This document provides information about diagnosing and screening for Down syndrome during pregnancy. It discusses the three main genetic causes of Down syndrome and describes diagnostic tests like amniocentesis and chorionic villus sampling that can provide a definitive diagnosis. It also covers various screening tests that estimate the risk of Down syndrome, including tests analyzing markers in the first and second trimesters. The accuracy of screening tests varies, with integrated tests using markers from both trimesters providing the best screening.
Oligohydramnios by dr alka mukherjee dr apurva mukherjee nagpur m.s.alka mukherjee
• Oligohydramnios refers to amniotic fluid volume that is less than expected for gestational age. It is typically diagnosed by ultrasound examination and may be described qualitatively (eg, reduced amniotic fluid volume) or quantitatively (eg, amniotic fluid index ≤5 cm, single deepest pocket <2 cm).
• Oligohydramnios may be idiopathic or have a maternal, fetal, or placental cause The fetal prognosis depends on several factors, including the underlying cause, the severity (reduced versus no amniotic fluid), and the gestational age at which oligohydramnios occurs. Because an adequate volume of amniotic fluid is critical to normal fetal movement and lung development and for cushioning the fetus and umbilical cord from uterine compression, pregnancies complicated by oligohydramnios from any cause are at risk for fetal deformation, pulmonary hypoplasia, and umbilical cord compression.
• Oligohydramnios is associated with an increased risk for fetal or neonatal death, which may be related to the underlying cause of the reduced amniotic fluid volume or due to sequelae of the reduced amniotic fluid volume.
• This topic will discuss issues related to oligohydramnios. Methods of amniotic fluid volume assessment are reviewed separately.
• Oligohydramnios occurs when the amniotic fluid is < 5th centile for gestational age.
• The most common causes are premature rupture of membranes (often missed by the mother) and placental insufficiency, however structural abnormalities such as renal agenesis should be considered.
• Prognosis is linked to gestation at diagnosis and likely development of pulmonary hypoplasia and premature delivery.
• Treatment is by optimising gestation of delivery
Oligohydramnios by dr alka mukherjee dr apurva mukherjee nagpur m.s.alka mukherjee
• Oligohydramnios refers to amniotic fluid volume that is less than expected for gestational age. It is typically diagnosed by ultrasound examination and may be described qualitatively (eg, reduced amniotic fluid volume) or quantitatively (eg, amniotic fluid index ≤5 cm, single deepest pocket <2 cm).
• Oligohydramnios may be idiopathic or have a maternal, fetal, or placental cause The fetal prognosis depends on several factors, including the underlying cause, the severity (reduced versus no amniotic fluid), and the gestational age at which oligohydramnios occurs. Because an adequate volume of amniotic fluid is critical to normal fetal movement and lung development and for cushioning the fetus and umbilical cord from uterine compression, pregnancies complicated by oligohydramnios from any cause are at risk for fetal deformation, pulmonary hypoplasia, and umbilical cord compression.
• Oligohydramnios is associated with an increased risk for fetal or neonatal death, which may be related to the underlying cause of the reduced amniotic fluid volume or due to sequelae of the reduced amniotic fluid volume.
• This topic will discuss issues related to oligohydramnios. Methods of amniotic fluid volume assessment are reviewed separately.
• Oligohydramnios occurs when the amniotic fluid is < 5th centile for gestational age.
• The most common causes are premature rupture of membranes (often missed by the mother) and placental insufficiency, however structural abnormalities such as renal agenesis should be considered.
• Prognosis is linked to gestation at diagnosis and likely development of pulmonary hypoplasia and premature delivery.
• Treatment is by optimising gestation of delivery
Many complications can occur during pregnancy and affect health of mother and fetus as well as outcomes. Hemorrhage is the first ten causes of maternal mortality and morbidity, affect about 32% of all maternal deaths. Abortion represents 4.5% of all maternal death. Many women do not understand the bleeding is abnormal and dangerous signs and they come late to health care facilities.
Pregnancies can be designated as high risk for any of several undesirable outcomes. In the past, risk factors were evaluated only from a medical standpoint. Therefore only adverse medical, obstetric,or physiologic conditions were considered to place the woman at risk. Today a more comprehensive approach to high-risk pregnancy is used, and the factors associated with high risk childbearing are grouped into broad categories based on threats to health and pregnancy outcome.
SCREENING
Screening is a process of identifying apparently healthy people who may be at increased risk of a disease or condition. They can then be offered information, further tests and appropriate treatment to reduce their risk and/or any complications arising from the disease or condition.
ASSESSMENT
Assessment is a process for defining the nature of that problem, determining a diagnosis, and developing specific treatment recommendations.
FETAL ULTRASOUND OR ULTRASONIC TESTING
Fetal ultrasound is a test done during pregnancy that uses reflected sound waves to produce a picture of a fetus camera.gif, the organ that nourishes the fetus (placenta), and the liquid that surrounds the fetus (amniotic fluid). The picture is displayed on a TV screen and may be in black and white or in color. The pictures are also called a sonogram, echogram, or scan, and they may be saved as part of your baby's record.
Definition of Prenatal diagnosis
Importance of prenatal diagnosis
Risks factors associated with prenatal diagnostic techniques
Antenatal screening tests
Types of prenatal diagnostic tests
Complications associated with diagnostic tests
Invasive and non invasive techniques
Women carrying multiple gestations may be initially asymptomatic or may have normal signs and symptoms of pregnancy (eg, breast tenderness, fatigue, nausea, vomiting). Multiple gestations may be suspected in the setting of hyperemesis gravidarum or in a patient who has undergone assisted reproductive technology.
A multifetal pregnancy is a pregnancy in which there are two or more fetuses in the uterus at the same time. This can include twin pregnancies, triplet pregnancies, and higher-order multiple pregnancies.
The most common type of multifetal pregnancy is twin pregnancy, which can be either fraternal (dizygotic) twins, which are formed from two separate eggs fertilized by two separate sperm, or identical (monozygotic) twins, which are formed when a single fertilized egg splits and develops into two separate embryos.
Risk factors for multifetal pregnancy include:
Advanced maternal age
Assisted reproductive technologies (ART) such as in vitro fertilization (IVF)
A family history of twin pregnancies
Use of ovulation-inducing drugs
The management of multifetal pregnancies can be challenging and requires close monitoring and specialized care. It can include ultrasound monitoring to assess the growth and well-being of each fetus, and to detect any potential complications such as twin-to-twin transfusion syndrome (TTTS) or selective intrauterine growth restriction (sIUGR).
Due to the increased risk of complications, multifetal pregnancies are at a higher risk of preterm labor, cesarean delivery, and perinatal morbidity and mortality.
It's important to note that multifetal pregnancies should be managed by a team of specialists such as obstetricians, perinatologists, and pediatricians with experience in the care of multifetal pregnancies.
Many complications can occur during pregnancy and affect health of mother and fetus as well as outcomes. Hemorrhage is the first ten causes of maternal mortality and morbidity, affect about 32% of all maternal deaths. Abortion represents 4.5% of all maternal death. Many women do not understand the bleeding is abnormal and dangerous signs and they come late to health care facilities.
Pregnancies can be designated as high risk for any of several undesirable outcomes. In the past, risk factors were evaluated only from a medical standpoint. Therefore only adverse medical, obstetric,or physiologic conditions were considered to place the woman at risk. Today a more comprehensive approach to high-risk pregnancy is used, and the factors associated with high risk childbearing are grouped into broad categories based on threats to health and pregnancy outcome.
SCREENING
Screening is a process of identifying apparently healthy people who may be at increased risk of a disease or condition. They can then be offered information, further tests and appropriate treatment to reduce their risk and/or any complications arising from the disease or condition.
ASSESSMENT
Assessment is a process for defining the nature of that problem, determining a diagnosis, and developing specific treatment recommendations.
FETAL ULTRASOUND OR ULTRASONIC TESTING
Fetal ultrasound is a test done during pregnancy that uses reflected sound waves to produce a picture of a fetus camera.gif, the organ that nourishes the fetus (placenta), and the liquid that surrounds the fetus (amniotic fluid). The picture is displayed on a TV screen and may be in black and white or in color. The pictures are also called a sonogram, echogram, or scan, and they may be saved as part of your baby's record.
Definition of Prenatal diagnosis
Importance of prenatal diagnosis
Risks factors associated with prenatal diagnostic techniques
Antenatal screening tests
Types of prenatal diagnostic tests
Complications associated with diagnostic tests
Invasive and non invasive techniques
Women carrying multiple gestations may be initially asymptomatic or may have normal signs and symptoms of pregnancy (eg, breast tenderness, fatigue, nausea, vomiting). Multiple gestations may be suspected in the setting of hyperemesis gravidarum or in a patient who has undergone assisted reproductive technology.
A multifetal pregnancy is a pregnancy in which there are two or more fetuses in the uterus at the same time. This can include twin pregnancies, triplet pregnancies, and higher-order multiple pregnancies.
The most common type of multifetal pregnancy is twin pregnancy, which can be either fraternal (dizygotic) twins, which are formed from two separate eggs fertilized by two separate sperm, or identical (monozygotic) twins, which are formed when a single fertilized egg splits and develops into two separate embryos.
Risk factors for multifetal pregnancy include:
Advanced maternal age
Assisted reproductive technologies (ART) such as in vitro fertilization (IVF)
A family history of twin pregnancies
Use of ovulation-inducing drugs
The management of multifetal pregnancies can be challenging and requires close monitoring and specialized care. It can include ultrasound monitoring to assess the growth and well-being of each fetus, and to detect any potential complications such as twin-to-twin transfusion syndrome (TTTS) or selective intrauterine growth restriction (sIUGR).
Due to the increased risk of complications, multifetal pregnancies are at a higher risk of preterm labor, cesarean delivery, and perinatal morbidity and mortality.
It's important to note that multifetal pregnancies should be managed by a team of specialists such as obstetricians, perinatologists, and pediatricians with experience in the care of multifetal pregnancies.
Similar to Down's Syndrome Screening in Pregnancy.pptx (20)
These simplified slides by Dr. Sidra Arshad present an overview of the non-respiratory functions of the respiratory tract.
Learning objectives:
1. Enlist the non-respiratory functions of the respiratory tract
2. Briefly explain how these functions are carried out
3. Discuss the significance of dead space
4. Differentiate between minute ventilation and alveolar ventilation
5. Describe the cough and sneeze reflexes
Study Resources:
1. Chapter 39, Guyton and Hall Textbook of Medical Physiology, 14th edition
2. Chapter 34, Ganong’s Review of Medical Physiology, 26th edition
3. Chapter 17, Human Physiology by Lauralee Sherwood, 9th edition
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- Video recording of this lecture in English language: https://youtu.be/lK81BzxMqdo
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The prostate is an exocrine gland of the male mammalian reproductive system
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Couples presenting to the infertility clinic- Do they really have infertility...Sujoy Dasgupta
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June 20, 2024, Prix Galien International and Jerusalem Ethics Forum in ROME. Detailed agenda including panels:
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Title: Sense of Smell
Presenter: Dr. Faiza, Assistant Professor of Physiology
Qualifications:
MBBS (Best Graduate, AIMC Lahore)
FCPS Physiology
ICMT, CHPE, DHPE (STMU)
MPH (GC University, Faisalabad)
MBA (Virtual University of Pakistan)
Learning Objectives:
Describe the primary categories of smells and the concept of odor blindness.
Explain the structure and location of the olfactory membrane and mucosa, including the types and roles of cells involved in olfaction.
Describe the pathway and mechanisms of olfactory signal transmission from the olfactory receptors to the brain.
Illustrate the biochemical cascade triggered by odorant binding to olfactory receptors, including the role of G-proteins and second messengers in generating an action potential.
Identify different types of olfactory disorders such as anosmia, hyposmia, hyperosmia, and dysosmia, including their potential causes.
Key Topics:
Olfactory Genes:
3% of the human genome accounts for olfactory genes.
400 genes for odorant receptors.
Olfactory Membrane:
Located in the superior part of the nasal cavity.
Medially: Folds downward along the superior septum.
Laterally: Folds over the superior turbinate and upper surface of the middle turbinate.
Total surface area: 5-10 square centimeters.
Olfactory Mucosa:
Olfactory Cells: Bipolar nerve cells derived from the CNS (100 million), with 4-25 olfactory cilia per cell.
Sustentacular Cells: Produce mucus and maintain ionic and molecular environment.
Basal Cells: Replace worn-out olfactory cells with an average lifespan of 1-2 months.
Bowman’s Gland: Secretes mucus.
Stimulation of Olfactory Cells:
Odorant dissolves in mucus and attaches to receptors on olfactory cilia.
Involves a cascade effect through G-proteins and second messengers, leading to depolarization and action potential generation in the olfactory nerve.
Quality of a Good Odorant:
Small (3-20 Carbon atoms), volatile, water-soluble, and lipid-soluble.
Facilitated by odorant-binding proteins in mucus.
Membrane Potential and Action Potential:
Resting membrane potential: -55mV.
Action potential frequency in the olfactory nerve increases with odorant strength.
Adaptation Towards the Sense of Smell:
Rapid adaptation within the first second, with further slow adaptation.
Psychological adaptation greater than receptor adaptation, involving feedback inhibition from the central nervous system.
Primary Sensations of Smell:
Camphoraceous, Musky, Floral, Pepperminty, Ethereal, Pungent, Putrid.
Odor Detection Threshold:
Examples: Hydrogen sulfide (0.0005 ppm), Methyl-mercaptan (0.002 ppm).
Some toxic substances are odorless at lethal concentrations.
Characteristics of Smell:
Odor blindness for single substances due to lack of appropriate receptor protein.
Behavioral and emotional influences of smell.
Transmission of Olfactory Signals:
From olfactory cells to glomeruli in the olfactory bulb, involving lateral inhibition.
Primitive, less old, and new olfactory systems with different path
Explore natural remedies for syphilis treatment in Singapore. Discover alternative therapies, herbal remedies, and lifestyle changes that may complement conventional treatments. Learn about holistic approaches to managing syphilis symptoms and supporting overall health.
Flu Vaccine Alert in Bangalore Karnatakaaddon Scans
As flu season approaches, health officials in Bangalore, Karnataka, are urging residents to get their flu vaccinations. The seasonal flu, while common, can lead to severe health complications, particularly for vulnerable populations such as young children, the elderly, and those with underlying health conditions.
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2. Down syndrome
• Down syndrome can be caused by
one of three types of abnormal cell
division involving chromosome 21.
• The three genetic variations include:
1-Trisomy 21- More than 90 % of Down
syndrome cases are caused by
trisomy 21.
2
6. Down syndrome
• An extra chromosome (chromosome 21)
originates in the development of either
the sperm or the egg.
• When the egg and the sperm unite to
form the fertilized egg, three (rather
than two) chromosomes 21 are present.
• As the cells divide the extra
chromosome is repeated in every cell. 6
7. Down syndrome
2-Mosaic Trisomy 21 – This is a rare form
(less than 2% of cases) of Down
syndrome. While similar to simple
trisomy 21, the difference is that the
extra chromosome 21 is present in
some, but not all cells, of the
individual.
This type of Down syndrome is caused by
abnormal cell division after fertilization.
7
8. Down syndrome
• The name comes from a random order
of normal and abnormal cells (a mosaic).
• In cellular mosaicism, the mixture can
be seen in different cells of the same
type;
• while with tissue mosaicism, one set of
cells may have normal chromosomes
and another type may have trisomy 21.
8
9. Down syndrome
3-Translocation Trisomy 21-
Sometimes (in 3-4% of cases)
part of chromosome 21 becomes
attached (translocated) to
another chromosome (usually
the 13th, 14th or 15th
chromosome) before or at
conception. 9
10. Down syndrome
• The carrier (the one having the
translocated chromosome) will
have 45 chromosomes instead
of 46 but they will have all the
genetic material of a person
with 46 chromosomes
10
11. Down syndrome
• This is because the extra chromosome 21
material is located on a different
chromosome (the translocated one).
• A carrier will have the extra material but
will have only one chromosome 21.
• The carrier will not exhibit any of the
symptoms of Down syndrome because
they have the correct amount of genetic
material.
11
12. Diagnosing Down Syndrome
• Since many expectant parents
choose to forgo prenatal tests,
most cases of Down syndrome are
diagnosed after the baby is born.
• Doctors will usually suspect Down
syndrome if certain physical
characteristics are present.
12
13. Diagnosing Down Syndrome
• Some of the Traits Common To Babies with Down
Syndrome Include
• Low muscle tone
• A flat facial profile
• A small nose
• An upward slant to the eyes
• A single deep crease across the center of the palm
• An excessive ability to extend the joints
• Small skin folds on the inner corner of the eyes
• Excessive space between large and second toe 13
15. Diagnosing Down Syndrome
• Not all babies with Down syndrome
have all these characteristics, and
many of these features can be found,
to some extent, in individuals who do
not have the condition.
• Therefore, doctors must perform a
special test called a karyotype before
making a definitive diagnosis.
15
16. Diagnosing Down Syndrome
• To obtain a karyotype, doctors draw a
blood sample to examine your baby's
cells.
• They use special tools to photograph the
chromosomes and then group them by
size, number and shape.
• By examining the karyotype, they can
determine accurately whether or not
your baby has Down syndrome 16
17. TWO TYPES OF TEST FOR
DOWN'S SYNDROME
• Two types of procedures are
available to pregnant women:
• Screening tests and diagnostic tests
• Screening tests estimate the risk of
the baby having Down syndrome.
• Diagnostic tests tell whether or not
the baby actually has Down
syndrome 17
18. TWO TYPES OF TEST FOR
DOWN'S SYNDROME
Screening tests estimate the chances
of your baby having Down's
syndrome.
These tests are offered to pregnant
women regardless of age..
It is possible to have the tests carried
out privately, at a cost.
18
19. TWO TYPES OF TEST FOR
DOWN'S SYNDROME
• Diagnostic tests, such as CVS and
amniocentesis, give you a definite result.
• These may be offered if your screening
test shows you have a high risk of having
a baby with a chromosomal condition.
• Diagnostic tests do unfortunately carry a
slight risk of miscarriage, which is why
screening tests are used first.
19
20. Diagnostic Tests
• Three diagnostic tests are currently
available:
• Amniocentesis is performed between 12
and 20 weeks gestation.
• Chorionic Villus Sampling (CVS) is
conducted between 8 and 12 weeks.
• Percutaneous Umbilical Blood Sampling
(PUBS) is performed after 20 weeks.
20
21. DIAGNOSTIC TESTS
• These tests are “invasive” and require
sampling either the amniotic fluid or the
placenta with a needle.
• Although the risk is small, approximately 1 in
200 babies will be lost as a result of genetic
amniocentesis and 1 in 100 will be lost as a
result of CVS.
• Also, neither test can test for the majority of
birth defects associated with normal
chromosomes. 21
22. Amniocentesis
• This procedure is used to collect amniotic
fluid, the liquid that is in the womb. It's
performed in the doctor's office or in the
hospital on an "out-patient" basis.
• A needle is inserted through the
mother's abdominal wall into the
uterus, using ultrasound to guide the
needle.
22
23. Amniocentesis
• Approximately one ounce of fluid is
taken for testing.
• This fluid contains fetal cells that can
be examined for chromosome tests.
• It takes about 2 weeks to determine
if the fetus has Down syndrome or
not 23
26. Amniocentesis
• Amniocentesis is usually carried out
between the 14th and 18th week of
pregnancy; some doctors may do
them as early as the 13th week.
• Side effects to the mother include
cramping, bleeding, infection and
leaking of amniotic fluid afterwards.
26
27. Amniocentesis
• There is a slight increase in the risk of
miscarriage: the normal rate of
miscarriage at this time of pregnancy is 2
to 3%, and amniocentesis increases that
risk by an additional 1/2 to 1%.
• Amniocentesis is not recommended
before the 14th week of pregnancy due
to a higher risk of complications and loss
of pregnancy. 27
28. Which mothers should have an
amniocentesis?
• The current recommendations by
professional obstetric groups is
that women with a risk of having
a child with Down syndrome of 1
in 250 or greater should be
offered amniocentesis.
28
29. Chorionic Villus Sampling (CVS)
• In this procedure, instead of amniotic fluid
being taken, a small amount of tissue is
taken from the young placenta (also called
the chorionic layer).
• These cells contain the fetal chromosomes
that can be tested for Down syndrome.
• The cells can be collected the same way as
the amniocentesis, but another method is to
insert a tube into the uterus through the
vagina.
29
31. Chorionic Villus Sampling (CVS)
• The method depends on the mother's
anatomy.
• CVS is usually carried out between the 10th
and 12th weeks of pregnancy.
• Side effects to the mother are the same as
with amniocentesis (above).
• The risk of miscarriage after CVS is slightly
higher than with amniocentesis, increasing
the normal risk of miscarriage to 3 to 5%. 31
32. Procedure-related Risks
Amniocentesis
Pregnancy loss
1:300-1:500
Spotting or leakage
1-2%
Needle injury - rare
Infection - rare
CVS
Pregnancy loss -
similar to
amniocentesis
Spotting - up to 32%
Leakage or infection
- less than 0.5%
32
33. PERCUTANEOUS UMBILICAL CORD BLOOD SAMPLING
• (PUBS), also called cordocentesis, is a
diagnostic genetic test that examines
blood from the fetal umbilical cord to
detect fetal abnormalities.
• PUBS provides a means of rapid
chromosome analysis and is useful when
information cannot be obtained through
amniocentesis, CVS, or ultrasound
33
34. PERCUTANEOUS UMBILICAL CORD BLOOD SAMPLING
• This test carries a significant risk of
complication and is typically reserved
for pregnancies determined to be at
high risk for genetic defect.
• PUBS is similar to amniocentesis, but
instead of sampling the amniotic fluid
which surrounds the fetus, PUBS
examines fetal blood. 34
35. PERCUTANEOUS UMBILICAL CORD BLOOD SAMPLING
• An advanced imaging ultrasound
determines the location for needle
insertion into the placenta, and the
needle is guided through the
mother's abdomen and uterine wall
into the fetal vein of the umbilical
cord, where a fetal blood sample is
removed. 35
36. PERCUTANEOUS UMBILICAL CORD BLOOD SAMPLING
• The sample can then be sent for
chromosomal analysis.
• The entire process lasts 45 minutes
to an hour.
• Because the fetal vein is fragile early
in pregnancy, PUBS is performed no
earlier than 17 weeks into
pregnancy. 36
38. Screening tests for Down’s syndrome
• Screening tests won't be able to tell
you for certain that your baby is or
isn't affected by Down's syndrome.
• Screening tests can help you to
decide whether or not to have a
diagnostic test, which will tell you
with greater certainty.
38
39. Down syndrome and trisomy 18 risk
assessments
• Prenatal screening is routinely offered for Down
syndrome and NTDs and is accompanied by a risk
assessment for trisomy 18.
• Screening for NTDs is based on alpha-
fetoprotein (AFP) alone whereas Down
syndrome and trisomy 18 risk assessments
are based on multiple marker combinations
that include maternal age and 2 or more of
the following:
39
40. Down syndrome and trisomy 18 risk
assessments
• pregnancy-associated plasma protein A
(PAPP-A),
• nuchal translucency (NT),
• AFP,
• human chorionic gonadotropin (hCG),
• unconjugated estriol (uE3), and
• dimeric inhibin A (DIA). 40
42. PREGNANCY ASSOCIATED PLASMA
PROTEIN A
• Glycoprotein of unknown function
• Only reliable for detection of DS
between 10-13 weeks
• Levels are 60% lower in DS
• Highest detection rate of any
marker (42%)
42
43. Inhibin A test
• The inhibin A test is done to measure the
amount of this hormone in a pregnant
woman's blood to see if the baby may
have Down syndrome.
• Inhibin A is made by the placenta during
pregnancy.
• The level of inhibin A in the blood is used
in a maternal serum quadruple screening
test. 43
44. What is Inhibin A?
• alpha-beta subunit glycoprotein hormone
• inhibits the secretion of FSH from the anterior pituitary
• synthesized in ovary and placenta (Inhibin B is synthesized in
ovary and testis)
• molecular weight approx. 32,000 daltons
• inhibin-A = alpha subunit + betaA subunit
Pro-a subunit
bA subunit
bB subunit
Inhibin A
Inhibin B
44
45. Screening tests for Down’s syndrome
• Our Antenatal Screening Service
provides five screening tests for Down’s
syndrome. These are the
• Integrated test,
• the Serum Integrated test,
• the Combined test,
• the Quadruple test, and the
• Quadruple plus NT test. 45
47. Full integrated test
• — The full integrated test
consists of NT and PAPP-A
measured at 10 to 13 weeks
followed by measurement of
AFP, uE3, hCG, and inhA at
15 to 18 weeks 47
48. Serum integrated test
•Clinical Use
•Prenatal screening for Down
syndrome and open neural
tube defects (NTDs)
•Identify pregnancies at high
risk for trisomy 18 48
49. Serum Integrated Screen
• The Serum Integrated Screen is the same
as the Integrated Screen, except NT
measurement is not used.
• Though the Serum Integrated Screen has
a lower detection rate than the
Integrated Screen, it is the test of choice
when an accurate NT measurement is
not available. 49
50. Serum integrated test
•The serum integrated test
combines a blood test for:
•PAPP-A and hCG before 14
weeks of pregnancy
•AFP, uE3 and inhibin A (INH)at
15 weeks to 20 weeks 50
51. The Serum Integrated test
• The serum integrated test is an option
for women who are unable to have a
nuchal translucency measurement
performed.
• The test is performed in two stages.
• The first stage is ideally carried out at 11
weeks of pregnancy (but any time
between 10 and 13 weeks is acceptable),
when a blood sample is obtained.
51
52. The Serum Integrated test
• The second stage involves a second
blood sample which is ideally taken at
15 or 16 weeks, but between 14 and
22 weeks is possible.
• The Serum Integrated test includes
screening for open neural tube
defects (spina bifida and
anencephaly). 52
53. The Combined test
• The Combined test only uses first trimester
markers, and is performed at around 11
weeks of pregnancy (but any time between
10 and 13 weeks is acceptable) when a blood
sample is obtained and an ultrasound
examination is carried out.
• The Combined test is not as effective as the
integrated test, but is suitable for women
who are prepared to accept a less effective
test in order to have an earlier result. 53
54. The Quadruple test
• The Quadruple test only uses second
trimester markers, and is performed at
around 15 or 16 weeks of pregnancy (but
between 14 and 22 weeks is possible)
when a blood sample is obtained.
• The test is suitable for women who
book after 13 weeks of pregnancy and
are too late for the Integrated test. 54
55. The Quadruple plus NT test
• The Quadruple plus NT test is an option for
women who have had a nuchal translucency
(NT) performed but wish to utilise the second
trimester serum markers to improve
screening performance.
• The NT measurement is incorporated into
the Quadruple test interpretation.
• The Quadruple plus NT test includes screening
for open neural tube defects (spina bifida
and anencephaly). 55
56. Five maternal serum analytes units
• For the five maternal serum analytes used in
Down syndrome screening, the units most
commonly used in the United States are:
• AFP — either ng/mL or IU/mL
• uE3 — ng/mL
• beta-hCG — mIU/mL or IU/mL
(tripple screen test)
• inhA — pg/mL
• PAPP-A — ng/mL or mIU/mL 56
58. Similarity of
hCG and inhA
distributions in
Down syndrome and
unaffected pregnancy
58
59. Sequential Screening for DS
Offer 1st trimester screen
(NT, PAPP-A, hCG)
DS risk >1 in 50
Offer counseling & CVS
DS risk <1 in 50
2nd trimester screen with
Integrated Result
(NT, PAPP-A,AFP, hCG, uE3,
Inhibin)
DS risk >1 in 270
Offer counseling & amnio
Uses both 1st and 2nd
trimester results to adjust
maternal age risk for DS
and takes advantage of
higher detection rate 59
60. Contingent testing
Contingent screening is defined in terms of three risk
cut-offs:
• (1) women at very high risk of having a fetus with
Down syndrome after first trimester combined
testing are offered immediate invasive prenatal
diagnosis,
• (2) women at very low risk are provided with their
risk estimate and require no additional testing, and
• (3) women at intermediate risk have second
trimester markers tested (AFP, uE3, hCG, and inhA)
to get an integrated result.
60
62. NON-INVASIVE PRENATAL TESTING
(NIPT)
• NIPT, which analyzes cell-free
fetal DNA circulating in maternal
blood, is a new option in the
prenatal screening and testing
paradigm for trisomy 21 and a
few other fetal chromosomal
aneuploidies.
62
63. NON-INVASIVE PRENATAL TESTING
(NIPT)
• Quantitative differences in
chromosome fragments in
maternal blood can be used to
distinguish fetuses affected with
trisomy 21, and a few other fetal
aneuplodies, from those that are
not affected. 63
64. Non-Invasive Prenatal Testing
(NIPT)
• Testing can be done any time after 10 weeks;
typically it is done between 10-22 weeks.
Results can take a week or more.
• At least 99% of all pregnancies with trisomy
21 can be detected using this test.
• However, up to 1 in 100 pregnancies with
trisomy 21 will have a normal result and be
missed on screening.
64
65. NON-INVASIVE PRENATAL TESTING
(NIPT)
• The testing is non-invasive,
involving a maternal blood draw,
so the pregnancy is not put at risk
for miscarriage or other adverse
outcomes associated with invasive
testing procedures.
65
66. Non-Invasive Prenatal Testing (NIPT)
• The two most promising methods are
• NIPD using next generation
sequencing technologies and
• NIPD using Methylation DNA
Immunoprecipitation (MeDIP)
with real time qPCR.
66
67. Diagnosis after birth
• Once your baby is born, the initial
diagnosis of Down syndrome is
usually based on your baby’s physical
appearance.
• If your doctor needs to definitively
diagnose Down syndrome, they will
arrange for a blood test known as a
chromosomal karyotype. 67
68. Diagnosis after birth
• A sample of your baby’s blood will be
taken and sent to a laboratory so that the
chromosomes in the blood can be
analysed.
• If the blood test finds that there
is an extra chromosome 21, your
baby will be diagnosed with
Down syndrome. 68
69. THE AGA KHAN UNIVERSITY HOSPITAL
CLINICL LABORATORY
Stadium Road P.O. Box 3500, Karachi 74000, Pakistan
Tel # (92) (21) 493001 Extension # 1918/1931
DOWN’S SYNDROME & NEURAL TUBE DEFECT SCREENING
LAST NAME _________________________ FIRST NAME______________________
MR # / L# ___________________________ SAMPLE ID_______________________
PHYSICIAN_______________________________________________________________
DATE OF BIRTH (d/m/y) ________________ PHONE # _________________________
ETHNIC ORIGIN ______________________
CLINICAL DETAILS
MATERNAL WEIGHT (KGS) __________________
DIABETIC ____________________
IVF PREGNANCY__________________
PREVIOUS PREGNANCIES WITH DOWNS’s ____________________________________________
(Mention NONE or ONE or TWO or More Than TWO)
PREVIOUS PREGNANCIES WITH NTD’S ____________________________________________
(Mention NONE or ONE or TWO or More Than TWO)
ULTRASOUND SCAN
NUMBER OF FETUS _____________________________________________________________________
SCAN PERFORMED ON __________________________________________________________________
GESTATIONAL WEEKS (BY SCAN) ______________________ (+DAYS) _____________________________
DATE OF BLOOD SAMPLE TAKEN __________________________________________________________
RESIDENT NAME _____________________________
69