Bibi halima college of syed

 Infections
 Consanguinity
 Prenatal nutrition and food allergies
 Maternal age
 Maternal drug therapy
 Effect of radiation, drug and
chemicals
 Maternal infections can be teratogenic,
can cause adverse effects to the
fertilized ovum, embryo or fetus.
 The occurrence of these infections can
involve diseases, either sexually
transmitted or through systemic infection.
 TORCH infections are identified as causing serious
harm to the embryo or fetus.
 Organisms in these infections can cross the
placenta. The organism may be a virus, bacteria or
a protozoan.
 The infected woman will manifest mild flu-like
symptoms while a serious or fatal
effect on a foetus or new-born is expected
 TORCHis an abbreviation for diseases
caused by Toxoplasma, Rubella,
Cytomegalovirus and Herpes Simplex
Virus.
 “O” stands for “other infections” which
could include syphilis, hepatitis B virus
and human immunodeficiency
virus (HIV).
 is caused by the protozoan Toxoplasma gondii.
 spread commonly through contact or eating poorly cooked or
uncooked meat. Handling infected cat stool in soil or cat litter.
 To begin with the disease is asymptomatic .
 Clinical Manifestations experienced by a pregnant woman with
toxoplasmosis are
 Myalgia
 Body malaise
 Rash
 Splenomegaly
 Cervical lymphadenopathy
 cause mild rash and systemic effects to the mother
but a devastating teratogenic effect on the fetus .
  The period of greatest risk on the fetus is during the
first trimester - infection during or between the third
and seventh week of pregnancy, the damage usually
results in fetal death.
 Permanent hearing impairment is most often the result
if the infection occurred in the early second trimester.
 is another teratogen that can cause extensive fetal
damage while the woman only manifests few symptoms.
 the virus can cause both congenital and acquired
infections referred to as cytomegalic inclusion disease.
 It is transmitted from person to person by droplet
infection.
 In pregnant females, the virus has the ability to cross the
placenta to the fetus or through the cervical route during
delivery.
 Thevirus can be found in urine, saliva, cervical mucus,
semen and breast milk.
A substantial risk to the fetus is noted in pregnant
women who have a primary first-episode herpes
infection.
 When a woman contacts the genital herpes
infection, systemic involvement occurs.
 After which the virus spreads to the bloodstream,
termed viremia, and crosses the placenta to the
fetus
 is a benign, self-limited, viral infection caused by
the varicella virus. However, chicken pox acquired
during pregnancy causes an increase risk of
complications to the mother and the infant.
 The time of infection, during early pregnancy or
near delivery, determines the risk to mother and
child
 Bacterial infection found in soft cheese,
cold deli meats and raw sea food
 Can cause still births and miscarriage
 Avoid these foods
 The Zika virus is transmitted by daytimeactive
mosquitoes as its vector
 Common symptoms of infection with the virus include
mild
headaches, maculopapular rash, fever, malaise,
conjunctivitis, and joint pains
 Zika fever is a relatively mild disease, however the
virus is capable of crossing the placenta into
amniotic fluid and causing microcephaly in the
growing fetus.
 Newborns born to infected mothers show that
newborns of mothers with positive/suspected
SARS-CoV-2 infection rarely acquire the disease or
show adverse clinical outcomes.
 WHO recommends that mothers with suspected or
confirmed COVID-19 should be encouraged to
initiate or continue to breastfeed. Mothers should be
counselled that the benefits of breastfeeding
substantially outweigh the potential risks for
transmission
 Means descent from a common ancestor
 Consanguineous couple are defined as being related i.e.
marriage between blood relations
 In case of consanguinity, abnormal recessive genes from
each parent have a chance to come together and may
produce consanguinity atrophy or genetic defect.
 Probability of carrying the same gene is very high among
blood relatives therefore mating between such couples
is likely to produce children with autosomal recessive
disorders like thalassemia, cystic fibrosis, Tay-Sachs
disease and galactosemia etc.
 As pregnant mothers are eating not only for
themselves but also for the baby, there are certain
foods that should be included in pregnancy diet
while others should be avoided
 Pregnant mothers should include lots of
proteins, carbohydrates, calcium, iron,
vitamins and folic acid in their diet.
 They should include vegetables, fruits,
meat/poultry, fluids, fats and oil.
 Folic acid supplement should also be taken to
avoid neural tube defects that are likely to occur
in the first stages of pregnancy.
 Foods to be avoided completely- raw sea food,
hard cheese, unpasteurized milk, any kind of
uncooked food, liver and liver products and
peanuts
 This is because all these carry food proteins
which could trigger an allergic response
 As a result of advancement in the age of the mother
there is increased risk of new mutations eg. Down‘
syndrome, skeletal dysplasia, ALL etc.
 Maternal age related trisomy per live birth is about
 20 yrs 1 in 2000
30 yrs 1 in 900
35 yrs 1 in 356
36yrs 1 in240
38 yrs 1 in180
40 yrs 1 in110
42 yrs 1 in70
44 yrs 1 in46
 Use of drugs during pregnancy and in lactating
mothers requires thorough understanding of the
interaction between the mother, fetus/infant and the
pharmacologic agent
 Maternal physiology related to drug absorption,
distribution, metabolism and excretion
 Placental transfer of drugs, or through breast milk
 Potential fetal harm, sp. Teratogenicity
 Many medications have side effects but
their benefits outweigh their risks, therefore
the aim should be to withdraw or reduce
the treatment as far as possible
 Woman should consult her doctor before
taking any drug
 Isotretinoin(accutane) and etretinate (tegison)- used
for treatment of acne and psoriasis may cause
chronic malformations during organ development.
 Anticonvulsants such as phenytoin (dilantin) and
carbamezapine (tegretol) are used for prevention of
epileptic seizures. These have been associated with
defects of heart and face and mental retardation
 Antimigraine drugs like ergotamine and
methysergide raise the risk of premature labor
 Aspirin,ibuprofen and other non steroidal anti
inflammatory drugs interfere with blood clotting and
increase the risk of uncontrolled bleeding for both
mother and the baby.
 Anticoagulants based on coumarin, used for treatment of
heart disease and stroke to slow blood clotting have
 been associated with facial malformations and mental
retardation
 Warfarin has been associated with hypoplastic nasal
structure and skeletal abnormalities
 Diazepam has been associated with cleft palate
 Tetracycline with stained teeth and depressed skeletal
growth
 Increased risk of childhood cancer associated with
antenatal obstetric irradiation was discovered many
yrs ago
 Since then X-ray examination in pregnancy has been
superseded by ultrasound examination
 Radiations can cause carcinogenicity, mutagenicity
and organ system toxicity
 Sensitivity of tissue to radiation is directly
proportional to its rate of proliferation. Therefore
human fetus is more sensitive to radiation than the
adult.
 Congenital abnormalities occur at a rate
of 2% with major defects occurring at a
rate of 1%of live births
 Many of these disorders can be
detected early in pregnancy to allow
treatment including termination of
pregnancy
 Prenatal investigations
 Many abnormalities can be detected by 17- 18
weeks by ultrasound depending on quality of
machine and operator
 Serological testing/ blood tests
 High resolution scanner is used if risks for
physical anomalies are high
 Genetic tests if there is family history of the
disease
Gene probes are now available for variety of
disorders like
 Cystic fibrosis
 Duchenne and becker muscular dystrophy
 Fragile X syndrome
 Thalassemias
 Haemophilia and
 Huntington’s disease
 However these tests are performed only if there
is family history of the disease, or people opt for
specific tests because of their occupation.
 is a form of prenatal diagnostic test used to
determine chromosomal or genetic
disorders in the fetus.
 It involves sampling of the chorionic villus
(placental tissue) and testing it for chromosomal
abnormalities, usually with FISH or PCR.
 CVS usually takes place at 10–12 weeks'
gestation. While amniocentesis or percutaneous
umbilical cord blood sampling are performed
later. CVS is the preferred technique
 Is usually performed at 17-18 weeks
 Is more accurate than CVS
 But allows less time for MTP(<20 weeks)
 Liquor rich in shed fetal cells is cultured
and tested for genetic defects and late
in pregnancy may be tested for fetal
lung maturity
This involves percutaneous, ultrasound guided,
cord blood sampling for
 Assessment of fetal blood disorders
(isoimmunisation haemolytic disease of
infants)
 Fetal infections and
 Chromosomal karyotyping
Biological inability of a man or a
woman to contribute to
conception and/or inability of a
woman to carry a pregnancy to
its full term.
A couple is considered infertile if
The couple has not conceived after 12
months of contraceptive-free intercourse
and if the female is under the age of 34
The couple has not conceived after 6
months of contraceptive free intercourse if
the female is over the age of 35
Female is incapable of carrying a pregnancy
Infertility is grouped into two categories:
 Primary infertility refers to couples who
have not become pregnant after at
least 1 year of unprotected sex
(intercourse).
 Secondary infertility refers to couples
who have been pregnant at least once,
but never again.
Could be due to
 Age….fertility peaks in early 20s-late 20s and
declines dramatically after 35
 Hormonal imbalance… ovaries do not
mature and release eggs
 Structural defects
 infections
 Genetic make up
 Environmental factors…cigarette smoking,
diet - over weight and under weight
Male infertility may be due to:
 A decrease in sperm count: a sperm
count of <40 million/ml
 Sperm being blocked from being
released
 Sperm that do not work properly-
abnormal sperm
 Both male and female are tested if pregnancy fails to
occur after a period of one year of regular unprotected
sexual intercourse
 Detailed fertility history of the couple is taken to ascertain
the medical or sexual factor
 frequency and timing of intercourse,
 duration of infertility,
 childhood illnesses,
 any serious illness (diabetes, respiratory infection, cancer
or previous surgeries
 Sexual history….sexually transmitted disease
 Exposure to chemicals or radiations 
History of medications and allergies
 Family history of reproductive problems
 Neural tube defect (NTD) is one of the commonest
malformations with worldwide prevalence of 1-
3/1000 live births.
 Significant cause of fetal loss
 caused by failure of neural tube to close during
neurulation in 21-28 embryonic days.
 common types of NTD are anencephaly and spina
bifida, which are caused by failure of closure of
cranial pore and spinal part of neural tube,
respectively
 Itresults when the upper
part of the neural tube
fails to close.
 Symptoms formed and remain unfused
and open.
 Absence of the skull
 Absence of the brain
(cerebral hemispheres and
cerebellum)
 Facial feature
abnormalities
 Heart defects  spina bifida may be open or
Anencephaly Spina bifida
 is also caused by the closed depending upon
incomplete closing of the whether the spinal defect is
embryonic neural tube. covered by skin or not.
 Some vertebrae overlyin g the
spinal cord are not fully
Periconceptional use of folic acid is known
to be associated with definite
decrease in prevalence of NTDs by 50%-
70%
 Folic acid is an essential vitamin that cannot
be synthesized by human body and has to be
provided by diet only.
 The metabolically active form of folate is 5-
methyl tetrahydrofolate (5-MTHF), which is
required for various methyl donation/one
carbon reaction, DNA and RNA synthesis,
DNA methylation and homocysteine
metabolism.
 Conversion of dietary folate to 5-MTHF
requires activity of multiple enzyme and
cofactors including vitamin B12
 The efficacy of folic acid in prevention of NTD
had prompted studies into genes involved in
folic acid pathways : MTFHR and p53 genes
have been associated with NTD
Besides NTD,
 Folic acid supplementation prevents systolic
hypertension due to large artery stiffness
 Folate may help prevent cancer as it is involved in
synthesis repair and functioning of DNA. Diets
 high in folate are associated with decreased risk of
colorectal cancer, pancreatic cancer and breast
cancer
 Folate is necessary for fertility in both males and
females. In men it contributes to spermatogenesis
and in women in oocyte maturation, implantation
and placentation
 Diagnosis of NTDs is routinely done by
antenatal ultrasound (USG) at 18-20 weeks
of pregnancy.
 Severe defects like anencephaly can be
picked by USG as early as 11-12 weeks of
pregnancy.
 Neural tube defects can be detected by Alpha
feto protein and acetycholinesterase in the
amniotic fluid and the maternal blood.
 AFP, a circulating fetal protein produced by
liver, peaks at 12-14 weeks of gestation and
subsequently declines. AFP leaks from the fetus
into amniotic fluid occurs through exposed
capillaries of the NTD. Resulting in persistently
high
levels of AFP in amniotic fluid and maternal
blood
 Similarly,Acetylcholinesterase leaks directly
from the exposed neural tissue into the amniotic
fluid
 Fetal karyotyping can be done to detect
chromosomal defects
 Surgical closure of protruding sac and
continued assessment of growth and
development
 Supportive measures to promote
independence and prevent
complications
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