Which is Non-Invasive Pre-Natal Testing (NIPT) among the following?
Correct Answer: Maternal serum for Down's Syndrome
Description: (D) Maternal serum for Down's Syndrome[?]Noninvasive Prenatal Testing (NIPT)For couples, who are expecting a baby, non-invasive testing during pregnancy will help to determine the chances of fetus being born with some common chromosomal conditions.NIPT is a single blood test that uses cutting edge technology to screen pregnant women for Chromosome problems as early as 10 weeks in pregnancy.NIPT is useful as screening forDown's syndromeEdward SyndromePatau SyndromeTurner SyndromeNoninvasive prenatal screening offers an early method of detecting certain fetal chromosomal abnormalities.NIPT is applicable for high risk women likeAdvanced maternal age >35 yearsPositive Triple or Quadruple or First Trimester screenA structural finding on USG suggesting aneuploidyA previous trisomy birthA known balanced trans-location in apparent or parent of the partner.Other Options[?]Testing on Maternal Tissue:For many inborn errors the metabolic defect is generalised and both amniotic and chorion villus cells can be used as a diagnostic tissue[?]Amniocentesis for evaluation of fetal chromosomal anomalies:A procedure performed usually in the beginning of pregnancy to detect chromosomal abnormalities in the fetusUsually done when a woman is between 16 and 22 weeks pregnant.During this procedure a sample of amniotic fluid is taken from the amniotic sac (amnion) surrounding the unbornbaby and its DNA is examined for genetic abnormalities.The amniotic fluid - has cells that the skin of the developing baby has shed, as well as his/her waste products. Each cell from the baby in the fluid contains their complete set of DNA (genetic information).Analyzing these cells helps the doctors assess the fetus' health and detect any potential problems.The entire amniocentesis appointment lasts approximately 45 minutes- most of which involves a detailed ultrasound examination.Nearly ail chromosome disorders, including Down's Syndrome as well as sex chromosome abnormalities (such as Turner syndrome & Klinefelter syndrome).Several hundred genetic disorders, such as cystic fibrosis and sickle cell disease.The test is not used to look for all of them, but if your baby is at increased risk for one or more of these disorders, in most cases amniocentesis can usually tell you whether he has the diseaseNeural tube defects such as spina bifida.Amniocentesis is the only way to obtain information about fetal lung maturity.[?]Pre-conception gene testing on ova:Prenatal testing for genetic disorders;1. In the past, amniocentesis or chorionic villi sampling were the best methods to test for a genetic disorder2. Ova can be retrieved from the ovary to test for abnormal allelesGenomics 1. Molecular analysis of a genome - all the genetic information in all the chromosomes of an individual; 2. Two ways researchers have attempted to map the human chromosomes.
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Pediatrics
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