This document discusses various soft markers that can be detected on ultrasound during the second trimester to screen for fetal aneuploidies like Down syndrome. It describes markers like thickened nuchal fold, mild ventriculomegaly, echogenic bowel, mild pyelectasis, single umbilical artery, echogenic intracardiac focus, choroid plexus cysts, and enlarged cisterna magna. For each marker, it discusses the association with aneuploidy and provides recommendations from medical organizations on evaluation and need for further testing.
In this presentation we will discuss
First trimester US especially TVS is an integral part for confirmation of intrauterine pregnancy and to rule out ectopic pregnancy.
First trimester US helps us in suggesting conceptus viability.
First trimester US especially TVS is very efficient in approaching and evaluating the cause of vaginal bleeding.
In this presentation we will discuss
First trimester US especially TVS is an integral part for confirmation of intrauterine pregnancy and to rule out ectopic pregnancy.
First trimester US helps us in suggesting conceptus viability.
First trimester US especially TVS is very efficient in approaching and evaluating the cause of vaginal bleeding.
Nuchal translucency
It is a sonographic pre natal screening scan to detect cardiovascular abnormality in a fetus.
NT can also detect altered extra cellular matrix composition and limited lymphatic drainage
Sonographic evaluation of fetal face is a part of anatomic survey in mid pregnancy
However , little is required; b/c according to american institute of ultrasound in modern practice guidelines, only visualization of fetal upper lip is mandatory during anatomy survey.
3D & 4D images are more informatory in cases where fetal face is hard to evaluate in 2D scan due to fetal position.
In this presentation we will discuss role of Doppler US in Infertility, fertilization and assisted fertilization.
we will discuss the favorable and unfavorable RI and PI.
We will discuss role of doppler us in various gynecological malignancies.
Nuchal translucency
It is a sonographic pre natal screening scan to detect cardiovascular abnormality in a fetus.
NT can also detect altered extra cellular matrix composition and limited lymphatic drainage
Sonographic evaluation of fetal face is a part of anatomic survey in mid pregnancy
However , little is required; b/c according to american institute of ultrasound in modern practice guidelines, only visualization of fetal upper lip is mandatory during anatomy survey.
3D & 4D images are more informatory in cases where fetal face is hard to evaluate in 2D scan due to fetal position.
In this presentation we will discuss role of Doppler US in Infertility, fertilization and assisted fertilization.
we will discuss the favorable and unfavorable RI and PI.
We will discuss role of doppler us in various gynecological malignancies.
Obstetrical Ultrasound• Introduced in the late 1950’s ultrasonography is a safe, non- invasive, accurate and cost-effective means to investigate the fetus• Computer generated system that uses sound waves integrated through real time scanners placed in contact with a gel medium to the maternal abdomen• The information from different reflections are reconstructed to provide a continuous picture of the moving fetus on the monitor screen
USMLE GENERAL EMBRYOLOGY 018 Prenatal Diagnostic Prenatal Diagnostic Proce...AHMED ASHOUR
Prenatal diagnostic procedures are medical tests performed during pregnancy to assess the health of the fetus.
These procedures are typically recommended when there is an increased risk of certain genetic or chromosomal disorders, or when there are concerns about the baby's development.
It's important to note that these procedures carry some level of risk, and decisions regarding their use should be made after careful consideration of the potential benefits and drawbacks.
When a lady visits her Obstetrician, she may be advised Ultrasonography Scan at some stage in pregnancy. It is a frequently asked question as to how many scans should she undergo during pregnancy? When? Why? (for what purpose?). I have explained this in simplified manner. Ultrasonography is an ideal and safe screening tool in pregnancy.
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.
Lecture on prenatal genetic diagnostic techniques and their value in detection of prenatal genetic anomalies. This lecture details techniques employed in the common diagnostic interventions used in prenatal period and their usefulness.
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.
TEST BANK for Operations Management, 14th Edition by William J. Stevenson, Ve...kevinkariuki227
TEST BANK for Operations Management, 14th Edition by William J. Stevenson, Verified Chapters 1 - 19, Complete Newest Version.pdf
TEST BANK for Operations Management, 14th Edition by William J. Stevenson, Verified Chapters 1 - 19, Complete Newest Version.pdf
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
Lung Cancer: Artificial Intelligence, Synergetics, Complex System Analysis, S...Oleg Kshivets
RESULTS: Overall life span (LS) was 2252.1±1742.5 days and cumulative 5-year survival (5YS) reached 73.2%, 10 years – 64.8%, 20 years – 42.5%. 513 LCP lived more than 5 years (LS=3124.6±1525.6 days), 148 LCP – more than 10 years (LS=5054.4±1504.1 days).199 LCP died because of LC (LS=562.7±374.5 days). 5YS of LCP after bi/lobectomies was significantly superior in comparison with LCP after pneumonectomies (78.1% vs.63.7%, P=0.00001 by log-rank test). AT significantly improved 5YS (66.3% vs. 34.8%) (P=0.00000 by log-rank test) only for LCP with N1-2. Cox modeling displayed that 5YS of LCP significantly depended on: phase transition (PT) early-invasive LC in terms of synergetics, PT N0—N12, cell ratio factors (ratio between cancer cells- CC and blood cells subpopulations), G1-3, histology, glucose, AT, blood cell circuit, prothrombin index, heparin tolerance, recalcification time (P=0.000-0.038). Neural networks, genetic algorithm selection and bootstrap simulation revealed relationships between 5YS and PT early-invasive LC (rank=1), PT N0—N12 (rank=2), thrombocytes/CC (3), erythrocytes/CC (4), eosinophils/CC (5), healthy cells/CC (6), lymphocytes/CC (7), segmented neutrophils/CC (8), stick neutrophils/CC (9), monocytes/CC (10); leucocytes/CC (11). Correct prediction of 5YS was 100% by neural networks computing (area under ROC curve=1.0; error=0.0).
CONCLUSIONS: 5YS of LCP after radical procedures significantly depended on: 1) PT early-invasive cancer; 2) PT N0--N12; 3) cell ratio factors; 4) blood cell circuit; 5) biochemical factors; 6) hemostasis system; 7) AT; 8) LC characteristics; 9) LC cell dynamics; 10) surgery type: lobectomy/pneumonectomy; 11) anthropometric data. Optimal diagnosis and treatment strategies for LC are: 1) screening and early detection of LC; 2) availability of experienced thoracic surgeons because of complexity of radical procedures; 3) aggressive en block surgery and adequate lymph node dissection for completeness; 4) precise prediction; 5) adjuvant chemoimmunoradiotherapy for LCP with unfavorable prognosis.
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Ozempic: Preoperative Management of Patients on GLP-1 Receptor Agonists Saeid Safari
Preoperative Management of Patients on GLP-1 Receptor Agonists like Ozempic and Semiglutide
ASA GUIDELINE
NYSORA Guideline
2 Case Reports of Gastric Ultrasound
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
4. Non-respiratory functions of the lungs https://academic.oup.com/bjaed/article/13/3/98/278874
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ARTIFICIAL INTELLIGENCE IN HEALTHCARE.pdfAnujkumaranit
Artificial intelligence (AI) refers to the simulation of human intelligence processes by machines, especially computer systems. It encompasses tasks such as learning, reasoning, problem-solving, perception, and language understanding. AI technologies are revolutionizing various fields, from healthcare to finance, by enabling machines to perform tasks that typically require human intelligence.
The prostate is an exocrine gland of the male mammalian reproductive system
It is a walnut-sized gland that forms part of the male reproductive system and is located in front of the rectum and just below the urinary bladder
Function is to store and secrete a clear, slightly alkaline fluid that constitutes 10-30% of the volume of the seminal fluid that along with the spermatozoa, constitutes semen
A healthy human prostate measures (4cm-vertical, by 3cm-horizontal, 2cm ant-post ).
It surrounds the urethra just below the urinary bladder. It has anterior, median, posterior and two lateral lobes
It’s work is regulated by androgens which are responsible for male sex characteristics
Generalised disease of the prostate due to hormonal derangement which leads to non malignant enlargement of the gland (increase in the number of epithelial cells and stromal tissue)to cause compression of the urethra leading to symptoms (LUTS
These lecture slides, by Dr Sidra Arshad, offer a quick overview of physiological basis of a normal electrocardiogram.
Learning objectives:
1. Define an electrocardiogram (ECG) and electrocardiography
2. Describe how dipoles generated by the heart produce the waveforms of the ECG
3. Describe the components of a normal electrocardiogram of a typical bipolar leads (limb II)
4. Differentiate between intervals and segments
5. Enlist some common indications for obtaining an ECG
Study Resources:
1. Chapter 11, Guyton and Hall Textbook of Medical Physiology, 14th edition
2. Chapter 9, Human Physiology - From Cells to Systems, Lauralee Sherwood, 9th edition
3. Chapter 29, Ganong’s Review of Medical Physiology, 26th edition
4. Electrocardiogram, StatPearls - https://www.ncbi.nlm.nih.gov/books/NBK549803/
5. ECG in Medical Practice by ABM Abdullah, 4th edition
6. ECG Basics, http://www.nataliescasebook.com/tag/e-c-g-basics
Title: Sense of Taste
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 structure and function of taste buds.
Describe the relationship between the taste threshold and taste index of common substances.
Explain the chemical basis and signal transduction of taste perception for each type of primary taste sensation.
Recognize different abnormalities of taste perception and their causes.
Key Topics:
Significance of Taste Sensation:
Differentiation between pleasant and harmful food
Influence on behavior
Selection of food based on metabolic needs
Receptors of Taste:
Taste buds on the tongue
Influence of sense of smell, texture of food, and pain stimulation (e.g., by pepper)
Primary and Secondary Taste Sensations:
Primary taste sensations: Sweet, Sour, Salty, Bitter, Umami
Chemical basis and signal transduction mechanisms for each taste
Taste Threshold and Index:
Taste threshold values for Sweet (sucrose), Salty (NaCl), Sour (HCl), and Bitter (Quinine)
Taste index relationship: Inversely proportional to taste threshold
Taste Blindness:
Inability to taste certain substances, particularly thiourea compounds
Example: Phenylthiocarbamide
Structure and Function of Taste Buds:
Composition: Epithelial cells, Sustentacular/Supporting cells, Taste cells, Basal cells
Features: Taste pores, Taste hairs/microvilli, and Taste nerve fibers
Location of Taste Buds:
Found in papillae of the tongue (Fungiform, Circumvallate, Foliate)
Also present on the palate, tonsillar pillars, epiglottis, and proximal esophagus
Mechanism of Taste Stimulation:
Interaction of taste substances with receptors on microvilli
Signal transduction pathways for Umami, Sweet, Bitter, Sour, and Salty tastes
Taste Sensitivity and Adaptation:
Decrease in sensitivity with age
Rapid adaptation of taste sensation
Role of Saliva in Taste:
Dissolution of tastants to reach receptors
Washing away the stimulus
Taste Preferences and Aversions:
Mechanisms behind taste preference and aversion
Influence of receptors and neural pathways
Impact of Sensory Nerve Damage:
Degeneration of taste buds if the sensory nerve fiber is cut
Abnormalities of Taste Detection:
Conditions: Ageusia, Hypogeusia, Dysgeusia (parageusia)
Causes: Nerve damage, neurological disorders, infections, poor oral hygiene, adverse drug effects, deficiencies, aging, tobacco use, altered neurotransmitter levels
Neurotransmitters and Taste Threshold:
Effects of serotonin (5-HT) and norepinephrine (NE) on taste sensitivity
Supertasters:
25% of the population with heightened sensitivity to taste, especially bitterness
Increased number of fungiform papillae
Report Back from SGO 2024: What’s the Latest in Cervical Cancer?bkling
Are you curious about what’s new in cervical cancer research or unsure what the findings mean? Join Dr. Emily Ko, a gynecologic oncologist at Penn Medicine, to learn about the latest updates from the Society of Gynecologic Oncology (SGO) 2024 Annual Meeting on Women’s Cancer. Dr. Ko will discuss what the research presented at the conference means for you and answer your questions about the new developments.
Report Back from SGO 2024: What’s the Latest in Cervical Cancer?
Second trimestric soft markers of aneuploidy
1. Second trimester soft markers of
aneuploidy
Dr.Omneya Nagy Elmakhzangy
Special Fetal care Unit
Ain Shams University
2. Antenatal soft ultrasound markers
• Are fetal sonographic findings that are
generally not abnormalities as such but are
indicative of an increased age adjusted risk of
an underlying fetal aneuploidic or some non
chromosomal abnormalities.
• Based on this definition the term “soft
markers” has been banned by some institutes
and the term “Anatomical variant” is used
instead.
3. Aneuploidy
• Is the presence of an abnormal number of
chromosomes in a cell.
• Most common aneuploidies screened for :
• Trisomy 21 (Down’s Syndrome) .
• Trisomy 13 (Patou’s Syndrome) .
• Trisomy 18 (Edward’s syndrome) .
• Monosomy X
• Triploidy
4. Available screening methods according
to gestational age
• At 11–14 weeks:
– nuchal translucency (NT)
– combined test (NT + hCG + PAPP-A)
5. • At 15 – 20 weeks:
– double test (hCG, uE3)
– triple test (hCG, uE3, AFP)
– quadruple test (hCG, uE3, AFP, inhibin A)
6. • At 11–14 weeks and then at 15–20 weeks:
– integrated test (combined test at 11–14
weeks, followed by AFP, uE3 and inhibin A at
15–20 weeks)
– serum integrated test (PAPP-A and hCG at
11–14 weeks, followed by AFP, uE3 and inhibin
A at 15–20 weeks).
7. Risk Numerical calculation
• The fetal medicine foundation Calculator:
https://fetalmedicine.org/research/assess/triso
mies
• Individual laboratory risk calculation reported
with the results.
9. ACOG Guidelines for screening
• All women, regardless of age, should be
offered aneuploidy screening before 20 weeks'
gestation.
• Women seen during the second trimester are
limited to ultrasonography or quadruple
screening.
• Those seen in the first trimester can be
offered both first- and second-trimester
screening tests.
10. • When discussing options with patients,
physicians should provide information on
detection and false-positive rates, advantages
and disadvantages, limitations, and the risks
and benefits of each screening test and
diagnostic procedure so that the patient can
make an informed decision.
• A numeric risk assessment allows the patient
to determine the risk and consequences of
giving birth versus proceeding with diagnostic
testing.
11. Detection rates.
SCREENING TEST DETECTION RATE (%)
NT measurement 64-70
NT measurement, PAPP-A, free or total
beta-hCG
82-87
Triple screen (maternal serum alpha-
fetoprotein, hCG, unconjugated estriol)
69
Quadruple screen 81
Integrated (NT, PAPP-A, quadruple screen) 94-96
Serum integrated (PAPP-A, quadruple
screen)
85-88
Adapted with permission from ACOG Committee on Practice Bulletins. Screening for fetal
chromosomal abnormalities. Obstet Gynecol 2007;109:218.
12. AIUM 2014
• Historically, risk assessment was based on
second-trimester maternal serum screening
along with genetic sonography to identify
structural anomalies and “soft markers” for
aneuploidy.
• The question that remains is whether there is
any importance to a soft marker for
aneuploidy in the second trimester fetus with
normal anatomic survey results once a risk of
Down syndrome has been established in the
first trimester.
13. • Second-trimester soft markers, especially a
thickened nuchal fold, remain important
observations in the detection of trisomy 21 by
sonography among fetuses who have had first-
trimester sonographic screening for
aneuploidy.
14. NHS (National health service)
• Anatomical variants detected between 18-
20+6 weeks are considered here. Women who
are found to have a low chance of Down’s
syndrome following first or second trimester
screening, or who have declined screening,
should not be referred for further assessment
of chromosome abnormality even if the
variants below are detected, whether single
or multiple.
15. • The only variant that may indicate an
increased chance of aneuploidy is:
Nuchal fold greater than 6 mm.
16. Other markers to be considered
• Choroid plexus cyst
• Dilated cistern magna
• Echogenic focus in the cardiac
ventricle
• Single umbilical artery.
17. Findings have possible significance
other than possible aneuploidy
• Ventriculomegaly (atrium greater than 10
mm)
• Echogenic bowel (with density equivalent to
bone)
• Renal pelvis dilatation (AP measurement
greater than 7mm)
• Small measurements compared to dating
scan (significantly less than 5th centile on
national charts)
19. THICKENED NUCHAL FOLD
• The nuchal fold is the skin thickness in the
posterior aspect of the fetal neck.
• A nuchal fold measurement is obtained in a
transverse section of the fetal head at the
level of the cavum septum pellucidum and
thalami, angled posteriorly to include the
cerebellum.
20.
21. Values
• A measurement of 6 mm be considered
significant between 18 and 24 weeks and a
measurement of 5 mm be considered
significant at 16 to 18 weeks.
22. Important notes
• Thickened nuchal fold should be distinguished
from cystic hygroma, in which the skin in this
area has fluid-filled loculations.
23. • A thickened nuchal fold should not be
confused with nuchal translucency, which is a
specific measurement of fluid in the posterior
aspect of the neck at 11 to 14 weeks’
gestation.
24. Association With Fetal Aneuploidy
• The risk for Down syndrome increased by
approximately 17-fold
25. Recommendations
• A thickened nuchal fold significantly increases
the risk of fetal aneuploidy. Expert review is
recommended, and karyotyping should be
offered (II-1 A).
• A thickened nuchal fold is associated with
congenital heart disease and rarely with other
genetic syndromes. Expert review is
recommended (II-2 B).
26. MILD VENTRICULOMEGALY
• Defined as a lateral ventricular measurements
from 10 to 15 mm.
• The measurement should be in the true axial
plane at the atria of the lateral ventricle and
glomus of the choroid plexus.
27.
28. Association With Fetal Aneuploidy
• When MVM is isolated, the incidence of
abnormal fetal karyotype is estimated at 3.8%
(0 to 28.6%).
29. Recommendations
• Cerebral ventricles greater than or equal to 10 mm are
associated with chromosomal and central nervous
system pathology.
• Expert review should be initiated to obtain the
following:
a. A detailed anatomic evaluation looking for
additional malformations or soft markers (III-B);
b. laboratory investigation for the presence of
congenital infection or fetal aneuploidy (III-B);
• Neonatal assessment and follow-up are important to
rule out associated abnormalities a).
30. ECHOGENIC BOWEL
• Echogenic bowel is defined as fetal bowel with
homogenous areas of echogenicity that are
equal to or greater than that of surrounding
bone.
• The echogenicity has been classified as either
focal or multifocal.
31.
32. Association With Fetal Aneuploidy
• The presence of echogenic bowel is associated
with an increased risk for fetal aneuploidy,
including trisomy 13, 18, 21, and the sex
chromosomes.
33. Recommendations
• Grade 2 and 3 echogenic bowel is associated with
both chromosomal and nonchromosomal
abnormalities.
• Expert review is recommended to initiate the
following:
• a. detailed ultrasound evaluation looking for
additional structural anomalies or other soft
markers of aneuploidy (II-2 A);
• b.detailed evaluation of the fetal abdomen
looking for signs of bowel obstruction or
perforation (II-2 B);
34. • c. detailed evaluation of placental
characteristics (echogenicity, thickness,
position, and placental cord insertion site) (II-2
B);
• d. genetic counselling (II-2 A);
• e. laboratory investigations that should be
offered, including fetal karyotype, maternal
serum screening, DNA testing for cystic
fibrosis (if appropriate), and testing for
congenital infection (II-2 A).
• f. Growth monitoring (II-2 A)
35. MILD PYELECTASIS
• Mild pyelectasis is defined as a hypoechoic
spherical or elliptical space within the renal
pelvis that measures 5mm to 10 mm.
• The measurement is taken on a transverse
section through the fetal renal pelvis using the
maximum anterior-to-posterior measurement.
36.
37. Association With Fetal Aneuploidy
• It is an isolated finding in fetal Down
syndrome in approximately 2%.
• In the absence of other risk factors, the
chance of Down syndrome in the presence of
isolated mild pyelectasis remains small and
does not justify an invasive diagnostic
procedure.
38. Recommendations
• All fetuses with renal pelvic measurements 5 mm
should have a neonatal ultrasound, and those
having measurements > 10 mm should be
considered for a third trimester scan for follow up
(II-2 A).
• Isolated mild pyelectasis does not require fetal
karyotyping (II-2 E).
• Referral for pyelectasis should be considered with
additional ultrasound findings and (or) in women
at increased risk for fetal aneuploidy owing to
maternal age or maternal serum screen results
(II-2 A).
39. SINGLE UMBILICAL ARTERY
• Single umbilical artery (SUA) is the absence of
one of the arteries surrounding the fetal
bladder and in the fetal umbilical cord.
40.
41.
42. Association With Fetal Aneuploidy
• Isolated SUA has not been found to be
significantly associated with fetal aneuploidy.
• Isolated SUA has been associated with both
underlying fetal renal and cardiac
abnormalities, as well as low birth weight
43. Recommendations
• The finding of a single umbilical artery
requires a more detailed review of fetal
anatomy, including kidneys and heart (fetal
echo) (II-2 B).
• An isolated single umbilical artery does not
not warrant invasive testing for fetal
aneuploidy (II-2 A).
44. ECHOGENIC INTRACARDIAC FOCUS
• Echogenic intracardiac focus (EICF) is defined
as a focus of echogenicity comparable to
bone, in the region of the papillary muscle in
either or both ventricles of the fetal heart.
• 88% percent are only in the left ventricle, 5%
are only in the right, and 7% are biventricular.
45.
46. Recommendations
• Isolated EICF with a fetal aneuploidy risk less than
1/600 by maternal age (31 years) or maternal
serum screen requires no further investigations
(III-D).
• Women with an isolated EICF and a fetal
aneuploidy risk greater than 1/600 by maternal
age (31 years) or maternal serum screening
should be offered counselling regarding fetal
karyotyping
• Women with right-sided, biventricular, multiple,
particularly conspicuous, or nonisolated EICF
should be offered referral for expert review and
possible karyotyping (II-2 A).
47. CHOROID PLEXUS CYSTS
• Choroid plexus cysts (CPCs) are
sonographically discrete, small cysts (3mm)
found in the choroid plexus within the lateral
cerebral ventricles of the developing fetus at
14 to 24 weeks’ gestation.
48.
49. Recommendations
• Isolated CPCs require no further investigation
when maternal age or the serum screen
equivalent is less than the risk of a 35-year-old (II-
2 E).
• Fetal karyotyping should only be offered if
isolated CPCs are found in women 35 years or
older or if the maternal serum screen is positive
for either trisomy 18 or 21 (II-2 A).
• All women with fetal CPCs and additional
malformation and soft markers should be offered
referral and karyotyping (II-2 A).
50. ENLARGED CISTERNA MAGNA
• The cisterna magna is measured on a transaxial
view of the fetal head angled 15 degrees caudal
to the canthomeatal line. The anterior/posterior
diameter is taken between the inferior/posterior
surface of the vemis of the cerebellum to the
inner surface of the cranium.
• An enlarged cisterna magna is defined by an
anterior/posterior diameter >10 mm
• The measurement will be falsely exaggerated by a
steep scan angle through the posterior fossa or
dolichocephaly
51.
52.
53.
54. Recommendations
• An isolated enlarged cisterna magna is not an
indication for fetal karyotyping (III-D).
• With an enlarged cisterna magna, expert review
is recommended for follow-up ultrasounds and
possible other imaging modalities (for example,
MRI) and investigations(III-B).
• If the enlarged cisterna magna is seen in
association with other abnormal findings, fetal
karyotyping should be offered (III-B).
56. SHORT FEMUR LENGTH
• A short femur length is defined as a
measurement below the 2.5th percentile for
gestational age .
• The femur should be measured with the bone
perpendicular to the ultrasound beam and
with epiphyseal cartilages visible but not
included in the measurement.
57.
58. Recommendations
• Relative femur shortening is an ultrasound
marker for trisomy 21 and should be
considered during tertiary level evaluation (II-
1 A).
• If a femur appears abnormal or measures
short on screening ultrasound, other long
bones should be assessed and referral with
follow-up ultrasound considered (III-B).
59. SHORT HUMERUS LENGTH
• A short humerus length is defined as a length
below the 2.5th percentile for gestational age
60. Recommendations
• Relative humeral shortening is an ultrasound
marker for trisomy 21 and should be
considered during tertiary level evaluation (II-
1 A).
• If the humerus is evaluated and appears
abnormal or short, other long bones should
be assessed and referral with follow-up
ultrasound considered (III-B).
61. NASAL BONE
• Absence of the nasal bone or measurements
below 2.5th percentile are considered
significant.
• The fetus is imaged facing the transducer with
the fetal face strictly in the midline
62. Association With Fetal Aneuploidy
• The likelihood ratio for this finding varies
depending on ethnic background.
• overall likelihood ratio for Down syndrome
was found to be 132 for Caucasians and 8.5
for African Caribbeans.
63.
64.
65. FIFTH FINGER CLINODACTYLY
• Fifth finger clinodactyly is defined by a
hypoplastic or absent mid-phalanx of the fifth
digit.
66.
67.
68.
69. Association With Fetal Aneuploidy
• Fifth finger clinodactyly is found in 60% of
neonates affected with Down syndrome.
• During antenatal screening, it has been found
to be present in 3.4% of normal fetuses and in
18.8% of fetuses with Down syndrome.
70. Recommendations
• Imaging of the outstretched hand to evaluate
for fifth finger clinodactyly is not an
expectation during the 16- to 20-week
ultrasound (III-C).
• Fifth finger clinodactyly is associated with
trisomy 21 and should be considered for
research or tertiary-level evaluation (III-B).
71. SANDAL GAP
• Sandal gap is described as the separation of
the great and second toe and has been
reported to be present in 45% of newborns
with trisomy 21.1
• Prenatal diagnosis requires imaging the foot
and toes from the plantar view.