<p>Pregnancy for women marks the beginning of a new stage in their lives. Like any other parent, Juhi (name changed) was excited when she learned about her pregnancy. She had suffered a miscarriage previously as her foetus was affected by down syndrome. While consulting with a geneticist, she was advised of a few options that included a non-invasive prenatal test (NIPT) to help screen for down syndrome and a few other chromosomal disorders. She chose NIPT and waited anxiously for the results. The results arrived soon enough, and it was observed that Juhi’s baby had a very low or negligible risk of having a serious chromosomal disorder. A few months later she delivered a healthy baby girl. Juhi was elated with the outcome and also understood the value of a genetic test and now advises all her relatives to undergo a prenatal screening test. A non-invasive prenatal screening test provides expecting parents with reliable information about their baby’s genetic makeup. Such information is vital to expectant parents for thought-through early pregnancy decisions and to avoid the distress caused by the birth of an abnormal baby unexpectedly.</p>.<p class="Question"><strong>What are chromosomal<br />disorders?</strong></p>.<p>The human genetic material consists of 23 pairs of chromosomes. Therefore, any change in this number, wherein extra gain or loss of chromosome can lead to a serious disorder. The most common of these disorders are, Trisomy 21, Trisomy 18 and Trisomy 13, in the population. The estimated risk incidence of a baby with a chromosomal disorder is 1:166 births. Therefore, standard pregnancy care involves early screening for serious chromosomal abnormalities.</p>.<p>Genetic screening tests allow for identifying the genetic disorders or potential risks that the unborn baby may carry. NIPT (Non-Invasive Prenatal Test) has brought precision to the practice of diagnosis. With the advancement in technology, tests have been developed that are safe for the foetus and non-invasive. The non-invasive prenatal screening test can screen for common chromosomal abnormalities such as Trisomy 21(Down syndrome), Trisomy 18 (Edward syndrome), Trisomy 13 (Patau syndrome) and certain other abnormalities like monosomy X (Turner’s syndrome). There are three main reasons why couples should opt for a test:</p>.<p>It helps identify foetuses at risk of serious chromosomal abnormality.</p>.<p>Leads to better management by providing early information.</p>.<p>Prepares for birth and early intervention wherever possible.</p>.<p class="Question"><strong>Who needs to get tested?</strong></p>.<p>Non-invasive prenatal testing can be recommended to any pregnant woman but is usually recommended when:</p>.<p>The woman is above 30 years of age. Maternal serum screening provides abnormal results.</p>.<p>Certain abnormalities during the ultrasound are identified.</p>.<p>There is a family history of chromosomal conditions or congenital disabilities.</p>.<p>Couples have had a child with a chromosomal disorder.</p>.<p>A couple has a history of infertility or pregnancy loss.</p>.<p>Genetic testing of the pregnancy remains important as pregnancy is a time-sensitive period. When the general pregnant population is screened, most pregnancies eventually have a low risk of these conditions. However, about 2-3% of the tested population by NIPT, receive a high–risk result which requires follow up confirmatory testing through invasive procedures.<br /> </p>.<p><em><span class="italic">(The author is an expert at reproductive genomics.) </span></em></p>
<p>Pregnancy for women marks the beginning of a new stage in their lives. Like any other parent, Juhi (name changed) was excited when she learned about her pregnancy. She had suffered a miscarriage previously as her foetus was affected by down syndrome. While consulting with a geneticist, she was advised of a few options that included a non-invasive prenatal test (NIPT) to help screen for down syndrome and a few other chromosomal disorders. She chose NIPT and waited anxiously for the results. The results arrived soon enough, and it was observed that Juhi’s baby had a very low or negligible risk of having a serious chromosomal disorder. A few months later she delivered a healthy baby girl. Juhi was elated with the outcome and also understood the value of a genetic test and now advises all her relatives to undergo a prenatal screening test. A non-invasive prenatal screening test provides expecting parents with reliable information about their baby’s genetic makeup. Such information is vital to expectant parents for thought-through early pregnancy decisions and to avoid the distress caused by the birth of an abnormal baby unexpectedly.</p>.<p class="Question"><strong>What are chromosomal<br />disorders?</strong></p>.<p>The human genetic material consists of 23 pairs of chromosomes. Therefore, any change in this number, wherein extra gain or loss of chromosome can lead to a serious disorder. The most common of these disorders are, Trisomy 21, Trisomy 18 and Trisomy 13, in the population. The estimated risk incidence of a baby with a chromosomal disorder is 1:166 births. Therefore, standard pregnancy care involves early screening for serious chromosomal abnormalities.</p>.<p>Genetic screening tests allow for identifying the genetic disorders or potential risks that the unborn baby may carry. NIPT (Non-Invasive Prenatal Test) has brought precision to the practice of diagnosis. With the advancement in technology, tests have been developed that are safe for the foetus and non-invasive. The non-invasive prenatal screening test can screen for common chromosomal abnormalities such as Trisomy 21(Down syndrome), Trisomy 18 (Edward syndrome), Trisomy 13 (Patau syndrome) and certain other abnormalities like monosomy X (Turner’s syndrome). There are three main reasons why couples should opt for a test:</p>.<p>It helps identify foetuses at risk of serious chromosomal abnormality.</p>.<p>Leads to better management by providing early information.</p>.<p>Prepares for birth and early intervention wherever possible.</p>.<p class="Question"><strong>Who needs to get tested?</strong></p>.<p>Non-invasive prenatal testing can be recommended to any pregnant woman but is usually recommended when:</p>.<p>The woman is above 30 years of age. Maternal serum screening provides abnormal results.</p>.<p>Certain abnormalities during the ultrasound are identified.</p>.<p>There is a family history of chromosomal conditions or congenital disabilities.</p>.<p>Couples have had a child with a chromosomal disorder.</p>.<p>A couple has a history of infertility or pregnancy loss.</p>.<p>Genetic testing of the pregnancy remains important as pregnancy is a time-sensitive period. When the general pregnant population is screened, most pregnancies eventually have a low risk of these conditions. However, about 2-3% of the tested population by NIPT, receive a high–risk result which requires follow up confirmatory testing through invasive procedures.<br /> </p>.<p><em><span class="italic">(The author is an expert at reproductive genomics.) </span></em></p>