PBL-4 WILL THIS HAPPEN AGAIN?

LEARNING GOALS:

1-Epicanthal fold: It is the skin fold of upper eyelid covering the inner corner of
the eye. It is a congenital abnormality and is important diagnostic finding in
conditions like down syndrome.

2-CONGENITAL: When a baby has a condition present from a birth it is called

congenital.

3-SIMIAN CREASE: It is single line that runs across palm of the hand. It is now
usually called single palmer crease and transverse palmer crease. People
usually have three creases and is formed during 12th week of gestation.

4-ABORTION: Termination of pregnancy by removal or expulsion of an embryo

or fetus before it survive outside. When fetus has potential to survive outside
the womb is then known as late termination of pregnancy.

5-KARYOTYPE: It is the process of pairing and ordering all the chromosomes of

an organism. It reveals the changes in human chromosome number. During
prenatal period amniotic fluid or chorionic villus is used.

6-FISH: It stands for fluorescence in situ hybridization. It is a molecular

cytogentic technique that tags genetic material with fluorescent molecules.
It is useful for identifying chromosomes and parts of it. It is done to detect
abnormalities and mapping genes.

7- AFP: It stands for alpha-fetoprotein. It is a plasma protein and is made in the

liver of an unborn baby. Usually amount of AFP present in women’s blood is
identified which helps to diagnose the problems in baby like spina bifida,
anecephaly. It is generally checked between 15 to 20 weeks of pregnancy. Non
pregnant women have less than 10ng/ml of AFP and pregnant women have 10
to 150ng/ml.

8-UE3: It stand for unconjugated estrol 3. There are 3 major biologically active
estrogens namely estrone, estradiol, estrol. During pregnancy estrol becomes
dominant. The fetal adrenal gland secrets dehydropiandrosterosulphate which
is converted to estrol in placenta.

Chromosomal Abnormalities:
Numerical abnormalities
Down syndrome (trisomy 21):
An error occurs when the 46 chromosomes are being divided in half. An egg or sperm cell
may keep both copies of chromosome number 21, instead of just 1 copy. If this egg or
sperm is fertilized, then the baby will have 3 copies of chromosome number 21. This is
called trisomy 21.

Trisomy 18 & 13:

An error occurs when the 46 chromosomes are being divided in half. An egg or sperm cell
may keep both copies of chromosome number 13 or 18, instead of just 1 copy. If this egg or
sperm is fertilized, then the baby will have 3 copies of chromosome number 13 or 18. If the
baby has 3 copies of chromosome number 13, this is called trisomy 13. If the baby has 3
copies of chromosome number 18, this is called trisomy 18. The extra copy of chromosome
number 13 or number 18 is present in every cell in the body.

TURNER’S SYNDROME:

There are 2 types of Turner syndrome: monosomy X TS and mosaic TS. About half of all girls
with Turner syndrome have a monosomy disorder. Monosomy means that a person is
missing one chromosome in the pair. Instead of 46 chromosomes, the person has only 45
chromosomes. This means a girl with TS has only one X chromosome in her 23rd pair.
Sometimes an error occurs when an egg or sperm cell is forming, causing it to have a
missing sex chromosome. But it is usually an error that happened by chance when the
father's sperm cell was forming. The missing sex chromosome error can occur in either the
mother's egg cell or the father's sperm cell.
Structural Abnormalities
Translocation:

The term translocation is used when the location of specific chromosome material changes.
There are two main types of translocations: reciprocal and Robertsonian. In a reciprocal
translocation, two different chromosomes have exchanged segments with each other. In a
Robertsonian translocation, an entire chromosome attaches to another at the centromere.
The centromere is the center part of a chromosome that looks pinched between the p and q
arms. This newly formed chromosome is called the translocation chromosome .

Translocation Down Syndrome:

Translocation Down syndrome is a type of Down syndrome that is caused when one
chromosome breaks off and attaches to another chromosome. In this case, there are three
21 chromosomes but one of the 21 chromosomes is attached to another chromosome. The
genetic material from the extra 21 chromosome is what causes the health problems that are
caused by Down syndrome. In translocation Down syndrome, the extra 21 chromosome
may be attached to the 14 chromosome, or to other chromosome numbers like 13, 15, or
22. In some cases, two 21 chromosomes can be attached to each other.

Mosaicism

An error in mitosis, a cell doesn’t split evenly into 2 cells. The result is that some cells
have the normal number of 46 chromosomes, and other cells have more (47) or fewer
(45) chromosomes.

Mosaicism Down Syndrome:

Mosaicism or mosaic Down syndrome is diagnosed when there is a mixture of two types
of cells. Some have the usual 46 chromosomes and some have 47. Those cells with 47
chromosomes have an extra chromosome 21. Mosaicism is usually described as a
percentage. Typically, 20 different cells are analyzed in a chromosome study.
Congenital Heart Problems:
 Holes in the heart (atrioventricular canal defect)
 Obstructed blood flow (Pulmonary or aortic stenosis)
 Abnormal blood vessels (Caorctation and total anomalous pulmonary venus connection)
 Heart valve abnormalities (Ebstein anomaly and pulmonary atresia)
 An underdeveloped heart (Hypoplastic left heart syndrome)
 Combination of defects (Tetralogy of Fallot)

The Negligence of Doctor:

The patient was at a very young age when she got pregnant for the first time. From her first
child she started getting abortions, but her gynecologist didn’t ask her for proper genetic
counseling earlier to check for any abnormality or for the problem causing these abortions.
The one child who born also died due to complex congenital heart problem for which no
intervention was performed and so he died as well. No tests were performed to check the
problems of the 2 y/o child accompanying her. No amniocentesis or any other tests were
done to diagnose his down syndrome before his birth.