BIRTH DEFECTS AND

PRENATAL DIAGNOSIS

Lecture I

By: jkkweri
 What are birth defects ?
Defn: are structural, behavioral, functional, and
metabolic disorders present at birth. Are also
known as congenital malformation/
congenital anomaly
• Teratology is the science that studies these
disorders and how they occur
• teratogens : are agents or factors that cause
birth defects)
• Birth defects are the leading cause of infant
mortality, accounting for approximately 21% of
infant deaths
• Major structural anomalies occur in 2 to 3% of
liveborn infants, and an additional 2 to 3% are
recognized in children by age 5 years, for a total of
4 to 6%.

• They are the fifth leading cause of years of potential

life lost prior to age 65 and a major contributor to
disabilities
 Causes of birth defects
• Genetic factors- such as chromosome abnormalities
and mutant genes and account for approximately
15%;
• Environmental factors:- produce approximately
10%
• Environmental and genetic factors:- multifactorial
inheritance) produces 20 to 25%;

• NB> In 40 to 60% of persons with birth defects, the

cause is unknown
 Minor congenital anomalies
• Defn: these are birth defects/anomalies with no
clinical significance and occurs in approximately
15% of newborns

• They are not themselves detrimental to health

• but, in some cases, are associated with major
defects. For example, infants with one minor
anomaly have a 3% chance of having a major
malformation; those with two minor anomalies have
a 10% chance; and those with three or more minor
anomalies have a 20% chance.
 TYPES OF ABNORMALITIES
• Malformations:- that occur during organogenesis and
they are either genetical/enviromental/or both (i.e. third
to eighth weeks of gestation)
• Disruptions:- result in morphological alterations of already
formed structures and are due to destructive processes
• Deformations are due to mechanical forces that mold a
part of the fetus over a prolonged period
• A syndrome is a group of anomalies occurring together
that have a specific common cause
• association is the nonrandom appearance of two or more
anomalies that occur together more frequently than by
chance alone
 Principles of Teratology
• These are Factors determining the capacity of an
agent to produce birth defects
1. the genotype of the conceptus .
2. The stage of embryonic development at the time
of exposure. (third to eighth weeks ).
3. Amount of exposure (doses)
4. Time of exposure to the teragenic agent
5. Frequency of exposure to the teratogenic agent
6. Route of administration
7. Mechanisms of the teretogens
NB> Manifestations of abnormal development are
death, malformation, growth retardation, and
functional disorders
 Classification of teratogens
• Teretogens can be classified in the following
catagories :-
1. infectious agents: bacteria, viruses, fungi,
2. physical agents: heat, electricity, fire
3. hormones/ or hormonal imbalances
4. chemical agents; alcohol and drugs
5. maternal diseases like diabetes
Infections agents
 Physical agents
• X-rays :- Microcephaly, spina bifida, cleft
palate, limb defects
• Hyperthermia:- Anencephaly, spina bifida,
mental retardation, facial defects
 Chemical agents
• Thalidomide: Limb defects, heart malformations
• Aminopterin: Anencephaly, hydrocephaly, cleft lip and
palate
• Valproic acid:- Neural tube defects, heart, craniofacial, and
limb anomalies
• Trimethadione:- Cleft palate, heart defects, urogenital and
skeletal abnormalities
• Lithium:- Heart malformations
• Amphetamines:- Cleft lip and palate, heart defects
• Warfarin Chondrodysplasia, microcephaly
• Alcohol:- Fetal alcohol syndrome, short palpebral fissures,
maxillary hypoplasia, heart defects, mental retardation
• Prenatal Diagnosis
The perinatologist has several approaches for
assessing growth and development of the fetus in
utero including:-
1. ultrasound,
2. amniocentesis,
3. chorionic
4. villus sampling,
5. maternal serum screening.