by hafiz m Waseem university of education Lahore

2. HAFIZ M WASEEM UNIVERSITY OF
EDUCATION LAHORE

3. TOPIC
ULTRASOUND SCANNING

4. CONTENTS
Screening tests
Ultrasound scan
Types of Ultrasound
Ultrasound tools
Best time for Ultrasound
Preparation for Ultrasound
Procedure
Genetic disorder
 It’s causes

5. CONTI…
Symptoms of Genetic disorder
Treatment of Birth Defects
Uses of Ultrasound
References

6. SCREENING TEST
Screening look at establish risk of getting a baby with bound disorders.
 Carrier screening
 Prenatal screening

7. ULTRASOUND SCAN
An ultrasound scan is a medical test that uses high-frequency sound waves to capture live images
from the inside of your body. It's also known as sonography.
Most scans take between 20 and 60 minutes. It is not normally painful, and there is no noise.

8. TYPES OF ULTRASOUND
There are two main categories of ultrasounds
 Pregnancy ultrasound
 Diagnostic ultrasound
PREGNANCY ULTRASOUND
Pregnancy ultrasound is use to look at an unborn baby. This test provides information about a
baby’s growth, development, and overall health.

9. DIAGNOSTIC ULTRASOUND
Diagnostic ultrasound is use to provide information about other internal parts of the body. These
include the heart, blood vessels, liver, bladder, kidneys, and female reproductive organs.

10. EXTERNAL ULTRASOUND
 External ultrasound is used to examine patient’s heart or a fetus in the uterus.
 The sonographer place a lubricating gel onto the patient’s skin and places a transducer over the
lubricated skin.
INTERNAL ULTRASOUND
 Internal ultrasound is used to evaluate some part of the digestive system, for example, the
esophagus, the chest lymph nodes, or the stomach etc.
 A light and an ultrasound device are attach to the end of the endoscope, which inserted into the
patient’s body, usually through the mouth.

11. ULTRASOUND TOOLS
 Ultrasound transducers
 Ultrasound gel
 Ultrasound monitor

12. ULTRASOUND TRANSDUCER
Transducer, or wand, is normally place on the surface of the patient’s body, but some kinds are
place internally. These can provide clearer, more informative images.
ULTRASOUND GEL
 Ultrasound gel is a thick substance made up of water and propylene glycol.
 Ultrasound gel is used to reduce the air between patient and the transducer
 It has a sticky consistency

13. ULTRASOUND MONITOR
Image is form on ultrasound monitor, which used to diagnose fetus health and detailed studies of
internal organs.
BEST TIME FOR ULTRASOUND (DURING PREGNANCY)
 The most common time for a scan is about 19-20 weeks of pregnancy. This is the best time to
check the baby's physical development.
 Ultrasound scans can done at any stage of pregnancy, with signs of pregnancy being saw as early
as 5 weeks. This is use to give different information at different times during the pregnancy.

14. PREPARATION BEFORE ULTRASOUND
 Wear comfortable, loose-fitting clothing. Patient may need to remove jewelry.
 Patient may be ask to wear a gown during the procedure.
 For some scans, doctor may instruct not to eat or drink for as many as 12 hours before
appointment. For some others, may ask to drink up to six glasses of water two hours prior to
exam and avoid urinating so that your bladder is full when the scan begins.

15. PROCEDURE
 For most ultrasound exams, patient will lie face-up on an exam table that can be tilt or move.
 sonographer will apply a warm water-based gel to the area of the body being study.
 The transducer is place on the body and moved back and forth over the area of interest until the
desired images obtained.
 The image is reflected on screen, which can easily be studied.

16. GENETIC DISORDER
Following are some genetic disorders :
 Down syndrome
 Anophthalmia syndrome
 Crouzon syndrome
 Usher syndrome
 Warrensburg syndrome
 Cleft lip/palate syndrome
 Hearing Impairment syndrome
 Visual Impairment syndrome

17. DOWN SYNDROME
 Down syndrome is a condition in which a child is born with an extra copy of their 21st
chromosome.
 This causes physical and mental developmental delays and disabilities
 This ultrasound can detect fluid at the back of a fetus's neck.

18. ANOPHTHALMIA
 Anophthalmia is the medical term for the absence of one or both eyes. Both the globe (human
eye) and the ocular tissue are missing from the orbit.
 Causes of these conditions include genetic mutations and abnormal chromosomes.
 X-rays, chemicals, drugs, pesticides, toxins, radiation, or viruses, increase the risk of
anophthalmia.

19. CROUZONE SYNDROME
 Premature fusion of certain skull bones. Early fusion prevents the skull from growing normally
and affects the shape of the head and face.

20. USHER SYNDROME
Deafness due to an impaired ability of the inner ear and auditory nerves to transmit sensory (sound)
input to the brain (sensorineural hearing loss) accompanied by retinitis pimentos, a disorder that
affects the retina and causes progressive loss of vision.

21. WARRENSBURG SYNDROME
 Congenital hearing loss and pigmentation deficiencies
 Bright blue eyes (or one blue eye and one brown eye), a white forelock or patches of light skin.

22. CLEFT LIP/PALATE
Cleft lip and cleft palate are openings or splits in the upper lip, the roof of the mouth
(palate) or both.
Cleft lip may be detect with ultrasound beginning around the 13th week of pregnancy

23. HEARING IMPAIRMENT
It can be present at birth or develop later in life. The genes that cause hearing loss can
come from one or both parents.
These are most often cause by illness or trauma before birth or during birth. Maternal
exposure to different types of drugs and medications can also cause non-hereditary
congenital hearing loss, especially in the early stages of pregnancy.
Fetal motion in response to sound and auditory evoked potential testing can determine
the presence of fetal hearing in the third trimester of pregnancy.

24. VISUAL IMPAIRMENT
Some babies have congenital blindness, which means they are visually impaired at birth.
It can be inherited, for instance, or caused by an infection (like German measles) that's
transmit from the mother to the developing fetus during pregnancy.

25. CAUSES OF GENETIC DISORDER
 Family history or previous child with genetic disorder.
 A parent with an autosomal dominant disorder, or any disorder seen in several generations
 Pregnancy factors (mother older than 35 years)
 Mother with any of the following
 Alcoholism
 Diabetes
 Thyroid disorder
 Depression

26. SYMPTOMS OF GENETIC DISORDER
 Ear abnormalities
 Unusually shaped eyes
 Different colored eyes
 Facial features that are unusual or different from other family members
 Brittle or sparse hair
 Excessive body hair
 White patches of hair
 Large or small tongue
 Misshapen teeth

27. CONTI…
Missing or extra teeth
Loose or stiff joints
Unusually tall or short stature
Webbed fingers or toes
Excessive skin
Unusual birthmarks
Increased or decreased sweating
Unusual body odor

28. TREATMENT OF BIRTH DEFECTS
 GENE THERAPY
 ENZYME REPLACEMENT THERAPY
 PRENATAL TREATMENT

29. USES OF ULTRASOUND
Ultrasound is use to help physicians evaluate symptoms
Pain
Swelling
Infection

30. Ultrasound is a useful way of examining many of the body's internal organs, including
but not limited to the:
 Heart and blood vessels, including the abdominal aorta and its major branches
 Liver
 Gallbladder
 Spleen
 Pancreas
 Kidneys

31.  Bladder
 Uterus, ovaries, and unborn child (fetus) in pregnant patients
 Eyes
 Thyroid and parathyroid glands
 Scrotum (testicles)
 Brain in infants
 Hips in infants
 Spine in infants

32. REFERENCES
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