• Why, if most people understand the alcohol is
  harmful to a embryo or fetus, is FAS so prevalent?

5
Pre-embryonic period (Weeks 1 2)
6
Pre-embryonic period (Weeks 1 2)
7
Embryonic Period

• Week
• 4 - CNS
• 5 - Heart
• 8 - Internal Organs
• Embryo to Fetus

8
Fetal Period

• 2nd - 6th Month
• 24 weeks vs. 28 weeks
• 6th - 9th Month
• Birth

9
Health Habits During Pregnancy

• Drugs, Alcohol, Tobacco
• Nutrition
• Mother directly influences the nutritional status
  of her baby
• Eating for two
• Exercise
• Moderate physical activity is recommended

10
Exercise and Pregnancy

• Clapp (Western Reserve University) 1998
• Sustained exercise
• 3x / week / 20 minutes / session
• Findings
• No effect on conception
• No effect on increase in spontaneous abortion
• No increased incidence of anomalies
• 80 gave birth on or before their due dates
  compared to 50 percent of control group (no prem)
• 70 who delivered vaginally completed 3rd stage
  labor in less than 4 hours compared to 30
  control
• 1/3 fewer cesareans
• Conclusion Exercise is good, but check with
  Doctor first (consider lifestyle, exercise
  history, and overall health)

11
Prenatal Diagnostic Procedures

• Ultrasound
• Amniocentesis
• Chorionic Villus Sampling (CVS)
• Alpha-fetoprotein
• Glucose Tolerance Test

12
What can go wrong

• Heredity
• Malnutrition
• Drugs
• Maternal Infections / Diseases
• Trauma

13
Heredity

• Cells
• 46 Chromosomes
• Thousands of genes
• Parents
• Genes and Chromosomes
• Anomalies

DNA Deoxyribonucleic acid
14
Genes

• Gregor Mendel
• Three ways to manifest genetic abnormalities
• Autosomal Recessive Disorders (HH, hH)
• Autosomal Dominant Disorders (aa, Aa)
• X - Linked Disorders (XX, XdX)

15
Genetic Anomaly Questions

• What is the chance to have a child who will
  develop PKU (autosomal recessive disorder) if mom
  is a carrier and dad does not have the disorder
  nor is a carrier?
• What is the chance to have a male child who is
  color blind (x-linked disorder) if the mother is
  colorblind and the dad is not? What is the
  chance to have a daughter who is colorblind?
• What is the chance to have a child who will
  develop myotonic muscular dystrophy (autosomal
  dominant disorder) if mom does not have it and
  dad does?
• In order for a female to get an X-linked disorder
  what must occur?
• What is the chance to have a male child who is
  color blind if dad is color blind and mom is not
  a carrier? What are the chances that a female
  will be a carrier?

16
Genetic Birth Defects(Autosomal Recessive)

• Club foot (most common)
• Sickle Cell Anemia
• Tay-Sachs
• PKU
• Spina Bifida
• Cystic Fibrosis

17

• What are the percent chances to have a child with
  spina bifida if mom has it and dad is a carrier?
• What percent chance do you have of having a child
  with Angelmans Syndrome if mom has it and dad
  does not?

18
Chromosomal Anomalies

• Usually lead to intellectual disability
• Most common Trisomy 21 Down Syndrome

19
Chromosomal Anomalies

• Trisomy 13 / 18
• Angelman Syndrome
• Prader-Willi Syndrome
• Williams Syndrome

20
Etiology of Disability

• Idiopathic
• Known
• Ex. Autism

21
Autism Etiology
22
Autism Etiology

• Prenatal Ultrasound FDA warns against use of
  medically non-indicated or commercial devices
• Chemical Exposures (Issac Pessah, Ph.D.)
• Major chemicals in environment have increased
  exponentially
• Paternal Age 40 yrs or older 5.75x more likely
  than under 30yrs after controlling for birth,
  SES, and maternal age
• Folic Acid and gene expression (Arthur Beaudet,
  MD.)
• ICSI increase in BWS and AS
• Terbutaline premature delivery