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Detecting Birth Defects

Author: Sophia

What's Covered


Today you will be looking at various methods that are used in order to detect birth defects in an unborn fetus.  Specifically you will focus on:


  1. Chorionic villus sampling
  2. Amniocentesis
  3. Preimplantation diagnosis

1. CHRIONIC VILLUS SAMPLING

These days there are many types of technologies that help to detect birth defects in an unborn fetus, you will learn about 3 today.

First is chorionic villus sampling, also sometimes abbreviated as CVS. Chorionic villus sampling is a sampling that can be used to detect birth defects as early as the eighth week of pregnancy. With this type of sampling, a tube that has a suction end is inserted through the vagina up into the uterus and suck out a small sampling of chorionic villus cells. These cells are part of the placenta, which will then be tested for any birth defects at that time.

Term to Know


Chorionic Villus Sampling

A procedure done in the first 10-12 weeks to check for genetic disorders
of the child; a tube with a suction cup at the end is inserted into the
vagina toward the cervix to remove a sample of the chorion.


2. AMNIOCENTESIS

The next test for birth defects is an amniocentesis. This type of technology can be used between the 14th and the 16th weeks of pregnancy and is testing the amniotic fluid the fetus is within. Amniotic fluid contains sloughed off cells of the fetus and if you take a sample of it, certain genetic birth defects can be detected. A needle is inserted into the mother's belly, and then into that amniotic fluid to be drawn out. This is one way that can be used in order to test for these birth defects, by using the cells of the fetus that are found in the amniotic fluid.

Term to Know


Amniocentesis


Literally translates to inserting a needle into the
amnion; an amniocentesis is done in the 14-16th weeks to test for
genetic abnormalities.



3. PREIMPLANTATION

Preimplantation diagnosis is another way you can test for birth defects and is involved with in vitro fertilization. This is the screening of an embryo that has not yet been implanted into the uterus, hence the term preimplantation. This occurs around the eight cell stage of development. One of the cells will be removed and tested for any birth defects, and if it comes out clear they will then implant that embryo into the mother's uterus. 

Term to Know


Preimplantation Diagnosis


The screening of embryos before in vitro
fertilization to ensure they are genetically fine before they are
implanted into the mother.

As with all of these different types of ways to detect birth defects, there are definitely some benefits. A parent would know in advance if their unborn child has any birth defects and can prepare themselves. However, there are some risks associated with them, as well. Some types of ways to detect birth defects, especially with amniocentesis since it is little bit more invasive, can lead, rarely, but sometimes can lead to infections, and other complications. With chorionic villus sampling, one of the risks associated with that is that the child can end up with an abnormal number of fingers and toes because of that process.

Summary

Today you learned about 3 ways to detect birth defects:

  1. Chorionic villus sampling
  2. Amniocentesis
  3. Preimplantation diagnosis

There definitely are some risks and benefits associated with it that the parent would have to weigh before going through with any of these types of technologies.

Good luck.




Source: This work adapted from Sophia Author Amanda Soderlind.

Terms to Know
Amniocentesis

Literally translates to inserting a needle into the amnion; an amniocentesis is done in the 14-16th weeks to test for genetic abnormalities.

Chorionic Villus Sampling

A procedure done in the first 10-12 weeks to check for genetic disorders of the child; a tube with a suction cup at the end is inserted into the vagina toward the cervix to remove a sample of the chorion.

Preimplantation Diagnosis

The screening of embryos before in vitro fertilization to ensure they are genetically fine before they are implanted into the mother.