Dr.G.T.TANSEERA TABASSUM 2022

1. SOFT MARKERS OF
CHROMOSOMAL ANOMALIES
DR.G.T.TANSEERA
PAEDIATRICS PG

2. • ANTENATAL SOFT MARKERS ARE FETAL SONOGRAPHIC FINDINGS THAT ARE NOT
GENERALLY ABNORMALITIES AS SUCH BUT ARE INDICATIVE OF AN INCREASED
RISK OF FETAL ANEUPLOIDIC OR NONCHROMOSOMAL ABNORMALITIES

3. SOFT MARKERS
• INCREASED NUCHAL THICKNESS >6MM
• FETAL VENTRICULOMEGALY>10MM
• HYPOPLASTIC/ABSENT NASAL BONE
• ECHOGENIC INTRACARDIAC FOCI
• CHOROID PLEXUS CYST
• ECHOGENIC BOWEL
• SHORTENED FETAL LONG BONE
• ABERRANT RIGHT SUBCLAVIAN ARTERY
• FETAL PYELECTASIS
• SINGLE UMBILICAL ARTERY
• ENLARGED CISTERNA MAGNA

4. SOFT MARKERS OF UNDEFINED SIGNIFICANCE
• CLENCHED FISTS
• ROCKER BOTTOM FEET
• SANDAL GAP

6. NUCHAL FOLD
• NUCHAL FOLD IS A NORMAL SKIN FOLD SEEN AT THE BACK OF FETAL NECK
DURING SECOND TRIMESTER OF PREGNANCY
• INCREASED THICKNESS OF NUCHAL FOLD IS A SOFT MARKER ASSOCIATED WITH
MULTIPLE FETAL ANOMALIES.

7. ASSOCIATIONS
• DOWN’S SYNDROME
• TURNERS SYNDROME
• NOONAN SYNDROME
• KLIPPEL FEIL SYNDROME
• NORMAL VARIANT<1%

8. • ETIOLOGY OF INCREASED NUCHAL THICKNESS IS THE RESULT OF HYDROPS OR
LYMPHATIC OBSTRUCTION
• NUCHAL FOLD THICKNESS OF >6MM –ABNORMAL ,MEASURED N 18-22 WEEKS

11. VENTRICULOMEGALY
• FETAL VENTRICULOMEGALY REFERS TO THE PRESENCE OF DILATED CEREBRAL
VENTRICLE IN UTERO
• PREVALENCE-0.9%OF ALL PREGNANCIES
• MEASUREMENT SHOULD BE IN TRUE AXIAL PLANE AT THE ATRIA OF LATERAL
VENTRICLE AND GLOMUS OF CHOROID PLEXUS

12. • FETAL VENTRICULOMEGALY IS DEFINED AS
• >10MM ACROSS THE ATRIA OF POSTETIOR OR ANTERIOR HORN OF LATERAL
VENTRICLE AT ANY POINT OF GESTATION.
• ALTERNATIVELY,A SEPARATION OF >3MM OF CHOROID PLEXUS FROM THE
MEDIAL WALL OF LATERAL VENTRICLE

13. • MILD/BODERLINE-LATERAL VENTRICLE DIAMETER 10-12MM
• MODERATE VENTRICULOMEGALY -12.1-15MM
• SEVERE VENTRICULOMEGALY-LATERAL VENTRICLE DIAMETER >15MM

14. ASSOCIATION
• CROUZON SYNDROME
• APERT SYNDROME
• PFEIFER SYNDROME
• ACHONDROPLASIA
• OSTEOPETROSIS
• SOTOS SYNDROME

15. ABSENT NASAL BONE
• ASSESSED ON A MIDLINE SAGITTAL VIEW WITH ANGLE OF INSONATION CLOSE TO
45° OR 135°.
• NASAL BONE IS SEEN AS BRIGHT ECHOGENIC LINE SEEN AROUND 11-14 WKS
• SIGNIFICANCE-WHEN NASAL BONE IS ASSENT @11-12WKS,WHILE OTHER
ULTRASOUND MARKERS AND SERUM BIOCHEMISTRY IS NORMAL,FOLLOW UP
SCAN AFTER A WEEK IS SUGGESTED

17. • TRISOMY 21- NASAL BONE ASSENT IN 60-73%
• TRISOMY 18- 53-57%
• TRISOMY 13-32-45%
• TURNER SYNDROME-ABSENT IN 9%

18. HYPOPLASTIC NASAL BONE
• REFERS TO SONOGRAPHIC OBSERVATION WHERE FETAL NASAL BONE APPEARS
SMALLER BY VARYING DEGREE
• 0.5-1.2% OF NORMAL FETUSES HAVE HYPOPLASTIC NASAL BONE COMPARED TO
43-62% IN DOWN SYNDROME
• ASSOCIATION:
DOWN SYNDROME
FETAL WARFARIN SYNDROME

19. CHOROID PLEXUS CYST
• ANTENATAL CHOROID PLEXUS CYST ARE BENIGN AND OFTEN TRANSIENT
TYPICALLY RESULTING IN UTERO FROM AN INVOLUTION OF NEUROEPITHELIUM.
• PREVALENCE:2% OF PREGNANCIES
• ASSOCIATION
1. TRISOMY 18 -50%
1% IF NO OTHER ABNORMALITIES
4% IF THERE ARE OTHER ANOMALOUS FEATURES
2.TRISOMY 21
3.KLINFELTER SYNDROME
4.AICARDI SYNDROME

20. • SEEN AT THE LEVEL OF ATRIA INVOLVING LATERAL VENTRICLES.
• PROGNOSIS-GENERALLY DISAPPEAR BY 26-28WKS IN UTERO
• CHOROID PLEXUS CYST ARE OF CONCERNS IF CYSTS ARE
LARGE(>1CM),BILATERAL,MULTIPLE AND ASSOCIATED WITH STRUCTURAL
ABNORMALITIES WHEN MATERNAL AGE IS EQUALLY TO OR GREATER THAN
32YRS,OR IF MATERNAL SERUM RESULTS ARE ABNORMAL.
• CYSTS RESOLVE IN 3RD TRIMESTER AND NOT ASSOCIATED WITH ABNORMAL
CNS DEVELOPMENT.
• COMPLICATIONS-OBSTRUCTIVE HYDROCEPHALUS.

22. MEGA CISTERNA MAGNA
• NORMAL VARIANT CHARACTETISED BY TRULY FOCAL ENLARGEMENT OF CSF
FILLEF SUBARACHNOID SPACE IN INFERIOR AND POSTERIOR PORTIONS OF
POSTERIOR CRANIAL FOSSA
• OCCURS IN 1% OF ALL BRAIN IMAGED POSTNATALLY
• ASSOCIATION:
1. INFARCTION
2. INFECTION/INFLAMMATION
3. CHROMOSOMAL ABNORMALITIES-TRISOMY 18
ISOLATED CISTERNA MAGNA WITH NORMAL VENTRICLES-GOOD PROGNOSIS

23. SG-MEGA CISTERNA MAGNA REFERS TO ENLARGED RETROCEREBELLAR CSF
ACE
SUALLY>10MM
PTA MAY BE SEEN WITHIN A MEGA CISTERN MAGNA WHICH ARE BLAKE POUCH
ESTIGEAL REMNANTS.

24. SHORTENED FETAL LONG BONES
• CAN INVOLVE EITHER UPPER/LOWER LIMB
• ASSOCIATIONS-ASS WITH UNDERLYING SKELETAL DYSPLASIA
• SHORTENED FEMUR-FEMORAL LENGTH FALL BELOW 5TH CENTILE FOR GA.FL MEASURED WITH DIAPHYSIS LOCATED
HORIZONTALLY.
• ASSOCIATIONS-
1. TRISOMY 21
2. TRISOMY 22
3. FETAL SKELETAL DYSPLASIAS
4. FEMUR FIBULAR ULNA COMPLEX
5. IUGR

26. ECHOGENIC INTRACARDIAC FOCI
• PRESENT IN 4-5%OF NORMAL FETUSES
• REPRESENT MINERALIZATION WITHIN PAPILLARY MUSCLE.
• LOCATION-MOSTLY UNILATERAL M/C-L VENTRICLE
• ASSOCIATIONS:
• TRISOMY21(12%)
• TRISOMY 13
• BIVENTRICULAR EIF HAS A HIGHER RISK FOR ANEUPLOIDY

27. • ANTENATAL USG-SEEN AS BRIGHT ECHOGENIC FOCI WITHIN FETAL HEART ON FOUR
CHAMBER VIEW
• USUALLY SINGLE AND <3MM
• PROGNOSIS
• ISOLATED IN NORMAL PREGNANCY-BENIGN VARIANT
• HIGH RISK PREGNANCIES-INCREASED RISK OF DOWNS AND TRISOMY 13
• THE PRESENCE OF MULTIPLE/BILATERAL INC THE RISK
• USUALLY DISAPPEAR DURING 3RD TRIMESTER.

28. ECHOGENIC FETAL BOWEL
• SOFT MARKER FOR TRISOMY21.
• INCIDENCE -0.2-1.8%OF 2ND TRIMESTER FETUSES
• PATHOLOGY-LOSS OF WATER FROM MECONIUM OR INTRAAMNIOTIC
HEMORRHAGE WHICH IS SWALLOWED BY FETUSES.
• SEEN IN R LOWER QUADRANT OF FETUS

29. ASSOCIATIONS
• ISOLATED FINDING-NORMAL VARIANT IN 60-70%
• TRISOMY 21(15%)
• INTRAUTERINE CMV(15%),HERPES,PARVOVIRIUS
• AFTER AMNIOCENTESIS OR PLACENTAL ABRUPTION
• TRISOMY 18,13
• CYSTIC FIBROSIS(2-11%)
• IUGR5%
• IUFD ‘9X INCREASED RISK,IF SERUM AFP ARE ELEVATED.

30. • GR 0-ISOECHOIC TO LIVER
• GR1-MILDLY HYPERECHOIC TO LIVER OR <THAN BONE
• GR2-MODERATELY HYPERECHOIC COMPATRD TO LIVER OR AS ECHOGRNIC AS BONE
• GR3-MARKEDLY HYPERECHOIC OR GREATER THAN BONE.
• TREATMENT AND PROGNOSIS
• ISOLATED-NORMAL OUTCOME IN 75%
• RULE OUT OTHER ANOMALIES,REFER TO GENETIC COUNSELING, TOUCH
SEROLOGY,CF CARRIER TRSTINH

32. FETAL PYELECTASIS
• MALE PREDILECTION
• 2% OF ROUTINE 2ND TRIMESTER SCAN
• PATHOLOGY-FETAL PUJ
• FETAL VUJ
• POSTERIOR URETHRAL VALVE
• VESICOURETERIC REFLUX
• DUPLEX KIDNEY
• ASSOCIATIONS TRISOMY21

33. • USG-MEASURED AS AN AP MEASUREMENT OF RENAL PELVIS ON AN AXIAL PLANE
• ACCORDING TO STUDY,FETAL PYELECTASIS IS PRESENT IF APD MEASURES
• >4MM UPTO 28WKS
• >7MM AT OR AFTER 28WKS.
• PROGNOSIS-90% MILD CASES RESOLVE EITHER DURING PREGNANCY OR EARLY PP PERIOD.
• THE RISK OF POSTNATAL RENAL PATHOLOGY INC WITH
1. INCREASED DEGREE OF PELVIS DILATATION
2. IN UTERO PROGRESSION
3. B/L INVOLVEMENT

34. SINGLE UMBILICAL ARTERY
• CONGENITAL ABSENCE OF R OR L UMBILICAL ARTERY
• ABSENCE OF LEFT UA MORE COMMON(70%)
• PREVALENCE -0.4-1%
• PATHOLOGY-SECONDARY ATRESIA OR ATROPHY RATHER THAN PRIMARY
AGENESIS
• IN 65%-PRESENT IN ISOLATION

35. ASSOCIATION
• ISOLATION-INC INCIDENCE OF IUGR
• CHROMOSOMAL ANOMALIES
1. TRISOMY 21(12.8%)
2. TRISOMY 18(50%)
3. TRISOMY 13(25%)
• PERSISTENT R UMBILICAL VEIN
• CONGENITAL RENAL ANOMALIES- AGENESIS USUALLY ON SIDE WHERE ARTERY IS ASSENT
• SIRENOMELIA
• VELAMENTOUS INSERTION OF CORD
• COMPLEX CONGENITAL AND CHROMOSOMAL ANOMALIES PRESENT WHEN L UA IS ABSENT

36. • AN USG-2 VESSELS IN CORD
• SINGLE ARTERY IS OFTEN LARGE THAN NORMAL AND APPROACHES DIAMETER
OF VEIN
• ONLY ONE UA LATERAL TO BLADDER IN ITS COURSE TOWARDS UMBILICAL
CORD.

40. THANK YOU