IMMACULATE CONCEPTION ACADEMY OF BATAC,

INC.
Proud Member of the DIOCESE OF LAOAG CATHOLIC EDUCATIONAL SYSTEM
Improving Capabilities and Attitudes
Brgy. 1-S Valdez, City of Batac, Ilocos Norte

CYSTIC FIBROSIS

Submitted by:
Jay Lord Malabed

Submitted to:
Mr. John Patrick Maggay
 IMMACULATE CONCEPTION ACADEMY OF BATAC,
INC.
Proud Member of the DIOCESE OF LAOAG CATHOLIC EDUCATIONAL SYSTEM
Improving Capabilities and Attitudes
Brgy. 1-S Valdez, City of Batac, Ilocos Norte

You are a genetic counselor who is helping a couple understand the likelihood of their
child inheriting a specific genetic disorder. You will need to use your knowledge or genetics
and inheritance to explain the risks and offer advice to the couple.

Case Study:
John and Jane are a couple who are expecting their first child. They are both carriers
of a genetic disorder called cystic fibrosis, which is caused by a mutation in the CFTR gene.
Jane's brother also has cystic fibrosis. John and Jane are concerned about the likelihood of
their child inheriting the disorder and would like to know what their options are.
 IMMACULATE CONCEPTION ACADEMY OF BATAC,
INC.
Proud Member of the DIOCESE OF LAOAG CATHOLIC EDUCATIONAL SYSTEM
Improving Capabilities and Attitudes
Brgy. 1-S Valdez, City of Batac, Ilocos Norte

INTRODUCTION

Cystic fibrosis is a hereditary disorder that affects the body's proteins. Cystic fibrosis
patients have a defective protein that affects the body's cells, tissues, and glands that produce
mucus and sweat.

Mucus generally protects the linings of the lungs, digestive system, and other organs
and tissues by being slippery. Cystic fibrosis is a condition in which thick, sticky mucus
accumulates in the lungs, digestive tract, and other parts of the body; it can cause blockages,
damage, or infections in the afflicted organs. Cystic fibrosis is a genetic disorder caused by
mutations in the cystic fibrosis transmembrane conductance regulator gene. The cystic
fibrosis transmembrane conductance regulator protein is found in all mucus-producing organs
of the body, including the lungs, liver, pancreas, and intestines, as well as sweat glands.

The cystic fibrosis transmembrane conductance regulator protein aids in the

maintenance of salt and water balance on various body surfaces, including the surface of the
lung. When a protein fails to function properly, chloride, a salt component, becomes trapped
in cells.
 It is one of the most prevalent chronic pulmonary disorders in children and
adolescents. It is a potentially fatal condition. The most significant and prevalent symptoms
of cystic fibrosis, also known as pulmonary or respiratory difficulties, may include serious
lung infections. People with cystic fibrosis frequently struggle with nutrition because they
have difficulty absorbing nutrients from meals. This is an issue that has the potential to slow
progress.

BACKGROUND INFORMATION

Cystic fibrosis is one of the most common genetic diseases in white Americans,
affecting one out of every 3,200 live births. It affects 1 in 17,000 African Americans, 1 in
31,000 Asian Americans, and 1 in 31,000 Native Americans. While still uncommon in
Hispanics, it is becoming more common over time (1 in 4,000 to 10,000).

If both parents are carriers, there is a 1 in 4 chance that their child will not have cystic
fibrosis or be able to pass it on, a 1 in 2 chance that their child will inherit a defective gene
from one parent and be a carrier, and a 1 in 4 chance that their child will inherit the defective
gene from both parents and have cystic fibrosis.

The CFTR gene is inherited twice (g), once from each parent. Each child has a 25%
chance of inheriting two normal genes (G), a 50% chance of inheriting one normal gene and
one gene with a mutation and being a cystic fibrosis carrier, and a 25% chance of inheriting
two genes with mutations and having cystic fibrosis if each parent has a normal CFTR gene
and a mutated CFTR gene.

The "natural" process of becoming pregnant might be challenging or even impossible

for some women with cystic fibrosis and the majority of males. Nevertheless, they are still
able to conceive biological children by using assisted reproductive technologies. Assisted
reproductive technology covers surrogacy, intrauterine insemination (IUI), in-vitro
fertilization (IVF), and several other methods of fertility treatment.

Due to the blockage or absence of the sperm canal, known as the congenital bilateral
absence of the vas deferens, the majority of males with cystic fibrosis (97–98%) are infertile.
The sperm are there even when the vas deferens is obstructed or absent.

PROPOSED SOLUTION

The procedure of manually uniting an egg cell and sperm cell in a laboratory dish and
then transferring the embryo into the uterus is also known as In-vitro fertilization, this is the
most popular kind of Assisted reproductive technology. This is the most efficient way for
women with cystic fibrosis who are having trouble becoming pregnant or whose partners are
discovered to be genetic carriers, in addition to being the technique necessary for many
partners to conceive a biological child.

During In-vitro fertilization, you can have your embryos examined or screened to
ensure that only healthy embryos are implanted back into the womb. There is also the option
of having one or two tests performed during pregnancy: a chorionic villus sampling test or an
amniocentesis test, both of which can test for hundreds of genetic problems. Chorionic villus
sampling is a prenatal test that involves taking a sample of tissue from the placenta to test for
chromosomal abnormalities and certain other genetic problems. Amniocentesis is a
pregnancy test that involves taking and evaluating a tiny sample of cells from amniotic fluid,
the fluid that surrounds the fetus in the uterus. If the tests are positive, you can next decide if
you will proceed with the pregnancy or discard the embryo. Pre-implantation genetic
diagnosis in IVF allows you to determine and choose the gender of your child. Furthermore,
using pre-implantation genetic diagnosis ensures that adults with an inheritable illness in their
family do not pass it on to their offspring. Pre-implantation genetic testing is a cutting-edge
technique for detecting genetic defects in embryos generated through IVF. The purpose of
PGT is to allow your doctor to choose embryos for transfer that are projected to be free of a
certain genetic disease or chromosomal abnormalities. Pre-implantation genetic testing is an
umbrella term for embryo evaluation prior to implantation or pregnancy.

The success rates for IVF normally range between 20% and 40%. It might be
intimidating to think about because of the financial outlay and psychological strain associated
with IVF.

SOURCES

https://www.cff.org/assisted-reproduction-and-cf
https://www.nhs.uk/conditions/cystic-fibrosis/#:~:text=If%20both%20parents%20are
%20carriers,parent%20and%20be%20a%20carrier
https://www.nhlbi.nih.gov/health/cystic-fibrosis/causes#:~:text=Every%20person%20inherits
%20two%20CFTR,be%20a%20cystic%20fibrosis%20carrier.
https://www.nhlbi.nih.gov/health/cystic-fibrosis#:~:text=Cystic%20fibrosis%20(CF)%20is
%20a,that%20make%20mucus%20and%20sweat.
https://www.cff.org/research-clinical-trials/basics-cftr-protein#:~:text=people%20with
%20CF.-,The%20cystic%20fibrosis%20transmembrane%20conductance%20regulator
%20(CFTR)%20protein%20helps%20to,salt%20%E2%80%94%20becomes%20trapped
%20in%20cells.
https://cystic-fibrosis.com/statistics
https://www.cdc.gov/mmwr/preview/mmwrhtml/00038393.htm#:~:text=Chorionic%20villus
%20sampling%20(CVS)%20and,and%20birth%20defects%20in%20infants.