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INTRODUCTION
The fetal skull contains the delicate brain,
which may be subjected to great pressure as the
head passes through the birth canal. It is large in
relation to the fetal body and in comparison with
the mothers pelvis, therefore some adaptation
between skull and pelvis must take place during
labor. The head is the most difficult part to be
born whether it comes first or last.
INTRODUCTION– Conti..,
The fetal skull is the most important part of the
fetus from obstetric point of view.
Adaptation between the skull and the pelvis is
necessary to allow the head to pass through the
pelvis during labour without complications.
The fetal skull is made up of ossified &
incompressible base of skull & pliable vault or
cranium made of tabular (flat) bones separated at
their edges by sutures & fontanelles.
AREAS & regions
 The skull is
considered as
divided into 3 parts –
VAULT, FACE &
BASE.
 The areas are-
 OCCIPUT, VERTEX,
SINCIPUT OR
BROW AND FACE
AREAS
1. Occiput
2. Vertex
3. Sinciput
4. Face
5. Neck
6. Base
BONES
 Frontal bone – 2
 Temporal bone – 2
 Parietal bone – 2
 Occipital bone – 1
SUTURES
Sutures are spaces between
cranial bones occupied
by membranes.
 Saggital suture - 1
 Frontal suture - 1
 Coronal suture - 2
 Lambdoid suture - 1
Importance of sutures
1. It Permit gliding movement of 1 bone over the
other during moulding of head which is needed for
vaginal delivery.
2. Digital Palpation of sagittal suture with fingers
during vaginal examination in labour gives
information about position, degree of internal
rotation & moulding of head.
FONTANELLES: Wide gap in suture line
FEATURES ANTERIOR POSTERIOR
Other name Bregma Lambda
Location Lies in medial plane between
2 halves of frontal & 2
parietal bones where 4
sutures (frontal, sagittal & 2
coronal sutures) meet
At junction of saggital suture
with 2 lambdoid sutures (where
3 sutures meet) in between
occipital & parietal bones.
Shape Diamond Triangular
Diameter 3 x 3 cm 1.2 x 1.2 cm
Ossified at One & half years (18 months) One & half month
Importance of fontanelles
1. Palpation of posterior fontanel during vaginal
examination denotes the position of occiput of head
(occipito-anterior or occipito-posterior position)
2. Palpation of anterior fontanel will denote the degree
of flexion of head. (if head is well flexed as in occipito-
anterior position, the anterior fontanel is not usually
palpable. If anterior fontanel is easily palpable, head
is usually deflexed as in occipito-posterior position.
Conti…
3. Helps in moulding of head.
4. Due to its membranous nature, the anterior fontanel
aids to accommodate the marked brain growth after
birth.
5. After birth, the fontanelles are useful to assess the
condition of baby. Ex: if dehydration then they are
depressed & in increased ICP then they may be tense &
bulging.
ANTERIO-POSTERIOR DIAMETERS
 Suboccipito-bregmatic = 9.5 cm
 Suboccipito-frontal = 10 cm
 Occipito-frontal = 11.5 cm
OBLIQUE DIAMETERS:
 Submento -bregmatic = 9.5 cm
 Submento -vertical = 11.5 cm
 Mento-vertical = 14 cm (largest)
Transverse diameters
 Bi parietal = 9.5 cm
 Super subparital =
8.5 cm
 Bi temporal = 7.5 cm
 Bi mastoid = 7 cm
(smallest)
moulding
 It is the alteration of the
shape of the fore coming
head while passing
through the resistant
birth passage during
labor.
 Grading
 Grade I
 Grade II
 Grade III
Importance
 Slight moulding is inevitable and beneficial. It
enables the head to pass more easily, through the
birth canal.
 Extreme moulding as met in disproportions may
produce severe intracranial disturbance in the
form of tearing of tentorium cerebelli or subdural
hemorrhage
 Shape of the moulding can be a useful
information about the position of the head
occupation in the pelvis.
Caput Succedaneum
 It is the formation
of swelling due to
stagnation of fluid
in the layers of the
scalp beneath the
girdle of contact
Importance
 It signifies static position of the head for a
long period of time
 Location of the caput gives an idea about the
position of the occupied in the pelvis and the
degree of flexion achieved
 In left position, the caput is placed on right
parietal bone and in right position on the
parietal bone
 With increasing flexion, the caput is placed
more posteriorly
The Intracranial Membranes And Sinuses
The skull contains delicate structures,
some of which may be damaged if the
head is subjected to abnormal
moulding during delivery
Among the most important are the
folds of duramater and the venous
sinuses associated with them
These membranes are continuous with
the duramater that lines the cranium
The Intracranial Membranes And Sinuses
1. The falx ceribri
2. The tentorium cerebelli
3. The superior sagittal sinus
4. The inferior sagittal sinus
5. The great cerebral vein of galen
6. The straight sinus
7. Two lateral sinuses
1.The falx ceribri
 This is a sickle shaped fold of membrane
that dips down between the two cerebral
hemispheres and runs beneath the frontal
and sagittal sutures from the root of the
nose to the internal occipital protuberance
2.The tentoriumcerebelli
 This is a horizontal fold of durameter that
lies in the posterior part of the skull at
right angles to the falx cerebri
 It is shaped like horseshoe and situated
between the cerebrum and the cerebellum,
over which it forms a sort of tent
 The membranes contain veins or sinuses
that drains blood from the brain
3.The superior sagittal sinus
 This runs along the upper edge of the falx
cerebri from front to back
4.The inferior sagittal sinus
 This runs along the lower edge
of the falx cerebri in the same
direction
5. The great cerebral vein of galen
 This meets the inferior sagittal sinus at
the inner end of the junction between
the falx and the tentorium
6. The straight sinus
 This drains blood from both the great
cerebral vein and the inferior sagittal sinus
along the junction of the falx and tentorium
 The point where it reaches the skull and
receives blood from the superior sagittal
sinus is known as the ‘ Confluence of sinuses’
7.Two lateral sinuses
 These passes from the confluence of sinuses
along the outer edge of the tentorium cerebelli
and carry blood to the internal jugular veins
 The most vulnerable point of these structures
is where the falx is attached to the tentorium
 The tentorium is liable to tear and there is a
danger of bleeding from the great cerebral
vein
summery
So far we have seen about the fetal
skull, the areas, landmarks, sutures, bones,
fontenelles ,moulding , caputsuccetaneum,
and the sinuses of fetal head in datail.
Introduction
 The science of genetics is concerned
with disease processes that can be
passed from one generation to the next
or that are related to a defect in
chromosomal reproduction. The range
of genetic problems is considerable.
Some are incompatable with life, others
may cause little description to the life
processes
Aim of genetic counselling
Detection and identification of
couples, who are at risk for having a
child with an inherited (chromosomal
or genetic) disorders
Etiological factors for fetal malformations
 Chromosomal abnormalities
 Single gene disorder polygenic or
multifactorial disorders
 Teratogenic disorders due to exposure
of exogenous factors (drugs)
Risk factors for prenatal genetic counselling
Maternal risk factors
 Maternal age above 35 years
 Previous baby born with neural tube defect
 Family H/O neural tube defect
 Previous baby with chromosomal abnormalities
 One or both parent carriers of sex linked or
autosomal traits
 H/O recurrent miscarriages
Prenatal risk factors
 Oligohydromnios
 Polyhydromnios
 Severe symmetrical fetal growth restriction
 Abnormal USG findings
 Uncontrolled DM in the periconceptual period
 Contact with infections (tetarogenic)
 Eg. rubella, CMV or intake of tetarogenic drugs
 Presence of soft tissue markers of chromosomal
anomaly on USG
 Abnormal maternal serum screenings
I.Chromosomal abnormalities
They result when mitosis and meiosis do not occur
in a normal fusion. Several type of these are described in
the following list..
1. Nondisjunction
2. Aneuploidy
3. Trisomy
4. Monosomy
5. Mosaicism
6. translocation
1.Nondisjunction
It is the unequal distribution
of chromosomes to the daughter cells
during mitosis or meiosis. This
accounts for the majority of numeric
chromosomes abnormalities
2.Aneuploidy
Is the result of numeric
chromosome errors. This usually results
in major developmental defects of the
fetus. Although many are incompatible
with life, certain combinations of these
defects can result in live born infants.
3.Trisomy
It means an extra
chromosome is present in each cell
4. Monosomy
It indicates that a
chromosome is missing
5. Mosaicism
It is the presence of two or more
sets of cells that differ in their genetic
makeup but arise from single cells
6. translocation
It is a structural chromosomal error that
result from breakage and restructuring of the
defects or an unbalanced carriers. If
translocation occurs without loss of genetic
information, the carrier does not suffer major
phenotype consequences if paired with a
normal person. However, two people with
translocation can produce offspring with
serious genetic abnormalities.
Manifestations of Chromosomal abnormalities
 Chromosomal abnormalities occur once in
every 400 pregnancies
 These result in mental retardation, congenital
anomalies or both
 These can be minor or major or life-
threatening
 Eg. Trisomy 21, Trisomy 13 & Trisomy 18 and
Turner’s syndrome & Klinefelter’s syndrome
II. Mendelian disorder
Many genetic disorders result from
mechanism described by Mendel. These are
classified according to characteristics of the
abnormal gene pattern.
1. Autosomal Dominant Disorder
2. Autosomal Recessive Disorder
3. X- Linked Recessive Disorder
1.Autosomal Dominent Disorder
 These are those in which the presence of a single
abnormal gene results in phenotypical changes or
diseases, despite the normally of the other members of
the gene pair
 This may occur as a result of a mutation or by
transmission of an abnormal gene from one parent
 A parent with an autosomal dominant disorder has a
50% chance of passing the abnormal gene to offspring
 expression and penetration of some dominant very
greatly. Diagnosis of autosomal dominant disorders is
sometimes possible only after birth
2.Autosomal Recessive Disorder
 They are those in which both members of the
gene pair are abnormal
 During meiosis, the abnormal gene is passed to
the gamate
 However, if the other parent has normal genetic
structure, the abnormal gene contributed by the
affected parent usually is not expressed
 The offspring, however are carriers of the defect
and are termed ‘ Heterozygous’ for the abnormal
gene
Conti..
 If both parents carry recessive genes for a specific
disorder, one child in 4 is affected with that
disorder and one child in 2 is a carrier
 Depict the process of recessive inheritance
 Other genetic traits, such as eye color, hair color,
left or right hand dominance also passed to
offspring in this manner
3.x- linked recessive disorder
 They are present only on the X-
chromosomes
 In normal women, one X-chromosomes in
each pair is inactive and may be visualized
as a ‘Barr Body’
 A chromatic mass found in the
chromosome is random
 The inactivation of the X-chromosome is
random
Conti..
 A women with X-linked, but unless majority of
normal genes are inactivated the disease will not
be manifest
 In reproduction, if the abnormal gene is active and
passed to the gamate, the male offspring will
manifest the disorder, because the X-chromosome
in each male cell is active
 Female offspring may be carrier of the disorder.
Half of the offspring will either be carriers or will
manifest the disorder
Manifestation of medalian disorder
 Single gene defects account for a considerable
number with genetic problems associated with
medelian disorder
 Careful history taking and appropriate genetic
testing can identify fetuses affected with these
disorders
 Eg. OI (Osteogenesis Imperfecta), Marfan
syndrome, Cystic fibrosis, Phenylketonuria(PKU),
Sickle cell anemia, hemophilia A& B, Duchanne’s
muscular Dystrophy, Fragile X syndrome
III. Multifactorial defects
 Many common birth defects are multifactorial
 A genetic predisposition to a lower threshold for
development abnormalities
 Genetic combination may have a cumulative effect
by adding factors, such as family history, chance of
certain environmental factors
 Eg. Exposure to toxic chemicals or radiation, use of
recreational drugs
Manifestations of Multifactorial Defects
 Neural tube defects
 Anencephaly
 Myelomeningocele (Spina bifida)
 Encephalocele
 Facial deformities
Procedures for early detection of fetal abnormalities
Bio- physical
& Bio-
chemical
Trimester
wise
Invasive &
Non
invasive
bIochemical analysis
 Maternal serum alpha fetoprotein (MSAFP)
 AFP is an oncofetal protein, is produced by yolk sac and fetal liver
 The highest level is reached around 13 week and then decreases
 Maternal serum level reaches a peak around 32 weeks
 MSAFP level elevated in following conditions
 Wrong gestational age
 Open neural tube defects
 Multiple pregnancy
 Rh isoimmunization
 Anterior abdominal wall defects
 Renal abnormalities
 Low level of found in Trisomy (Down syndrome), Gestational Trophoblastic
diseases.
Conti…
 Inhibin A
 It is a dimeric glycoprotein. It produced by the corpus luteum and the
placenta
 The raised level indicate Down syndrome
 others
 HCG / UE3 /PAPP-A
 HCG is produced by the syncytotrophoblast of the placenta secreted into
the blood to both mother and fetus the blood and the urine values reaches
maximum level from 100 to 200 IU/ml between 60 to 70 days of pregnancy
 high level of HCG in the following conditions -multiple pregnancy
/hydatidiform mole/choriocarcinoma/Down syndrome
 the lower level in pregnancies under spontaneous abortion
 PAPP-A is secreted as HCG.it as an immuno suppressants in pregnancy. low
level is associated with increased risk of preeclampsia and IUGR
Screening methods- 1st trimuster
•USG ( NT)
Bio
physical
•Free b-hcG
•PAPP-A
Bio
chemical
Conti…
 Time to test : between 11-14 weeks
 Values:
 PAPP-A - Reduce
 b hcG - Increased
 NT - Increased In Trisomy
 Advantages:
 Once a women is screen positive, diagnostic tests
should be done early. Targeted USGS during the
second trimester and fetal ECHO are to be done
when NT more than or equal to 3 mm
Second trimester screening
 It is done between 15 to 22 weeks
 MSAFP:
 This is done between 15 to 20 week values of 2.5 multiples of median with weight of
the mother. Increased levels 85% defect neural tube defects. Lower level indicates
stillbirths, miscarriages, neonatal deaths
 Triple test:
 combined test of MSAFP, HCG and UE3 Down syndrome
 In an affected pregnancy MSAFP & UE3 low and HCG is high
 It performed at 15 to 22 weeks
 Quadruple test:
 Combined test of MSAFP, UE3 ,dimeric inhibin-A and HCG
 It detects 85% trisomy 21 where
 HCG - increased
 UE3 -reduced
 Inhibin-A- elevator
 MSAFP - reduced
Invasive procedures
 Chorionic villus sampling
 Is performed transcervically between 10-13 weeks and
transabdominally from 10 weeks to term. The following
condition can be detected eg. Down syndrome, Turner
syndrome, neural tube defects.
 Amniocentesis
 It performed after 15 weeks under USG guidance
transabdominally. The fetal cells obtained in this and are
subjected for cytogenetic analysis.
 cardocentesis
 percutaneous umbilical cord sampling. It may leads to
abortion, preterm labor, IUD etc. Fetal anemia, bleeding
disorders, RH diseases, hemoglobinopathies etc are to be
obtained.
Non invasive procedures
 As fetal DNA and biophysical measures such as
USG/ MRI are to be carried out throughout the
pregnancy. example all congenital anomalies,
chromosomal abnormalities, structural
abnormalities
summery
so far we have see about the genetic
counselling, their aims, etiology, risk
factors, types, procedures, screening
methods in various aspects of procedures
conclusion
Genetic counselling gives you
informatics about how genetic conditions might
affect the family and the baby. It helps to
understanding genetic disorders in important in
learning more about promoting health and
preventing disease
Journal application
 Topic: Supporting patient autonomy and informed
decision making in prenatal genetic testing
 Authors: Katie Stoll & Judith Jackson
 Conclusions: Genetic counsellors have played a
crucial role in supporting patient to make informed
and value consistent decisions in the prenatal
genetic setting since prenatal screening and
diagnosis were first possible. A complete set of
tests such as of DNA and expanded carrier testing
become more routine in obstetrical care, the
percentage of patients who work directly with a
genetic counselor to help them navigate through
the decision making process will necessarily
decrease.
Fetal Skull obstetrics and gynecological

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Fetal Skull obstetrics and gynecological

  • 1.
  • 2.
  • 3. INTRODUCTION The fetal skull contains the delicate brain, which may be subjected to great pressure as the head passes through the birth canal. It is large in relation to the fetal body and in comparison with the mothers pelvis, therefore some adaptation between skull and pelvis must take place during labor. The head is the most difficult part to be born whether it comes first or last.
  • 4. INTRODUCTION– Conti.., The fetal skull is the most important part of the fetus from obstetric point of view. Adaptation between the skull and the pelvis is necessary to allow the head to pass through the pelvis during labour without complications. The fetal skull is made up of ossified & incompressible base of skull & pliable vault or cranium made of tabular (flat) bones separated at their edges by sutures & fontanelles.
  • 5. AREAS & regions  The skull is considered as divided into 3 parts – VAULT, FACE & BASE.  The areas are-  OCCIPUT, VERTEX, SINCIPUT OR BROW AND FACE
  • 6. AREAS 1. Occiput 2. Vertex 3. Sinciput 4. Face 5. Neck 6. Base
  • 7. BONES  Frontal bone – 2  Temporal bone – 2  Parietal bone – 2  Occipital bone – 1
  • 8. SUTURES Sutures are spaces between cranial bones occupied by membranes.  Saggital suture - 1  Frontal suture - 1  Coronal suture - 2  Lambdoid suture - 1
  • 9. Importance of sutures 1. It Permit gliding movement of 1 bone over the other during moulding of head which is needed for vaginal delivery. 2. Digital Palpation of sagittal suture with fingers during vaginal examination in labour gives information about position, degree of internal rotation & moulding of head.
  • 10.
  • 11.
  • 12. FONTANELLES: Wide gap in suture line FEATURES ANTERIOR POSTERIOR Other name Bregma Lambda Location Lies in medial plane between 2 halves of frontal & 2 parietal bones where 4 sutures (frontal, sagittal & 2 coronal sutures) meet At junction of saggital suture with 2 lambdoid sutures (where 3 sutures meet) in between occipital & parietal bones. Shape Diamond Triangular Diameter 3 x 3 cm 1.2 x 1.2 cm Ossified at One & half years (18 months) One & half month
  • 13. Importance of fontanelles 1. Palpation of posterior fontanel during vaginal examination denotes the position of occiput of head (occipito-anterior or occipito-posterior position) 2. Palpation of anterior fontanel will denote the degree of flexion of head. (if head is well flexed as in occipito- anterior position, the anterior fontanel is not usually palpable. If anterior fontanel is easily palpable, head is usually deflexed as in occipito-posterior position.
  • 14. Conti… 3. Helps in moulding of head. 4. Due to its membranous nature, the anterior fontanel aids to accommodate the marked brain growth after birth. 5. After birth, the fontanelles are useful to assess the condition of baby. Ex: if dehydration then they are depressed & in increased ICP then they may be tense & bulging.
  • 15. ANTERIO-POSTERIOR DIAMETERS  Suboccipito-bregmatic = 9.5 cm  Suboccipito-frontal = 10 cm  Occipito-frontal = 11.5 cm
  • 16. OBLIQUE DIAMETERS:  Submento -bregmatic = 9.5 cm  Submento -vertical = 11.5 cm  Mento-vertical = 14 cm (largest)
  • 17. Transverse diameters  Bi parietal = 9.5 cm  Super subparital = 8.5 cm  Bi temporal = 7.5 cm  Bi mastoid = 7 cm (smallest)
  • 18. moulding  It is the alteration of the shape of the fore coming head while passing through the resistant birth passage during labor.  Grading  Grade I  Grade II  Grade III
  • 19. Importance  Slight moulding is inevitable and beneficial. It enables the head to pass more easily, through the birth canal.  Extreme moulding as met in disproportions may produce severe intracranial disturbance in the form of tearing of tentorium cerebelli or subdural hemorrhage  Shape of the moulding can be a useful information about the position of the head occupation in the pelvis.
  • 20. Caput Succedaneum  It is the formation of swelling due to stagnation of fluid in the layers of the scalp beneath the girdle of contact
  • 21.
  • 22. Importance  It signifies static position of the head for a long period of time  Location of the caput gives an idea about the position of the occupied in the pelvis and the degree of flexion achieved  In left position, the caput is placed on right parietal bone and in right position on the parietal bone  With increasing flexion, the caput is placed more posteriorly
  • 23. The Intracranial Membranes And Sinuses The skull contains delicate structures, some of which may be damaged if the head is subjected to abnormal moulding during delivery Among the most important are the folds of duramater and the venous sinuses associated with them These membranes are continuous with the duramater that lines the cranium
  • 24. The Intracranial Membranes And Sinuses 1. The falx ceribri 2. The tentorium cerebelli 3. The superior sagittal sinus 4. The inferior sagittal sinus 5. The great cerebral vein of galen 6. The straight sinus 7. Two lateral sinuses
  • 25. 1.The falx ceribri  This is a sickle shaped fold of membrane that dips down between the two cerebral hemispheres and runs beneath the frontal and sagittal sutures from the root of the nose to the internal occipital protuberance
  • 26. 2.The tentoriumcerebelli  This is a horizontal fold of durameter that lies in the posterior part of the skull at right angles to the falx cerebri  It is shaped like horseshoe and situated between the cerebrum and the cerebellum, over which it forms a sort of tent  The membranes contain veins or sinuses that drains blood from the brain
  • 27. 3.The superior sagittal sinus  This runs along the upper edge of the falx cerebri from front to back
  • 28. 4.The inferior sagittal sinus  This runs along the lower edge of the falx cerebri in the same direction
  • 29. 5. The great cerebral vein of galen  This meets the inferior sagittal sinus at the inner end of the junction between the falx and the tentorium
  • 30. 6. The straight sinus  This drains blood from both the great cerebral vein and the inferior sagittal sinus along the junction of the falx and tentorium  The point where it reaches the skull and receives blood from the superior sagittal sinus is known as the ‘ Confluence of sinuses’
  • 31. 7.Two lateral sinuses  These passes from the confluence of sinuses along the outer edge of the tentorium cerebelli and carry blood to the internal jugular veins  The most vulnerable point of these structures is where the falx is attached to the tentorium  The tentorium is liable to tear and there is a danger of bleeding from the great cerebral vein
  • 32. summery So far we have seen about the fetal skull, the areas, landmarks, sutures, bones, fontenelles ,moulding , caputsuccetaneum, and the sinuses of fetal head in datail.
  • 33.
  • 34. Introduction  The science of genetics is concerned with disease processes that can be passed from one generation to the next or that are related to a defect in chromosomal reproduction. The range of genetic problems is considerable. Some are incompatable with life, others may cause little description to the life processes
  • 35. Aim of genetic counselling Detection and identification of couples, who are at risk for having a child with an inherited (chromosomal or genetic) disorders
  • 36. Etiological factors for fetal malformations  Chromosomal abnormalities  Single gene disorder polygenic or multifactorial disorders  Teratogenic disorders due to exposure of exogenous factors (drugs)
  • 37. Risk factors for prenatal genetic counselling Maternal risk factors  Maternal age above 35 years  Previous baby born with neural tube defect  Family H/O neural tube defect  Previous baby with chromosomal abnormalities  One or both parent carriers of sex linked or autosomal traits  H/O recurrent miscarriages
  • 38. Prenatal risk factors  Oligohydromnios  Polyhydromnios  Severe symmetrical fetal growth restriction  Abnormal USG findings  Uncontrolled DM in the periconceptual period  Contact with infections (tetarogenic)  Eg. rubella, CMV or intake of tetarogenic drugs  Presence of soft tissue markers of chromosomal anomaly on USG  Abnormal maternal serum screenings
  • 39. I.Chromosomal abnormalities They result when mitosis and meiosis do not occur in a normal fusion. Several type of these are described in the following list.. 1. Nondisjunction 2. Aneuploidy 3. Trisomy 4. Monosomy 5. Mosaicism 6. translocation
  • 40. 1.Nondisjunction It is the unequal distribution of chromosomes to the daughter cells during mitosis or meiosis. This accounts for the majority of numeric chromosomes abnormalities
  • 41. 2.Aneuploidy Is the result of numeric chromosome errors. This usually results in major developmental defects of the fetus. Although many are incompatible with life, certain combinations of these defects can result in live born infants.
  • 42. 3.Trisomy It means an extra chromosome is present in each cell
  • 43. 4. Monosomy It indicates that a chromosome is missing
  • 44. 5. Mosaicism It is the presence of two or more sets of cells that differ in their genetic makeup but arise from single cells
  • 45. 6. translocation It is a structural chromosomal error that result from breakage and restructuring of the defects or an unbalanced carriers. If translocation occurs without loss of genetic information, the carrier does not suffer major phenotype consequences if paired with a normal person. However, two people with translocation can produce offspring with serious genetic abnormalities.
  • 46. Manifestations of Chromosomal abnormalities  Chromosomal abnormalities occur once in every 400 pregnancies  These result in mental retardation, congenital anomalies or both  These can be minor or major or life- threatening  Eg. Trisomy 21, Trisomy 13 & Trisomy 18 and Turner’s syndrome & Klinefelter’s syndrome
  • 47. II. Mendelian disorder Many genetic disorders result from mechanism described by Mendel. These are classified according to characteristics of the abnormal gene pattern. 1. Autosomal Dominant Disorder 2. Autosomal Recessive Disorder 3. X- Linked Recessive Disorder
  • 48. 1.Autosomal Dominent Disorder  These are those in which the presence of a single abnormal gene results in phenotypical changes or diseases, despite the normally of the other members of the gene pair  This may occur as a result of a mutation or by transmission of an abnormal gene from one parent  A parent with an autosomal dominant disorder has a 50% chance of passing the abnormal gene to offspring  expression and penetration of some dominant very greatly. Diagnosis of autosomal dominant disorders is sometimes possible only after birth
  • 49. 2.Autosomal Recessive Disorder  They are those in which both members of the gene pair are abnormal  During meiosis, the abnormal gene is passed to the gamate  However, if the other parent has normal genetic structure, the abnormal gene contributed by the affected parent usually is not expressed  The offspring, however are carriers of the defect and are termed ‘ Heterozygous’ for the abnormal gene
  • 50. Conti..  If both parents carry recessive genes for a specific disorder, one child in 4 is affected with that disorder and one child in 2 is a carrier  Depict the process of recessive inheritance  Other genetic traits, such as eye color, hair color, left or right hand dominance also passed to offspring in this manner
  • 51. 3.x- linked recessive disorder  They are present only on the X- chromosomes  In normal women, one X-chromosomes in each pair is inactive and may be visualized as a ‘Barr Body’  A chromatic mass found in the chromosome is random  The inactivation of the X-chromosome is random
  • 52. Conti..  A women with X-linked, but unless majority of normal genes are inactivated the disease will not be manifest  In reproduction, if the abnormal gene is active and passed to the gamate, the male offspring will manifest the disorder, because the X-chromosome in each male cell is active  Female offspring may be carrier of the disorder. Half of the offspring will either be carriers or will manifest the disorder
  • 53. Manifestation of medalian disorder  Single gene defects account for a considerable number with genetic problems associated with medelian disorder  Careful history taking and appropriate genetic testing can identify fetuses affected with these disorders  Eg. OI (Osteogenesis Imperfecta), Marfan syndrome, Cystic fibrosis, Phenylketonuria(PKU), Sickle cell anemia, hemophilia A& B, Duchanne’s muscular Dystrophy, Fragile X syndrome
  • 54. III. Multifactorial defects  Many common birth defects are multifactorial  A genetic predisposition to a lower threshold for development abnormalities  Genetic combination may have a cumulative effect by adding factors, such as family history, chance of certain environmental factors  Eg. Exposure to toxic chemicals or radiation, use of recreational drugs
  • 55. Manifestations of Multifactorial Defects  Neural tube defects  Anencephaly  Myelomeningocele (Spina bifida)  Encephalocele  Facial deformities
  • 56. Procedures for early detection of fetal abnormalities Bio- physical & Bio- chemical Trimester wise Invasive & Non invasive
  • 57. bIochemical analysis  Maternal serum alpha fetoprotein (MSAFP)  AFP is an oncofetal protein, is produced by yolk sac and fetal liver  The highest level is reached around 13 week and then decreases  Maternal serum level reaches a peak around 32 weeks  MSAFP level elevated in following conditions  Wrong gestational age  Open neural tube defects  Multiple pregnancy  Rh isoimmunization  Anterior abdominal wall defects  Renal abnormalities  Low level of found in Trisomy (Down syndrome), Gestational Trophoblastic diseases.
  • 58. Conti…  Inhibin A  It is a dimeric glycoprotein. It produced by the corpus luteum and the placenta  The raised level indicate Down syndrome  others  HCG / UE3 /PAPP-A  HCG is produced by the syncytotrophoblast of the placenta secreted into the blood to both mother and fetus the blood and the urine values reaches maximum level from 100 to 200 IU/ml between 60 to 70 days of pregnancy  high level of HCG in the following conditions -multiple pregnancy /hydatidiform mole/choriocarcinoma/Down syndrome  the lower level in pregnancies under spontaneous abortion  PAPP-A is secreted as HCG.it as an immuno suppressants in pregnancy. low level is associated with increased risk of preeclampsia and IUGR
  • 59. Screening methods- 1st trimuster •USG ( NT) Bio physical •Free b-hcG •PAPP-A Bio chemical
  • 60. Conti…  Time to test : between 11-14 weeks  Values:  PAPP-A - Reduce  b hcG - Increased  NT - Increased In Trisomy  Advantages:  Once a women is screen positive, diagnostic tests should be done early. Targeted USGS during the second trimester and fetal ECHO are to be done when NT more than or equal to 3 mm
  • 61. Second trimester screening  It is done between 15 to 22 weeks  MSAFP:  This is done between 15 to 20 week values of 2.5 multiples of median with weight of the mother. Increased levels 85% defect neural tube defects. Lower level indicates stillbirths, miscarriages, neonatal deaths  Triple test:  combined test of MSAFP, HCG and UE3 Down syndrome  In an affected pregnancy MSAFP & UE3 low and HCG is high  It performed at 15 to 22 weeks  Quadruple test:  Combined test of MSAFP, UE3 ,dimeric inhibin-A and HCG  It detects 85% trisomy 21 where  HCG - increased  UE3 -reduced  Inhibin-A- elevator  MSAFP - reduced
  • 62. Invasive procedures  Chorionic villus sampling  Is performed transcervically between 10-13 weeks and transabdominally from 10 weeks to term. The following condition can be detected eg. Down syndrome, Turner syndrome, neural tube defects.  Amniocentesis  It performed after 15 weeks under USG guidance transabdominally. The fetal cells obtained in this and are subjected for cytogenetic analysis.  cardocentesis  percutaneous umbilical cord sampling. It may leads to abortion, preterm labor, IUD etc. Fetal anemia, bleeding disorders, RH diseases, hemoglobinopathies etc are to be obtained.
  • 63. Non invasive procedures  As fetal DNA and biophysical measures such as USG/ MRI are to be carried out throughout the pregnancy. example all congenital anomalies, chromosomal abnormalities, structural abnormalities
  • 64. summery so far we have see about the genetic counselling, their aims, etiology, risk factors, types, procedures, screening methods in various aspects of procedures
  • 65. conclusion Genetic counselling gives you informatics about how genetic conditions might affect the family and the baby. It helps to understanding genetic disorders in important in learning more about promoting health and preventing disease
  • 66.
  • 67. Journal application  Topic: Supporting patient autonomy and informed decision making in prenatal genetic testing  Authors: Katie Stoll & Judith Jackson  Conclusions: Genetic counsellors have played a crucial role in supporting patient to make informed and value consistent decisions in the prenatal genetic setting since prenatal screening and diagnosis were first possible. A complete set of tests such as of DNA and expanded carrier testing become more routine in obstetrical care, the percentage of patients who work directly with a genetic counselor to help them navigate through the decision making process will necessarily decrease.