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Ultrasonography of
Congenital fetal
DefectsProf Aboubakr Elnashar
Benha university. Egypt
Aboubakr Elnashar
1. Introduction
Incidence
2.5% of total births
1/3: NTD
1/3: congenital heart
1/3: other anomalies
20% of S.B
Aboubakr Elnashar
2. Indications for targeted U/S
In the past
I. From history
1. Maternal age >35 years
2. Previous child with structural or
chromosomal. anomalies.
3. Family history
4. Exposure to irradiation or teratogen
5. IDDM
6. Repeated pregnancy loss
Aboubakr Elnashar
II. From examination
1. Ab. MSAFP
2. Multiple pregnancy
3. Severe poly. or oligohydramnios.
4. Suspicious finding on routine U/S.
5. IUGR
6. Ab. Placenta (thick, cystic, hydropic)
7. Abnormal Doppler velocimetry of umbilical cord
Today:Routine mid-trimester fetal ultrasound scan(ISUOG, FMF, RCOG, SMFM)
Aboubakr Elnashar
3. Role of Ultrasonography
1. Direct visualization of the defect
Anencephaly.
2. Visualization of the pathology due to the defect
Dilated stomach and duodenum
{duod. Atrsia}.
Increased nuchal folds & short femurs
{Down syndrome}
3. Ultrasonic markers of chromosomal abnormalities.
4. Guide to obtain fetal tissue
Amniocentesis
Fetoscopy
Chorionic villous biopsy
Cordocentesis.Aboubakr Elnashar
7. Anomaly scan
Indication
All pregnant women
NICEAll pregnant women should be offered 2 scans in pregnancy :
- 1st : 11-13 w- 2nd : around 20 w
Aboubakr Elnashar
Mid-trimester fetal ultrasound scan
Objective
1. Congenital malformations
2. Gestational age.
3. Fetal measurements for the timely detection of growth
abnormalities later in pregnancy.
4. Multiple pregnancies.
Aboubakr Elnashar
When:
between 18 and 22 w.
Sonographer:
well-trained
US machine:
Real time, gray-scale
TA transducers (3–5-MHz range)
adjustable acoustic power output controls with output display
standards
freeze frame capabilities
electronic calipers
capacity to print/store images
regular maintenance and servicing
Chick listAboubakr Elnashar
First Trimester Ultrasound Scan
Objective
1. Towards the end of the first trimester, gross fetal
abnormalities.
2. aneuploidy screening
3. viability
4. gestational age accurately
5. number of fetuses
6. Assess chorionicity and amnionicity.
Aboubakr Elnashar
When:
between 11 and 13+6 w.
Any time if there clinical concerns, pathological
symptoms or specific indications.
Aboubakr Elnashar
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