Soft
Markers in USG
Isolated
Ventriculomegaly: -Defined
only when the AP diameter of posterior horns of lateral
ventricles at the level of thalami are > 11 mm , unaccompanied by continuous
production of excess CSFà>
therefore no resultant hydrocephalus which is excessive production of
CSF.. Ventriculomegaly is observed in
many CNS abnormalities. Isolated ventriculomegaly:- little importance :
Need follow up : : If limited to 15 mm
then minimal concern. But if the AP diameter exceeds 15 mm then following
possibilities exist e.g.1) Additional structural abnormalities of brain 2) congenital viral infections.. Defined as the lateral ventricle atria width at the
level of parieto-occipital fissure. Of concern if more than 10 mm. whenever it
is detected in utero, it is important to assess the extent and degree as well
as any associated CNS or extra CNS anomalies. Ventriculomegaly is defines as -mild-(10-15mm)
and severe > 15mm. It is a presenting feature of many abnormalities that
have a wide spectrum of prognosis from very good to lethal.
Which
soft markers are relevant? When to refer to foetal medicine unit?
Is serum markers too are positive? Then
referral is a must, however insignificant is the soft markers may appear. Referral to foetal medicine specialist is
recommended & for aneuploidy counselling. This is also true for 1) increased
NT above 6 mm, 2) dilated renal pelvis > 7mm, 3) ventriculomegaly > 10mm. 4) echogenic bowel
(same density as bones). ALL SUCH SOFT MARKERS à mandate aneuploidy counselling. But if serum markers too are positive then obviously USG detected any soft
markers (of minimal concern) have some relevance in such cases referral to
foetal medicine expert.
Which soft markers are innocouos and do not warrant
referral?
1)
Dilated cistern Magna,2) Echogenic foci on the heart 3) two vessel cord.
What is the detection rate of structural
malformation?
Obesity is an
impediment to have clear picture of foetus and therefore in DM cases many a
malformation are missed. Even by experts. The detection rates are in the range
of severe cardiac malformation (50% only), Skeletal dysplasia (DR= 60% only
i.e. 40% are missed),cleft lip (75%), Diaphragmatic hernia(60%) and Exomphalos
and bilateral Renal agenesis are detected in 80% only and 20% of such anomalies
are missed!! Similarly in 10% cases of OSD is missed. But detection rate is
high95-98% in cases with Anencephaly, Gastroschisis, Trisomy 13(Patau syndrome)
& trisomy 18(Edwards). Further, many anomalies are missed due to late
appearance of those CM.
Should we routinely perform anomaly scan to all low
risk women even if first trimester sac &srum markers are negative? –At UK-yes. Better just after 20 weeks so that organs could be
visualized properly. So also Foetal Echo.(Foetal Medicine Book-Cameron).The
prevalence of structural anomalies is a follows:- in pregnancy(2-3%), Of al
still births(10%),of all NND(as many as 25%).
Hydrocephalus. :
Classification of hydrocephalus.
- This term is reserved for cases where a) there is
continued excessive production of CSF in the lat ventricles or b)
Obstruction in the drainage system of CSF-Aqueduct stenos is Obstructive hydrocephalus.
3) Aqueductal Stenos
is. - Cause, Treatment and Recurrence Risk.
A)
X- linked / autosomal recessive genetic cause,
B)
Rec. Risk is 2 %( see pp. 1530- Book No. FOGSI
-First USG Book).
C)
Measurements and Diag, - Lat ventricles are
usually measured from midline to lat border.
Also measured is the corresponding
hemisphere. Then a ratio is calculated called LVHW (Lat ventricle:
corresponding hemisphere width). This ratio is normally-71% upto 18 weeks and
later reduced to 33% after 18 weeks. The sequence of dilatation is post horn,
then body and lastly Ant horns. There is usually no dil of Th. Borderline
ventriculomegaly may resolve and may have no consequence in vast majority of
cases. But even isolated borderline ventriculomegaly has an abnormal outcome in
20 percent cases with a 4 percent risk of perinatal death and another 4 percent
having chromosomal aberrations.
Severe ventriculomegaly is often a
result of obstruction to CSF flow at some level. In these cases the level of
obstruction needs to be identified as well as the cause of obstruction. The
cortical thickness also affects the prognosis.
The cases with mild ventriculomegaly
are more often associated with chromosomal defects and hence warrant a detailed
sonographic examination to look for other detectable stigmata of various
syndromes. The risk of Aneuploidies may be as high as 36 percent in presence of
associated malformations.
The risk of non chromosomal
syndromes like Miller-Dicker, Goldenhar, Meckel-Gruber and many others is also
high.
A FETUS WITH VENTRICULOMEGALY SHOULD
ALWAYS UNDERGO KARYOTYPE and MOTHER SHOULD BE SCREENED FOR INFECTIONS.
What are the possibilities of CM in following conditions?
1)1f F/H/O NTD or
CHD
:- 5% chance 2) F/H.O
Cleft lip:-4% 3) H/O
consumption of Anticonvulsant :-5% 4) CMV:- 25% 5) Twin
gestation:- 3%.
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