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Integrative mid-trimester anomaly (IMTA) chart: A novel sonographic approach for syndromatic challenges (pilot study)

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The Journal of Maternal-Fetal & Neonatal Medicine
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Objective: To validate the use of the integrative mid-trimester anomaly (IMTA) chart, a novel chart that aims to increase sonographers’ ability to diagnose fetal syndromes and complex anomalies. Methods: This study was conducted between September 2014 and January 2015. Pregnant women who attended our hospital for fetal medicine consultation during the second trimester were recruited. The diagnosis was assigned by a qualified consultant. The research coordinator randomized women between two groups (each consisted of two sonographers with comparable experience) and each was then examined twice (once with and once without the chart). Supposed diagnosis, patient and sonographer satisfactions were reported. Results: Twenty five women were recruited. Their average age was 26.48 ± 4.49 years and gestational age at examination was 24.39 ± 6.39. There were 17 (68%) fetuses that had multiple anomalies. The duration of examination was comparable. However, patient and sonographer satisfactions were higher when the same women were examined with the chart (p < 0.0001). The accuracy of diagnosis was also significantly higher (p = 0.03). Conclusion: The IMTA chart seems to be a useful tool for novice sonographers that could increase their diagnostic accuracy and improve their patient and their own satisfaction.
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ISSN: 1476-7058 (print), 1476-4954 (electronic)
J Matern Fetal Neonatal Med, Early Online: 1–7
!2015 Informa UK Ltd. DOI: 10.3109/14767058.2015.1021675
ORIGINAL ARTICLE
Integrative mid-trimester anomaly (IMTA) chart: a novel sonographic
approach for syndromatic challenges (pilot study)
Sherif A. M. Shazly
1,2
, Ahmed M. Abbas
1
, Shymaa S. Ali
1
, and Neima Z. Salem
1
1
Women’s Health Hospital, Assiut University, Assiut, Egypt and
2
Division of Gynecology, Mayo Clinic, Rochester, MN, USA
Abstract
Objective: To validate the use of the integrative mid-trimester anomaly (IMTA) chart, a novel
chart that aims to increase sonographers’ ability to diagnose fetal syndromes and complex
anomalies.
Methods: This study was conducted between September 2014 and January 2015. Pregnant
women who attended our hospital for fetal medicine consultation during the second trimester
were recruited. The diagnosis was assigned by a qualified consultant. The research coordinator
randomized women between two groups (each consisted of two sonographers with
comparable experience) and each was then examined twice (once with and once without
the chart). Supposed diagnosis, patient and sonographer satisfactions were reported.
Results: Twenty five women were recruited. Their average age was 26.48 ± 4.49 years and
gestational age at examination was 24.39 ± 6.39. There were 17 (68%) fetuses that had multiple
anomalies. The duration of examination was comparable. However, patient and sonographer
satisfactions were higher when the same women were examined with the chart (p50.0001).
The accuracy of diagnosis was also significantly higher (p¼0.03).
Conclusion: The IMTA chart seems to be a useful tool for novice sonographers that could
increase their diagnostic accuracy and improve their patient and their own satisfaction.
Keywords
Congenital anomalies, fetal medicine,
fetal syndromes, obstetric ultrasound,
prenatal care
History
Received 1 August 2014
Accepted 18 February 2015
Published online 17 March 2015
Introduction
Based on current evidence, mid-trimester fetal ultrasound
scan has become a fundamental entity in routine antenatal
care for all pregnant women. Mid-trimester scan provides a
baseline for future sequential evaluation of fetal growth trend
and serves as a tool for early diagnosis of a wide spectrum
of fetal anomalies [1]. Routine screening for fetal
anomalies is justifiable because they are relatively common
even in low-risk women. According to EUROCAT (European
Surveillance of Congenital Anomalies), which covered 1.5
million annual births in 22 countries in Europe, the preva-
lence of major congenital anomalies was 23.9 per 1000 births
for 2003–2007 [2]. The Eurofetus study, which is by far the
largest prospective study that investigated the validity of
ultrasound anomaly screening, the overall detection rate of
fetal anomalies was 61.4%. Fifty five percent of major
anomalies were diagnosed within 24 weeks of gestation [3].
Mid-trimester fetal scan provides a facility for early
detection of fetal anomalies and elective termination of
pregnancy for indicated fetuses, this subsequently improves
the rate of live births in these women relative to women in
whom no anomalies are detected [3]. Furthermore, the
sequential advancement of fetal medicine and in-utero
treatment strategies (either medical or surgical) indicates the
significant influence of early prenatal diagnosis of fetal
anomalies on neonatal morbidity and mortality [4,5]. Finally,
detection of fetal anomalies helps health care providers to
properly plan for birth and to consider special neonatal care
for the anomalous fetus according to circumstances.
However, despite being an essential obstetric practice, the
sensitivity of routine mid-trimester fetal ultrasound scan
seems to vary grossly according to the literature; studies
revealed very fluctuating detection rates ranging from 13% to
82% (average 27.5%), which means that the high expectations
of Eurofetus study may not always be met [6]. This great
discrepancy may be attributed to variations in the quality of
equipments, the experience of sonographers and the excel-
lence of health service among prenatal care centers [6]. These
factors may adversely affect the reliability of fetal screening,
impair maternal counseling about potential fetal complica-
tions and increase the risk of poor outcome for neonates that
are born with undiagnosed anomalies.
In this review, the authors present the novel IMTA chart as
a possible diagnostic facility that helps novice obstetric
sonographers to handle confusing anomalous findings and to
improve their performance and detection of associations or
syndromatic anomalies.
Address for correspondence: Sherif A. M. Shazly, MBBCh, MSc,
Division of Gynecology, Mayo Clinic, Rochester, MN, USA. Tel:
+1(507)5131392. E-mail: shazly.sherif@mayo.edu, sherify2k2@gmail.
com
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Material and methods
A pilot study was conducted in our tertiary care hospital
between September 2014 and January 2015. Pregnant women
who were referred to our hospital for evaluation by suspected
anomalies were considered eligible and were counseled to
participate in the study. This included all women in the
second trimester, regardless of their age or medical history.
Selection frame was not limited to the traditional window of
fetal anomaly scan (18–22 weeks) to cope with the poor
compliance to anomaly screening that we usually experience
with the a considerable proportion of the population we serve.
Recruited women were assessed by a highly qualified single
fetal medicine consultant who assigned their final diagnosis.
The research coordinator received the final diagnosis of each
patient in a coded sheet that he kept confidential.
The research coordinator then randomized each patient to
one of two groups. Each group consisted of two sonographers
at the same level of experience (one group had two
sonographers with 2 years of experience and the other group
had 4 years of experience). Neither of the sonographers was a
fetal medicine specialist. Once a patient was assigned to one
group, she was randomized again to one sonographer who
conducted the examination using the IMTA chart and another
who traditionally performed the examination. Accordingly,
each patient was randomly examined by two sonographers of
comparable experience; one performed the procedure trad-
itional and the other used the IMTA chart using random
assignment each time. Each sonographer reported his/her
diagnosis, duration of examination, patient and sonographic
satisfaction (in a scale from 0 to 10, 10 being the best) in a sheet
that contained patient code that was delivered to the coordin-
ator. These sheets were finally delivered to the statistician
using codes for both the patients and the obstetricians.
The study was approved by Institution Review Board and
women were consented before participating in the study.
The integrative mid-trimester anomaly chart
The integrative mid-trimester anomaly (IMTA) chart is a
tabulated diagnostic chart that guides young sonographers to
expect potential associated anomalies of a particular defect
that they diagnose first by following the horizontal lines of the
chart. Following these lines leads to a final diagnosis, if
several anomalies are elicited (Figure 1).
The chart consists of seven colored columns that corres-
pond to the seven sequential regions examined during fetal
screening and one additional column (the left grey column),
which includes some basic sonographic findings that may be
implicated in chart associations (e.g. amniotic fluid abnorm-
alities). Under each column, there is checklist for common
defects that a practitioner may diagnose while examining this
region. Anomalies under each column should be checked
during examination of the corresponding region. Once an
anomaly is identified and checked in the list, the examiner
should follow the same horizontal line in the other six
columns (regions) to find out what other anomalies he/she
may expect in association. Each horizontal line ends with a
final diagnosis/syndrome (black boxes) or prognosis (grey
boxes), which is assigned once anomalies in the same line co-
exist. It is intuitive to mention that some anomalies extend
through multiple horizontal lines because they are involved in
many associations. An anomaly is considered isolated if no
other anomalies are found.
Some anomalies in the chart are followed by the bold (D)
letter, which means that Doppler assessment is preferable.
Some anomalies are italic referring to anomalies that are not
routinely visualized, unless expected by the presence of other
components of a syndrome. Furthermore, findings that are
followed by stars are the major soft markers of aneuploidy
while those followed by a triangle are the minor soft markers.
Syndromatic components of the chart
The IMTA chart considers more than 45 possible associations
and syndromes with variable presentations and prevalence
(Table 1). The clue to these syndromes, particularly for less-
experienced practitioners, is gross anomalies (e.g. omphalo-
cele) rather than fine or fatal ones (e.g. polydactyly). These
obvious anomalies are the cornerstones of diagnostic ability
of the chart. Thoracic hypoplasia can be readily elicited
through MRI, CT and X ray-like approaches and can be a clue
for Jeune syndrome, short rib polydactyly syndrome,
thantophoric dysplasia and achondrogenesis [7–9].
Omphalocele is another gross finding that may guide to the
diagnosis of Beckwith Wiedmann syndrome, pentology of
Cantrell, Body stalk abnormalities and trisomy 13 and 18
[10–12]. Multi-cystic echogenic kidney is a familiar anomaly
that helps to diagnose Ellis Van Creveld syndrome, Meckel
syndrome and Jeune syndrome [7,13,14]. Ascites may be a
part of fetal hydrops and may refer to the diagnosis of
meconium peritonitis and laryngeal atresia. While examining
the limbs, the presence of short femurs, either normally
appearing, bowed or fractured, helps to diagnose a variety of
skeletal dysplasias. While some of these syndromes may be
quite rare (prevalence of spondyloepiphyseal dysplasia
congenita is 1 per 10 000 live births), some anomalies are
relatively common including 22q micro-deletion (1 per 6000
to 6500 live births) [15,16].
Fetal scanning approach
During fetal anomaly scan, most practitioners choose to follow
an anatomical approach; practitioners begin with the head and
central nervous system (CNS) then proceed to the neck, chest,
abdomen and skeletal system [1]. This approach allows
examiners to move the probe through contiguous regions to
facilitate complete examination and prevent missing examin-
ation of any fetal part. Evaluation of the skull and CNS can be
achieved with minimal manipulations through the trans-
ventricular/trans-thalamic and trans-cerebellar planes, which
adequately visualize the skull and the critical anatomical
landmarks of the brain [17]. Assessment of the chest and
abdomen is complicated because it indicates visualization of
multiple anatomically related systems, namely the cardiovas-
cular system (CVS), the respiratory system (RS), the gastro-
intestinal tract (GIT) and the urogenital system (UGS).
Evaluation of these systems should include the situs, structure,
size, echogenicity and anatomical relations of chest, abdominal
and pelvic organs. The limbs are then examined; skeletal
dysplasia can be identified in 45% of the cases if the limbs are
systematically examined [18]. Meticulous examination of the
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Basic scan CNS Head and neck Chest/Lung Heart Upper abdomen Lower abdomen/pelvis Lower limbs/spine
Trans-ventricular view MRI-like view Gastroschiasis
Ventriculomegaly
Septum pellucidum agenesis
Corpus callosum agenesis
Holoprosencephaly
Choroid plexus cyst
Anencephaly
Neck teratoma
Absent stomach
bubble
Esophageal atresia
Type B, C
Dilated bowel Small bowel atresia
Esophageal pouch Esophageal atresia
Type A,D,E
Fetal goiter (D)
Right cyst (hepac or choledochal cyst)
Le cyst (splenic cyst)
Echogenic liver or bowel
Echogenic bowel
(D)
Fetal blood ingeson
Utero-placental insufficiency
Microcephaly Micrognathia Seckel
syndrome
Trans-cerebellar view
Mega cisterna magna
Vermian hypoplasia
Blake's pouch cyst
Dandy walker anomaly
CT-like view
Midline cysc lesion Enteric cyst/
bronchogenic cyst
Midline lesion -
mixed echogenicity
Teratoma/
pericardial tumors
Poorly mineralized skull Under-mineralized bones Hypo-phosphatesia
Dextrocardia(right isomerism) Rightstomach Situs inversus
Dextrocardia(le isomerism)
Kypho-
scoliosis
Club foot SEDC
Omphalocele
Body stalk abnormalies
Macroglossia Beckwith Wiedmann
syndrome
Ectopia cordis /anterior diaphragmac defect Cardiac defects
(VSD, ASD, FT)
Pentalogy of Cantrell
Radial aplasia (club hand) Trisomies (13, 18)
Holt-Oram syndrome
Dilated colon VACTERL associaon
Duodenal atresia Trisomy 21
Cle lip &/or
palate
Prenasal
edema
Wolf Hirschorn
syndrome
Thymic hypoplasia 22q micro-deleon
Mulcysc echogenic kidney
Poly-
dactyly
Ellis Van Creveld syndrome
Defecve skull bone Occipital encephalocele Meckel syndrome
Thoracic hypoplasia (short ribs) Bilateral
short
straight
femurs
Jeune syndrome
Short rib polydactyly syndrome
Cloverleaf skull Thantophoric dysplasia type II
Caput membanaceum Achondrogenesis
Bilateral bowed/
fractured short
femurs
Thanatophoric dysplasia type I
Absent scapula -11 pairs of ribs Abnormal genitalia Campomelic Dysplasia
Rib fractures Osteogenesis imperfecta Type II
Osteogenesis imperfecta
Unilateral short femur Focal femoral hypoplasia
Abdominal organs Dextro-posion Diaphragmac hernia
Right lung hypoplasia Scimitar syndrome
Echogenic lung (D) Extra-lobar lung
sequestraon vs.
Type III CAM
Ascites (hydrops)
Bad prognosis
Echogenic cysc lung Type I/II CAM Bad prognosis
Distended lungs Compressed heart Laryngeal atresia
Hydrothorax Cardiomegaly Hydrops (HF)
Hydrops
Meconium pseudocyst Dilated echogenic bowel Meconium peritonis
Cysc hygroma Bad prognosis
Absent kidneys Absent bladder (D) Renal agenesis
Enlarged echogenic kidneys Infanle PCKs
Bladder exstrophy
Cyst superior tobladder Mesentric/ovarian cyst
Cyst posterior to bladder Hydrometrocolpos /
anterior meningocele
Dilated kidneys Dilated bladder Bladder outlet obstrucon
Dilated ureters VU reflux vs. obstrucon
PUJ obstrucon vs. VU reflux
Ureterocele
Nuchal fold thickness
Banana sign - Lemon sign Cloacal exstrophy (anterior) Spina bifida
Cranial meningocele
Sacrococcygeal hamartoma (posterior)
IUGR
IUGR
Short cord
Macrosomia
Oligohydramnios
Oligohydramnios
AF floaters
Ellis Van Creveld syndrome is associated with short limbs, this was not included because it may be recognizable lateraer the me of anomaly scan
(D) means Doppler indicated
Abbreviaons:IUGR (IntraUterine Growth Restricon) -AF (Amnioc fluid)-ASD (Atrial Septal Defect) -VSD (Ventricular SeptalDefect) -FT (Fallot Tetrology) -CAM (Congenital Adenomatous Malformaon)-HF (Heart Failure) -PCKs (PolyCysc Kidneys) -VU (Vesico-Ureteric)-PUJ (Pelvi-Ureteric Juncon)-SEDC(spondyloepiphyseal dysplasia congenita)
Poly-
hydramnios
Figure 1. Integrative mid-trimester anomaly (IMTA) chart.
DOI: 10.3109/14767058.2015.1021675 IMTA chart 3
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Figure 2. Ultrasonographic approach for
mid-trimester fetal anomaly scan.
Table 1. Some syndromes and sonographic associations demonstrated in the IMTA chart and their prevalence.
Anomaly Prevalence Major sonographic features
Seckel syndrome 1 per 10 000 [24] Intrauterine growth restriction, micrognathia, microcephaly
Wolf Hirschorn syndrome 1 per 50 000 [25] Intrauter ine growth restriction, cleft lip/palate, prenasal
edema, cardiac defects
Scimitar syndrome 1–3 per 100 000 [26] Cardiac dextroposition, right lung hypoplasia
Beckwith Wiedemann syndrome 1 per 10 340 [15] Placental dysplasia, macrosomia, macroglossia,
omphalocele
Pentalogy of Cantrell 5.5 per million [16] Omphalocoele, sternal cleft, ectopia cordis, intra-cardiac
defects
Spondyloepiphyseal dysplasia congenita 1 per 100 000 [20] Kyphoscoliosis, club foot
Holt-Oram syndrome 0.95 per 100 000 [27] Radial aplasia (club hand), intra-cardiac defects
Vacterl association 1 per 10 000 to 1 in 40 000 [28] At least three of: vertebral defects, anal atresia, cardiac
defects, tracheo-esophageal fistula, renal anomalies, and
limb abnormalities
22q micro-deletion 1 per 6000 to 6500 among whites,
blacks, and Asians
1 per 3800 among Hispanics [21]
Cleft lip/palate, thalamic hypoplasia, cardiac defects
Ellis Van Creveld syndrome 1 per 60 000 [19] Cleft lip/palate, polydactyly, multi-cystic echogenic kidney,
intra-cardiac defects
Meckel syndrome 1 per 13250 to 1 per 140000
(1:3000 in Belgium and 1:9000
in Finland) [18]
Occipital encephalocele, polydactyly, multi-cystic
echogenic kidney
Jeune syndrome 1 per 100 000–130 000 [12] Thoracic hypoplasia (short ribs), short femurs, polydactyly,
multi-cystic echogenic kidney
Thanatophoric dysplasia 0.80 per 10 000 [14] Cloverleaf skull, thoracic hypoplasia (short ribs), short
femurs
Campomelic dysplasia 1 per 40 000 to 1 per 80 000 [29] Absent scapula, 11 pairs of ribs, bilateral bowed/fractured
short femurs, abnormal genitalia
Body stalk abnormalities 0.32 per 10 000 [17] Kypho-scoliosis, short cord, omphalocele
Short rib polydactyly syndrome 2.5 to 3.3 per 10 000 [13] Thoracic hypoplasia (short ribs), short femurs, polydactyly,
with or without visceral anomalies
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hand and foot including digit counting is not mandatory [1],
unless it is indicated for identification of related anomalies as
discussed later in this review.
This widely acceptable approach is generally compatible
with the IMTA chart because the design of the chart
corresponds to the anatomical regions of the fetus. This
anatomical approach is performed readily by sonographic
experts, and they gradually develop their own anatomical-
based approach that meets their own habituation and serve
them better. Actually, there are no absolute instructions
regarding sequential manipulations of the probe within these
anatomical regions and the practitioner could create his own
steps as long as his performance is systematic, comfortable,
efficient and not time consuming.
However, the authors may suggest a series of contagious
probe movements that can minimize assessment time for
novice sonographers, who have not yet developed their own
steps (Figure 2). Assessment of the head and neck may follow
a ‘‘3 3’’ rule; this begins with the trans-thalamic/trans-
ventricular plane then the probe is rotated to get the trans-
cerebellar plane and finally rotated in the opposite direction to
get the trans-orbital view. These first ‘‘3’’ plans visualize the
skull, the thalami, cavum septum pellucidi, cerebral ven-
tricles, cerebellum and cisterna magna. The next ‘‘3’’ plans
are brought by continuous sliding of the probe from the last
plane (trans-orbital) downwards to get a trans-palatal, trans-
mandibular then a trans-cervical view. These three transverse
views help to elicit cleft lip/palate, glossal and neck
abnormalities, respectively. By continuous sliding of the
probe from the trans-cervical plane towards the caudal end of
the fetus, assessment of fetal chest, upper and lower abdomen
and pelvis will be feasible and fetal visceral organs will be
shown in a ‘‘CT-like view’’. This is followed by rotating the
probe to bring the whole region of the neck, chest, abdomen
and the pelvis in a longitudinal or ‘‘MRI-like view’’. This
view could visualize any suspicious anomaly using another
perspective. It also helps to visualize the ‘‘pouch’’ sign in
fetuses with polyhydramnios and visible gastric bubble found
in the ‘‘CT-like view’’. This sign, which refers to visualiza-
tion of the dilated fluid filled blind-ending esophagus during
fetal swallowing, is a clue for diagnosis of types A, D and E of
esophageal atresia, in which a stomach bubble may be visible
[19,20]. An axial view or ‘‘X-ray like view’’ may be indicated
to visualize or confirm some examiner’s findings, e.g. absent
or hypoplastic scapulae in campomelic dysplasia [21]. The
spine could be visualized sufficiently through these three
views. Finally, segmental scanning of fetal limbs for skeletal
dysplasia or ‘‘the all fours bony approach’’ is performed by
assessment of femoral length and sequential visualization of
limb bones for structural integrity, mineralization and align-
ment. The placenta and the umbilical cord are also examined.
Statistical analysis
Statistical analysis was performed using STATAÕversion 12
(STATA corp., College Station, TX). Shapiro–Wilk test was
used to test normality; paired t-test was used to compare
continuous variables who distributed normally. Proportions
were compared using Mc Nemar’s test. pvalue 50.05 was
considered significant.
Results
Twenty-five pregnant women with various fetal anomalies
were recruited in this pilot study. Table 2 summarizes the
characteristics of this cohort. Their average age was
26.48 ± 4.49 years, their average parity was 2.12 ± 1.62 and
their gestational age at sonographic examination was
24.39 ± 6.39. Among these women, 17 (68%) fetuses had
more than one anomaly either combined or syndromatic. Final
diagnoses as addressed by a single expert sonographer, ranged
from simple relatively common anomalies (e.g. anencephaly
[n¼4] and hydrops fetalis [n¼5]) to challenging relatively
rare ones (e.g. Meckel syndrome [n¼1], Seckel Syndrome
[n¼1], thanatophoric dysplasia type II [n¼1] and Wolf
Hirschorm syndrome [n¼1]).
As shown in Table 3, there was no significant difference in
the duration of examination when the same women were
evaluated by different sonographers of the same experience
with or without the chart (6.08 ± 2.00 versus 7.12 ± 3.11,
p¼0.16). However, patient satisfaction, as self-reported in a
scale from 0 to 10 after the examination, was significantly
higher when women were examined by chart-guided sono-
graphers (7.64 ± 1.66 versus 5.20 ± 2.14, p50.0001).
Similarly, sonographers reported satisfaction was significantly
higher when they used the chart (8.96 ± 1.17 versus
6.60 ± 1.96, p50.0001).
Table 2. Characteristics of study population.
Character Description
Age in years (mean ± SD) 26.48 ± 4.49
Parity (mean ± SD) 2.12 ± 1.62
Residence (n,%)
Rural 14 (56%)
Urban 11 (44%)
Gestational age at examination
(mean ± SD)
24.39 ± 6.39
Relevant medical disorders with current
pregnancy (n,%)
No 22 (88%)
Yes* 3 (12%)
Folic acid intake in current pregnancy (n, %) 14 (56%)
Complexity of fetal anomalies in current pregnancy
Isolated 8 (32%)
Combined/syndromatic 17 (68%)
Types of fetal anomalies in current pregnancy
Anencephaly 4 (16%)
Microcephaly 1 (4%)
Bilateral renal agenesis 2 (8%)
Bladder neck obstruction 1 (4%)
Hydrops fetalis (with or without
other anomalies)
5 (20%)
Dandy Walker anomaly 1 (4%)
Hydrocephalus/ventriculomegaly
(with or without other anomalies)
2 (8%)
Polycystic kidney disease 3 (12%)
Meckel syndrome 1 (4%)
Sacral meningocele 1 (4%)
Seckel Syndrome 1 (4%)
Thanatophoric dysplasia type II 1 (4%)
Wolf Hirschorm syndrome 1 (4%)
Osteogenesis imperfecta 1 (4%)
Past history of anomalous fetuses (n, %) 7 (28%)
SD, standard deviation.
*All the three cases were diabetic.
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In terms of accuracy, sonographers missed the actual
diagnosis in seven (28%) women using their own approach. In
comparison, they only missed one diagnosis (4%) when they
used the chart. The accuracy of sonographers’ diagnoses
following traditional and IMTA-aided examinations was
significantly different in favor of chart diagnosis (p¼0.03).
Discussion
According to the World Health Organization (WHO), many
current sonographic practitioners are likely to have no or
limited formal training [22]. According to Ville, mid-
trimester anomaly scan should be performed by practitioners
who are trained on the use of ultrasonography and who are
regularly in practice, they should be involved in continuing
medical education and regular quality assurance and control,
and they should have clear referral plans for women with
suspected fetuses [23]. However, these optimal parameters
may not be available in most community-serving centers,
particularly in developing countries. Unfortunately, about
75% of prenatally diagnosed fetal anomalies are elicited in
low-risk population, who usually attend community rather
than tertiary centers for prenatal care [6]. This means that
most fetal anomalies are likely to be initially assessed by less-
experienced practitioners in these community centers. A
practitioner may consider tertiary center referral in those who
seem to have fetal ‘‘problems’’. However, this referral is not
always an option, for instance due to financial burden.
The aim of the IMTA chart is to approximate the
diagnostic accuracy between community and tertiary care
and compensate inevitable experience differences to some
extent. With a minimal level of experience, the chart helps
practitioners to screen for many isolated and syndromatic
anomalies within acceptable time. The practitioner only needs
to visualize major anomalies (e.g. omphalocele, ascites,
multi-cystic kidneys) to minimize his/her screening window.
Identifying minor anomalies (e.g. polydactyly) is limited to
certain cases in which these anomalies may be expected and
the practitioner may save much time and effort by searching
for certain expected associations for a certain anomaly rather
than to screen all systems meticulously. At the end of
examination, the practitioner will be able to conclude the
most likely syndromatic diagnosis without recalling much
information. Furthermore, it helps researchers to recognize if
the anomalies they diagnose do not usually coexist together
and represent an unreported or rare association. We conducted
this pilot study to evaluate its value in practice; our results
were promising in terms of accuracy, patient and sonographer
satisfaction, a conclusion that supports implementation of the
chart among young sonographers.
However, the IMTA chart may have some limitations.
Assigning all known syndromes in one chart is not applicable.
The chart considers the most common and readily visualized
syndromes to avoid unacceptable misdiagnoses. Fetal echo-
cardiography was not discussed by the authors and was
mentioned briefly because, we believe, it should be dealt with
as a separate entity. The chart needs to be evaluated by
practitioners worldwide with different levels of experience to
judge the validity of the chart. The authors consider future
assessment of tool validity through a pilot study that recruits
volunteer sonographers belonging to different countries and
services, who had accepted to use this tool. A similar chart for
fetal echocardiography may be considered to facilitate fetal
cardiac examination for less-experienced sonographers.
Conclusion
An efficient systematic approach of mid-trimester fetal
anomaly scan is the clue for proper diagnosis and reliable
parent counseling. The IMTA chart helps to guide less-
experienced practitioners to consider associations and syn-
dromes, once an anomaly is elicited. This approach saves time
and helps to minimize the percentage of misdiagnosis.
Prognosis could be appropriately determined.
Declaration of interest
The authors declare no conflict of interest.
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Table 3. Comparison in the quality of sonographic examination with or without IMTA chart implementation.
Examination
without the chart
Examination
using the chart pvalue
Duration of examination in minutes (mean ± SD) 7.12 ± 3.11 6.08 ± 2.00 0.16
Patient satisfaction in a 0–10 scale (mean ± SD)* 5.20 ± 2.14 7.64 ± 1.66 50.0001
Sonographer satisfaction in a 0–10 scale (mean ± SD)* 6.60 ± 1.96 8.96 ± 1.17 50.0001
Diagnostic accuracyy
Accurate 18 (72%) 24 (96%) 0.03z
Not accurate 7 (28%) 1 (4%)
SD, standard deviation.
*The value ‘‘10’’ represents the highest satisfaction.
yYoung sonographers’ diagnosis as opposed by an expert sonographer as a gold standard.
zpvalue was calculated using Mc Nemar’s test.
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DOI: 10.3109/14767058.2015.1021675 IMTA chart 7
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... 253 The detection rate of fetal malformations can be improved by an efficient, systematic approach of fetal malformation scan using an integrative anomaly chart. 254 Now, prenatal fetal echocardiography, 3D ultrasonography, and ultrafast magnetic resonance imaging (MRI) are frequently used as an adjunct to ultrasound for the characterization of fetal malformations (cardiac defect, facial dysmorphology, open fetal defect, CNS defect, skeletal defect, genitourinary defect, etc). Prenatal detection of fetal malformations also helps healthcare providers plan for birth in the appropriate place to avail special postnatal/neonatal care for the malformed fetus, including diagnosis, management, and counseling. ...
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... The discrepancy may be attributed to variations in the quality of equipments &/or the experience of sonographers. This can be improved by efficient systematic approach of mid-trimester fetal malformation scan using integrative mid-trimester anomaly chart 11 . Now prenatal fetal echocardiography, 3D ultrasonography and ultrafast magnetic resonance imaging (MRI) are frequently used as an adjunct to ultrasound for the characterization of fetal malformations (cardiac defect, facial dysmorphology, open fetal defect, CNS defect, skeletal defect, genitourinary defect, etc). ...
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Fetal malformation (major) affects approximately 3% of births and leading cause of perinatal morbidity and mortality in developed nations. Some of these conditions are incompatible with longterm postnatal survival and hence warrants preventive measures by introducing second trimester prenatal ultrasound. Prenatal ultrasound has become a standard part of antenatal care in urban India. Although the vast majority of the ultrasound examinations performed in antenatal period provide reassurance to pregnant women and their obstetric care providers, however some of these scans may reveal fetal anomaly thus causing stress in parents as well as caregivers. Since many fetal anomalies may be associated with perinatal morbidity &/or mortality it is important to provide accurate information about the findings i.e., accurate diagnosis as this is the basis for subsequent management. Thus obstetric caregivers must refer these cases to a good level II fetal ultrasound clinic or fetal medicine centre or tertiary care unit as first steps for proper re-evaluation of fetal anomalies and subsequent course of management. As fetal anomalies are associated with increased risk of chromosomal &/or sub-chromosomal anomalies, many experts may offer karyotype analysis and/or array comparative hybridization (aCGH) as the second step of management. A malformation (structural anomaly or anomalies) with normal karyotype and/or aCGH require classification as either isolated event or as part of a defined syndrome/sequence/association as third step of management and for this requires consultation with medical geneticist, dysmorphologist and genetic counselor. With thousands of syndromes listed in the OMIM and Winter-Baraitser Dysmorphology database, medical genetics health professionals can often be overwhelmed in refining the diagnosis, counseling and management however this prenatal assessment may be incomplete and for overcoming this deficiency there is a need for re-assessment after delivery/termination (fourth step of management). This is important today as many of the malformations/developmental defects are yet to be categorized etiopathologically, and hence immediate need is to start clinical registry along with bio-repository of developmental defects cases for research work on informative families, in particular with multiple affected fetuses/sibs, using genomics, epigenomics, proteomics, etc platforms bedsides detailed autopsy by a team of Perinatal pathologist and medical geneticist. This write up will provide a framework for managing fetal anomalies detected prenatally during routine ultrasound diagnosis.
... The discrepancy may be attributed to variations in the quality of equipment. This can be improved by efficient systematic approach of mid-trimester fetal malformation scan using integrative mid-trimester anomaly chart [11]. Now prenatal fetal echocardiography, 3D ultrasonography and ultrafast magnetic resonance imaging (MRI) are frequently used as an adjunct to ultrasound for the characterization of fetal malformations (cardiac defect, facial dysmorphology, open fetal defect, CNS defect, skeletal defect, genitourinary defect, etc). ...
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Major fetal malformation affects approximately 3% of births and is leading cause of perinatal morbidity and mortality. Some of these conditions are incompatible with long-term postnatal survival and hence warrants preventive measures by introducing second trimester prenatal ultrasound. Prenatal ultrasound has become an essential practice of antenatal care in urban India. Although the vast majority of the ultrasound examinations performed in antenatal period provide reassurance to pregnant women and their obstetric care providers, however some of these scans may reveal fetal anomaly thus causing stress to parents as well as caregivers. Since many fetal anomalies may be associated with perinatal morbidity and/or mortality as well as risk of recurrence in next pregnancy it is important to provide accurate information about the findings i.e., accurate diagnosis as this is the basis for subsequent counseling and management. Thus obstetric caregivers must refer these cases to a good level II fetal ultrasound clinic or fetal medicine center or tertiary perinatal care unit as first steps for proper re-evaluation of fetal anomalies and subsequent course of management. As fetal anomalies are associated with increased risk of chromosomal and/or sub-chromosomal anomalies, many experts may offer karyotype analysis and/or array comparative hybridization (aCGH) as the second step of management. A malformation (structural anomaly) with normal karyotype and/or aCGH requires classification as either isolated event or as part of a defined syndrome/ sequence/ association as third step of management and for this requires consultation with medical geneticist, dysmorphologist and genetic counselor. With thousands of syndromes listed in the OMIM and Winter-Baraitser Dysmorphology database, medical genetics health professionals can often be overwhelmed in refining the diagnosis, counseling and management however this prenatal assessment may be incomplete and for overcoming this deficiency there is a need for re-assessment after delivery/termination (fourth step of management). This is important today as many of the malformations/developmental defects are yet to be categorized etiopathologically, and hence immediate need is to start clinical registry along with bio-repository of developmental defects cases for research work on informative families, in particular with multiple affected fetuses/sibs, using genomics, epigenomics, proteomics, etc platforms bedsides detailed autopsy by a team of perinatal pathologist and medical geneticist. This write up will provide a framework for managing fetal anomalies detected prenatally during routine ultrasound diagnosis.
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Short rib polydactyly syndrome (SRPS) is a very rare congenital anomaly that is classified into four subtypes. It is an autosomal recessive inherited disease. We report a case of this syndrome without a previous family history of congenital defects. © 2007 Tehran University of Medical Sciences. All rights reserved.
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This book focuses on the radiographic changes of malformation syndromes and skeletal dysplasias. It is structured such that the reader can identify the radiographic changes and relate them to specific disease entities. The aim is to provide an essential, practical guideline to the recognition of the key radiographic signs for diagnosing malformation syndromes and skeletal dysplasias. The book is intended for radiologists, clinical and medical geneticists, and pediatricians. The material is divided into two parts. The first part is structured in a symptom-oriented form and describes approximately 200 radiographic signs, providing information about their incidence, anatomic location, diagnostic relevance, pathogenesis, and pattern of inheritance, if applicable. The second part presents about 100 syndromes and skeletal dysplasias and provides analytical information concerning symptoms, genetics, causes, radiographic appearance, and major differential diagnosis. © Springer-Verlag Berlin Heidelberg, 2005. All rights are reserved.
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Since the first description of chondroectodermal dysplasia by Ellis and van Creveld in 1940,1 approximately 32 cases of this syndrome have been reported in the literature. Recent articles2-5 have reviewed the literature and discussed the salient features of the disease. Characteristically, there is ectodermal dysplasia, chondrodysplasia, and polydactyly, with or without associated congenital heart lesions and other defects. This report is concerned with the 33d case to be described and the results of chromosome analysis done on this patient. To our knowledge there have been no previous reports of chromosome studies in a patient with this syndrome. Report of Case A 3½-year-old white female of Italian descent, was admitted to the Jersey City Medical Center, N.J., on March 8, 1961 because of fever and respiratory distress of 24 hours' duration.Past History.—This patient was the product of a normal full-term pregnancy and delivery; birth weight was 2,778
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Estimates of the incidence of the Meckel syndrome (MS) from different parts of the world vary from 1:140,000 to 1:13,250 births. In this nationwide study performed in Finland, the incidence of 1:14,400 births was found by retrospective ascertainment during the period 1970–1979, while the incidence was 1:8,500 births when prospective monitoring was performed in 1980–1981. The most probable incidence in Finland is about 1:9,000 births. Autosomal recessive inheritance of MS is confirmed in this study. The ratio of affected sibs, corrected for truncate complete ascertainment, was 0.261. No consanguinity between parents was found, as marriages between close relatives are rare in Finland and the ancestors were not traced back far enough to find remote consanguinities.
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Although Beckwith-Wiedemann syndrome (BWS, OMIM #130650) is the most common genetic overgrowth disorder, data on its epidemiology are scanty and the estimates of its occurrence show wide variability. The aim of this study is to assess its prevalence in Piedmont Region (Italy). We included in the study all patients diagnosed with BWS born in Piedmont from 1997 to 2009 through a search in the Italian Registry for Rare Diseases. This source was further validated with data from the network of Regional Clinical Genetics services and surveys in extra-regional Clinical Genetics centres, laboratories and the Italian BWS patients association. All cases were further ascertained through physical exam, medical history and specific molecular tests. The search identified 46 clear-cut cases of BWS born across the 13-year period, providing a prevalence of 1:10 340 live births (95% confidence interval 1:7,752-13,698 live births). Among the 41 patients who underwent molecular tests, 70.7% were positive, showing hypomethylation of the IC2 imprinting center (29.3%), paternal chromosome 11 uniparental disomy (pUPD11, 24.4%), IC1 hypermethylation (14.6%), CDKN1c mutation (2.4%), whereas 29.3% had negative molecular tests. The study provides an approximate BWS prevalence of 1:10,000 live birth, the highest reported to date. © 2013 Wiley Periodicals, Inc.
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