Tuesday, 26 November 2019

First trimester scan Nuchal Translucency ;Statistical evaluation of chromosomal abnormalities.


Point 1:-What is meant by NT? Ans:- Nuchal translucency (NT) is the sonographic appearance of a collection of fluid under the skin behind the fetal neck in the first-trimester of pregnancy. The term translucency is used, irrespective of whether it is  a)  septated or not and  b) whether it is confined to the neck or envelopes the whole fetus. Nuchal translucency (NT) is the sonographic appearance of a collection of fluid under the skin behind the fetal neck in the first-trimester of pregnancy. In fetuses with chromosomal abnormalities, cardiac defects and many genetic syndromes the NT thickness is increased.

Point 1:- 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%.

 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 then the detection rate can increase to about 95% and the false positive rate can be reduced to 3%
Early screening for chromosomal abnormalities
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Q. 2:-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.
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.
Software is important for risk calculation: 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. Should they wish to use the additional markers for chromosomal abnormalities (nasal bone, tricuspid flow and ductus venosus flow) they may do so.
Normal nuchal translucency
https://fetalmedicine.org/var/uploads/File/0/0/N/T/_/NT_2k14.jpgHead up


High nuchal translucency
https://fetalmedicine.org/var/uploads/File/0/0/N/T/_/NT_2k14_high.jpg
Head up on
1.                      .
Protocol for measurement
  • The gestational period must be 11 to 13 weeks and six days.
  • The fetal crown-rump length should be between 45 and 84mm.
  • 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.
  • 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.
  • Care must be taken to distinguish between fetal skin and amnion.
  • The widest part of translucency must always be measured.
  • 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.
  • 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
  • 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.
·         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, such as Down syndromeEdward's syndrome (trisomy 18), trisomy 13 and many other chromosomal abnormalities as well as heart problems.

·         What the Test Does

·         The screening involves two steps. A blood test checks for levels of two substances -- pregnancy-associated plasma protein-A (PAPP-A) and human chorionic gonadotropin. A special ultrasound, called a nuchal translucency screening, measures your baby's nasal bone as well as the fluid at the back of your baby's neck. A high volume of fluid can be a sign of problems.
·         The combined result of the blood tests and the ultrasound gives you a sense of your baby's risk. However, it's not a diagnosis. Most women who have an abnormal firsttrimester screening go on to have healthy babies.
·         Whether you get this test is your choice. Some women want the test so they can prepare. Others don't. They may decide that knowing the results wouldn't change anything. Or they feel that the test could result in unnecessary stress and invasive testing. However knowing of possible risks would allow for increased monitoring during your pregnancy as well as giving you delivery options (special hospital, pediatric surgeon availability).

·         How the Test Is Done

·         The first trimester screen won't harm you or your baby. A technician will take a quick blood sample from your arm or fingertip. The nuchal translucency screening is a normal ultrasound. You'll lie on your back while a technician holds a probe against your belly. It will take between 20 to 40 minutes.

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