Correctable Fetal Anomalies

Congenital malformations
 All pregnancies - 3-5% risk of major malformations
 10% - minor malformations
 With increasingly prenatal USG - identified more
 Advances in molecular technologies in field of genetics – exact
etiology of genetic disorders
 Phenotypic features can be identified prenatally
 Global incidence – 30 to 70/1000 live births
 India

India : accounts for 1/4th of neonatal deaths

globally
1/5th – CMF
5 million births in 2017 affected with CMF Dhammasagar Ujagare, Anita Kar . Birth defect mortality in India 1990–2017: estimates from the Global
Burden of Disease data. J Commun Genetics. 2021
Urinary Surgically correctable
Congenital heart defects anomalies
Gastroinstestinal
Abdominal all defects
Respiratory
Others
Team Approach

 Obstetrician
 Fetal Medicine Specialist
 Geneticist
 Neonatologist
 Pediatric Cardiologist
 Pediatric Surgeon
Moderator

Dr Seetha Ramamurthy Pal

 Dr Seetha Ramamurthy Pal
 Consultant Fetal Medicine & Obstetrics
Apollo Multi Speciality Hospital, Kolkata
• MBBS, DGO, MD from Mumbai
• FICOG, FRCOG, RCOG/RCR Diploma in Advanced Obstetric USG

* Clinical Secretary, Bengal Obs & Gyn Society 2022-23

* Chairperson , Genetics and Fetal Medicine Committee FOGSI 2023-25
* Fellow representative, AICC RCOG Eastern zone
* Hon Vice President, Society of Fetal Medicine, Kolkata Chapter
* Clinical Secretary ISOPARB Kolkata Chapter
* Examiner MRCOG Part 3 and Faculty, MRCOG Part 2/3 courses.
* Member, National Board Specialist Committee of Maternal and Fetal Medicine
* Peer Reviewer JOGI and Journal of Fetal Medicine
Experts…

Dr Ananya Basu

Dr Ankur Biswas
Dr Sunita Jha
Dr Sudip Saha
Dr Debashis Mitra
Case 1

Mrs IG, 25 year old, Primi

Low risk on Combined FTS.

Routine Anatomy scan at 19 weeks.

Both cases Left CDH

One had Liver herniation too

No other associated anomaly.

No Genetic screening done.

Both set of parents counseled thoroughly

First Continued with pregnancy

Second terminated
Failure of fusion

Primary defect
Issues..

 Associated with a high risk of neonatal death due to

respiratory failure and pulmonary hypertension

 Survivors may have serious health complications,

including gastrointestinal and respiratory problems,
orthopaedic deformations, and neurodevelopmental
delay
Genetics of CDH

 Vast occur sporadically

 Chromosomal anomalies
 Non chromosomal anomalies
 Incidence of Karyoptype abnormality- 34%
 Pallister Killian Syndrome- Tetrasomy 12p
 Fryns Syndrome-PIGN gene variant
Evaluating Prognostic features in CDH-

 Type

 Site/Size- Right worse?

 Time of diagnosis

 Associations

 Lung dimensions
 Rate of right CDH mortality is more important than left CDH.
Nevertheless after adjusting for lung-to-head-ratio and thoracic
herniation of liver, right CDH does not have a higher risk of mortality
than left CDH.
 In this large series comparing R to L-CDH patients, we
found no significant difference in mortality, use of ECMO,
or pulmonary complications.
Predictors of outcome.

 Lung size- LHR, o/e LHR

 Stomach position

 Liver position

 Defect size- MRI

LHR

Ratio of Lung area to HC

Axial plane at the level of 4CH

Lung contralateral to the CDH measured

Lung to be measured should ideally be close to the

transducer
 LHR

 Tracing/ Longest diameter- Tracing better

 Web based calculators- Perinatology.com

 LHR<1- Poor prognosis

 LHR- 1-1.4- ECMO often needed
 LHR> 1.4- Good prognosis
 o/e LHR

Classified by Deprest
<15%- 0% survival rate
15-25%- 20% survival rate
26-35%- 30-60%
36-45%- 75% survival rate
Antenatal Intervention

Depends on severity

Mild- Moderate- Serial Follow up

Severe- FETO

TOTAL Trial
 FETO- Fetoscopic Endotracheal
Occlusion
 Fetal lung growth is stimulated
by tracheal obstruction
 Technique involving endoluminal
insertion of an inflatable balloon,
with removal of the balloon a few
weeks later
 Insertion and removal can be
performed while the mother is
under local anesthesia.
 TOTAL Trial- Tracheal Occlusion To Accelerate
Lung Growth
 In fetuses with isolated severe congenital diaphragmatic hernia on the left side, FETO
performed at 27 to 29 weeks of gestation resulted in a significant benefit over expectant
care with respect to survival to discharge, and this benefit was sustained to 6 months of
age.
 FETO increased the risks of preterm, prelabor rupture of membranes and preterm birth.
Medical Management

 Not the answer but may be an precursor or adjuvant

 Glucocorticoids
 Retinoids
 PDE
Serial FU

o/e LHR- 40%

Delivered at 35 weeks- El CS
Neonatal issues…

Surgical issues
Post natal pictures
 Case 2

 Mrs AM, 33 year old Primi, Non Consaguineous couple

 Low risk on Combined FTS

 Referred at 17 weeks for pain

Findings…

 Unilateral choroid plexus cyst

 Implications…

 How do you counsel

Choroid plexus cyst
 Small, fluid-filled structure within the choroid of the
lateral ventricles of the fetal brain.
 On ultrasound, appear as echolucent cysts within the
echogenic choroid
 Association with Trisomy 18 - 30% to 50% of T18
fetuses have CPC
 The presence of a CPC does not alter the risk of T21 or
even T18
 Isolated with low risk- normal variant of no clinical
importance with no indication for follow-up ultrasound
imaging or postnatal evaluation
What next?

Look for other anomalies

 Findings..

 Does it change the scenario?

 Implications?

 What next
 Midline sac containing bowel and / or liver with umbilical cord at the
apex- 4 in 10,000 births
• Chromosomal defects, mainly trisomies 18 or 13, are found in 30-50%
of cases.
• Defects in other systems, mainly cardiac, are found in 30-50% of
cases.
• The long-term outcome of exomphalos as an isolated anomaly is
uncertain.
 Differential diagnosis-
Gastroschisis – Defect to the right of cord insertion, no
membrane covering, associated anomalies less, liver rare

 Role of early diagnosis

 Screening for structural defects
100% detectable rate
 Acrania, Anencephaly, Encephalocele
50-99 % detectable rate
 Cystic hygroma
 Gastroschisis, Omphalocoele
 Holoprosoncephaly
 Megacystis
 HLHS
1- 49% detectable rate
 Spina bifida, Hydrocephalous
 Skeletal dysplasia, Cleft lip/palate
 Dandy walker, Coarctation
0% detectable rate
 Corpus callosum agenesis
 Hydronephrosis, renal agenesis
 Duodenal atresia and bowel obstruction
• Invasive testing- which test

• KT/CMA/WES
 Invasive testing done
 Is there anything else to be ruled out

 Genetic syndromes, mainly Beckwith-Wiedemann syndrome, are found

in 10% of cases

 Can WES rule out BWS or any clues on USG?-

 Abnormal serum markers, Macrosomia, Macroglossia, hydramnios

 BW Syndrome- Imprinting disorder- Methylation studies -MS-MLPA

 Genetic associations…

 Trisomies
 Most common- Beckwith-Wiedemann syndrome
 Charge syndrome
 Carpenter syndrome
 OEIS Complex
 Pentalogy of Cantrell
 Marshall -Smith syndrome
 Meckel Gruber syndrome
Follow up…

 Fetal Echocardiography

 Ultrasound scans every 4 weeks to monitor fetal growth

and amniotic fluid.
 Best to monitor growth through estimation of fetal weight
by the Sieme formula which uses biparietal diameter,
occipitofrontal diameter and femur length, rather than
formulas using abdominal circumference.
 Pediatric surgery review
Delivery…

• Place: hospital with neonatal intensive care and pediatric

surgery.
• Time: 38 weeks. Earlier if there is evidence of poor
growth or fetal hypoxia.
• Method: Induction of labor aiming for vaginal delivery.
• Cesarean section reserved for obstetric indications, such
as breech presentation and for giant exomphalos (sac
containing >75% of liver) to avoid rupture and hemorrhage
Follow up

 Fetal Echo Normal

 Serial scans every 4 weeks.

 Normal growth velocity with resolution

of CP cyst

 El CS at 39 weeks
Post natal care

Immediate postnatal

Surgery- when and what

 Prognosis and Recurrence

• Isolated small / moderate exomphalos: survival >90%.- No

increased risk
• Isolated giant exomphalos: survival 80%.
• Other defect: depends on defect, e.g. trisomy 18 is lethal-
Recurrence risk 1%
• Part of Beckwith-Wiedemann syndrome: up to 50%
• Chromosome abnormalities occur in 53% of cases of exomphalos
with one or more additional anomalies and in 21% of cases that
are apparently isolated on ultrasound scan.
• The prognosis is poor when exomphalos occurs with other
anomalies.
• The prognosis is good in the absence of additional scan
detectable anomalies and a normal karyotype.
• Up to 19% of cases with an isolated exomphalos have Beckwith-
Wiedemann syndrome.
Case 3

 29 yr old P0

 Low risk at FTS

 Routine Anatomy scan at 21 weeks

What’s your diagnosis?

What next?

How will you counsel the patient?

 Impression:
 Unilateral (L) Renal Pelvis dilatation measuring 11mm in the
AP diameter, Rt Kidney and Bladder normal.

 No other structural defect seen. Growth and Liqour

normal.

 Recent classification of Urinary Tract Dilatation- UTD

The UTD classification system uses 6 ultrasound findings to
describe
the urinary tracts:
 anterior-posterior renal pelvic diameter (APRPD)
 calyceal dilation with distinction between central and peripheral
calyces postnatally
 renal parenchymal thickness
 renal parenchymal appearance
 bladder abnormalities
 ureteral abnormalities
Journal of Pediatric Urology 2014 10, 982-998DOI: (10.1016/j.jpurol.2014.10.002)
Journal of Pediatric Urology 2014 10, 982-998DOI: (10.1016/j.jpurol.2014.10.002)
Diagnosis: UTD A2-3

What next?

Any Role of NIPT/ Invasive testing?

 How will you counsel the patient?

 When will you call her next?

 Any consultation with the Paediatric surgeon? If Yes,

When?
Reassurance that structural defect possibly due
to PUJ Obstruction and will need serial scans to
monitor progression and may need intervention
after birth.

Anueploidy association possibly low as Isolated

defect with normal growth velocity
Journal of Pediatric Urology 2014 10, 982-998DOI: (10.1016/j.jpurol.2014.10.002)
Follow up: Recommendations

 UTD A1< 32 weeks,

- Follow up USG at 32 weeks

 If USG Normal- No pre/post natal FU necessary

 If Persistent UTD A1 or UTD A2-3- Evaluation after birth

Follow up: UTD A2-3 (Increased risk)

 Follow up US within 4-6 weeks of the initial diagnosis

 Subsequent assessment at the discretion of the clinician

 Prenatal consultation with a pediatric nephrologist in

situations of high risk
Prognosis?

Postnatal evaluation- When?

Post natal evaluation

 First postnatal USG done at least 48 hours after birth,

except when
- Oligohydramnios
- Urethral Obstruction
- Severe dilatation

 Neonates with Prenatal UTD, a second USG should be

performed even if the first postnatal USG is normal
UTD Natural course…..

 UTD A1- May regress, may remain static or progress to

UTD A2-3.
 Renal dysplasia in severe cases

 Timing of presentation
 T1- Poorer prognosis
 T2- Fav prognosis- 80% resolve
 T3- Higher chance of needing postnatal intervention
 Postnatal care

Decision based on
Duration of Antibiotics presence of bilateral or
unilateral hydronephrosis
Timing of VCUG
presence or absence of
hydroureter
Follow up- How long
presence of lower urinary tract
obstruction
Surgery- Type and timing
degree of hydronephrosis on
the initial postnatal US
El CS at 39 weeks

Postnatal surgery
Fetal Urinary Dilatation- Decision making

Identify the anomaly

Identify level of obstruction
Exclude associated anomalies
Assess maturity and amniotic fluid
Follow up Antenatal and postnatal scans
 Take to work messages
 Risk Stratification
 Early detection and accurate diagnosis
 Follow protocols and guidelines
 Rule out Genetic causes and syndromes
 Counseling- Positive approach and
documentation
 DO NOT TERMINATE
 Multidiscliplinary approach

Help Parents reach decisions concerning the form of

management that is best for them
Case 4

 Mrs NS
 P1, Prev Normal child
 FTS Screen- Low risk (1 in 5400)
 Anatomy scan- normal

 Amnio: QF-PCR Normal

 Refused CMA
 Absent Nasal Bone
 0.1% to 1.2% of euploid pregnancies.

 Ethnic variation - 9% of Afrocarribean population

 Limited data on the increased risk of Trisomy 21 with an isolated

absent or hypoplastic nasal bone.

 As an isolated marker, the positive LR is 23.

 Can be associated with other genetic syndromes; therefore, careful

evaluation of anatomy in the setting of this finding is warranted.
 The study confirms the association of AHNB with chromosomal disease.
 However, isolated AHNB with low risk in biochemical screening is rarely
associated with aneuploidy.
 In contrast, a significant no of fetuses yielded abnormal chromosome
results when AHNB was associated with high risk in biochemical
screening, additional aneuploidy markers or associated anomalies.
Follow up of CASE 1
• Amnio: QF-PCR Normal
• Refused CMA
 Returned at 25 weeks with pain
 USG: Hydramnios with Dilated
bowel loops- 9mm

Refused CMA again

Infection screen normal
Tentative diagnosis

Bowel atresia?
Bowel atresia

 Jejunal or ileal atresia occurs in about 1 per 5,000 births,

representing approximately 20% percent of small
intestinal atresia

 Chromosomal abnormalities are less common

 10% risk of cystic fibrosis

 Function depends on neuromuscular integrity and

mechanical patency
 Suspect..

 Challenging

 Ultrasound diagnosis -based on the demonstration of multiple

dilated loops of bowel
 > 15 mm in length
 >7 mm in diameter and mural thickness of >3 mm, with intense
peristalsis,
 Polyhydramnios
 In cases of perforation of the bowel- ascites and meconium
peritonitis
Jejunal/ileal atresia

 Jejunal- Small number of dilated bowel loops and more

polyhydramnios

 Ileal- Multiple dilated bowel loops

 Difficult to differentiate an isolated proximal atresia

from multiple atresia that involve both jejunum and ileum.
Predictive accuracy of ultrasound in detecting the
presence of SBA was poor, with a sensitivity of 50%
(95% CI 26.0-74.0) and a specificity of 70.59% (95%
CI 52.5-84.9).
Accuracy in detection 25-90%
In case of suspicion of SBA before the 3rd trimester,
an ultrasound after 32 weeks should be performed to
confirm the presence of both polyhydramnios and bowel
dilatation >17
 Role of MRI- Segments seen more clearly

 Familial pattern?-Genetic associations- familial case

of apple peel atresia, Stromme syndrome (ocular
abnormalities, microcepaly and jejunal atresia)

 Associated anomalies- Additional GI anomalies,

Gatroschisis, Placental vascular anomalies
Approach …

Detailed fetal evaluation

If isolated- Invasive testing?
Serial Ultrasound examination
Appropriate counseling for delivery with good
NICU and Surgical back up
Postnatal diagnosis with Corrective surgery
Postnatal

Good prognosis

Surgical correction- Primary repair best with end-

end anastomosis, adequate residual bowel length

Late postoperative complications

 Further FU

Repeat scan at 30 weeks- Same

findings

Came in with PPROM at 33 weeks

Em LSCS- Male baby, 1.9 kg

Post natal surgery

Proximal jejunal atresia
found 5-6 cm from DJ
flexure.

Resection anastomosis
done
 Screening for structural defects
100% detectable rate
 Acrania, Anencephaly, Encephalocele
50-99 % detectable rate
 Cystic hygroma
 Gastroschisis, Omphalocoele
 Holoprosoncephaly
 Megacystis
 HLHS
1- 49% detectable rate
 Spina bifida, Hydrocephalous
 Skeletal dysplasia, Cleft lip/palate
 Dandy walker, Coarctation
0% detectable rate
 Corpus callosum agenesis
 Hydronephrosis, renal agenesis
 Duodenal atresia and bowel obstruction
 Take to work messages
 Risk Stratification
 Early detection and accurate diagnosis
 Follow protocols and guidelines
 Rule out Genetic causes and syndromes
 Counseling- Positive approach and
documentation
 DO NOT TERMINATE
 Multidiscliplinary approach

Help Parents reach decisions concerning the form of

management that is best for them
Thank you