Obst.

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Ultrasonic Diagnosis of Congenital Foetal Defects
The Role Of Obstetrician
By Obst. Gyn. Dep. Mansoura Faculty of
Medicine Mansoura Integrated Fertility Center
(MIFC)
Prof. Dr. Mohamed Emam
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Introduction

• Incidence of major cong. Anomalies (CFA)
• 2.5 of total births (1/3 neural tube
  conge.Ht1/3).
• ICSI 5-6 of total births.
• Consanguinity 4.
• 20 of S.B. early neonatal death
• 15 of infant death in first year (Now ranked
  second after birth injuries)

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Introduction cont

• Techniques for prenatal diagnosis of CFA
• Radiology (plain amniography-fetography)
• Ultrasonic.
• Fetoscopy ultrasonic guided fetoscopy.
• Biochemical markers (triple test) MSAFP,
• unconj, E3 HCG.
• Amniocentesis.
• Chorionic villous biopsy.
• Cordocentesis.
• Molecular genetics.

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Introduction cont

• During the antenatal care visits, the
  obstetrician is frequently faced by a common
  question regarding the presence or absence of
  C.F.A.
• Unfortunately many of the general obstetricians
  are not aware of the scientific background
  regarding the diagnosis of C.F.A.

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Scientific Background of CFA

• The obstetricians should be aware of
• 1. Clinical background.
• 2. Principles of Teratogenesis
• 3. Decision making after diagnosis.
• 4. At risk pregnancies.
• 5. Role of ultrasonic.

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Scientific Background of CFA cont

• The obstetricians should be aware of
• 6. Levels of ultrasonic scans.
• 7. Anomalies detected by sonar, DD.
• 8. Interpretation.
• 9. Report.
• 10. Prevention of
• cong anomalies.

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1. Clinical Background
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Causes of Congenital Fetal Anomalies

• Single gene disorders 20
• Chromosomal 5
• Environmental 10
• Drugs 3
• Infections 3
• Irradiation 1
• Others 3
• Multifactorial 65

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Parental Consanguinity

• Direct leading question is needed.
• Frequency of
• Autosomal recessive disorders.
• Multifactorial malformations.
• Need only detailed scanning for malformations.
• No indication for foetal chromosomal, DNA or
  biochemical analysis

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Alpha Fetoptn

• Oncofetal pl. ptn
• Increased maternal serum
• Error
• Idiopathic
• Wrong gest. Age
• Multiple pregnancy
• Hydatiform mole
• IUFD
• Anencephaly spina bifida
• Omphalocle
• Oesphageal atresia

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2. Principles of Teratogenesis
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Principles of Teratogenesis

• Susceptibility of the conceptus-
• 1.Geno type of the conceptus.
• 2. Developmental stage at time of exposure (
  zygote - embryo - fetus ).
• 3. Teratogenic agents.

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Principles of Teratogenesis cont

• Developmental stage
• Zygote (18 21 day) post conception (pc)
• (all or non rule)
• Embryonic (3 - 9w) p.c.
• (organogenesis)
• Fetal (after 9w) (Subtle functional disorder,
  IUGR, CNS abnormalities continue all prenatal
  postnatal life)

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Principles of Teratogenesis cont

• The final manifestations
• No effect to lethal (all - none) .
• Malformation ( poor formation ).
• Deformation (Unusual forces on normal).
• Disruption (Break down)
• IUGR.
• Functional.

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3. Decision Making After Diagnosis
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Decision making After Diagnosis CFA
Decision about
or

• Continuation termination of pregnancy.

• Foetal therapy.

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4. At Risk Pregnancies
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At Risk Pregnancies for Increased CFA

• History
• Mat. Age more than 35ys.
• Previous child with malformation.
• Prospective parent with malformations.
• Single gene disorders.
• Epilepsy.
• DM (insulin dependent).
• Repeated miscarriage.
• Exposure to teratogen.
• Spina bifida.

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At Risk Pregnancies CFA cont

• Exam
• Hydramnios or oligohydramnios
• Multiple pregnancies
• Threatened preterm labour ( breach)
• Congenital anomalies uterus (mech. Effect)
• Investigations
• Increased mat. Alphafetoptr
• Suspicious findings on routine sonar

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5. Role of Ultrasonic
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Role of US for Detection CFA

• 1. In the office
• Direct visualization of a structural defects e.g
  anencephaly.
• Demonstration of a pathology due to a defect
• Dilated stomach and duodenum (duod. Atrsia).
• Increased nuchal folds short femurs (Down
  syndrome).
• Ultrasonic markers of chromosomal abnormalities.

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Role of US for Detection CFA cont

• 2. In the hospital
• Ultrasonic - guided to obtain fetal tissues
• Amniocentesis.
• Fetoscopy.
• Chorionic villous biopsy.
• Cordocentesis.

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US Markers of Chromosomal Abnormalities

• (A) Polyhydramnios
• Gut atresia (oesph duod jejunal).
• Neurological (NTD).
• Neuromuscular (cong. Myotonia).
• Diaphragmatic hernia.

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US Markers of Chromosomal Abnormalities cont

• (B) Oligohydramnios
• Foetal urinary tract obstruction
• Foetal renal failure (bilat. Agenesis cystic
  dysplasia)
• IuGR.

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US Markers of Chromosomal Abnormalities cont

• (C) Increased nuchal translucency (at 1014 w)
• Down syndrome.
• Congenital Ht .defects.

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Role of TVS for Detection of CFA (before 10w)

• Advantage
• Early diagnosis ? option for early termination.
• Disadvantage
• Limitation by foetal position restricted
  maneuverability of probe.
• Normal first trimester embryological development
  mimic path. In second trimester e.g physiological
  ant. Wall hernia omphalocele.
• Grossly abn. Embryo may appear normal e.g
  anencephaly .

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6. Levels of Ultrasonic Scans
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Levels of US for Detection of Foetal Anomalies

• 1. Screening test (L1) from 18w
• Stick to classic sequencesNo missing of major
  anomalies.
• Number of foetuses.
• Longit, axis determination.
• Ht. Beating.
• Cephalometry gest. Age.
• Return to longit. lie (spine).
• T. Scan (A.C.- all spine femur ..)
• Placental localization.
• Interpretation.

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Levels of US for Detection of Foetal Anomalies
cont

• 2. Diagnostic test (L2)
• Only for high risk cases.
• Need highly qualified ultrasonographer.
• Need high resolution ultrasound.
• 3. 3D US
• Suspious after L2.
• Fetal therapy is indicated.

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7. Anomalies Detected by Sonar, DD.
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List of Anomalies Can Be Detected by Sonar

• Cranio spinal ( Anencephaly- spina bifida-
  hydrocephalus- anencephaly,).
• Foetal tumours (cystic hygroma- teratoma (neck)-
  neuroblastoma - neck swelling).
• G.I.T (omphalocele- umbilical hernia- diaph.
  Hernia- duod. Atesia- colonic obstruction.
• Urinary tract anomalies (obstructive uropathy-
  polycystic kidney renal agenesis - renal cysts).
• Limb Deformities (limb. Reduction abn- sk.
  Dysplasia).
• Cardiac anomalies (ASD-V.S.D- hypoplastic
  aorticarch - mitral atresia- cardiomyopthy

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Neural Tube Defects
1/3
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US Findings Suggestive of NTDs

• Anencephaly, hydranencephaly, and hydrocephalus
• Difficulty in getting BPD landmarks.
• Wavering midline or head.
• Lack of cranial contour.
• Complete absence of midline echo.
• Dilated ventricles.
• Small choroid plexus.
• Enlarged BPD or HC.
• Progression.

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US Findings Suggestive of NTDs cont

• Other neural tube defects
• Fish hook spine
• Widening of spinal region.
• Absence of vertical process.
• U or V shaped vertebral body
• Sac attached to spine or skull.
• Associated hydrocephaly.

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Hydrocephalus

• First half of pregnancy (17-24 ws)
• Not diagnosed on basis of increased head size.
• Dilated lateral ventricles (V/H greater than
  0.5).
• Late pregnancy
• Increased BPD HC.
• BPD exceeds 11.0 cm at term.
• The area of foetal head is echo free.
• Thickness of c. cortex (future prognosis)

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Hydrocephalus cont
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Anencephaly

• Absence of cranial vault (Acrania).
• Inability to determine BPD (absence of cranial
  vault by 12-14 weeks).
• Associated anomalies (spina bifida- meningocele -
  myelomeningocele).
• 100 mortality.
• DD (microcephaly- deephy engaged head).

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Spina Bifida

• Failure of closure of the neural tube (3-4w)
  resulting in exposed neural plate.
• Longit. Scan (distorted the normal tram- line
  appearance).
• Transverse scan (wide U shaped deformity
  instead of discrete circles).
• Sonar amniotic fluid AFP assay.
• Associated anomalies (hydrocephalus-encephalocele)
  .

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Encephalomeningocele

• Herniation of either meninges alone or brain and
  meninges via bony defect (mostly occipital
  midline).
• ILL - defined cystic mass in close proximity to
  the side or back of the foetal head.
• D.D. cystic hygroma - haemangioma- teratoma.

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Cardiac Anomalies
1/3
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Cardiac Anomalies

• Optimum time for exclusion 20w
• A) B-mode- four different view
• 1) transverse four chamber view
• (movement of two A-V. valves presence of 4
  chambers).
• 2) long axis left vent. View
• (continuity of the interventricular septum
  exclude VSD)

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Cardiac Anomalies cont

• 3) Short axis left vent. View
• (movement of foramen ovale flap in atrial
  septum).
• 4) An aortic arch view
• (following the aorta distally)
• - ductus arteriosis can be seen.
• - coarctation of aorta excluded.

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Cardiac Anomalies cont

• B) M-mode (need pediatric cardiologist)
• Nomograms for ventriculur chambers size, wall
  thickness diameter of valves etc.

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Cardiac Anomalies cont

• US evidence of pericardial effusion
• fluid accumulation (more at the apex of heart.).
• Decreased motion of the pericardium.
• Paradoxical motion of ventricular walls.
• US cardiomegly ( by cardio thoracic ratio C/T)
• Normally is constant in relation to gest age.
• If greater than 2 SD above mean (Suspect C.V.
  abnormality).

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OtherCFA
1/3
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Urinary Tract Anomalies
- Renal agenesis. - Obstructive uropathy. -
Congenital cystic disease of kidney.
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Renal Agenesis (potter syndrome)

• Absent renal echoes and absent ur bladder
• (identification of bladder exclude diagnosis of
  polycystic kid. renal agenesis).
• Oligohydramnios.
• Reduced foetal growth rate (BPD A.C).

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Obstructive Uropathy

• 3 levels-
• 1) Pelviureteric PUJO (most favorable)
• - Intermittent ?adequate amniotic fluid
  bladder fill and empty.
• - Enlarged renal pelvis (bilat).
• - Cortical thickness (??induce labor)
• 2)Urethral agenesis or stenosis
• - Absene of amniotic fluid.
• - Small kidneys dysplastic (Fatal)

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Obstructive Uropathy cont

• 3)Inbetween these two extremes
• Post. Or ureth. Valves intermittent ureth.
  Obstruction distended bladder.
• Oligohydramnios.
• Male foetuses (pulm.hypoplasia, Neonatal death).
• Fetal therapy ( intermittent catheterization)
• vesico amniotic shent

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Congenital Cystic Disease of Kidney

• Isolated renal cysts (DD PUJO.)
• isolated not communicating pelvis.
• Multicystic kidney (sequlae of obstructive
  uropthy).

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Congenital Cystic Disease of Kidney cont

• Infantile polycystic kidney disease
• Autosomal recessive (one in 4 recurrence).
• Bilat.
• Cysts ( Microscepic to macroscepic
  oligohydramnios)
• Adult polycystic kidney disease
• Autosmal dominant - parents kidneys should be
  scanned serially.
• Cysts normal amniotic fluid.
• Symptoms silent till 5 th decade.

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Renal Dysplasia (Polycystic Kidney).

• Multiple or single echo- free spaces at the level
  of foetal kidneys.
• Identification should start after (22ws).
• If bilateral (bladder not demonstrated- amniotic
  fluid vol decreased or absent).
• Meckels syndrome ( encephalocele- cleft
  palate-polydacty cong. Ht disease), may be
  associated.

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Gastrointestinal Disorders

• ?msafp- polyhydramnios-ABN. Ultrasound findings
  (L1).
• Bowel obstruction
• oesphogeal atresia (failur to identify stomoch
  bubble).
• Duodenal atresia (down syndrome)- double bubble.
  
• Jejunal atresia ?triple bubble.
• Small bowel obstruction- meconium ileus (
  cystic fibrosis).
• Large bowel obstruction (late in pregnancy).
• Volvulus (intermittent, polyhydramnos).
• Hirschsprung syndrome (rectum not visualized)

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Gastrointestinal Disorders cont

• Abdominal wall defects( physiological hernia
  till 14ws).
• 1) Omphalocele (lat. Abd. Folds fail to fuse)
• 2) Gastroschisis. (herniation lat. To umblicus
  spares rectus M.) ? cauliflwer mass.
• Diaphragmatic hernia (incomplete fusion of
  pleuro- peritoneual membrane)- more in left.

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Omphalaocle Gastroschisis

• Defects in the abdominal through which various
  abdominal contents protrude

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Diaphragmatic Hernia

• Stomach, colon, spleen? foetal chest.
• Intermittent.
• Suspicion cystic structure behind left atrium.
• Confirmed-
• - defect in diaphragm (bowel passing).
• - peristalsis in fetal chest.
• - Clueswan-neck bend in foetal descending
  aorta
• fetal surgery.
• 50 of neonate die from associated pulm
  hypoplasia (demonstrated by ?size of left v)- by
  M-mode.

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Duodenal Atresia

• Presence of two echo- free spaces (Double bubble
  sign) situated at the level occupied by the
  foetal stomach (the larger is dilated stomach).
• Identification after 30 weeks.
• Associated anomalies ( Downs - valvulus- oesph.
  atresia).

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Fetal Ascites

• Immunologic or non immunologic
• US abdominal scanning Echo- free areas, bet.
  Abd. Wall and viscera, present in all four abd.
  Quadrants (DD cyst).
• Hydrops foetalis (PL. thickness more than 5cm,
  low level echoes within Pl. substance- subcut.
  Edema- enlarged liver).

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Umbilical Cord

• Normally (Two arteries one vein).
• Single umbilical artery
• 80 ? normal fetus.
• 20 ? others abnormalities (urinary - Ht - GIT
  Ext. ear ? karyotyping is mandatory if
  abnormality present).
• Stricture
• I.U.G.R.
• Karyotyping

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Miscellaneous CFA
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8. Interpretation
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10 Commands for US Interpretation of CFA

• An excellent equipment.
• An excellent ultrasonographer.
• Awarence of normal foetal anatomy by sonar.
• Routine ultrasonic screening(L1) .
• L2 3D US (if there is indication).

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10 Commands for US Interpretation of CFA cont

• 6. Multiple scans (L TO)before decision.
• 7. Repeated sonars (weekly) before deciding an
  anomaly.
• 8. Associated anomalies should be looked for.
• 9. D.D for any anomaly should be known.
• 10. Think many times before writing the final
  report.

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9. Report
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US Report

• If no anomaly is seen by ultrasound
• The report should indicate that the result is not
  all- conclusive.
• One way of writing the report is as follows(
  None of the abnormalities which may be
  ultrasonically visualized are apparent at
  present).

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(10) Prevention of CFA
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Prevention of CFA

• Periconceptional folic acid.(a) No past H. (0.4
  mg / day).(b) Previous H (4 mg / day).
• 2. Avoidance of environmental factors (10)
  during organgenesis period

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Thank you
Prof. DR. MOHAMMAD EMAM
OB GYN, Mansoura Faculty of Medcine Mansoura
Integrated Fertility Center (MIFC) EGYPT Telfax
0020502319922 0020502312299 Email.
mae335_at_hotmail.com