All Medical Procedures

Amniocentesis is a prenatal test done during the 15-16th week of the pregnancy. Amniocentesis is a procedure where a small sample (less than one ounce) is taken from the amniotic fluid for testing. Amniotic fluid is present around the fetus and acts as a cushion protecting the fetus during the pregnancy. The volume of the fluid taken depends on the baby’s gestational age. The fluid looks like water and consists of various free-floating live fetal cells, tissues, urine along with other chemicals such as Alpha-fetoprotein (AFP) released by the fetus. The sample is sent to the laboratory for further detailed analysis. These substances help in understanding the health of the fetus before birth.

The amniotic fluid is extracted through a fine and long needle from the uterus through the abdomen. The procedure is guided by an ultrasound. Amniocentesis is helpful in detecting any birth defects, condition of the lungs, infections or other complications in the fetus.

Biophysical profile (BPP) test is a prenatal test performed to monitor the health of the fetus. This test is a combination of fetal ultrasound and a nonstress test i.e. heart rate monitoring of the fetus. The test is performed to measure the certain attributes in an unborn child including:

  • Normal breathing of the fetus i.e. continuous rhythmic breathing cycles.
  • Normal heart rate and increased heart rate while any movements.
  • Muscle tone e.g. flexing and extension of limbs, closing and opening of mouth and hands or rotation of the baby’s trunk, etc.
  • Movements of the fetus
  • The amniotic fluid which protects the fetus

Both the fetus ultrasound and nonstress test are allocated scores, based on whether the test criteria has been met or not. If the score is low on a Biophysical profile, the doctor may advise going for some more tests to get a confirmed diagnosis. The biophysical test is usually performed in the last trimester of pregnancy or after the 32nd week of pregnancy. This test is a very safe and noninvasive and doesn’t have any side effects. There is no risk involved in the biophysical test either to the expectant mother or to the fetus.

Chorionic villus sampling (CVS) is a test performed in some pregnant women to screen their babies for the diagnosis of any birth defects or pregnancy-related issues. Chorionic villus sampling can also help in early diagnosis of any chromosomal disorders e.g. Down’s syndrome or for any genetic problems e.g. cystic fibrosis or sickle cell anemia. In Chorionic villus sampling, a small part of the chorionic villi (a small sample of cells) is taken from the placenta and from there it is attached to the wall of the uterus for the diagnosis and testing. The sample to be used for testing can come from either the abdominal or the cervix wall. At the time of pregnancy, the placenta supplies nutrients and oxygen to the unborn baby and also cleans the baby’s blood by taking out the waste.

Chorionic villi are very small wispy protuberances that form the placenta. They develop from the fertilized eggs and share the genetic makeup of the baby. They have the genes which are very similar to the genes of the baby.

Cordocentesis — also known as percutaneous umbilical blood sampling — is a highly specialized prenatal test in which a sample of the baby's blood is removed from the umbilical cord for testing.

Cordocentesis can be used to detect certain blood conditions and infections. Cordocentesis can also be used to deliver blood transfusions and medication to a baby through the umbilical cord.

Use of cordocentesis is decreasing, however, since newer forms of technology can sometimes provide the same information from tests that pose a smaller risk of miscarriage — such as amniocentesis or chorionic villus sampling.

Cordocentesis might be offered when:

  • The desired information can't be obtained any other way
  • Results from other prenatal tests are unclear
  • Test results might have a significant impact on the immediate management of the pregnancy

Fetal ultrasound is a prenatal ultrasound also known as Sonogram. It is an imaging technique which uses high- frequency sound waves, not audible to the human ear, that are transferred by the abdomen through a small device known as a transducer to see inside the abdomen. It is a safe way to examine the growth and development of the baby. As a result, it forms the images of the baby in the uterus. Ultrasound helps to show the images of the developing baby, ovaries, amniotic sac and placenta. It also detects for any birth abnormalities. Fetal ultrasound helps to understand the profile of the growing baby and assists in managing the pregnancy in cases of any genetic defects, if present. The family can plan accordingly whether to continue or terminate the pregnancy. This ultrasound is also used to know the exact gestational age of the unborn.

Fetal ultrasound is usually done during the first trimester and then again in the second trimester (18-20 weeks) usually when the amniotic images are properly visible. Ultrasound can be done frequently in order to keep monitoring the baby’s health.

There is another enhanced imaging technique known as Transvaginal ultrasound, which produces a more magnified image of the baby. In this procedure, the probe is inserted through the vagina. This ultrasound is done usually in the early period of pregnancy to look for any problem in the ovaries or uterus. It helps prevent the risk of early labor as the test can assess if there is any shortening of the cervix.

Gene therapy is a treatment that involves altering the genes inside your body's cells to stop disease.

Genes contain your DNA — the code that controls much of your body's form and function, from making you grow taller to regulating your body systems. Genes that don't work properly can cause disease.

Gene therapy replaces a faulty gene or adds a new gene in an attempt to cure disease or improve your body's ability to fight disease. Gene therapy holds promise for treating a wide range of diseases, including cancer, cystic fibrosis, heart disease, diabetes, hemophilia and AIDS.

Researchers are still studying how and when to use gene therapy. Currently, in the United States, gene therapy is available only as part of a clinical trial.

Genetic testing involves examining your DNA, the chemical database that carries instructions for your body's functions. Genetic testing can reveal changes or alterations in your genes that may cause illness or disease.

Although genetic testing can provide important information for diagnosing, treating and preventing illness, there are limitations. For example, if you're a healthy person, a positive result from genetic testing doesn't always mean you will develop a disease. On the other hand, in some situations, a negative result doesn't guarantee that you won't have a certain disorder.

Talking to your doctor or a genetic counselor about what you will do with the results is an important step in the process of genetic testing.

Quad Screen or Quadruple marker is a blood test done during the second trimester (15-20 weeks) of pregnancy to identify some chromosomal abnormalities birth defects in the unborn baby. The Quad screen test is done to evaluate levels of the multiple substances in the women’s blood as mentioned below.

  • Human chorionic gonadotropin (hCG); a hormone produced by the placenta
  • Alpha-fetoprotein (AFP); a protein produced by the growing baby.
  • Inhibin A; a hormone produced by the placenta
  • Unconjugated Estriol (UE); a hormone produced by baby's liver and placenta

The levels of the above-mentioned substances keep changing every week, during the pregnancy. Hence, before conducting the test it is essential to know the phase and stage of the pregnancy of the woman.  Quad screen test is safe for the baby and helps to identify any chromosomal, some of the genetic defects or developing problems in the unborn baby such as Down's syndrome, problems in the spinal cord, brain or other neural tissues of the central nervous system etc.

There is a significance of each biomarker, identified by Quad Screen test. Each biomarker serves the purpose of identifying the abnormalities in the babies’ health. The higher AFP levels in the blood, identified during the Quad Screen test, help to identify neural problems like spina bifida. However, if the AFP levels are low, then the woman is at the risk of bearing the baby with Down’s syndrome. The high levels of hCG and inhibin A also indicate the risk of Down’s syndrome. If unconjugated estriol levels are low, the woman is again at risk of Down's syndrome. 

The test provides certainty of a healthy pregnancy if the risk level is low. Approximately, 1 in 720 babies has Down’s syndrome at the time of birth. A Quad test can diagnose 85-90% of the cases of Down’s syndrome in the women aged 35 or above and hence is a very effective test and is critical for the expecting mothers to undertake.


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