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

2. 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)

3. 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.

4. 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.

5. 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.

6. 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.

7. 1. Clinical Background

8. Causes of Congenital Fetal Anomalies
Single gene disorders 20%
Chromosomal 5%
Environmental 10%
Drugs 3%
Infections 3%
Irradiation 1%
Others 3%
Multifactorial %

9. 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

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

11. 2. Principles of Teratogenesis

12. 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.

13. 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”)

14. 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.

15. 3. Decision Making After Diagnosis

16. Decision about: Decision making After Diagnosis CFA
Continuation termination of pregnancy. or
Foetal therapy.

17. 4. At Risk Pregnancies

18. 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.

19. 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

20. 5. Role of Ultrasonic

21. 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.

22. Role of US for Detection CFA cont…
2. In the hospital:
Ultrasonic - guided to obtain fetal tissues:
Amniocentesis.
Fetoscopy.
Chorionic villous biopsy.
Cordocentesis.

23. US Markers of Chromosomal Abnormalities
(A) Polyhydramnios :
Gut atresia (oesph – duod – jejunal).
Neurological (NTD).
Neuromuscular (cong. Myotonia).
Diaphragmatic hernia.

24. US Markers of Chromosomal Abnormalities cont…
(B) Oligohydramnios:
Foetal urinary tract obstruction
Foetal renal failure (bilat. Agenesis cystic dysplasia)
IuGR.

25. US Markers of Chromosomal Abnormalities cont…
(C) Increased nuchal translucency (at 10–14 w):
Down syndrome.
Congenital Ht .defects.

26. 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 .

27. 6. Levels of Ultrasonic Scans

28. Levels of US for Detection of Foetal Anomalies
1. Screening test (L1) from 18w:
Stick to classic sequences=No 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.

29. 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.

30. 7. Anomalies Detected by Sonar, DD.

31. 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

32. 1/3
Neural Tube Defects

33. 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.

34. 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.

36. Hydrocephalus First half of pregnancy (17-24 ws): Late pregnancy:
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)

38. Hydrocephalus cont…

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

43. 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).

49. 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.

52. 1/3
Cardiac Anomalies

53. 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)

54. 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.

55. Cardiac Anomalies cont…
B) M-mode (need pediatric cardiologist)
Nomograms for ventriculur chambers size, wall thickness diameter of valves… etc.

56. 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).

59. Other CFA
1/3

60. Urinary Tract Anomalies
- Renal agenesis. - Obstructive uropathy. - Congenital cystic disease of kidney.

61. 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).

63. 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)

65. 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

66. Congenital Cystic Disease of Kidney
Isolated renal cysts : (DD: PUJO.)
isolated + not communicating pelvis.
Multicystic kidney (sequlae of obstructive uropthy).

69. 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.

70. 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).
Meckel’s syndrome ( encephalocele- cleft palate-polydacty + cong. Ht disease), may be associated.

72. 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)

73. 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.

76. Omphalaocle & Gastroschisis
Defects in the abdominal through which various abdominal contents protrude
Not involve umbilicus No
Defect small (2.5cm)
Defects involves umbilicus
Umblical cord insertion (if amniotic fluid in N. vol.)
Defect is large (C.S. usually)
contents (fluid – filled Sac)
Other anomalies (organomegly -cardiac).
Gastroschisis
Omphalocle

81. Diaphragmatic Hernia Stomach, colon, spleen foetal chest.
Intermittent.
Suspicion: cystic structure behind left atrium.
Confirmed:-
- defect in diaphragm (bowel passing).
- peristalsis in fetal chest.
- Clue:swan-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.

82. 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 ( Down’s - valvulus- oesph. atresia).

85. 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).

86. 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

89. Miscellaneous CFA

90. 8. Interpretation

91. 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).

92. 10 Commands for US Interpretation of CFA cont…
6. Multiple scans (L& T&O)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.

93. 9. Report

94. 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).

95. (10) Prevention of CFA

96. 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

97. Thank you Prof. DR. MOHAMMAD EMAM OB& GYN, Mansoura Faculty of Medcine
Mansoura Integrated Fertility Center (MIFC) EGYPT
Telfax & .