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Diagnostic and Interventional Imaging (2013) 94, 433—437

ORIGINAL ARTICLE / Genito-urinary imaging

Polyhydramnios: A warning sign in the prenatal


ultrasound diagnosis of foetal malformation?
N. Kouamé a,∗, A.M. N’goan-Domoua a, Z. Nikiéma b,
A.N. Konan a, K.E. N’guessan c, A. Sétchéou a,
Z.O. Tra-Bi a, R.D. N’gbesso a, A.K. Kéita a

a
Radiology Department, Yopougon University Hospital, 21, BP 632, Abidjan, Cote d’Ivoire
b
Radiology Department, Souro-Sanou University Hospital, Bobo-Dioualasso, 01, BP 676,
Bobo-Dioulasso, Burkina Faso
c
Department of Obstetrics and Gynaecology, Treichville University Hospital, BP V3, Abidjan,
Cote d’Ivoire

KEYWORDS Abstract
Polyhydramnios; Purpose: To propose polyhydramnios seen during prenatal diagnosis as a warning sign of foetal
Foetal malformation; malformation.
Prenatal diagnosis; Patients and methods: A retrospective multicentre study over a three-year period carried out
Obstetric in Ivory Coast and Burkina Faso. We reviewed 3903 obstetric ultrasound reports. All cases
ultrasonography of foetal malformation and polyhydramnios were counted. The instances of foetal malforma-
tion associated with polyhydramnios were compared to those of foetal malformation without
polyhydramnios and to polyhydramnios only.
Results: A list of 72 cases of polyhydramnios was made (equating to 1.8%). In 55 cases (76.4%),
polyhydramnios was combined with foetal malformation. These were lethal abnormalities in
33 cases and non-lethal in 22 cases. In 17 cases, polyhydramnios was not associated with any
foetal malformations and in eight cases, foetal malformation was discovered in the absence
of polyhydramnios. Polyhydramnios had a positive predictive value of 76.4% for the presence
of foetal malformation. The negative predictive value was 99.8%. Sensitivity was 87.3% and
specificity was 99.5%.
Conclusion: Polyhydramnios is a highly sensitive and specific sign for prenatal diagnosis of
foetal malformation. If it is identified, then this should lead to a very careful search for foetal
malformation.
© 2013 Éditions françaises de radiologie. Published by Elsevier Masson SAS. All rights reserved.

∗ Corresponding author.
E-mail address: kngoran@yahoo.fr (N. Kouamé).

2211-5684/$ — see front matter © 2013 Éditions françaises de radiologie. Published by Elsevier Masson SAS. All rights reserved.
http://dx.doi.org/10.1016/j.diii.2013.01.002
434 N. Kouamé et al.

Ultrasonography has become a crucial investigation dur- place in Ivory Coast (Yopougon University Hospital, Nan-
ing pregnancy because it is harmless, easily available, and glé Clinic and Yamoussoukro Regional University Hospital)
inexpensive, and it has entered into the day-to-day practice and in Burkina Faso (Souro-Sanou University Hospital and
of specialists in reproductive health [1]. The investigation Saint Léopold Clinic in Bobo-Dioulasso). It involved reviewing
has different objectives depending on the stage of preg- reports from obstetric ultrasound scans carried out during
nancy. According to the literature, at least three ultrasound the study period in these different centres. We were inter-
scans should be carried out during a normal pregnancy [2]. ested in all cases of polyhydramnios and foetal malformation
The one carried out in the first trimester is diagnostic and detected on sonography during the second (2T) and third
for dating the pregnancy while the purpose of the one in the (3T) trimesters. The cases of polyhydramnios found together
third trimester is thought to be useful for establishing a prog- with foetal malformations were compared to those of iso-
nosis for vaginal delivery. Between these two, the second lated foetal malformations and to cases of polyhydramnios
trimester ultrasound scan is used to look for foetal malfor- only. We calculated the positive predictive value, the neg-
mations. However, it has not always proved easy to detect ative predictive value, the sensitivity, and the specificity
foetal malformations and a good number of these have of polyhydramnios in prenatally diagnosing foetal malfor-
remained unseen in spite of repeated ultrasound scans [3,4]. mations. The method proposed by Chamberlain et al. [9]
In these cases, the alpha-fetoprotein test, amniocentesis, or was used to identify polyhydramnios (Fig. 1), which involves
even magnetic resonance imaging are complementary inves- measuring the vertical diameter of the largest fluid pocket,
tigations that are needed and often requested in addition to as was the amniotic fluid index (AFI) used by Phelan et al.
sonography [5]. These additional investigations are expen- [10], which is based on the measurements of all four quad-
sive and are not always available in all countries. This means rants. Any pocket of amniotic fluid greater than or equal
that the morphology ultrasound scan remains the only effec- to 80 mm and/or any AFI greater than or equal to 250 mm
tive examination for prenatal screening of severe foetal was considered to be polyhydramnios. There was said to be
malformations (those that require medical termination of moderate polyhydramnios if the depth of the fluid pocket
pregnancy) or minor foetal abnormalities (for which the was below 160 mm and the AFI was below 350 mm. If found
parents will need to be psychologically prepared). For this to be in excess of these figures, polyhydramnios was con-
reason, it is important to simplify the protocol for the ultra- sidered to be severe (Fig. 1). Foetal malformations were
sound scan during pregnancy by establishing direct and/or classed as minor morphologic abnormalities (viable) and
indirect signs that should alert the sonographer to the pos- major malformations (lethal). Malformations seen in the
sibility of foetal malformation. One of these signs is, in our first trimester were excluded from our study because we
view, polyhydramnios. It is defined as an excess of amniotic were interested in cases in which first trimester sonogra-
fluid and there are a number of known causes. Furthermore, phy was either not carried out or was suboptimal in terms
its frequent association with foetal malformations has often of early screening for malformations, in contrast to the
been observed in our practice and in the literature [6—8]. good practice recommendations in Western nations [11,12].
The purpose of this article is to propose polyhydramnios Epidemiological data (age, sex, trimester of pregnancy),
as a warning sign of foetal malformation to be used in the the reason for the ultrasound scan, and the results that
sonographic prenatal diagnosis of these abnormalities. we made use of were marked on the sonogram reports.
The post-natal or post-medical termination of pregnancy
outcome was identified from the birth registers of the var-
Patients and methods ious maternity wards and the Neurosurgery and Paediatric
surgery departments of the hospitals involved. Data was
Our retrospective multicentre study was carried out over processed using the software packages Word and Epi-info
3 years (from January 2009 to December 2011). It took 6.0.

Figure 1. (a, b): severe polyhydramnios revealed using the method of Phelan et al. [10] (amniotic fluid index measurement = 671 mm) in
a 25-year-old patient in the second trimester of pregnancy.
Polyhydramnios and prenatal diagnosis of foetal malformation 435

Table 1 Distribution of cases of polyhydramnios according to their severity and the method by which amniotic fluid was
quantified.
Method Largest amniotic fluid pocket (Chamberlain) Phelan’s amniotic fluid index Total
Polyhydramnios Moderate (8—16 cm) Severe (≥ 16 cm) Moderate (25—35 cm) Severe (≥ 35 cm)
Number 9 51 4 8 72
Percentage 12.5 70.8 5.6 11.1 100

Results were 17 cases of polyhydramnios that were not associ-


ated with a foetal malformation and eight cases in which
Our results are summarised in Tables 1—3. a foetal malformation was discovered without being associ-
While the study was underway, 3903 obstetric ultra- ated with polyhydramnios (four cardiac abnormalities, one
sound scans were carried out in women in their second and omphalocele, two cases of cleft lip and palate, and one
third trimesters. Among these, 72 cases of polyhydramnios of achondroplasia). The positive predictive value of polyhy-
(equating to 1.8%) and 63 instances of foetal malformation dramnios for a foetal malformation was 76.4%. The negative
(1.6%) were identified. The mean age of the patients was predictive value was 99.8%. Sensitivity was 87.3% and speci-
23.6 years with extreme values of 19 and 40 years. These ficity was 99.5%. Because there had been no patient consent,
sonograms were conducted in the second trimester in 37 no medical termination of pregnancy was practised in the
cases (51.4%) and the third trimester in 35 cases (48.6%). In cases of major foetal malformation. There were 16 cases
60 of these cases (83.3%), polyhydramnios was determined (48.5%) of foetal death in utero, four cases (12.1%) of vagi-
using the Chamberlain method with a mean amniotic fluid nally delivered anencephalic neonates (Fig. 3) and one case
pocket depth of 157.8 mm. The Phelan method was only
used in 12 cases (16.7%). The mean of the AFI was 335 mm.
In 81.9% of cases, polyhydramnios was found to be severe,
and in 18.1% of cases, it was moderate. In 55 cases (76.4%),
polyhydramnios was associated with foetal malformation.
In 33 cases (60%), these were major foetal malformations,
while they were minor abnormalities in 22 cases (40%).
The major abnormalities included 32 cases of anencephaly
(Figs. 2 and 3) and one case of thanatophoric dysplasia.
The minor abnormalities were eight cases of myelomeningo-
cele, five cases of spina bifida, seven abdominal masses
(three renal masses, three cases of omphalocele, one case
of duodenal atresia) and two cases of hydrocephalus. There

Table 2 Distribution of foetal malformations according


to the severity of polyhydramnios.
Polyhydramnios Foetal malformation identified Figure 2. Same patient, ultrasound scan shows a severe foetal
malformation: anencephaly.
Number Percentage
Moderate 5 7.9
Severe 58 92.1
Total 63 100

Table 3 Significance of polyhydramnios in the prenatal


identification of foetal malformations.
Malformation No Total
malformation
Polyhydramnios 55 17 72
No 8 3823 3831
polyhydramnios
Total 63 3840 3903
Sensitivity: 55/63: 87.3%; PPV: 55/72: 76.4%; Specificity:
3823/3840: 99.5%; NPV: 3823/3831: 99.8%.
Figure 3. Anencephalic newborn delivered vaginally after the
mother refused medical termination of pregnancy.
436 N. Kouamé et al.

(3%) of a vaginally delivered neonate with thanatophoric cause in excess of 20% of foetal deaths. In our study, 48.5%
dysplasia. The other 12 cases of major foetal malforma- of the major foetal malformations led to in utero foetal
tion (36.4%) were lost to follow-up. All of the minor foetal death. In Israel, Golan et al. [8] identified a positive pre-
malformations identified were confirmed post-natally. The dictive value of 14.2%. Although this is a major difference,
neonates were managed in the Paediatric Surgery and Neu- the author did draw the attention of sonographers to the
rosurgery departments. association between polyhydramnios and congenital malfor-
mations. There appears to be a higher incidence of foetal
malformation associated with polyhydramnios in Africa in
Discussion contrast to that which is seen in developed countries due to
infectious diseases (rubella, toxoplasmosis etc.) and poverty
According to the literature, polyhydramnios complicates (folic acid supplements are not used and pregnancy is inade-
between 0.5 and 3% of pregnancies [13]. In our study, it quately monitored with sonography either not carried out at
was identified in 1.8% of cases. It is diagnosed by clini- all or only a single obstetric ultrasound scan in the second
cal examination and sonography. Clinically, there is a rapid or third trimester). This lack of first trimester sonography
increase in fundal height and tension of the uterine walls. explains the presence of neural tube defects identified in
On abdominal palpation, the fluid wave sign is seen. On the second and third trimesters of pregnancy in our study.
vaginal examination, the foetal head may present when sub- This difference could also be explained by the severity of
jected to movement [2]. There are several possible causes the cases of polyhydramnios found in our study. Accord-
of polyhydramnios as pregnancy progresses. These causes ing to the literature, the risk of foetal malformation is
are known, and include diabetes, rhesus isoimmunisation, directly correlated to the extent of polyhydramnios. In a
chromosome abnormalities, foetal anaemia, viral infections series of 105 cases of polyhydramnios, Damato et al. [16]
(toxoplasmosis, rubella, CMV, herpes etc.) and foetal mal- identified malformations in 63% of these but while the rate
formations [13]. The most serious of these causes is foetal was 50% when including women whose deepest fluid pocket
malformation, which can lead to psychological difficulties was between 8 and 9.5 cm, it rose to 88% when including
for the parents and perinatal morbidity/mortality or severe only cases of fluid pockets in excess of 16 cm. In our study,
psychomotor impairment in the child [14]. It is therefore 81.9% of the cases of polyhydramnios we saw were severe
necessary to carry out effective prenatal screening for these and the foetal malformations observed were neural tube
malformations, with a view to psychologically preparing par- defects (anencephaly, spina bifida, hydrocephalus etc.).
ents and managing minor abnormalities, as well as carrying Abnormalities of the central nervous system, according to
out medical termination of pregnancy in major foetal mal- the literature, are the most common cause of malformation
formations. However, checking for foetal malformations, encountered in polyhydramnios [7,17,18]. Excess amniotic
and especially minor abnormalities, is a difficult process that fluid is thought to be caused by fluid production through
requires a trained, qualified and, above all, highly focused the meninges, potentially combined with reduced loss of
technician. These criteria are not always met since, accord- amniotic fluid because the foetus has difficulty swallow-
ing to Lawrence et al. [3], 2 to 3% of neonates are born ing. In our study, the patients whose foetus had a major
with an abnormality that would have been detectable on abnormality refused medical termination of pregnancy and
sonography. Dashe et al. [4] found in their study that 11% 36.4% of them were lost to follow-up. This observation
of malformations were not detected on prenatal sonogra- shows that it is essential to offer suitable psychological
phy. A sign that is easier to detect on sonography and that management for women whose pregnancies present foetal
is often connected to foetal malformation is polyhydram- malformation [19]. This was not so for the population in our
nios. According to Cabrol et al. [13] sonography is the gold study.
standard examination for the positive diagnosis of polyhy-
dramnios. It consists of a subjective assessment (impression
that the foetus appears to be swimming) or an objective Conclusion
evaluation (depth of the largest amniotic fluid pocket or the
AFI). In our study, in 55 cases (76.4%), polyhydramnios was Foetal malformation may be rare (1.6% in our study), but
associated with foetal malformation. The positive predictive it is a sufficiently serious phenomenon to warrant pre-
value, negative predictive value, sensitivity, and specificity cise and early prenatal diagnosis. To this end, medical
for polyhydramnios when foetal malformation was present imaging now enhanced by the use of foetal MRI can com-
were all very high. Specifically, they were 76.4%, 99.8%, plement laboratory tests, while occupying a predominant
87.3% and 99.5% respectively. Our results are in agreement place in screening. Obstetric sonography is a dedicated
with those of Dashe et al. [4] who brought together a ret- routine examination. Although it is operator-dependent,
rospective series of 672 cases of polyhydramnios, with a consistency should be improved by incorporating the sign
79% rate of foetal malformation. They differ, however, from of polyhydramnios into the screening for foetal malforma-
those of Kouakou et al. [6] who found a positive predictive tions. Our study demonstrates that polyhydramnios has very
value of 42.6% in a study that, like ours, was carried out in high sensitivity, specificity, and positive and negative pre-
Ivory Coast. The difference can be explained by the fact that dictive values when foetal malformations are present. If
in this study (which was based on the physical examination polyhydramnios is seen on obstetric sonography, this should
of neonates), there was a foetal death rate of 44.4% and lead to sonographer to look routinely and extremely care-
Kouakou et al. [6] did not state whether the cause of this fully for any foetal malformations, especially in countries
foetal mortality was connected to major foetal abnormal- where there is a high prevalence of infectious diseases
ity. According to Perthus et al. [15], foetal malformations with neural cell tropism, such as toxoplasmosis and rubella.
Polyhydramnios and prenatal diagnosis of foetal malformation 437

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