[OBSTETRICS A] PRENATAL DIAGNOSIS, FETAL THERAPY AND ULTRASONOGRAPHY

PRENATAL DIAGNOSIS, FETAL THERAPY, AND  Example: Damage from an amnionic band causing a
ULTRASONOGRAPHY cephalocele or limb-reduction abnormality
Dr. Marinas
MULTIPLE STRUCTURAL OR DEVELOPMENTAL
PRENATAL DIAGNOSIS ABNORMALITIES
DEFINITION  SYNDROME
 The science of identifying structural or functional  A cluster of several anomalies or defects that have the
abnormalities in the developing fetus same cause

 Abnormalities may be in the form of malformations,  Mostly genetic

disruptions, chromosomal abnormalities, and other
genetic syndromes.
 The incidence of major abnormalities apparent at
birth is 2 to 3 %. These anomalies cause a significant
portion of neonatal deaths.
 It encompasses routine screening tests for aneuploidy
and neural-tube defects, invasive diagnostic tests
such as chorionic villus sampling and amniocentesis,
additional screening and diagnostic tests offered to
those at risk for specific genetic disorders, and the
diagnosis of structural malformations with specialized
sonography and other fetal imaging techniques.
 Example: Trisomy 18
 Most common: Trisomy 21 (Down Syndrome)
 SEQUENCE
 Anomalies that all develop sequentially as result of one
initial insult
 Example: Oligohydramnios leading to pulmonary
hypoplasia, limb contractures, and facial deformities
 ASSOCIATION
 Particular anomalies occur together frequently but do not
seem to be linked etiologically

 GOAL: Provide counseling and optimize outcome  Cannot be linked but occur at the same time
 Apply fetal therapy
 Example: VACTERL association  Includes three or more
3 CATEGORIES OF DIAGNOSTIC EVALUATION of the following:
1. Fetuses at high risk for a genetic or congenital disorder - Vertebral Defects
2. Fetuses at unknown risk for common congenital - Anal Atresia
abnormalities - Cardiac Defects
3. Fetuses discovered ultrasonographically to have structural - Tracheoesophageal Fistula
or developmental abnormalities - Renal anomalies
- Limb abnormalities
ETIOLOGY OF BIRTH DEFECTS
1. MALFORMATION  Because of overlap of anomaly patterns, it is readily
 An intrinsic abnormality "programmed" in development, apparent that classification of fetal malformations is
regardless of whether a precise genetic etiology is known challenging, and reclassification is required periodically.
 Example: Spina Bifida, Omphalocele
2. DEFORMATION
 When a genetically normal fetus develops abnormally PRENATAL DIAGNOSIS OF NEURAL-TUBE DEFECTS
because of mechanical forces imposed by the uterine NEURAL TUBE DEFECTS (NTD’S)
environment  The second most common class of birth defect

 When the fetus develop  No abnormality yet   Most common: Cardiac Anomalies
+ Mechanical forces or uterine environment   NTDs  Occurs in 0.9 per 1000 births
Develop abnormalities
 Open Neural-tube
 Example: Normal limb that develops contractures because Defects include:
of prolonged oligohydramnios  Anencephaly
3. DISRUPTION  Spina bifida
 A more severe change in form or function  Cephalocele
 Occurs when genetically normal tissue is modified as the  Other rare spinal
result of a specific insult fusion (schisis)
abnormalities
 Almost similar with deformation but this one has a  95% occur without
specific insult risk factor or family history

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RISK FACTORS for NTD’s
1. Family history of NTDs
2. Exposure to certain environmental agents
 Environmental Exposure:
 Hyperthermia
 Medications that disturb folic acid metabolism
 Hyperglycemia from IDDM
3. History of a genetic syndrome or anatomical anomalies
associated with NTDs
4. Belonging to a high-risk racial or ethnic group, living in a
high-risk geographical region, or both
5. Production of anti-folate receptor antibodies
 Example: Anti-convulsants
 Many women at increased risk for NTD benefit from
taking 4mg of FA daily before conception and through
the first trimester.
ALPHA-FETOPROTEIN (AFP)
 SOURCE:
 Fetal Yolk Sac
 Fetal GIT and Liver
 Alpha-fetoprotein (AFP) is a glycoprotein synthesized
by the fetal yolk sac and later by the fetal
gastrointestinal tract and liver.
 It is the major serum protein in the embryo and fetus
and is thus analogous to albumin in adults.
 Normally circulates in fetal serum and passes into fetal urine
and thus into amnionic fluid
 FETAL SERUM & AMNIOTIC FLUID:
 Concentration increases steadily until 13 weeks, after
which these levels rapidly decrease
 Passes into the maternal circulation by diffusion
 MATERNAL SERUM:
 Increasing quantities after 12 weeks
 What we measure is the MATERNAL SERUM and not
the fetal serum.
 Why do we measure AFP?
 This is what we screen for neural tube defects
MATERNAL SERUM AFP SCREENING
 The American College of Obstetricians and Gynecologists
(2003) recommends that ALL PREGNANT WOMEN BE
OFFERED SECOND-TRIMESTER MATERNAL SERUM AFP
SCREENING
 15 - 20 weeks
 Normal Value:  2-2.5 MoM
 Unit of measurement: MoM  Multiple of Median
 Measured in nanograms/milliter and reported as a
multiple of the median of the unaffected population.
Converting the results to MoM normalizes the
distribution of AFP levels and permits comparison of
results from different laboratories and different
populations.
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 Abnormal Screening Test  Genetic Counseling ALGORITHM FOR EVALUATING MATERNAL SERUM AFP
 Consideration for a Diagnostic test

 All women can be offered screening tests even without

risk factors.

 Detection Rate: 80 – 90%

 Positive Predictive Value: 2 – 6%

 Detection rate of at least 90% for anencephaly and 80%

for spina bifida.
 The positive predictive value (those with AFP elevations
who truly have the disease) is only 2 to 6%. Therefore,
an abnormal screening test should be followed by
counseling and consideration for a diagnostic test.
 The reason why the detection rate is not higher is that
there is considerable overlap in AFP distribution in
affected and unaffected pregnancies.

 FACTORS THAT INFLUENCE THE MATERNAL SERUM AFP
LEVEL:
 Several factors influence the maternal serum AFP
level and are taken into consideration when
calculating the AFP MoM.
 We have to consider these factors because they
could affect the result of the maternal serum AFP
level.
 Maternal Weight  Reflects the volume of distribution
 Gestational Age  Increases by 15% per week in the 2nd
trimester
 We have to know the exact gestational age of the
patient
 Maternal serum AFP determined at 15-20 weeks
 AFP value adjusted for maternal age, weight, ethnicity,
gestational age, and insulin dependent diabetes
 AFP value < 2 MoM Normal Screening Result
 AFP value  2 MoM  Recommend Genetic
Counselling
- If not already done, standard sonographic
evaluation is performed to verify gestational age
and to exclude twins or fetal demise, with
recalculation of AFP MoM as needed
 If the test result is < 2.5 MoM  Normal
Screening Result
 If the test result is  2 MoM  Abnormal result
 Patient is counseled, offered specialized
sonography, and consideration for amniocentesis

 Race or Ethnicity  African-American are 10% higher
 Diabetes  Serum AFP levels are 20% lower
 Multifetal Gestation
 If you have multifetal gestation, you have to have
a higher screening threshold  Normal value of 
2-2.5 MoM is not applicable
 If you have 2 babies, you should multiply it by 2.
But other laboratories will use 4.0 or 5.0 MoM
PPT Notes: If the AF AFP level is also elevated, an assay
for acetylcholinesterase was performed and if positive it
was considered diagnostic for NTD. Other conditions
associated with elevated acetylcholinestarase include
ventral wall defects, esophageal atresia, fetal teratoma,
cloacal exstrophy and epidermolysis bullosa. Although
it was once considered the gold standard, it has largely
been replaced by ultrasound.

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SOME CONDITIONS ASSOCIATED WITH ELEVATED AND LOW  RISK FACTORS include:
MATERNAL SERUM AFP CONCENTRATIONS  A personal history of NTD
 A first-degree relative with NTD
 Insulin-dependent diabetes
 First-trimester exposure to medication associated with
increased NTD risk

EVALUATION OF MATERNAL SERUM AFP ELEVATION

DIAGNOSTIC TESTS
1. SPECIALIZED SONOGRAPHIC EVALUATION
 Exclude the three common causes of AFP elevation
- Underestimation of AOG
- Multifetal pregnancy
- Fetal death
 Sonographic markers of neural tube defect
2. AMNIOCENTESIS

 SPECIALIZED ULTRASOUND
 Five specific cranial anomalies detected by
ultrasonography (MEMORIZE)
1. Frontal Bone Scalloping, also called the lemon sign

 “Depression” on the frontal bone

2. Small Biparietal Diameter

 Non-specific
 Gestational age may have just been
underestimated

3. Ventriculomegaly

 See if the ventricles are dilated

4. Obliteration of the Cisterna Magna

5. Elongated Cerebellum, the banana sign

 Numerous fetal and placental abnormalities have

been associated with AFP elevation. The likelihood of
one of these abnormalities or of an adverse pregnancy
outcome in the absence of a recognized abnormality
increases in proportion to the AFP level.
 More than 40 percent of pregnancies may be
abnormal if the AFP level is greater than 7 MoM.
 FETAL DEATH  Could be either elevated or low

DIAGNOSTIC TESTS
 Diagnostic tests are offered to the following:
 Women with abnormally elevated serum AFP levels
 With certain RISK FACTORS and NORMAL AFP levels
 Even if they have normal screening tests, women
could still be offered diagnostic tests because of the
risk factors.
 In addition to these cranial findings, transverse and
sagittal images of the spine are increasingly used to
characterize the size and location of spinal defects.
 The overall NTD risk may be reduced by at least 95
percent when no spine or cranial abnormality is
observed.

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 AMNIOCENTESIS
 Amnionic fluid AFP
levels are measured if :
- An NTD is suspected
- If the maternal serum
AFP is elevated
 DIAGNOSTIC OF NTD:
1. Amnionic fluid AFP
levels elevated with
2. Acetylcholinesterase Assay Positive
 Why is acetylcholinesterase measured?
 Acetylcholinesterase leaks directly from exposed
neural tissue into the amnionic fluid.
DIFFERENTIAL diagnoses for an Elevated amnionic fluid
AFP and positive assay for Acetylcholinesterase:
- Ventral wall defects
- Esophageal atresia
- Fetal teratoma
- Cloacal exstrophy,
- Skin abnormalities such as epidermolysis bullosa
 Amniocentesis may be used in conjunction with
specialized sonography
 Amniocentesis for fetal karyotype is offered following
sonographic diagnosis of NTD
 UNEXPLAINED MATERNAL SERUM AFP ELEVATION
 No fetal or placental abnormality detected after a
specialized sonographic evaluation, with or without
amniocentesis
 Adverse Pregnancy Outcomes:
- Fetal anomaly not detectable prenatally
- Fetal-growth restriction
- Oligohydramnios
- Placental abruption
- Preterm membrane rupture
- Preterm birth
- Fetal death
 Many of these complications are assumed to result
from placental damage or dysfunction.
 Importantly, AFP level elevation is not considered to
be clinically useful as a screening tool for adverse
pregnancy outcomes, due to its low sensitivity and
positive predictive value. No specific program of
maternal or fetal surveillance has been found to
favorably affect pregnancy outcomes.
MANAGEMENT OF FETUS WITH NTD
 The American College of Obstetricians and Gynecologists
recommends that the route of delivery for the fetus with
spina bifida should be individualized.
 Optimal timing and method of delivery are controversial
 Routine Prenatal Care
 Interventions for fetal indications are not recommended 
Will not change fetal outcome
 Counseling & Decision Making
 Delivery at Term
 Route: CS vs Vaginal
- CS might reduce the risk of mechanical trauma and fetal
spinal infection
- CS is scheduled to allow precise timing so that
appropriate management team can be assembled
ANEUPLOIDY SCREENING PROTOCOLS
 Aneuploidy is the presence of an abnormal number of
chromosomes in a cell, such as having 45 or 47
chromosomes when 46 chromosomes is expected.
 Threshold for "advanced maternal age“ = 35 years old
 Fetal trisomy increases considerably with maternal age and
rises most rapidly beginning at age 35
 Prenatal diagnostic testing for fetal aneuploidy screening
may be done for both women aged younger than 35 years
and for women 35 and older
 The American College of Obstetricians and Gynecologists
(2007b) recommends that all women who present for
prenatal care before 20 weeks be offered screening
 Thus, regardless of age, all women are counseled regarding
the differences between screening and diagnostic tests, and
they are given the option of invasive diagnostic testing
WOMEN WITH INCREASED RISK OF FETAL ANEUPLOIDY
 Singleton pregnancy and maternal age older than 35 at
delivery
 Dizygotic twin pregnancy and maternal age older than 31 at
delivery
 Previous autosomal trisomy birth
 Patient or partner is carrier of chromosome translocation
 Patient or partner is carrier of chromosomal inversion
 History of triploidy
 Some cases of repetitive early pregnancy losses
 Patient or partner has aneuploidy
DOWN SYNDROME
 Characterized by low maternal serum AFP levels at 15 to 20
weeks
 Addition of other serum analytes to second-trimester
screening has improved Trisomy 21 detection
FIRST TRIMESTER DOWN SYNDROME SCREENING (Between
11 and 13 6/7 weeks)
1. Maternal Serum Screening
 Free beta hCG
 Pregnancy-associated plasma protein A (PAPP-A)
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 In Down Syndrome:
 Free beta hCG is high  Approximately 2.0 MoM
 Low PAPP-A  Approximately 0.5 MoM
2. Sonographic Evaluation: Nuchal Translucency (NT)
 Reserved for first trimester
 Maximum thickness of the subcutaneous translucent
area between the skin and soft tissue overlying the
fetal spine at the back of the neck
 An increased NT thickness itself is not a fetal
abnormality, but rather is a marker that confers
increased risk.
 Approximately one third of fetuses with increased
nuchal translucency thickness will have a
chromosome abnormality, nearly half of which are
Down syndrome.
3. Or a Combination of Both:
 Most commonly used
 Comparable to a Quad test 2nd trimester result
 Combining Nuchal Translucency with serum analyte
values results in greatly improved aneuploidy
detection.
 The American College of Obstetricians and Gynecologists
(2007b) recommends that when the NUCHAL
TRANSLUCENCY MEASUREMENT IS 3.5 MM OR GREATER
with a normal fetal karyotype, targeted sonographic
examination, fetal echocardiography, or both should be
considered.
SECOND TRIMESTER DOWN SYNDROME SCREENING
 Multiple Maternal Serum Markers could reliably
differentiate pregnancies affected by trisomy 18 and 21
from unaffected pregnancies
 Serum Markers: Triple Test & Quad Test* (MEMORIZE)
TRIPLE TEST QUAD TEST
 AFP  AFP
 Human Chorionic  Human Chorionic
Gonadotropin (hCG) Gonadotropin (hCG)
 Unconjugated Estriol  Unconjugated Estriol
Concentration Concentration
 Dimeric Inhibin Alpha*
 In Down Syndrome:
 Low serum AFP levels  Approximately 0.7 MoM
 High HCG levels  Approximately 2.0 MoM
 Low Unconjugated Estriol Concentration 
Approximately 0.8 MoM
 In Trisomy 18, all of the 3 markers are decreased.
 Dimeric Inhibin Alpha is elevated in Down Syndrome,
with an average value of 1.8 MoM
 The addition of dimeric inhibin to the other three
markers is the quadruple or quad test, which has a
trisomy 21 detection rate of approximately 80
percent at a false-positive rate of 5 percent.
 Multiple Marker Screening of Down’s Syndrome
 Positive Screening Test: increased risk but it is not
diagnostic of Down syndrome or another aneuploidy
 Negative Screening Test: the risk is not increased, but it
does not guarantee a normal fetus
 Once gestational age is confirmed by sonography, women
with a (+) screening test should be offered amniocentesis
for karyotyping (ACOG, 2007b)
COMBINED FIRST AND SECOND TRIMESTER SCREENING
1. Integrated Screening
 Combines results of both the first and second trimester
screening tests into a single risk
 Has the highest Down syndrome detection rate 90 to 96%
 Disadvantage: Results are not available until the second-
trimester screening test has been completed
2. Sequential Screening
 Discloses results of first-trimester screening to women at
highest risk, thus allowing them the option of earlier
invasive testing
 Two Testing Strategies:
- Stepwise Sequential Screening
 Women with first trimester screen results that
confer risk for Down syndrome above a particular
threshold are offered invasive testing, and the
remaining women receive second-trimester
screening.
- Contingent Sequential Screening
 Women are divided into high-, moderate-, and
low-risk groups.
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 Those at highest risk are offered invasive testing.

MAJOR STRUCTURAL DEFECTS

 Fetal aneuploidy commonly is associated with major
anatomical malformations and minor markers.
 The specific aneuploidy risk associated with most major
anomalies is high enough to prompt invasive fetal testing.
 Not all aneuploid fetuses will have a detectable major
malformation by ultrasound.

ULTRASONOGRAPHIC SCREENING
 Incidental Finding of a Major Structural Defect
 Finding of TWO OR MORE MINOR structural
abnormalities in the same fetus also indicates a risk of
aneuploidy  Fetal Karyotyping
 Some combinations of anomalies may indicate a genetic
syndrome not resulting from aneuploidy, fetal
karyotyping is still indicated because aneuploidy-
associated abnormalities can mimic other syndromes

 Pyelectasis  Dilated renal pelvis

FAMILIAL GENETIC DISEASE

*NICE TO KNOW 

DIAGNOSTIC TECHNIQUES

 Invasive procedures used in prenatal diagnosis—

amniocentesis, chorionic villus sampling, and fetal blood
sampling -- enable a vast array of sophisticated genetic
diagnoses to be made before birth.
 Improvements in aneuploidy screening tests during the
past decade as described in the preceding section have
resulted in a significant decrease in the number of
prenatal diagnostic procedures.

AMNIOCENTESIS
 For genetic diagnosis: between 15
and 20 weeks
 Clinical Setting for Amniocentesis
 Fetal karyotyping
 Unexplained elevated maternal
alpha-feto protein
 Amniotic AFP fluid measurement

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 Serum screening in women older than 35 years PERCUTANEOUS UMBILICAL CORD BLOOD SAMPLING (PUBS)
 First-trimester down syndrome screening  Also called CORDOCENTESIS
 Screening for heritable genetic diseases  INDICATIONS:
 Assessment and treatment of confirmed red cell or
TECHNIQUE: platelet
 Ultrasonographic guidance is used to pass a 20- to 22- ALLOIMMUNIZATION
gauge spinal needle into the amnionic sac while  Analysis of NONIMMUNE
avoiding the placenta, umbilical cord, and fetus HYDROPS
 Approximately 20 mL of fluid is then collected for fetal  COMPLICATIONS:
karyotyping, and the needle is removed 1. Cord vessel bleeding
 Uterine puncture site is observed for bleeding, and the 2. Cord hematoma
woman is shown fetal heart motion and the remaining 3. Fetal–maternal
amnionic fluid at the conclusion of the procedure hemorrhage
4. Fetal bradycardia
 COMPLICATIONS: Transient vaginal spotting or amnionic
fluid leakage and chorioamnionitis TECHNIQUE:
 The operator punctures the umbilical vein, usually at
 EARLY AMNIOCENTESIS or near its placental origin, with a 22-gauge spinal
 Between 11 and 14 weeks needle under direct ultrasonographic guidance, and
 Same technique blood is withdrawn.
 Puncture of the sac maybe difficult
 Less fluid can be withdrawn
 Higher rates of post-procedural pregnancy loss and other FETAL TISSUE BIOPSY
complications  Direct analysis of fetal tissue obtained ultrasonographically
 Associated with more positional foot deformities from guided biopsy
damage of the vascular supply of the developing limb  Muscle biopsy to diagnose muscular dystrophy or
 Many centers no longer perform amniocentesis before mitochondrial myopathy
14 weeks  Skin biopsy to diagnose epidermolysis bullosa

CHORIONIC VILLUS SAMPLING Antenatal therapy is not available for most congenital
 10 to 13 weeks anomalies
 Villi obtained Prenatal Diagnosis: Allows psychological preparation
transcervically or Consultation with pediatric subspecialist
transabdominally, Counseling session placed in the chart
 INDICATIONS: Same
with amniocentesis, FETAL THERAPY
except for a few analyses FETAL TRANSFUSION
that specifically require 1. Isoimmunization  Fetal anemia
either amnionic fluid or 2. Parvovirus Infection  Severe transient aplastic anemia
placental tissue with heart failure & hydrops
 Complications are similar 3. Severe but not ongoing fetal-maternal hemorrhage
to those of amniocentesis 4. Fetal Hemoglobin Bart Disease
 Amniocentesis was safer than either transcervical CVS or
early amniocentesis FETAL MEDICAL THERAPY
 They recommend transabdominal CVS if early diagnosis is 1. Fetal Thyrotoxicosis
required  Treatment: PTU
2. Congenital Adrenal Hyperplasia
RELATIVE CONTRAINDICATIONS:  Treatment: Corticosteroids
 Vaginal bleeding or spotting 3. Fetal Arrhythmia
 Treatment: Digoxin, Verapamil, Propranolol,
 Active genital tract infection
Procainamide, Quinidine, Flecainide, Sotalol, Amiodarone
 Extreme uterine flexion
 Body habitus precluding easy uterine access or clear
FETAL SURGERY
ultrasonographic visualization of its contents
1. Urinary Shunts
2. Thoracic Shunts

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3. Congenital Diaphragmatic Hernia  TRANSVAGINAL EXAMINATION

4. Sacrococcygeal Teratoma  Cardiac Motion  Embryo is 5 mm in length (CRL= 6
5. Congenital Cystic Adenomatoid Malformation and weeks)
Pulmonary Sequestration
6. Neural Tube Defect  INDICATIONS FOR 1ST TRIMESTER ULTRASOUND
 Confirm intrauterine pregnancy
ULTRASONOGRAPHY IN OBSTETRICS  Evaluate suspected ectopic pregnancy
TECHNOLOGY  Define cause of vaginal bleeding
 Picture displayed is produced by sound waves reflected back  Evaluate pelvic pain
from the imaged structure  Estimate gestational age
 Alternating current is applied to a transducer containing  Diagnose or evaluate multiple gestations
piezoelectric crystals, which converts electrical energy to  Confirm cardiac activity
high-frequency sound waves  Assist to chorionic villus sampling, embryo transfer, and
 Water-soluble gel  Used as a coupling agent localization and removal of intrauterine device
 Dense tissue (bone)  Produces high-velocity reflected  Evaluate maternal pelvic masses or uterine abnormalities
waves, color WHITE  Evaluate suspected gestational trophoblastic disease
 Fluid  Anechoic and generates few reflected waves, color
BLACK  COMPONENTS OF STANDARD ULTRASOUND
 Images are generated quickly (> 40 frames/sec) picture EXAMINATION BY TRIMESTER
appear real-time. SECOND AND THIRD
FIRST TRIMESTER
 Higher frequency transducers  Better image resolution TRIMESTER
 Lower frequency  Penetrate tissue more effectively  Gestational sac location  Fetal number
 Embryo or yolk sac  Presentation
SAFETY identification  Fetal heart motion
 Valid medical indication  Crown-rump length  Placental location
 Lowest possible exposure setting to gain necessary  Cardiac activity  Amnionic fluid volume
diagnostic information  Fetal number, including  Gestational age
 The ALARA principle or "as low as reasonably achievable" number of amnions and assessment
 No confirmed damaging biological effects in mammalian chorions of multiples  Fetal weight estimation
tissue when possible  Evaluation for maternal
 No fetal harm has been demonstrated in more than 30 years  Uterus, adnexal, and pelvic masses
of use cul-de-sac evaluation  Fetal anatomic survey

CLINICAL APPLICATIONS SECOND AND THIRD TRIMESTERS

 Accurate Pregnancy Dating and Detection of Fetal
Anomalies
 Estimated gestational age determined sonographically is
more accurate than one based on last menstrual period
 Reduction in the number of labor inductions for post-term
pregnancy
 Accurate dating also may alter the method of pregnancy
termination
FIRST TRIMESTER
 Diagnosis of pregnancy viability
 Valuable in diagnosing abnormalities such as anembryonic
gestation as well as embryonic demise
 Multifetal gestation can be identified  OPTIMAL TIME to
determine chorionicity
 BEST TIME to evaluate the uterus, adnexal structures, and
cul-de-sac
 TRANSABDOMINAL SCANNING
 Gestational Sac  6 weeks
 Fetal Echoes & Cardiac activity  7 weeks
 Fetal anatomical survey
 Multiple Gestations  Additional documentation includes
the number(s) of chorions and amnions, comparison of fetal
sizes, estimation of amnionic fluid volume in each sac, and
description of fetal genitalia if visualized
 There are three types of examinations: standard,
specialized, and limited.
 Standard Sonographic Examination is the most
commonly performed.
 Specialized or Targeted Examination is a detailed
anatomical survey performed when an abnormality is
suspected on the basis of history, screening test
result, or abnormal findings from a standard
examination.
 Limited Examination is performed to address a
specific clinical question. Examples include amnionic
fluid volume assessment, placental location, or
evaluation of fetal presentation or viability.

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 SOME INDICATIONS FOR SECOND- OR THIRD-TRIMESTER FETAL BIOMETRY

ULTRASOUND EXAMINATION  Accurate assessment of gestational age
 Estimation of gestational age  Describe normal growth of fetal structures
 Evaluation of fetal growth  Estimates gestational age from the crown-rump length
 Vaginal bleeding measurement in the first trimester
 Abdominal or pelvic pain  Estimates both gestational age and fetal weight in the
 Incompetent cervix second and third trimester using measurements of the
 Determination of fetal presentation biparietal diameter, head circumference, abdominal
 Suspected multiple gestation circumference, and femur length.
 Adjunct to amniocentesis  ACCURATE ESTIMATE when multiple parameters and
 Significant uterine size or clinical dates discrepancy nomograms are used and when have been derived from
 Pelvic mass fetuses of the same ethnic or racial background living at
 Suspected molar pregnancy similar altitude
 Adjunct to cervical cerclage
 Suspected ectopic pregnancy FETAL MEASUREMENTS
 Suspected fetal death  Gestational Sac (GS)  4 – 6 weeks
 Suspected uterine abnormality
 Evaluation of fetal well-being  No embryo yet  Measure gestational sac (mean sac
 Suspected hydramnios or oligohydramnios diameter)
 Suspected abruptio placentae
 Adjunct to external cephalic version  Crown-Rump Length (CRL)
 Preterm prematurely ruptured membranes or preterm
 With embryo  Measure crown-rump length
labor
 Abnormal biochemical markers  Most accurate at 8-10 weeks
 Follow-up observation of identified fetal anomaly  Variation of only 3 to 5 days
 Follow-up evaluation of placental location for suspected  Biparietal Diameter (BPD)
placenta previa  At 14- 26 weeks, is usually the most accurate parameter,
 History of previous congenital anomaly with a variation of 7 to 10 days
 Serial evaluation of fetal growth in multifetal gestation  Head Circumference (HC)
 Evaluation of fetal condition in late registrants for  This measurement is more reliable than the BPD
prenatal care  If the head shape is flattened (dolichocephaly) or rounded
(brachycephaly)

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[OBSTETRICS A] PRENATAL DIAGNOSIS, FETAL THERAPY AND ULTRASONOGRAPHY

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 [OBSTETRICS A] PRENATAL DIAGNOSIS, FETAL THERAPY AND ULTRASONOGRAPHY

 Femur length (FL)

 Correlates well with both BPD and gestational age, has a
variation of 7 to 11 days in the second trimester
 Abdominal circumference (AC)
 Parameter with the widest variation of 2 to 3 weeks, most
affected by fetal growth
 THIRD TRIMESTER  All individual measurements
become less accurate

AMNIONIC FLUID
 Amount of amnionic fluid
 Oligohydramnios  Seen as obvious crowding of the fetus
and absence of any significant pockets of fluid
 Hydramnios  An apparent excess of fluid
 Most widely used is the amnionic fluid index (AFI)
 Amniotic fluid index (AFI, 4Q technique)  NV: 5 to 24 cm
 Largest/single vertical pocket (SVP)  NV: 2 to 8 cm

THREE & FOUR DIMENSIONAL ULTRASONOGRAPHY

 Superior views of fetal surface anatomy to be obtained
 Potentially allowing improved visualization of selected
structures such as the face, ear, and extremities.
 To adequately image a fetal structure in three dimensions,
the part must be surrounded by amnionic fluid because
crowding by adjacent structures obscures the captured
image.
 Even under ideal circumstances, image processing may take
considerably more time than is typically devoted to two-
dimensional (2-D) scanning.

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 [OBSTETRICS A] PRENATAL DIAGNOSIS, FETAL THERAPY AND ULTRASONOGRAPHY

 UMBILICAL ARTERY
DOPPLER VELOCIMETRY
 Used to determine the volume and rate of blood flow
through maternal and fetal vessels
 Systolic–diastolic ratio (S/D ratio)  Compares maximum
(peak) systolic flow with end-diastolic flow, thereby
evaluating downstream impedance to flow
 Review of Physics (Argh!)

 Transducer transmits pulses  transmitted beam is

received by the moving RBCs  moving RBCs transmit
scattered beam  transducer receives the scattered
beam

 DOPPLER WAVEFORM ANALYSIS

 Vasodilated blood vessel  Low
resistance to flow  Greater velocity of
RBCs within the blood vessel  Higher
Doppler waveform
 A  Normal
 B and C  Abnormal
 B = Absent End-Diastolic Flow
 C = Reversed End-Diastolic Flow
 Brings deoxygenated blood from the fetus back to the
placenta
 Will tell us about the status of the placental vessels

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 [OBSTETRICS A] PRENATAL DIAGNOSIS, FETAL THERAPY AND ULTRASONOGRAPHY

 Normally has forward (diastolic) flow as more placental
tertiary villi are formed and as the vessels vasodilate
 Thus the S/D ratio decreases and is generally less than 3.0
after 30 weeks
 When placenta vessels are “diseased” or constricted,
diastolic flow is diminished until it becomes absent and
actually reverses
 ABNORMAL:
- If the S/D ratio is above the 95th percentile for
gestational age.
- In extreme cases of growth restriction, end-diastolic
flow may become absent or even reversed
- These are ominous findings and should prompt a
complete fetal evaluation—almost half of cases are due
to fetal aneuploidy or a major anomaly
- In the absence of a reversible maternal complication or
a fetal anomaly, reversed end-diastolic flow suggests
severe fetal circulatory compromise and usually
prompts immediate delivery
- Endovascular trophoblasts invade the spiral arteries 
Tunica media is destroyed  Vasodilation  Increased
flow and therefore decreased indices
 Increased resistance to flow means that the
cytotrophoblastic invasion of the spiral arteries is not
optimal  Uteroplacental insufficiency
- Hypertension
- Intrauterine Growth Restriction
 Abnormal UtA Doppler
- Increased indices
- Persistent pre-diastolic notching
 SUMMARY OF DOPPLER STUDIES

Diminished blood flow may be reflected such as the

following:
1. Diastolic notch
2. Increased SD ratio (Stuart Index)
3. Pulsatility index; Resistance index  TEMPORAL SEQUENCE OF ABNORMAL DOPPLER CHANGES
4. Absence or reversed end diastolic (ARED) blood flow

 MIDDLE CEREBRAL ARTERY

 Normally a high resistance vessel (meaning, high doppler
indices)
 In response to fetal hypoxia, the fetus tries to compensate
by shunting more blood to the essential organs – brain,
heart
 This means the vessels in the brain DILATE  Low doppler
indices  Early changes occurred in the MCA and UMA, 50% of
 In the presence of fetal anemia, there is increased cardiac patients affected 15 to 16 days prior to delivery.
output and decreased blood velocity  Systolic velocity  Late changes included UMA REDF and abnormal
of MCA is increased changes in the DV, aortic and pulmonary outflow
tracts with 50% of patients affected 4-5 days prior to
 DUCTUS VENOSUS delivery.
 Shunts the oxygenated blood from the umbilical vein  The last velocimetric abnormalities were abnormal
forward to the heart to bypass the portal circulation pulmonary artery peak velocity, ductus venosus
 In the presence of chronic fetal hypoxia, when the heart is reversed flow and abnormal peak velocities in the
not able to compensate anymore and congestive heart outflow tract of the aorta with 50% of fetuses
failure ensues, forward flow through the DV cannot occur showing these changes 3 to 4 days prior to delivery.
(diastolic flow decreases) and eventually reverses
 Pre-terminal event

 If there are pulsations in the ductus venosus  In

one day or two, the fetus might die

 UTERINE ARTERY
 Characterized by progressively decreasing indices

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