CME on birth defect

CME on Feb 27 2019 1PMWH, Kathmandu, Nepal

CME on BIRTH DEFECTS
Paropakar Maternity and Women’s Hospital
Thapathali, Kathmandu, Nepal
Head of Department: Dr Gehanath Baral
Resident Presenter: Dr Puja Das

Case scenario
– 24 yr G2P1 with normal delivery 5 yr ago; admitted at 33
wks for decreased fetal movement; CTG and Doppler
study performed for fetal bradycardia. Readmitted at 37
wks on Feb 18; fetal echo: ASD, PDA, LR shunt,
moderate TR, mild PAH, dilated RA/RV, LVEF 35-40%;
– Cesarean Section on 19 Feb, Apgar 5/10 & 7/10, 2.6 kg;
ECG: sinus bradycardia 45 bpm;
– Pacemaker placement denied by parents; NND on 3rd day.

PMWH 2018 data
• Total cases of birth defect observed: 193
• Causes:
– CNS anomalies: 42
– Gastrointestinal anomalies: 55
– Musculoskeletal anomalies: 52
– Others: 41

Key facts about birth defects
● ~3,03,000 newborns die within 4 weeks of birth every year
● Long term disability: impacts on individuals, families health care systems
and societies.
● The most common severe congenital anomalies:
○ Heart Defects
○ Neural Tube Defects
○ Down Syndrome
● Prevention:
○ Vaccination
○ Food fortification (Folic acid or iodine)
○ Adequate antenatal care
7CME on Feb 27 2019 PMWH, Kathmandu, Nepal

Causesof2.68million
NNDsin2015

WHAT IS BIRTH DEFECT?
● Birth defects (Congenital anomalies/malformations)
○ Structural or functional anomalies
○ That occur during intrauterine life
○ Can be identified prenatally, at birth, sometimes later in
infancy.
● Types:
○ Structural
○ Functional

● Structural birth defects: any anatomical abnormality of a body
structure (malformation)
○ Major anomalies : significant medical or cosmetic consequence.
e.g: spina bifida, hydrocephalous,cleft lip, heart defects, hypospadias, limb deficiency,
clubfoot, hip dislocation, omphalocele, Down syndrome, achondroplasia, Di george
syndrome.
○ Minor anomalies: medically insignificant and suspicious of major
problem. e.g: microtia,pigmented spots,short palpebral fissure etc.
Minor defect Chances of Major defect
1 3%
2 10%
3 20%

Functional birth defects: any altered function of a
molecule or an organ.
○ Inborn errors of metabolism: eg: phenylketonuria,
mucopolysaccharidosis.
○ Hematologic diseases: eg sickle cell
anemia,thalassemia,G6PD deficiency
○ Endocrine system diseases: hypothyroidism,
congenital adrenal hyperplasia.
○ Developmental disabilities : cerebral palsy, cognitive
and /or behavioural anomalies including autism.
Causes and risk factors: ~ 50% of all cannot be
linked to a specific cause

Genetic factors
– Can occur as a result of inherited genes that code for an
anomaly or from sudden changes in genes known as
mutation.
– Consanguinity also increases the prevalence of rare
genetical congenital anomalies.
– Communities like Ashkenazi, jews or Fins have a high
prevalence of rare genetic mutation like cystic fibrosis
and hemophilia C.

Socioeconomic and demographic factors
– Low income / higher frequency among resource constrained
families and countries.
– 94% of anomalies occur in low and middle income countries.
– Causes:
• Lack of access to sufficient nutrient by pregnant woman
• Increased exposure to infection and alcohol
• Poorer access to health services and screening.
• Maternal age is a risk factor for abnormality such as down
syndrome.

• Environmental
factors
–Infectious agents
–Radiation
–Drugs
–Hormones
–Maternal diseases
• Maternal nutritional
status
– Low folate  Neural
tube defects
– High Vit A intake 
may affect normal
development of an
embryo or fetus.

CME on Feb 27 2019 PMWH, Kathmandu, Nepal 15

Prevention
⁃ Removal of risk factors or reinforcement of protective factors.
⁃ Micronutrient supplementation to pregnant women
⁃ Avoidance of alcohol and tobacco during pregnancy.
⁃ Control diabetes prior to or during pregnancy, weight reduction
⁃ Vaccination against rubella
⁃ Screening for infections especially rubella, varicella, syphilis and
consider treatment
⁃ Eliminating exposure to heavy metals or pesticides
⁃ Judicial use of medications

Detection/Screening >>
● Preconception:
○ Family history and carrier screening, valuable in countries
where consanguinous marriage is common.
● Peri-conception screening:
○ Young or advanced maternal age
○ Use of tobacco, alcohol or other risks
● Postconception Ultrasound:
○ 1st tri: Down syndrome and major structural abnormalities
○ 2nd tri: severe fetal anomalies

⁃ Maternal serum markers or for free fetal DNA to screen
for many chromosomal abnormalities.
⁃ Increase of AFP NTDs, omphalocele, bladder exstrophy
⁃ Decrease of AFP down syndrome, trisomy 18
⁃ Chorionic villus sampling
⁃ Amniocentesis.
⁃ Neonatal screening:
⁃ Clinical examination
⁃ Screening for disorders of blood, deafness and heart defects
25
>>Detection/Screening
CME on Feb 27 2019 PMWH, Kathmandu, Nepal

Fetal therapy
⁃ Fetal transfusion
⁃ Fetal medical treatment
⁃ Fetal surgery
⁃ Stem cell transplantation and
gene therapy

REFERENCES
● Fact sheet http://www.who.int/topics/congenital
anomalies/en/
● http://www.worldbirthdefectsday.org/en/
● Langmans Medical Embryology 14th edition

CME on birth defect

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