Congenital Malformations

Congenital Malformations
Submitted To: Submitted By:
Mrs. Neha Mohan Sinha Vedanjali

Department of Nutrition M.Sc. I Sem II
Isabella Thoburn College N-2013
Introduction
Introduction
Cause and Risk Factors
Prevention
Detection
Treatment and Care
Chromosomal Abnormalities
Bibliography
Introduction
Congenital anomalies are also known as birth defects,
congenital disorders or congenital malformations.
Congenital anomalies can be defined as structural or
functional anomalies that occur during intrauterine life and
can be identified prenatally, at birth, or sometimes may only
be detected later in infancy, such as hearing defects.
In simple terms, congenital refers to the existence at or
before birth.
Congenital anomalies are important causes of infant and
childhood deaths, chronic illness and disability.
Some examples are- cleft lip and cleft palate, cerebral palsy,
Fragile X syndrome, Down syndrome, spina bifida, cystic
fibrosis
Cause and Risk Factors
Genetic Factors
Socioeconomic and demographic factors
Environmental Factors
Infections
Maternal Nutritious Status
Genetic Factors
Genes play an important role in many congenital
anomalies.
Consanguinity also increases the prevalence of
rare genetic congenital anomalies and nearly
doubles the risk for neonatal and childhood
death, intellectual disability, and other anomalies.
Some ethnic communities (such as Ashkenazi
Jews or Finns) have a comparatively high
prevalence of rare genetic mutations such as
Cystic Fibrosis and Haemophilia C.
Socioeconomic and Demographic Factors
Low-income may be an indirect determinant of congenital
anomalies, with a higher frequency among resource-constrained
families and countries.
 An indirect determinant, this higher risk relates to a possible
lack of access to sufficient, nutritious foods by pregnant women,
an increased exposure to agents or factors such as infection and
alcohol, or poorer access to healthcare and screening.
Factors often associated with lower-income may induce or
increase the incidence of abnormal prenatal development.
Maternal age is also a risk factor for abnormal intrauterine
foetal development.
 Advanced maternal age increases the risk of chromosomal
abnormalities, including Down syndrome.
Environmental Factors
Maternal exposure to certain pesticides and
other chemicals, as well as certain medications,
alcohol, tobacco and radiation during pregnancy,
may increase the risk of having a foetus or
neonate affected by congenital anomalies.
Working or living near, or in, waste sites,
smelters or mines may also be a risk factor,
particularly if the mother is exposed to other
environmental risk factors or nutritional
deficiencies.
Infections
Maternal infections such as syphilis and rubella
are a significant cause of congenital anomalies
in low- and middle-income countries.
Zika virus infection during pregnancy is a
cause of microcephaly and other congenital
abnormalities in the developing foetus and new
born.
Zika infection in pregnancy also results in
pregnancy complications such as foetal loss,
stillbirth, and preterm birth.
Maternal Nutritious Status
Maternal folate insufficiency increases
the risk of having a baby with a neural
tube defect while excessive vitamin A
intake may affect the normal development
of an embryo or foetus.
Prevention
Ensuring adolescent girls and mothers have a healthy diet
including a wide variety of vegetables and fruit, and maintain a
healthy weight.
Ensuring an adequate dietary intake of vitamins and minerals, and
particularly folic acid in adolescent girls and mothers;
Ensuring mothers avoid harmful substances, particularly alcohol
and tobacco.
Avoidance of travel by pregnant women (and sometimes women
of child-bearing age) to regions experiencing outbreaks of
infections known to be associated with congenital anomalies.
Reducing or eliminating environmental exposure to hazardous
substances (such as heavy metals or pesticides) during pregnancy.
Vaccination, especially against the rubella virus, for children and
women.
Detection
Preconception screening can be useful to identify those at risk for specific disorders or at risk of
passing a disorder onto their children.
Pre-conception screening: maternal characteristics may increase risk, and screening results should
be used to offer appropriate care, according to risk.
 This may include screening for young or advanced maternal age, as well as screening for use of
alcohol, tobacco or other risks.
Ultrasound can be used to screen for Down syndrome and major structural abnormalities during
the first trimester and for severe foetal anomalies during the second trimester.
Maternal blood can be screened for placental markers to aid in prediction of risk of chromosomal
abnormalities or neural tube defects, or for free foetal DNA to screen for many chromosomal
abnormalities.
Diagnostic tests such as chorionic villus sampling and amniocentesis can be used to diagnose
chromosomal abnormalities and infections in women at high risk.
Neonatal screening includes clinical examination and screening for disorders of the blood,
metabolism and hormone production.
 Screening for deafness and heart defects, as well as early detection of congenital anomalies, can
facilitate life-saving treatments and prevent progression towards some physical, intellectual,
visual, or auditory disabilities.
In some countries, babies are routinely screened for abnormalities of the thyroid or adrenal glands
before discharge from the maternity unit.
Treatment and Care
Many structural congenital anomalies can
be corrected with paediatric surgery and
early treatment can be administered to
children with functional problems such as
thalassemia (inherited recessive blood
disorders), sickle cell disorders, and
congenital hypothyroidism (reduced
function of the thyroid).
Bibliography
centerforfetalmedicine.com
who.int

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Congenital Malformations

Submitted To: Submitted By:

Mrs. Neha Mohan Sinha Vedanjali

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