KELAINAN BAWAANKELAINAN BAWAAN

DEPT.OBSTETRI DAN GINEKOLOGIFK-USU

2007

IntroductionIntroductionIntroductionIntroductionIncidence of major cong. Anomalies (CFA):Incidence of major cong. Anomalies (CFA):Incidence of major cong. Anomalies (CFA):Incidence of major cong. Anomalies (CFA):• 2.5% of total births (1/3 neural tube & conge.Ht1/3).

ICSI 5 6 % of total births• ICSI 5-6 % of total births.• Consanguinity 4%.• 20% of S.B. & early neonatal death • 15% of infant death in first year (Now 5% o a t deat st yea ( o

ranked second after birth injuries)

I t d tiI t d tiIntroduction Introduction cont…

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

I t d tiI t d tiIntroduction Introduction cont…

• During the antenatal care visits, the obstetrician is frequently faced by a q y ycommon question regarding the presence or absence of C.F.A.p

• Unfortunately many of the general obstetricians are not aware of theobstetricians are not aware of the scientific background regarding the diagnosis of C F Adiagnosis of C.F.A.

Scientific Background of CFAScientific Background of CFA

The obstetricians should be aware of:The obstetricians should be aware of:1 Clinical background1. Clinical background.2. Principles of Teratogenesis3. Decision making after diagnosis.4. At risk pregnancies.p g5. Role of ultrasonic.

Scientific Background of CFAScientific Background of CFAScientific Background of CFA Scientific Background of CFA cont…

The obstetricians should be aware of:The obstetricians should be aware of:6. Levels of ultrasonic scans.7. Anomalies detected by sonar, DD.7. Anomalies detected by sonar, DD.8. Interpretation.9. Report. 10. Prevention of10. Prevention of cong anomalies.

11. Clinical. Clinical11. Clinical . Clinical BackgroundBackgroundBackgroundBackground

Causes of Congenital FetalCauses of Congenital FetalCauses of Congenital Fetal Causes of Congenital Fetal Anomalies Anomalies

• Single gene disorders 20%20%• Chromosomal 5%5%Chromosomal 5%5%• Environmental 10%10%

D 3%3%–Drugs 3%3%– Infections 3%3%

Irradiation 1%1%– Irradiation 1%1%–Others 3%3%

• Multifactorial 65%65%• Multifactorial 65%65%

Parental ConsanguinityParental ConsanguinityParental ConsanguinityParental Consanguinity

• Direct leading question is needed.•• Frequency of:Frequency of:q yq y

•• Autosomal recessive disorders.Autosomal recessive disorders.•• Multifactorial malformations.Multifactorial malformations.

•• Need only:Need only: detailed scanning for malformations.

•• No indication forNo indication for : foetal chromosomal, DNA or biochemical analysisDNA or biochemical analysis

Al hAl h F t tF t tAlpha Alpha –– FetoptnFetoptn• Oncofetal pl. ptn • Increased maternal serum

ErrorError–– Error Error –– Idiopathic Idiopathic –– Wrong gest. AgeWrong gest. Age–– Multiple pregnancyMultiple pregnancy–– Hydatiform mole Hydatiform mole –– IUFDIUFDIUFDIUFD–– Anencephaly Anencephaly –– spina bifidaspina bifida–– OmphalocleOmphalocle

Oesphageal atresiaOesphageal atresia–– Oesphageal atresiaOesphageal atresia

22 Principles ofPrinciples of22. Principles of . Principles of TeratogenesisTeratogenesisgg

P i i l f T t iP i i l f T t iPrinciples of TeratogenesisPrinciples of Teratogenesis

Susceptibility of the conceptus:-1.Geno type of the conceptus.2 Developmental stage at time of2. Developmental stage at time of exposure ( zygote - embryo - fetus ).3. Teratogenic agents.

P i i l f T t iP i i l f T t iPrinciples of Teratogenesis Principles of Teratogenesis cont…

D l t l tDevelopmental stage:• Zygote (18 – 21 day) post conception (pc)

(all or non rule)(all or non rule)

• Embryonic (3 - 9w) p.c.y ( ) p(organogenesis)

• Fetal (after 9w) (Subtle functional disorder, ( ) ( ,IUGR, CNS abnormalities “continue all prenatal + postnatal life”)

P i i l f T t iP i i l f T t iPrinciples of Teratogenesis Principles of Teratogenesis cont…

The final manifestations:The final manifestations:• No effect to lethal (all - none) .No effect to lethal (all none) .• Malformation ( poor formation ).• Deformation (Unusual forces on• Deformation (Unusual forces on

normal).Disruption (Break down)• Disruption (Break down)

• IUGR.• Functional.

33 D i iD i i33. Decision . Decision MakingMakingMaking Making AfterAfterAfter After

DiagnosisDiagnosisgg

Decision making AfterDecision making AfterDecision making After Decision making After Diagnosis CFADiagnosis CFA

Decision about:oror• Continuation termination of of

pregnancy

• Foetal therapy

pregnancy.

• Foetal therapy.

44 At RiskAt Risk44. At Risk . At Risk PregnanciesPregnanciesgg

At Risk Pregnancies for At Risk Pregnancies for ggIncreased CFAIncreased CFA

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

At Risk Pregnancies CFA At Risk Pregnancies CFA cont…

Exam:Exam:– Hydramnios or oligohydramnios– Multiple pregnancies

Threatened preterm labour (+ breach)– Threatened preterm labour (+ breach) – Congenital anomalies uterus (mech. Effect)

Investigations:Investigations:Investigations:Investigations:– Increased mat. Alphafetoptr

Suspicious findings on routine sonar– Suspicious findings on routine sonar

55 Role ofRole of55. . Role of Role of UltrasonicUltrasonic

Role of US forRole of US forRole of US for Role of US for Detection CFA Detection CFA

1. In the office:Di t i li ti f t t lDi t i li ti f t t l–– Direct visualization of a structural Direct visualization of a structural defects e.g anencephaly.defects e.g anencephaly.

–– Demonstration of a pathology due to aDemonstration of a pathology due to aDemonstration of a pathology due to a Demonstration of a pathology due to a defect:defect:

•• Dilated stomach and duodenum (duod. Dilated stomach and duodenum (duod. Atrsia).Atrsia).

•• Increased nuchal folds & short femurs Increased nuchal folds & short femurs (Down syndrome).(Down syndrome).( y )( y )

–– Ultrasonic markers of chromosomal Ultrasonic markers of chromosomal abnormalities.abnormalities.

Role of US forRole of US forRole of US for Role of US for Detection CFA Detection CFA cont…

22. In the hospital:. In the hospital:Ultrasonic Ultrasonic -- guided to obtain guided to obtain

fetal tissues:fetal tissues:–– Amniocentesis.Amniocentesis.–– FetoscopyFetoscopyFetoscopy.Fetoscopy.–– Chorionic villous biopsyChorionic villous biopsy.

Cordocentesis– Cordocentesis.

US Markers of Chromosomal US Markers of Chromosomal US a e s o C o oso aUS a e s o C o oso aAbnormalities Abnormalities

(A)(A) PolyhydramniosPolyhydramnios ::– Gut atresia (oesph – duod – jejunal).– Neurological (NTDNTD).g ( )– Neuromuscular (cong. Myotonia).

Diaphragmatic hernia– Diaphragmatic hernia.

US Markers of Chromosomal US Markers of Chromosomal US a e s o C o oso aUS a e s o C o oso aAbnormalities Abnormalities cont…

(B) Oligohydramnios:F t l i t t b t ti– Foetal urinary tract obstruction

– Foetal renal failure (bilat. Agenesis cystic dysplasia)

– IUGR.

US Markers of Chromosomal US Markers of Chromosomal US a e s o C o oso aUS a e s o C o oso aAbnormalities Abnormalities cont…

(C) Increased nuchal translucency (at 10–14 w):translucency (at 10–14 w):

• Down syndrome.• Congenital Ht .defects.

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

• Advantage:Advantage:• Early diagnosis → option for early

termination.• Disadvantage:

• Limitation by foetal position + restricted y pmaneuverability of probe.

• Normal first trimester embryological d l t i i th I ddevelopment mimic path. In second trimester e.g physiological ant. Wall hernia & omphalocele.& p

• Grossly abn. Embryo may appear normal e.g anencephaly .

6 Levels of6. Levels of Ul iUltrasonic

ScansScans

Levels of US for Detection of Levels of US for Detection of Foetal Anomalies Foetal Anomalies

1 Screening test (L1) from 18w:1. Screening test (L1) from 18w:–– Stick to classic sequences=No missing of Stick to classic sequences=No missing of

major anomaliesmajor anomaliesmajor anomalies.major anomalies.• Number of foetuses.• Longit, axis determination.g ,• Ht. Beating.• Cephalometry & gest. Age.• Return to longit. lie (spine).• T. Scan (A.C.- all spine… femur ..)• Placental localization.• Interpretation.

Levels of US for Detection of Levels of US for Detection of Foetal Anomalies Foetal Anomalies cont…

2. Diagnostic test (L2):– Only for high risk cases.Only for high risk cases.– Need highly qualified

ultrasonographer.g p– Need high resolution ultrasound.

3. 3D US:3. 3D US:– Suspious after L2.– Fetal therapy is indicated.Fetal therapy is indicated.

7 Anomalies7. Anomalies D t t d bDetected by Sonar, DD.Sonar, DD.

List of Anomalies Can Be Detected List of Anomalies Can Be Detected by Sonarby Sonar

• Cranio spinal: ( Anencephaly- spina bifida-hydrocephalus- anencephaly,).Foetal tumours: (cystic hygroma teratoma (neck)• Foetal tumours: (cystic hygroma- teratoma (neck)-neuroblastoma - neck swelling).

• G.I.T: (omphalocele- umbilical hernia- diaph. ( p pHernia- duod. Atesia- colonic obstruction.

• Urinary tract anomalies: (obstructive uropathy-polycystic kidney renal agenesis renal cysts)polycystic kidney renal agenesis - renal cysts).

• Limb Deformities (limb. Reduction abn- sk. Dysplasia).y p )

• Cardiac anomalies (ASD-V.S.D- hypoplastic aorticarch - mitral atresia- cardiomyopthy

NeuralNeuralNeural Neural T bT bTube Tube

DefectsDefectsDefectsDefects

US Fi di S ti f NTDUS Fi di S ti f NTDUS Findings Suggestive of NTDsUS Findings Suggestive of NTDs

Anencephaly, hydranencephaly, and Anencephaly, hydranencephaly, and hydrocephalus:hydrocephalus:

•• Difficulty in getting BPD landmarks.Difficulty in getting BPD landmarks.•• Wavering midline or head.Wavering midline or head.•• Lack of cranial contour.Lack of cranial contour.•• Complete absence of midline echoComplete absence of midline echo.•• Dilated ventricles.Dilated ventricles.•• Small choroid plexusSmall choroid plexus.•• Enlarged BPD or HC.Enlarged BPD or HC.•• Progression.Progression.

US Findings Suggestive of NTDsUS Findings Suggestive of NTDsUS Findings Suggestive of NTDs US Findings Suggestive of NTDs cont…cont…

Other neural tube defects:Other neural tube defects:•• Fish hook spineFish hook spineFish hook spineFish hook spine•• Widening of spinal region.Widening of spinal region.•• Absence of vertical processAbsence of vertical process•• Absence of vertical process.Absence of vertical process.•• U or V shaped vertebral bodyU or V shaped vertebral body

Sac attached to spine or sk llSac attached to spine or sk ll•• Sac attached to spine or skull.Sac attached to spine or skull.•• Associated hydrocephaly.Associated hydrocephaly.

H d h lH d h lHydrocephalusHydrocephalus•• First half of pregnancy (First half of pregnancy (1717--24 24 ws):ws):

• Not diagnosed on basis of increased head size• Not diagnosed on basis of increased head size.• Dilated lateral ventricles (V/H greater than V/H greater than 00..55).

•• Late pregnancy:Late pregnancy:•• Late pregnancy:Late pregnancy:• Increased BPD & HC.• BPD exceeds 11 0 cm at termBPD exceeds 11.0 cm at term.• The area of foetal head is echo free.• Thickness of c. cortex (future prognosisfuture prognosis)( p gp g )

HydrocephalusHydrocephalus contcontHydrocephalusHydrocephalus cont…cont…

Anencephaly Anencephaly

• Absence of cranial vault (AcraniaAcrania).Inability to determine BPD (absence ofabsence of• Inability to determine BPD (absence of absence of cranial vault by cranial vault by 1212--14 14 weeksweeks).Associated anomalies (spina bifidaspina bifida• Associated anomalies (spina bifidaspina bifida--meningocele meningocele -- myelomeningocelemyelomeningocele).100% mortality• 100% mortality.

• DD: (microcephalymicrocephaly-- deephy engaged deephy engaged headhead)headhead).

Spina BifidaSpina BifidaSpina BifidaSpina Bifida• Failure of closure of the neural tube (33--Failure of closure of the neural tube (33--

4w4w) resulting in exposed neural plate.• Longit Scan (distorted the normal• Longit. Scan (distorted the normal

tram- line appearance).T ( id “U’’“U’’ h d• Transverse scan (wide “U’’“U’’ shaped deformity instead of discrete circles).

• Sonar + amniotic fluid AFP assay.• Associated anomalies (hydrocephalus-( y p

encephalocele).

EncephalomeningoceleEncephalomeningoceleEncephalomeningoceleEncephalomeningocele

• Herniation of either meninges alone or brain and meninges via bony defectbrain and meninges via bony defect (mostly occipital midlinemostly occipital midline).

• ILL - defined cystic mass in close• ILL - defined cystic mass in close proximity to the side or back of the foetal head.ead

• D.D. cystic hygroma - haemangioma-teratoma.

CardiacCardiac 11//33Cardiac Cardiac AnomaliesAnomalies 11//33AnomaliesAnomalies

Cardiac AnomaliesCardiac AnomaliesCardiac AnomaliesCardiac AnomaliesOptimum time for exclusion = 20wOptimum time for exclusion = 20w A) BB--mode:mode:-- four different view:

1) transverse four chamber view (movement of two Amovement of two A--V valves=V valves=(movement of two Amovement of two A--V. valves= V. valves= presence of presence of 4 4 chambers).chambers).2) long a is left ent Vie2) long axis left vent. View (continuity of the interventricular (continuity of the interventricular septum exclude VSD)septum exclude VSD)

C di A liC di A liCardiac Anomalies Cardiac Anomalies cont…

3) Short axis left vent. View(movement(movement ofof foramenforamen ovaleovale flapflap inin(movement(movement ofof foramenforamen ovaleovale flapflap ininatrialatrial septum)septum)..

44)) AnAn aorticaortic archarch viewview44)) AnAn aorticaortic archarch viewview(following the aorta distally)(following the aorta distally)

ductus arteriosis can be seen- ductus arteriosis can be seen.- coarctation of aorta excluded.

C di A liC di A liCardiac Anomalies Cardiac Anomalies cont…

B) M) M--mode (need pediatric cardiologist)mode (need pediatric cardiologist)B) M) M--mode (need pediatric cardiologist)mode (need pediatric cardiologist)• Nomograms for ventriculur chambers

size wall thickness diameter ofsize, wall thickness diameter of valves… etc.

Cardiac AnomaliesCardiac Anomalies cont

US id f i di l ff i

Cardiac Anomalies Cardiac Anomalies cont…

• US evidence of pericardial effusion:•• fluid accumulation (more at the apex of heart.).fluid accumulation (more at the apex of heart.).

Decreased motion of the pericardiumDecreased motion of the pericardium•• Decreased motion of the pericardium.Decreased motion of the pericardium.•• Paradoxical motion of ventricular walls.Paradoxical motion of ventricular walls.

• US cardiomegly ( by cardio thoracic ratioby cardio thoracic ratio• US cardiomegly ( by cardio thoracic ratio by cardio thoracic ratio C/TC/T):

Normally is constant in relation to gest age• Normally is constant in relation to gest age.• If greater than 2 SD above mean (Suspect C.V.

abnormality).y)

OtherOtherOtherOtherCFACFA

Urinary Tract AnomaliesUrinary Tract Anomalies

- Renal agenesisRenal agenesis.- Obstructive uropathy.

Congenital cystic disease of- Congenital cystic disease of kidney.

Renal Agenesis (potter Renal Agenesis (potter syndrome)syndrome)

• Absent renal echoes and absent ur bladder(identification(identification ofof bladderbladder excludeexclude diagnosisdiagnosis(( gg

ofof polycysticpolycystic kidkid.. && renalrenal agenesis)agenesis)..• OligohydramniosOligohydramnios.• Reduced foetal growth rate (BPDBPD && AA..CC).

Obstructive UropathyObstructive Uropathyp yp y3 3 levels:levels:--11) Pelviureteric “PUJO” (most favorable):) Pelviureteric “PUJO” (most favorable):

- Intermittent →adequate amniotic fluid +- Intermittent →adequate amniotic fluid + bladder fill and empty.

E l d l l i (bil t)- Enlarged renal pelvis (bilat).- Cortical thickness (↓→induce labor)

22)Urethral agenesis or stenosis:)Urethral agenesis or stenosis:- Absene of amniotic fluid.Absene of amniotic fluid.- Small kidneys & dysplastic (Fatal)

Ob t ti U thOb t ti U thObstructive Uropathy Obstructive Uropathy cont…

33)Inbetween)Inbetween thesethese twotwo extremesextremes::P tP t OO thth V lV l i t itt ti t itt t ththPostPost.. OrOr urethureth.. ValvesValves intermittentintermittent urethureth..

ObstructionObstruction ++ distendeddistended bladderbladder..Oli h d iOli h d i•• OligohydramniosOligohydramnios..

•• MaleMale foetusesfoetuses (pulm(pulm..hypoplasia,hypoplasia, NeonatalNeonataldeath)death)death)death)..

•• FetalFetal therapytherapy (( intermittentintermittent catheterization)catheterization)ii i tii ti h th t•• vesicovesico amnioticamniotic shentshent

Congenital Cystic Disease of Congenital Cystic Disease of g yg yKidney Kidney

•• Isolated renal cysts : (DD: PUJO.)Isolated renal cysts : (DD: PUJO.)i l t d t i ti l i– isolated + not communicating pelvis.

•• Multicystic kidney (sequlae of Multicystic kidney (sequlae of obstructive uropthy).obstructive uropthy).

Congenital Cystic Disease of Congenital Cystic Disease of g yg yKidney Kidney cont…

•• Infantile polycystic kidney disease: Infantile polycystic kidney disease: • Autosomal recessive (one in 4 recurrence).• Bilat.• Cysts ( Microscepic to macroscepic +

oligohydramnios)oligohydramnios)•• Adult polycystic kidney disease:Adult polycystic kidney disease:

• Autosmal dominant - parents kidneys should be p yscanned serially.

• Cysts + normal amniotic fluid.• Symptoms silent till 5 th decade• Symptoms silent till 5 th decade.

Renal Dysplasia (PolycysticRenal Dysplasia (PolycysticRenal Dysplasia (Polycystic Renal Dysplasia (Polycystic Kidney).Kidney).

• Multiple or single echo- free spaces atthe level of foetal kidneys.y

• Identification should start after (2222wsws).• If bilateral (bladderbladder notnot demonstrateddemonstrated--If bilateral (bladderbladder notnot demonstrateddemonstrated

amnioticamniotic fluidfluid volvol decreaseddecreased oror absentabsent).• Meckel’s syndrome ( encephaloceleencephalocele--Meckel s syndrome ( encephaloceleencephalocele

cleftcleft palatepalate--polydactypolydacty ++ congcong.. HtHtdiseasedisease), may be associated.), y

Gastrointestinal DisordersGastrointestinal DisordersGastrointestinal DisordersGastrointestinal Disorders

• ↑msafp polyhydramnios ABN Ultrasound findings• ↑msafp- polyhydramnios-ABN. Ultrasound findings (LL11).

• Bowel obstruction• oesphogeal atresia (failur to identify stomoch bubblefailur to identify stomoch bubble).• Duodenal atresia ((++down syndromedown syndrome)- double bubble. • Jejunal atresia →triple bubble• Jejunal atresia →triple bubble.• Small bowel obstruction:- meconium ileus (+ cystic (+ cystic

fibrosis).fibrosis).• Large bowel obstruction (late in pregnancylate in pregnancy).

–– Volvulus (intermittent, polyhydramnos).Volvulus (intermittent, polyhydramnos).–– Hirschsprung syndrome (rectum not visualized)Hirschsprung syndrome (rectum not visualized)Hirschsprung syndrome (rectum not visualized)Hirschsprung syndrome (rectum not visualized)

Gastrointestinal Disorders Gastrointestinal Disorders

• Abdominal wall defects:( physiologicalphysiological

cont…

• Abdominal wall defects:( physiological physiological hernia till hernia till 1414wsws).

11) Omphalocele (lat Abd Folds fail to) Omphalocele (lat Abd Folds fail to11) Omphalocele (lat. Abd. Folds fail to ) Omphalocele (lat. Abd. Folds fail to fuse)fuse)

22) Gastroschisis (herniation lat To) Gastroschisis (herniation lat To22) Gastroschisis. (herniation lat. To ) Gastroschisis. (herniation lat. To umblicus & spares rectus M.) umblicus & spares rectus M.) →→cauliflwer masscauliflwer masscauliflwer mass.cauliflwer mass.

• Diaphragmatic hernia (incomplete incomplete fusion of pleurofusion of pleuro-- peritoneualperitoneualfusion of pleurofusion of pleuro peritoneual peritoneual membranemembrane)- more in left.

Omphalaocle & GastroschisisOmphalaocle & GastroschisisOmphalaocle & Gastroschisis Omphalaocle & Gastroschisis • Defects in the abdominal through which

various abdominal contents protrude Gastroschisis Gastroschisis Omphalocle Omphalocle

--Not involve umbilicusNot involve umbilicus--NoNo

--Defects involves umbilicus Defects involves umbilicus --Umblical cord insertion (if amniotic fluid inUmblical cord insertion (if amniotic fluid in

pp

No No

--Defect small (Defect small (22..55cm)cm)

Umblical cord insertion (if amniotic fluid in Umblical cord insertion (if amniotic fluid in N. vol.)N. vol.)--Defect is large (C.S. usually) Defect is large (C.S. usually)

--NoNo--NoNo

-- contents (fluid contents (fluid –– filled Sac) filled Sac) --Other anomalies (organomegly Other anomalies (organomegly --cardiac).cardiac).

Diaphragmatic HerniaDiaphragmatic Herniap gp g• Stomach, colon, spleen→ foetal chest.

I t itt t• Intermittent.• Suspicion: cystic structure behind left atrium.

C fi d• Confirmed:--- defect in diaphragm (bowel passing).defect in diaphragm (bowel passing).

peristalsis in fetal chestperistalsis in fetal chest-- peristalsis in fetal chest.peristalsis in fetal chest.-- Clue:swanClue:swan--neck bend in foetal neck bend in foetal

descending aortadescending aortadescending aortadescending aorta• fetal surgery.• 50% of neonate die from associated pulm p

hypoplasia (demonstrateddemonstrated by by ↓↓size of left vsize of left v)-by M-mode.

D d l A iD d l A iDuodenal Atresia Duodenal Atresia • Presence of two echo- free spaces

(Double bubble signDouble bubble sign) situated at the ( gg )level occupied by the foetal stomach (the larger is dilated stomachthe larger is dilated stomach).( gg )

• Identification after 30 weeks.• Associated anomalies ( Down’sDown’s• Associated anomalies ( Down s Down s --

valvulusvalvulus-- oesph. atresiaoesph. atresia).

Fetal Ascites Fetal Ascites

ImmunologicImmunologic oror nonnon immunologicimmunologic::• US abdominal scanning: Echo- free• US abdominal scanning: Echo- free

areas, bet. Abd. Wall and viscera, present in all four abd Quadrants (DD cyst)in all four abd. Quadrants (DD cyst).

• Hydrops foetalis: (PL. thickness more th 5 l l l h ithi Plthan 5cm, low level echoes within Pl. substance- subcut. Edema- enlarged li )liver).

Umbilical CordUmbilical Cord•• Normally:Normally: (Two arteries & one vein).•• Single umbilical artery:Single umbilical artery:

• 80% → normal fetus.• 20 % → others abnormalities (urinary -

Ht - GIT & Ext. ear → karyotyping is mandatory if abnormality present).

•• Stricture:Stricture:• I.U.G.R.

K t i• Karyotyping

Mi ll CFAMi ll CFAMiscellaneous CFAMiscellaneous CFA

88. Interpretation. Interpretationpp

1010 Commands for USCommands for US10 10 Commands for US Commands for US Interpretation of CFAInterpretation of CFA

1. An excellent equipment.2. An excellent ultrasonographer.3 Awarence of normal foetal anatomy3. Awarence of normal foetal anatomy

by sonar.4 ( 1)4. Routine ultrasonic screening(L1) .5. L2 & 3D US (if there is indication).5. L2 & 3D US (if there is indication).

10 10 Commands for US Commands for US Interpretation of CFA Interpretation of CFA cont…

6. Multiple scans (L& T&OL& T&O)before decision.77.. RRepeated sonars (weeklyweekly) before deciding

an anomaly.8. Associated anomalies should be looked for.99.. D.DD.D for any anomaly should be known.10. Think many times before writing the final

report.p

99 ReportReport99. Report. Report

US ReportUS ReportUS ReportUS ReportIf l i bIf l i bIf no anomaly is seen by If no anomaly is seen by

ultrasound:ultrasound:• The report should indicate that the

result is not all- conclusive.• One way of writing the report is as

follows:( None of the abnormalitiesNone of the abnormalitiesfollows:( None of the abnormalities None of the abnormalities which may be ultrasonically visualized which may be ultrasonically visualized are apparent at presentare apparent at present).are apparent at presentare apparent at present).

((1010) ) P tiP tiPrevention Prevention

of CFAof CFAof CFAof CFA

Prevention of CFAPrevention of CFA

1. Periconceptional folic acid.(a) No past H. (0.4 mg / day).(a) No past H. (0.4 mg / day).(b) Previous H (4 mg / day).

2 Avoidance of environmental factors2. Avoidance of environmental factors (10%) during organgenesis period