Wednesday, 13 May 2020

Foetal chromosomal abnormalities & N T Scan


Early screening for chromosomal abnormalities-/ Cardiac defects -How?? Q. 1: How important is  record in the repot page of NT sac  on nasal bone, ductus venosus flow and tricuspid flow?? Ans: The combination of NT and maternal serum free β-hCG and PAPP-A improves the detection to 90%. But if the nasal bone, ductus venosus flow and tricuspid flow are included for statistical risk calculation of aneuploidy of foetus then the detection rate can increase to about 95% and the false positive rate can be reduced to 3%
:

Q.2: How to calculate NT ?? Point 1:-What is meant by NT? Ans:- Nuchal translucency (NT) is the sonographic appearance of a a) collection of fluid under the skin behind the fetal neck in the first-trimester of pregnancy. The term translucency is used, The fluid as imaged may be  b)  septated or not . c) Moreover one has to ignore whether it is confined to the neck or  fluid envelopes the whole fetus.

·         Q.3: What is the  relevance of increased Nuchal translucency (NT) as per gestation age?? Ans:  This thickness of sonographic appearance of collection of fluid under the skin behind the fetal neck in the first-trimester of pregnancy also offers an indication that fetuses may have(but not always)  chromosomal abnormalities, cardiac defects and many genetic syndromes the NT thickness is increased. The defects that can be suspected from excess NT & blood flow, Nasal bones imaging  are such as Down syndromeEdward's syndrome (trisomy 18), trisomy 13 and many other chromosomal abnormalities as well as heart problems.

 This is a statistical possibility of having such 4 risks like  1) chromosomal abnormalities, 2) cardiac defects and  3) many genetic syndromes,. But this  scan finding are risk calculation (screening tets and not diagnostic).

Q. 4: :- What is the detection rate:??---Screening by NT can detect about 80% of fetuses with trisomy 21 and other major aneuploides for a false positive rate of 5%.. So put in another way NT alone misses about 20% aneuploidies.


  • Q.5: Which Lab is reliable?? Where to send serum of pregnant mother for double marker?? Ans:-Measurement of maternal serum free β-hCG and PAPP-A by laboratories that can demonstrate good quality assurance performance( dedicated lab) , However , the FMF software for the calculation of risks. In addition to the FMF audit, all sonographers are encouraged to perform their own internal quality assurance on a monthly basis by examining their NT distribution using the automated audit module incorporated within the FMF risk calculation software.
  • The name of the sonographer will be removed from the FMF website list of holders of the Certificate of competence in NT. their FMF software license will be revoked. In such case the sonographer will need to be retrained and apply for recertification by attending the FMF internet based course on the 11-13 weeks scan and submitting the appropriate logbook of images.

A risk calculation program that uses an algorithm based on scientific evidence. The software companies that use this algorithm are Astraia Software GmbHViewPoint GE Healthcare and Zeitgeist Health SE.
1.                                                                                                                                                                  Appropriate counseling of the parents.
Q. 6: Why lab is so important ?? Ans: All the Software is important for risk calculation: A risk calculation program that uses an algorithm based on scientific evidence. The software companies that use this algorithm are Astraia Software GmbHViewPoint GE Healthcare and Zeitgeist Health SE.
 Q. 6: Why lab is so important ?? Ans: All the Software is important for risk calculation: A risk calculation program that uses an algorithm based on scientific evidence. The software companies that use this algorithm Software is  for first-trimester screening for chromosomal abnormalities by a) maternal age, b) fetal NT thickness and c) maternal serum free β-hCG and d) PAPP-A. e)Multiple pregancy f) BMI    f) spontaneous preg/ ART .g) maternal diabetes etc.   Should the concerned lab  wish to use the additional markers for chromosomal abnormalities (nasal bone, tricuspid flow and ductus venosus flow) they may do so but all risk calculation by Software only
  • Q.7: How measure nuchal translucency very correctly? Ans:  The screen should be at least 2/3rd occupied by the foetal head &neck and foetus should   look face up that nape of the neck is clearly visible. One has to  wait till  foetal movement ceases for a second and  to take the opportunity to then freeze   the  image immediately Sonographer must have patience may have for couple of seconds till CRL is in the straight line(no bending of foetus) The fetus should be in a neutral position, with the head in line with the spine. When the fetal neck is hyperextended the measurement can be falsely increased and when the neck is flexed, the measurement can be falsely decreased.

 


Excess nuchal translucency? More than normal
Head up
  • NT scan :-Tips for fresh sonologist : Tip 1:  The gestational period must be 11 to 13 weeks and six days. To put in other ways the fetal crown-rump length should be between 45 and 84mm. The date of N T scan is often prefixed with USG center when booking scan is contemplated.
  • Tip 2 :  The magnification of the image should be such that the fetal head and thorax occupy the whole screen. A mid-sagittal view of the face should be obtained. This is defined by the presence of the echogenic tip of the nose and rectangular shape of the palate anteriorly, the translucent diencephalon in the centre and the nuchal membrane posteriorly. Minor deviations from the exact midline plane would cause non-visualization of the tip of the nose and visibility of the maxilla.
  • Tip 3:  Care must be taken to distinguish between fetal skin and amnion. The widest part of translucency must always be measured.
  • Tip 4:  Measurements should be taken with the inner border of the horizontal line of the callipers placed ON the line that defines the nuchal translucency thickness - the crossbar of the calliper should be such that it is hardly visible as it merges with the white line of the border, not in the nuchal fluid.
  • In magnifying the image (pre or post freeze zoom) it is important to turn the gain down. This avoids the mistake of placing the calliper on the fuzzy edge of the line which causes an underestimate of the nuchal measurement.
  • Tip 5 :  During the scan more than one measurement must be taken and the maximum one that meets all the above criteria should be recorded in the database.
  • The umbilical cord may be round the fetal neck in about 5% of cases and this finding may produce a falsely increased NT. In such cases, the measurements of NT above and below the cord are different and, in the calculation of risk, it is more appropriate to use the average of the two measurements
·         Tip 8:-What are the limitations of of NT scan or double markers in sera ?? -We the Obstetrician must remember that this test can't diagnose birth defects. It only shows =foetus  has a greater risk than average.Sometimes test results are combined with a second- trimester screening( Quad serum screening) . In that case, the concerned woman   may not get test results until her  second trimester. Or she may get the results, and then get combined results after the second test (combined tets) .
  •  
·         he first trimester screening is a safe, optional test for all pregnant women. It's a way of checking your baby's risk of certain birth defects,

·         --What the Test Does  in Double marker  ??

·         To tell at the reception of USG center that “I am not in a hurry. Sonologist Ma’m can call me according to her convince when work load is less ”:
·         What is double marker?? The screening involves. a blood test which estimates   levels of two substances –e g.  1) pregnancy-associated plasma protein-A (PAPP-A) and 2) free beta human chorionic gonadotropin.  These are expressed as Mean of Median (MoM) Again it is an statistical evolution of possible risk.  Quite often such serum tests are planned on the day of N T scan to minimize visits to Lab & Clinic.
·         As mentioned  earlier if she has a booking visit USG done  then (dating scan at 6-8 weeks)   at your clinic  then planning the date of NT scan & Serum markers can be  fixed up well ahead. Inform your patients go USG center after lunch as in morning session there is too rush.  You must wait with enough time and to tell the  at the reception counter that she is not in a hurry  and sonologist can perform N T scan according his/ her convenience., Because it takes about 10-15 minutes to do a NT scan along with Doppler studies of foetal vessels and uterine Doppler as well.
·         A special ultrasound, called a nuchal translucency screening, measures foetal nasal bone as well as the fluid at the back of foetal neck. A high volume of fluid can be a sign of problems.

No comments:

Post a Comment