J Paediatrics Child Health - 2022 - Garg - Relative Prevalence and Outcome of Fetal Posterior Fossa Abnormality

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doi:10.1111/jpc.16254
ORIGINAL ARTICLE
Relative prevalence and outcome of fetal posterior

fossa abnormality
Nikita Garg,1 Manisha Kumar ,2 Preeti Rai,3 Shivangi Shanker Srivastava,4 Amit Gupta 5
and
Subhasis Roy Chaudhary6
1
Department of Paediatrics, Southern Illinois University, Carbondale, Illinois, USA, Departments of 2Fetal Medicine Subdivision, Department of Obstetrics
and Gynecology, 3Pathology, 4Obstetrics and Gynecology, LHMC, 6Pediatric Surgery, KSCH, New Delhi and 5Department of Pediatric surgery, AIIMS, Bhopal,
India
Aim: To find out the relative incidence and outcome of posterior fossa abnormality (PFA) in terms of survival at birth until 2 years of age.
Methods: We conducted a prospective study; all fetuses diagnosed with posterior fossa abnormality were followed-up. The outcome was
observed with respect to survival, the presence of associated anomalies, the existence of developmental delay after a telephonic interview.
Results: Out of 2703 children with congenital anomalies, 921 (34.1%) had a central nervous system defect; 76 cases of PFA were fully followed.
Dandy–Walker malformation (DWM) was present in 50% (38/76), mega cisterna magna 18.4% (14/76), Blake pouch cyst 13.2% (10/76), vermian
hypoplasia (VH) 13.2% (10/76) and arachnoid cyst 5.2% (4/76). The diagnosis was possible before 20 weeks in only 12 (15.8%) cases. The mean
gestational age at delivery was 34.7 6.7 weeks. Associated anomalies were seen in 35/76 (46.1%) cases. A total of 35/76 (46.1%) survived after
2 years; there was developmental delay in 9.2% of cases.
Conclusion: There is a large variation in the outcome of PFA depending upon the type of anomaly. Associated anomalies are common in VH
and DWM, making their prognosis worse.
Key words: Blake pouch cyst; central nervous system anomaly; Dandy–Walker malformation; hypoplastic vermis; mega cisterna magna; poste-
rior fossa abnormality.
What is already known on this topic What this paper adds

1 Dandy Walker malformation is the commonest among all poste- 1 Associated anomalies are more commonly observed with Ver-
rior fossa abnormalities. mian hypoplasia and Dandy Walker Malformation.
2 Ventriculomegaly was the most commonly associated 2 Postnatal surgery was mostly performed for an associated
anomaly. anomaly.
3 Mega cisterna magna and Blake pouch cyst have good outcome. 3 Outcome of posterior fossa abnormality in the present study
population of a developing country was similar to outcome data
provided in literature from developed nations.
Fetal central nervous system anomalies are one the commonest cisterna magna is said to be enlarged if the measurement in the
antenatally detected major anomalies1,2; posterior fossa anoma- axial section exceeds 10 mm. The most commonly studied mal-
lies (PFAs) are understudied but an important component con- formations are Dandy–Walker malformation (DWM), mega cisterna
tributing to perinatal morbidity and mortality. magna (MCM), and posterior fossa malformations without cisterna
The PFAs range from normal variants to severe forms. In the magna enlargement, which includes arachnoid cyst, cerebellar
classification suggested by Malinger et al., it is divided into cystic hypoplasia, pontocerebellar hypoplasia, rhombencephalo-synapsis,
and non-cystic malformations.3 The abnormalities are further classi- vermian hypoplasia (VH).3
fied based on whether or not cisterna magna is enlarged. The Antenatal ultrasound is used for diagnosis. But, an early ante-
natal diagnosis is often very difficult as neuronal migration and
organisation takes place in late second trimester. It has been
Correspondence: Dr Manisha Kumar, Professor (OBGYN), Lady Hardinge
observed that cerebellar foliations and vermis fissures are formed
Medical College, Shahid Bhagat Singh Marg, New Delhi, Pin 110001,
as late as the fifth month of gestation, the primary fissure of the
India; email: manishaonly@gmail.com
vermis is identified only after 24 weeks of gestation.3 PFAs are
Conflict of interest: None declared. also known to be associated with other intracranial and extracra-
Accepted for publication 9 October 2022. nial anomalies that affect their prognosis.4–6
Journal of Paediatrics and Child Health 59 (2023) 107–115 107

© 2022 Paediatrics and Child Health Division (The Royal Australasian College of Physicians).
14401754, 2023, 1, Downloaded from https://onlinelibrary.wiley.com/doi/10.1111/jpc.16254 by Cochrane Netherlands, Wiley Online Library on [21/02/2023]. See the Terms and Conditions (https://onlinelibrary.wiley.com/terms-and-conditions) on Wiley Online Library for rules of use; OA articles are governed by the applicable Creative Commons License
Outcome of posterior fossa abnormality N Garg et al.
Fig. 1 The ultrasound and the

autopsy picture of brain showing cys-
tic dilation of the fourth ventricle
associated with hypoplasia of the cer-
ebellar vermis in 19-week fetus, find-
ings suggestive of Dandy–Walker
malformation.
Fig. 2 An apparent communication

between the cisterna magna and
fourth ventricle with hourglass
appearance on intracranial ultra-
sound, the autopsy picture confirmed
normal vermis and fastigium sugges-
tive of Blake pouch cyst.
108 Journal of Paediatrics and Child Health 59 (2023) 107–115

N Garg et al. Outcome of posterior fossa abnormality
There is a paucity of studies on the antenatal diagnosis and

follow-up of posterior fossa abnormality not only in developing
countries but also in developed nations. The abnormality of the
posterior fossa remains an enigma due to difficulty in the diagno-
sis, classification and developmental changes that take place later
in the gestation. PFA is an evolving area where not much is
known about its relative prevalence, associated anomalies, and
outcome after birth. Hence, the analysis would assist prospective
parents to make an informed decision about the pregnancy ter-
mination, associated physical and mental morbidity.
The study aimed to find the relative prevalence and outcome
of PFA in terms of survival at birth and until 2 years of age and
to provide clinicians with an understanding of its outcome so that
parents could be appropriately counselled.
Methods
This observational study was done after taking institute’s ethical
clearance. All women with antenatally diagnosed fetal central
nervous system anomalies for 10 years study period starting from
July 2012 were included in the study after informed consent. The
review ultrasound was done at the facility (Hitachi Aloka Pros-
ound Alpha 6). The axial trans-cerebellar view was used for mea-
surement of the cisterna magna (CM). The presence or absence
of cystic dilatation in posterior fossa was noted. The presence of
communication between the fourth ventricle and cisterna magna
was observed and an attempt to visualise the vermis was done in
the median sagittal plane. Achieving this plane was difficult on
transabdominal ultrasound, therefore later in the study
transvaginal approach or 3D multiplanar image was used.
Accordingly, the cases were classified as DWM, if the cystic dila-
tion of the fourth ventricle was associated with agenesis/
hypoplasia of the cerebellar vermis (Fig. 1). The term Dandy–
Walker variant was later replaced by Blake pouch cyst (BPC), it
appeared as an apparent communication between the cisterna
magna and fourth ventricle with normal vermis and fastigium
(Fig. 2). MCM was said to be present if the CM was enlarged with
no communication between the fourth ventricle and CM and the
Fig. 3 The axial view in intracranial ultrasound showing enlarged cis-
vermis was normal in size (Fig. 3). Arachnoid cyst was diagnosed
terna magna (CM) with no communication between the fourth ventricle
when the cyst was asymmetrically placed in the posterior fossa.
and CM and normal vermis in sagittal section on ultrasound, suggestive
Pontocerebellar hypoplasia was smaller than normal cerebellum
of mega cisterna magna.
together with flat or thin pons; rhombencephalosynapsis was
diagnosed as fusion of the cerebellar hemispheres together with
the antenatal findings were compared with the post-natal findings
different degrees of VH.3
on ultrasound or MRI whenever it was feasible.
After diagnosis, women underwent a targeted scan to take
A 2-year follow-up of all cases delivered up to June 2020 was
note of the other associated intracranial and extracranial
done, by telephonic consultation with the parents and noting
malformations. When the diagnosis of DWM, VH or multiple
their medical records, up to the age of 2 years. The outcome of
malformations was made at or before 20-week gestation, termi-
babies in terms of survival, any seizure disorders, any structural
nation of pregnancy was offered. Karyotype was offered in all
abnormalities which required additional medical attention was
cases. If the couple desired continuation of pregnancy or when-
asked and whether the baby underwent any surgery was also
ever the gestational age was more than 20 weeks, genetic and
sought. Questions regarding the developmental milestones
paediatric neurosurgery consultation was taken. Repeat ultra-
achieved within the expected time period were also inquired.
sound examinations were carried out to follow the evolution of
the anomaly. All subjects included in this study were delivered at
the institution. The women who delivered outside were considered
Results
lost to follow-up. All cases of abortion or stillbirth were examined
externally, the autopsy was done after the consent, all findings We conducted this study over a period of 10 years which
were confirmed, additional anomalies were noted. In live-born, included 2 years of follow-up after birth. There were a total of

Fig. 4 The flowchart shows the rela-

tive prevalence of different posterior
fossa anomalies using a simple
classification.
Table 1 Epidemiological profile and antenatal characteristics of cases with posterior fossa abnormality, diagnosed in the antenatal period (n = 76)
BPC,
DWM, MCM, n = 10 Vermian hypoplasia, Arachnoid cyst,
Variable Total, n = 76 n = 38 (50.0%) n = 14 (18.4%) (13.2%) n = 10 (13.2%) n = 4 (5.2%)
Maternal age in years, 25.9 3.6 (19–35) 25.6 3.3 (19–32) 26.6 (22–35) 24.9 (20–30) 26.8 (23–32) 26.3 (22–33)
mean SD (range)
Parity, mean SD (range) 1.0 1.1 (0–4) 0.84 (0–4) 1.00 (0–3) 1.30 (0–4) 1.12 (0–3) 1.0 (0–2)
Consanguinity, n (%) 4 (5.2%) 4 (5.2%) 0 0 0 0
Gestational age in weeks at 30.8 5.6 (19–40) 30.55 (19–40) 31.21 (22–37) 32.2 (19–36) 31.00 (23–40) 29 (22–37)
referral, mean SD (range)
Previous IUFD, n (%) 8 (10.5%) 3 (3.9%) 2 (2.6%) 1 (1.3%) 1 (1.3%) 0
Previous one or more abortions, 9 (11.8%) 6 (7.9%) 1 (1.3%) 2 (2.6%) 1 (1.3%) 0
n (%)
Multiple pregnancy, n (%) 2 (2.6%) 1 (1.3%) 1 (1.3%) 0 0 0
BPC, Blake pouch cyst; DWM, Dandy–Walker malformation; IUFD, Intra-uterine fetal death; MCM, mega cisterna magna.
1,03,962 deliveries conducted in the hospital during the first 25.9 3.6 years and their mean parity was one. There was con-
8 years, 2703 (2.6%) had antenatally diagnosed fetal structural sanguinity in 4/76 (5.2%) cases, all had DWM. A total of eight
defect. There were 921(34.1%) cases with central nervous system subjects (10.5%) had a history of intra-uterine death while nine
defect, out of which 86 (9.3%) had posterior fossa PFA, 10 cases (11.9%) had a history of one or more abortions previously. The
of PFA were lost to follow-up, 76 cases were fully followed. majority of the cases presented after 20-week gestation, the mean
There was a revision of the antenatal diagnosis in six cases, the gestational age at presentation was 30.8 5.6 weeks.
final diagnosis was made after delivery by ultrasound in all cases Table 2 gives a detailed description of the associated anomalies
and MRI in selected cases. There was DWM in 50% (38/76) of found in cases with posterior fossa abnormalities. The associated
them, making it the most common PFA, 18.4% (14/76) were systemic anomalies were found in 35/76 (46.1%) cases, most fre-
diagnosed as MCM, 13.2% (10/76) had BPC, 13.2% (10/76) had quently seen in VH (9/10 cases) and DWM (20/38), in cases with
either vermian or cerebellar hypoplasia and 5.2% (4/76) of them MCM, no associated anomaly was observed. CNS anomaly such
were diagnosed to have an arachnoid cyst (Fig. 4). as ventriculomegaly (14 cases) was most commonly associated
The associated baseline maternal characteristics are depicted in with PFA, followed by cardiac defects (6 cases). In 26 cases, mul-
Table 1. The mean age of the women included in the study was tiple systems were involved, the majority of them occurred with

N Garg et al.
Table 2 Associated anomalies with different types of posterior fossa abnormalities
MCM,
Total, n = 14
Malformation n = 76 DWM, n = 38 (50.0%) (18.4%) Vermian hypoplasia, n = 10 (13.2%) BPC, n = 10 (13.2%) Arachnoid cyst, n = 4 (5.2%)
Isolated 41 (53.9%) 18 (23.7%) 14 (18.4%) 1 (1.3%) 7 (9.2%) 1 (1.3%)
Journal of Paediatrics and Child Health 59 (2023) 107–115

malformation
Associated 35 (46.1%) 20 (26.3%) 0 9 (11.8%) 3 (3.9%) 3 (3.9)
malformations
Central nervous 13 (17.1%) VM (5, 6.6%) 0 VM with micrognathia (2, 2.6%) 0 VM with corneal clouding
system VM with short long bones (1, 1.3%) VM, ACC and TEV (1, 1.3%) (1, 1.3%)
VM, ACC (3, 3.9%)
Cardiovascular 6 (7.9%) VSD (4, 5.3%) 0 0 Cardiomegaly pericardial
system ASD (1, 1.3%) effusion (1, 1.3%)
Renal system 5 (6.6%) HDN (1, 1.3%) 0 HDN with VM (1, 1.3%) 0 HDN with CDH (1, 1.3%)
Dysplastic kidney (1, 1.3%) Unilateral MCK (1, 1.3%)
Gastro-intestinal 2 (2.6%) 0 0 Dilated Bowel with VM (1, 1.3%) TEF (1, 1.3%)
system
Chromosomal 2 (2.6%) Trisomy 18 1, 1.3%)) 0 0 Down syndrome (1, 1.3%)
abnormality
Cleft lip and 2 (2.6%) 1 (1.3%) 0 1 (1.3%) 0 0
palate
Syndromes 5 (6.6%) Fetal akinesia syndrome VM, cranio- 0 Pontocerebellar hypoplasia with 0 Short spine, polydactyly limb
synostosis, ecthyosis (1, 1.3%) rhombencephalo-synapsis, previous baby defect VATER (1, 1.3%)
affected, with contractures (1, 1.3%)
Goldston syndrome- PCK and DWM (1, Joubert syndrome (polydactyly,
1.3%) Encephalocele) (1, 1.3%)
ACC, agenesis of corpus callosum; ASD, atrial septal defect; BPC, Blake pouch cyst; CDH, congenital diaphragmatic hernia; DWM, Dandy–Walker malformation; HDN, hydronephrosis; MCk, multicystic
kidney; MCM, mega cisterna magna; PCK, polycystic kidney; TEF, tracheoesophageal fistula; TEV, Talipes Equino varus; VM, ventriculomegaly; VSD, ventricular septal defect.
Outcome of posterior fossa abnormality
111
Fig. 5 A 19-week fetus with limb contractures, and rhombencephalosynapsis with apparently large cisterna magna on ultrasound. After abortion, there
were limb contractures, on internal autopsy, there was absence of vermis and hypoplastic pons, the histopathology of cerebellum and pons showed
sparse Purkinje cells suggestive of pontocerebellar hypoplasia.
VH. Though chromosomal analysis was offered in all cases, it was Table 3 illustrates the delivery details of the cases. In cases with
performed in 10 cases only, an abnormality was observed in MCM, VH and BPC, the pregnancy continued till term. The mean
2 cases. There was Down syndrome in one case with BPC gestational age at delivery was 34.7 6.73. The diagnosis was
(Fig. 2). There were 5 (6.6%) cases with clinically diagnosed syn- made before 20 weeks in 12 (15.8%) cases only, and they subse-
dromes (Table 2). quently opted for the termination of pregnancy. 21/76 (27.6%)
Out of five syndromal cases, two were associated with DWM, cases were stillborn. In the subsequent 2 years after birth, 9 more
the first, had contractures, ichthyosis, craniosynostosis, dysplastic children died, total 35/76 (46.1%) survived after 2 years. The
kidneys, the features were suggestive of fetal akinesia syndrome. PFA was found in boys more than girls in the ratio of 2:1. Post-
Another case of DWM had polycystic kidneys but there was no natal confirmation of defect by ultrasound or MRI was done in
encephalocele or polydactyly, therefore considered as Goldston 30/44 cases who were live-born. Fetal brain autopsy after preser-
syndrome. In the third case was non-consanguineous marriage, vation of the brain was done in 8/32 cases after consents. Devel-
presented at 19-week gestation with the history of intra-uterine opmental delay was observed in 9.2% cases, most commonly
fetal death and contractures in the baby in previous pregnancy. with DWM, surgery was done for correction of associated defects
The ultrasound showed limb contractures in fetus, in addition, in 9.2% cases. Developmental delay was noticed in 5/8 and 2/5
there was rhombencephalosynapsis with apparently large cisterna live cases with DWM and cerebellar hypoplasia, respectively.
magna. After the termination of pregnancy, the external exami- Among the clinically suspected syndromic cases, two underwent
nation showed contractures. At autopsy, there was absence of an abortion and two were stillborn. Only one syndromic case of
vermis and hypoplastic pons, the histopathology of cerebellum Joubert syndrome is alive, she is 3 years old at present, has hypo-
and pons showed sparse Purkinje cells suggestive of tonia and developmental delay(Fig. 6).
pontocerebellar hypoplasia (Fig. 5). The fourth case came at
28-week gestation with consanguinity. On ultrasound done at
Discussion
our centre, there was polydactyly with apparently large CM, and
VH in addition, the features suggestive of molar tooth sign were The study highlights the clinical details and outcome of a large
also present. After delivery at term, an additional finding of small cohort of antenatally diagnosed PFA cases from a tertiary care
1.5 cm parietal encephalocele was also present, there was associ- centre using a simple classification system. It adds to the data
ated hypotonia and the MRI confirmed molar tooth sign features regarding the prevalence and outcome of PFA such as BPC,
were suggestive of Joubert syndrome (Fig. 6). One case with MCM and VH arachnoid cyst, which has been less studied. The
arachnoid cyst was aborted at 19 weeks, due to multiple defects. anomalies associated with all subtypes of PFA have been docu-
After birth, the autopsy confirmed short spine, polydactyly, left mented. It also brings into account the challenges faced in the
lower-limb defect and tracheoesophageal fistula with bilateral management of such disorders in a developing country, espe-
multicystic kidney observed, the findings were suggestive of cially, as posterior fossa abnormalities encompass a wide spec-
VATER syndrome. trum of entities, and are associated with myriads of controversies

Fig. 6 The ultrasound and MRI

showing features suggestive of molar
tooth sign. After birth baby had poly-
dactyly, small encephalocele and
hypotonia, the features were sugges-
tive of Joubert syndrome. MRI, mag-
netic resonance imaging.
regarding their nomenclature and classification. During the was higher in this cohort (10.5%) compared to 2.6% in the
course of the study, not only the nomenclatures but also the way normal population.7
of the examination changed. As VH was diagnosed after 20 weeks, the pregnancy termina-
Consanguineous marriage has been a traditional practice in tion was not possible under Indian law hence, the mean gestation
many communities around the world. They have a higher of delivery was beyond 37 weeks. In cases with MCM and BPC,
prevalence in southern states of India with an incidence of the pregnancy was continued till term due to the late diagnosis
20–60%.4 The incidence of consanguinity in the study popula- and benign nature of the condition. Ghali et al., in their study,
tion was 5.2%, therefore, it did not impact the occurrence of also observed that MCM was diagnosed at significantly later ges-
PFA. Similarly, in the study by Ghali et al., no increased inci- tational ages than DWC or BPC.5 In our study, the PFA was more
dence of consanguinity was observed in their PFA cohort.5 commonly seen in boys compared to girls, similar findings have
Most of the cases in the study were young and primiparous. been noted in other studies also.5,8,9
The incidence of previous abortion in cases was similar to the Half of the cases of PFA had DWM, followed by MCM in
background risk of 20% seen in the normal population.6 nearly one-fifth of them, Arachnoid cyst was the rarest. Previous
However, the incidence of previous intra-uterine fetal death studies on PFA have likewise found that DWM is the most

commonest among all PFA.5,10–12 PFA can be considered as a
Operated for tongue tie

global developmental abnormality as the associated anomalies
1.37 1.03 (0.5–2.8)

Arachnoid cyst,
were seen in almost half of the cases, in previous studies, it has

n = 4 (5.2%)
29 (22–37)
(1, 1.3%)
All males
been observed in 54–83%cases of DWC.9,13 Associated anomalies
1 (1.3%)
1 (1.3%)
2 (2.6%)
2 (2.6%)
1 (1.3%)
1 (1.3%)
0
were seen in 9 out of 10 cases of VH; therefore, a targeted scan to
look for other associated malformation must be performed in the
case of PFA. In the present study, the incidence of chromosomal
abnormality appears low as the karyotype was done in very few
cases. Ventriculomegaly was the most common association which
oesophageal fistula (1, 1.3%)

has been observed in other studies also.10 Other authors have
Operated for trachea-

BPC, n = 10 (13.2%)
2.7 0.53 (4.0–3.0)
reported a high incidence ranging from 16.3 to 29%.14,15

37.11 (23–41)
There was a great disparity in the outcome of cases depending

1 (1.3%)
2 (2.6%)
7 (9.2%)
3 (3.9%)
7 (9.2%)
1:1
upon the type of abnormality, While MCM, and BPC had a good
0
0 outcome, in terms of survival and no developmental delay in

those who survived till 2 years of age. The cases with DWM
underwent maximum abortion and stillbirth. Less than half of
them were delivered live and among them, almost half survived
till 2 years, and among those who survived over half had devel-
Vermian/cerebellar hypoplasia,
Surgery done for cleft lip and
opmental delay. Only half of the cases with VH were alive after
2 years, further half of those who survived, were found to have
2.6 1.42(2.2–3.0)
Seizures (1, 1.3%)
palate (1, 1.3%)

n = 10 (13.2%)
developmental delay. Apart from the type of anomaly, the out-

38.11 (20–41)
2 (2.6%)
1 (1.3%)
7 (9.2%)
2 (2.6%)
2 (2.6%)
5 (6.6%)
2 (2.6%)
come also depended upon the presence of an associated defect,

3:1
The delivery details of different types of posterior fossa anomalies and their outcome at birth and until 2 years of life
with the outcome being better in those with isolated PFA. Akin
to other studies, in our cohort also, DWM was more commonly
associated with other anomalies and also had the worse prognosis
while MCM was least associated with other anomalies and had
the most favourable prognosis.5,8,16
The developmental delay was associated with PFA in 9.2%
3.0 0.56 (2.6–
n = 14 (18.4%)
38.09 (35–40)
cases, it was seen in DWM and VH cases only and not with BPC,
14 (18.4%)
14 (18.4%)
2 (2.6%)
MCM and arachnoid cyst. All cases without developmental delay

MCM,
4.0)
5:2
0
0
0
0
were isolated PFA. Surgery was mostly done for an associated

anomaly. In a systematic review by Antonio et al., it was observed
that, the overall rate of abnormal neurodevelopmental outcome
BPC, Blake pouch cyst; DWM, Dandy–Walker malformation; MCM, mega cisterna magna.
Surgery for encephalocele
in children with a prenatal diagnosis of DWM was 58.2% and

DWM, n = 38 (50. 0%)
1.25 0.88 (0.4–2.7)
varied from 0 to 100%. In those with MCM, the rate of abnormal

31.83 (19–40)
neurodevelopmental outcomes was 13.8% with a range of 0–

16 (21.0%)
14 (18.4%)
(1, 1.3%)
8 (10.5%)
8 (10.5%)
2 (2.6%)
6 (7.9%)
5 (6.6%)
50%. There was no significant association between BPC and the

2:1
occurrence of abnormal neurodevelopmental delay, the occur-

rence of abnormal neurodevelopmental delay in children with a
prenatal diagnosis of VH was 30.7% with the range of 0–100%;
however, there were fewer studies on VH.17
The strength of our study was that it was a large, prospective
Total, n = 76
34.7 6.73
1.75 1.0
12 (15.8%)
20 (26.3%)
44 (57.9%)
11 (14.5%)
35 (46.1%)
(0.4–4.0)
9 (11.8%)
(19–41)
7 (9.2%)
6 (7.9%)
study involving antenatal and post-natal follow-up of cases of PFA,

2:1
about which there is paucity of data in the developed as well as

developing countries. The major limitation was that a
questionnaire-based follow-up and neurological examination of the
babies were not done. Another weakness could be that the follow-
up was for 2 years only, though the increase in the length of the
Gestational age at delivery in weeks,
Surgery/management done in those
follow-up could have increased the possibility of confounding vari-

ables like the environmental factors to bias the results.
Developmental delay present
Died within 2 years of birth
Route of delivery- LSCS
Outcome after 2 years
Conclusion
mean SD (range)
mean SD (range)
Delivered live, n (%)
Alive after 2 years

Birthweight in kg,
Male/female ratio
Abortion, n (%)
The present study throws light on the outcome of cases of PFAs,

Stillbirth, n (%)
not only at birth but at the end of 2 years. The findings show that
surviving
Table 3
their outcome in the present study situation is not far from the
Details
outcome data provided in literature from developed nations. It

raises concerns about the policy regarding ultrasound to be done

before 20 weeks of pregnancy as posterior fossa abnormality 8 Long A, Moran P, Robson S. Outcome of fetal cerebral posterior fossa
which develops later and tends to be missed. anomalies. Prenat. Diagn. 2006; 26: 707–10.
9 Klein O, Pierre-Kahn A, Boddaert N, Parisot D, Brunelle F. Dandy-
Walker malformation: Prenatal diagnosis and prognosis. Childs Nerv.
Acknowledgement Syst. 2003; 19: 484–9.
10 Ecker JL, Shipp TD, Bromley B, Benacerraf B. The sonographic diagno-
The authors are grateful to WHO SEARO for supporting the sis of Dandy-Walker and Dandy-Walker variant: Associated findings
research. and outcomes. Prenat. Diagn. 2000; 20: 328–32.
11 Harper T, Fordham LA, Wolfe HM. The fetal Dandy-Walker complex:
Associated anomalies, perinatal outcome and postnatal imaging.
Fetal Diagn. Ther. 2007; 22: 277–81.
References 12 Has R, Ermis H, Yüksel A et al. Dandy-Walker malformation: A review
of 78 cases diagnosed by prenatal sonography. Fetal Diagn. Ther.
1 Vaknin Z, Lahat Y, Barel O et al. Termination of pregnancy due to fetal abnor-
2004; 19: 342–7.
malities performed after 23 weeks’ gestation: Analysis of indications in
13 Forzano F, Mansour S, Ierullo A, Homfray T, Thilaganathan B. Poste-
144 cases from a single medical center. Fetal Diagn. Ther. 2009; 25: 291–6.
rior fossa malformation in fetuses: A report of 56 further cases and a
2 Kumar M, Sharma S, Bhagat M et al. Postnatal outcome of congenital
review of the literature. Prenat. Diagn. 2007; 27: 495–501.
anomalies in low resource setting. Prenat. Diagn. 2013; 33: 983–9.
14 Salihu HM, Kornosky JL, Druschel CM. Dandy-Walker syndrome, asso-
3 Malinger G, Lev D, Lerman-Sagie T. The fetal cerebellum. Pitfalls in
ciated anomalies and survival through infancy: A population- based
diagnosis and management. Prenat. Diagn. 2009; 29: 372–80.
study. Fetal Diagn. Ther. 2008; 24: 155–60.
4 Bhasin MK, Nag S. Incidence of consanguinity and its effects on fertil-
15 Ulm B, Ulm MR, Deutinger J, Bernaschek G. Dandy-Walker malforma-
ity and morbidity in Indian region: A reappraisal. J. Hum. Ecol. 1994;
tion diagnosed before 21 weeks of gestation: Associated mal-
3: 161–263.
formations and chromosomal abnormalities. Ultrasound Obstet.
5 Ghali R, Reidy K, Fink AM, Palma-Dias R. Perinatal and short-term neo-
Gynecol. 1997; 10: 167–70.
natal outcomes of posterior fossa anomalies. Fetal Diagn. Ther. 2014;
16 Nyberg DA, Mahony BS, Hegge FN, Hickok D, Luthy DA, Kapur R.
35: 108–17.
Enlarged cisterna magna and the Dandy-Walker malformation: Factors
6 Mills JL, Simpson JL, Driscoll SG et al. Incidence of spontaneous abor-
associated with chromosome abnormalities. Obstet. Gynecol. 1991;
tion among normal women and insulin-dependent diabetic women
77: 436–42.
whose pregnancies were identified within 21 days of conception.
17 D’Antonio F, Khalil A, Garel C et al. Systematic review and meta-
N. Engl. J. Med. 1988; 319: 1617–23.
analysis of isolated posterior fossa malformations on prenatal imag-
7 Kanavi JV, Shobha G, Kavita G. Incidence and risk factors for intrauter-
ing (part 2): Neurodevelopmental outcome. Ultrasound Obstet.
ine foetal demise: A retrospective study in a tertiary care centre in
Gynecol. 2016; 48: 28–37.
India. Int. J. Pregnancy Child Birth 2017; 2: 33–6.


J Paediatrics Child Health - 2022 - Garg - Relative Prevalence and Outcome of Fetal Posterior Fossa Abnormality

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14401754, 2023, 1, Downloaded from https://onlinelibrary.wiley.com/doi/10.1111/jpc.16254 by Cochrane Netherlands, Wiley Online Library on [21/02/2023].

Relative prevalence and outcome of fetal posterior

What is already known on this topic What this paper adds

Journal of Paediatrics and Child Health 59 (2023) 107–115 107

Fig. 1 The ultrasound and the

Fig. 2 An apparent communication

108 Journal of Paediatrics and Child Health 59 (2023) 107–115

There is a paucity of studies on the antenatal diagnosis and

Journal of Paediatrics and Child Health 59 (2023) 107–115 109

Fig. 4 The ﬂowchart shows the rela-

110 Journal of Paediatrics and Child Health 59 (2023) 107–115

Table 2 Associated anomalies with different types of posterior fossa abnormalities

Isolated 41 (53.9%) 18 (23.7%) 14 (18.4%) 1 (1.3%) 7 (9.2%) 1 (1.3%)

Journal of Paediatrics and Child Health 59 (2023) 107–115

112 Journal of Paediatrics and Child Health 59 (2023) 107–115

Fig. 6 The ultrasound and MRI

Journal of Paediatrics and Child Health 59 (2023) 107–115 113

commonest among all PFA.5,10–12 PFA can be considered as a

Operated for tongue tie

1.37 1.03 (0.5–2.8)

were seen in almost half of the cases, in previous studies, it has

oesophageal ﬁstula (1, 1.3%)

Operated for trachea-

2.7 0.53 (4.0–3.0)

reported a high incidence ranging from 16.3 to 29%.14,15

There was a great disparity in the outcome of cases depending

0 outcome, in terms of survival and no developmental delay in

Surgery done for cleft lip and

Seizures (1, 1.3%)

palate (1, 1.3%)

developmental delay. Apart from the type of anomaly, the out-

come also depended upon the presence of an associated defect,

MCM and arachnoid cyst. All cases without developmental delay

were isolated PFA. Surgery was mostly done for an associated

in children with a prenatal diagnosis of DWM was 58.2% and

1.25 0.88 (0.4–2.7)

varied from 0 to 100%. In those with MCM, the rate of abnormal

neurodevelopmental outcomes was 13.8% with a range of 0–

50%. There was no signiﬁcant association between BPC and the

occurrence of abnormal neurodevelopmental delay, the occur-

study involving antenatal and post-natal follow-up of cases of PFA,

about which there is paucity of data in the developed as well as

Surgery/management done in those

follow-up could have increased the possibility of confounding vari-

Outcome after 2 years

Alive after 2 years

The present study throws light on the outcome of cases of PFAs,

outcome data provided in literature from developed nations. It

114 Journal of Paediatrics and Child Health 59 (2023) 107–115

Journal of Paediatrics and Child Health 59 (2023) 107–115 115

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1.37 1.03 (0.5–2.8)

2.7 0.53 (4.0–3.0)

1.25 0.88 (0.4–2.7)