For any foetal
problem be it anatomic / genetic such abnormalities are usually but not
always it is reflected on NT changes .
Why it happens is unclear. As gestation changes - NT
varies as per CRL. .If the risk
calculation (statistical risk probability) is above 1: 50 then only CVS
procedure for confirmation.
Risk stratification: We always
are concerned about probability
of chromosomal abnormality in any foetus ? If mother has one child with Down’s syndrome, than recurrent risk will be 2%.
. The chromosome analysis can be done either by 1) cell culture( traditional karyotyping) or by more recently FISH method ( Fluorescent In situ Hybridization).. In FISH
method Fluorescent probe is used on the
nuclei of amniocytes one signal means that the said nucleus is having monosomy
( Fluorescent probe), two signals means euploid nucleus and if some nuclei
reveals three florescent signals it applies trisomy..
FISH:- Usually there are five DNA probes(probes
with Fluoro Chrome) are
used like 1) LS-1--21, 2) CEP-18, 3)
LS-1-13 4 & 5 ) CEP- two Sex chromatins , The
cells which shows two different signals after FISH procedure means normal cells
i. e diploid chromosome with no alteration in number or decrease in number.& 5) Usually five chromosomes are studied in nuclei of amniocytes .like 21, 13, 18
and two sex chromosomes. This tets of FISH may occasionally exhibit trisomy or monosomy.
Normally NT steadily
increase for the period foetal CRL
from 44 mm to 85 mm .What is normal NT(subcutaneous
fluid collection behind the nape of the neck??
The fluid thickness is for a CRL
of 45 mm ( means 11 weeks ) will be 1.9 mm in 85 percentile and 50 percentile NT will be
& NT will in 85 mm ( CRL at 13.6 ) but it will be 2.8
mm in 95 percentile
The nuchal translucency
has to be differentiated from with cystic hygroma which are two dilated
Inguinal lymphatic sac or Tr
scar it the level of neck which
is septate for NT
Medical geneticist > > 20 mm . Better cordo –
P/M, H/P
High res
scan – no foetal anatomical defect ( cardiac
defect then go for CVS
The NT is
only reliable from 45 - 84
mm caliper of
USG should be able
to read upto 0.1 mm.
Sonoembryology:_---A) UPT will be + 13 day after
ovulation dose (trigger) but B) in blood earlier (RIA method
) + 9 days after
ovulation .Therefore estimation hCG
5 days after test ovulation done of hcg . Average of 3
CRL measurements sac ( GDS)
Menstrual week
4th M . Week = 2 mm sac
5thM. Week
= 5mm
sac
6th M. week = 10 mm sac
7th M. week = 20 mm sac
8 th M. week = 25mm sac
Vaginally
USG:-- sac is visible when serum beta HCG is >
1500 to 1000 . But in abd USG(TAS) sac
is visible when hCG is > 3000. But usually
at 5th Weeks = SAC is visible almost always. By the end of 6th weeks = Y. sac and cardiac activity seen .At 8th weeks limb
buds are usually seen.
Biochemical pregancy?? :-
When two hcg values are greater than 10 IU/ lit
then at this juncture if sac is not visible - then it is called “Biochemical Pregnancy”.
Average 5
days + possible even in first trimester usg
Clinical
preg = Sac visible
hCG
at missed dose ?
At the time of
missed period (expected day of cycle, hcg in blood will be
100miu/ ml
16-23
day= 10-30 IU
24-30
days =
30-100 IU
31-38 days = 10,000 to 16000 IU
Day 35- day
45 =
200-4000 IU
2-3 mm =12000-200,000 IU
12weeks
= 10,000 IU
Second Tri =
24000 – 55000 IU
3rd
Trimester 6000-48000 IU
Viability Scan :-
1)
Blighted ovum
- GSD > 8mm but there is no Y
sac in the USG . 2) Anembryonic pregnancy. GSD > 16 mm , no foetal . p. signs of failing IUP, ) bradycardia in relation
to CRL , MSD , CRL
is < 5mm I e
oligomaniotic sac , Poor sac
growth profile , large Y. sac > 5.6
mm prior to 10 weeks / abnormal Y.
sac , disappearance of CL
Normally rise of beta hCG is > 1.24 times , >
1.53, times , >1.88 times & > 2.33 times in 24
h , 48 h , 72 h & 96 hours but in ectopic there will be only 20% rise of B hCG . If no intra uterine preg is visible preg
then possibilities are a) EP b) missed abortion c) failing IUP or d) self resolution of EP
Always perform USG if B hCG is above 1500
. If at such beta HCG( above 1500)
sac is demonstrated at USG then in all fairness it is =normal pregancy, no sac either medical
treatment MTX or better
RPT b hCG after 48
hours prog is less than 10 .
In abdominal USG sac should be visible
when HCG level
will be increases 6500 IU/ lit or
In normal
pregancy the rise of b hCG will be >
55% by 48 hours & at least > 88 % by 72 hours
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