डाउन सिंड्रोम का बच्चा पैदा हो गया, अब आगे क्या करें? Down syndrome का basics

Описание:    • Nuchal Translucency Scan (NT Scan): Down S...  
#downsyndrome
#mongolism
#trisomy21
#डाउनसिंड्रोम
#डबलमार्कर
#ट्रिपलमार्कर
#doublemarker
#triplemarker
#downsyndromebaby.
#whydownsyndromeHappens
#NTscan.
#babyWithDownsyndrome
#NIPT
#sonography
#sonographyinEarlyPregnancy
#डाउनसिंड्रोमक्योंहोताहै
डाउन सिंड्रोम को जांचने के तरीका, गर्भकाल के शुरूआत में
NT scan means nuchal transluscency. It is a sonographic scan at the back portion of the neck of baby in the mother's womb. It has been correlated with risk of Down syndrome or Mongolism. The other exercise we do is mother's blood test called Double Marker. These are done between 11 to 12 weeks and called Frist Trimester Screen (FTS).
In second trimester, 16 to 18 weeks we can do another test called Triple Marker or Quadruple Marker or Quad marker. Quad marker is mostly done if FTS is not done or as a sequential test to FTS.
With Target scan at 18 weeks we can make out many abnormalities of the baby (but not upto 100%,as they all are screening tests,and if positive, should be confirmed by diagnostic tests, best is Amniocentesis).
It should also be kept in mind that it is not only Down syndrome that affects the baby, there are many submicroscopic chromosomal defects which may be more common than Down syndrome, and may cause developmental delay or learning disability or intellectual delay or autism or heart defects. It is very difficult to screen them by FTS or Target scan and we may need diagnostic Chromosomal Micro array or Exome sequencing whenever there is any suspicion.
NIPT orNIPS non invasive maternal free fetal cell DNA may help to screen many of the chromosomal and sub microscopic deletions or duplications, (the CNVs) before doing invasive diagnostic tests.
Amniocentesis is a confirmatory test for High Risk Double marker or Triple marker Screening test for Aneuploidy ( Down Syndrome etc.) or looking for other submicroscopic CNVs. Cells are from the actual Fetus, so a more preferred source for confirmation.

Source:Reproductive Genetics,March 2018. Clinics obgyn North America.
http://www.drbanerji-fertilityclinic....
www.drbanerji-fertilityclinic.com