11/09/2018

João Fraga, Ana Catarina Lai, Catarina Cerdeira, Maria Beatriz Pimentão, RuiAlmeida, Helder Moreira, Vânia Almeida, Carlos Faria, Raquel Pina

Retrospective evaluation of central nervous system defects in fetal autopsies and comparison with prenatal diagnosis

Disclosure

The authors have no conflit of interests.

Objectives

Methods

Results

Conclusions

Central nervous system defects (CNSD) are the most common group of malformations detected prenatally

This study pretend:

To demonstrate CNSD of our institution

To evaluate concordance between prenatal studyand postmortem findings

Objectives

Methods

Results

Conclusions

2005 Centro Hospitalar e Universitário de Coimbra 2016

Autopsies of fetuses: 1372

Categories

1. Anencephaly

2. Myelomeningocele/Encephalocele/Arnold-Chiari defect type II

3. Holoprosencephaly

4. Agenesis of corpus callosum

5. Dandy-Walker malformation

6. Neuronal migration defect

7. Isolated hydrocephalus

8. Without imagiological evaluation

9. Imagiological study with non-CNS anomalies

AutopsyImagiology

?

Objectives

Methods

Results

Conclusions

Cardiopulmonary

Upper GI

Lower GI

GU

Encephalon

Extraction examination Post fixation reexamination

Case 1

Objectives

Methods

Results

Conclusions

92 females (51%)

84 males (47%)

To demonstrate CNSD of our institution

Central nervous system defects

180 fetuses4 indeterminated genre (2%)

Maternal age was 30,53 years old (range 15 - 45)

Gestational age was 20,72 weeks (range 11 – 36)

Mean

Medical termination of pregnancy – 178Fetal death - 2

To demonstrate CNSD of our institution

1. Anencephaly 20%

2. Myelomeningocele

/ Encephalocele /Arnold-Chiari defect type II

32%

7. Isolated hydrocephal

us 1%

8. Without ultrasound 1%

Prenatal diagnosisObjectives

Methods

Results

Conclusions

1. Anencephaly 20%

7. Isolated hydrocephalus 1%

0. Impossible to study CNS 1%

Fetal autopsy

(n = 36)

(n = 63)

(n = 12)

(n = 2) (n = 2)

(n = 36)

(n = 58)

(n = 14) (n = 16)

(n = 3)

(n = 2)

2. Myelomeningocele

/ Encephalocele /Arnold-Chiari defect type II

32%

To demonstrate CNSD of our institution

Objectives

Methods

Results

Conclusions

#

Non-CNS anomalies Fetal autopsy

1 Anamnios Ag. Corpus callosum

2 Pielectasy Ag. Corpus callosum

3 Trissomy 18 Ag. Corpus callosum

4 Trissomy 21 Ag. Corpus callosum

5 Crom. 7 alt. Ag. Corpus callosum

6 Triploidy Neuronal migration def.

7 Crom. 22 + Y duplications

Ag. Corpus callosum

8 Trissomy 18 Ag. Corpus callosum

9 Trissomy 21 Ag. Corpus callosum

10 Trissomy 18 Mielom./A-C. Def. II

Prenatal diagnosis

#Non-CNS

anomalies Fetal autopsy

11 Anamnios Ag. Corpus callosum

12 Trissomy 21 Neuronal migration def.

13 Trissomy 13 Holoprosencephaly

14 Onfalocele Holoprosencephaly

15 Ectopia cordis Holoprosencephaly

16 Trissomy 18 Mielom./A-C. Def. II

17 Trissomy 18 Mielom./A-C. Def. II

18 Oligoamnios Ag. Corpus callosum

19 Abdomial wall defect

Mielom./A-C. Def. II

20 Oligoamnios Dandy-Walker malf.

Objectives

Methods

Results

Conclusions

To demonstrate CNSD of our institution

1. Anencephaly 20%

2. Mielomeningocele

/ Arnold-Chiari defect type II

35%

Fetal autopsy

2. 52%

3. 2%

4. 27%

5. 13%

Associated hydrocephalus27% (n = 48)

Objectives

Methods

Results

Conclusions

To demonstrate CNSD of our institution

Other associations

1. Anencephaly

Rachischisis 1

Iniencephaly 1

2. Mielomenin

gocele / Arnold-Chiari II

Cerebellum hipoplasia 3

Agenesis of corpus callosum 3

Heterotopy 1

Diastematomiely 1

Rachischisis 1

Choroid plexus cysts 1

Subaracnoid hemorragy 1

Other associations

3.Holoprosencephaly

Agenesis of corpus callosum 3

Polimicrogiria 1

4. Agenesis of corpus callosum

Cerebellum hipoplasia 2

Polimicrogiria 1

Choroid plexus cysts/papiloma

3

Subaracnoid hemorragy 1

5. Dandy-Walker malformation

Ø

6. Neuronal migration defects

Heterotopy 1

Subaracnoid hemorragy 1

7. Isolated hydrocephalus

Heterotopy 1

Other associations

Objectives

Methods

Results

Conclusions

To demonstrate CNSD of our institution

Case 3Case 2

To evaluate concordance between prenatal ultrasound and postmortem findings

Objectives

Methods

Results

Conclusions

AutopsyImagiology

Cohen's kappa coefficient

• Without imagiological description• non-CNSD• severe maceration

(n=24)

(95% Confidence Interval, 0,9601-1), p<0,0005

-

SPSS Statistics 17.0 (SPSS Inc., Chicago, IL)

= n= 156

Objectives

Methods

Results

Conclusions

This study pretended:

To demonstrate CNSD ofour institution

To evaluate concordance between prenatalultrasound and postmortem findings+

K=0.9832 - Good agreement between prenatal ecography and autopsy

Poor timing of imagiological evaluation can be an important factor in failing to detect abnormalities

Neural tube defects is the most common group of anomalies

Anencephaly (most common isolated NTD) + “Herniation group”

Hydrocephalus - the “tip of the iceberg” for CNSD

Non-CNSD cases – majority associated to genetic anomalies*Agenesis of Corpus Callosum*holoprosencephaphy

Thank You