- MICROARRAY CGH
The
C.A.R.E Clinic (South Africa) led by Dr Ramdeo have accomplished
another milestone by achieving their first CGH pregnancy, believed to
be the first in Africa and South Africa. The patient who is currently
15 weeks pregnant has polycystic ovarian disease (PCOS) and
endometriosis. Her husband presented with a severe sperm factor problem
(severe oligospermia) with spermatogenic arrest due to contracting
chicken pox as an adult. The couple have been trying to conceive for 6
years and were successful in falling pregnant on their first IVF
treatment at C.A.R.E Clinic.
This advance in technology could bring hope to many couples struggling to have a baby and going through many IVF cycles.
What is microarray comparative genomic hybridization (CGH)?
Microarray CGH is an advance in technology and is a new and accurate
screening test that detects a loss or gain of chromosomes. It is more
sensitive than the standard test (FISH) which has the limitation of
only testing 4 or 5 chromosomes at a time. Microarray CGH can analyze
all 46 chromosomes in a single test and may discover an abnormality
that would not have been detected by FISH.
To understand how microarray CGH works, you have to understand a little about DNA, genes and chromosomes.
What is DNA?
DNA (deoxyribose nucleic acid) is life’s genetic code that enables
various cells to develop and work together to form a fully functional
body, and controls characteristics such as eye colour. The information
in DNA is stored as a code in the nucleus of a cell and is made up of
four different chemical bases. The bases are adenine (A), thymine (T),
guanine (G) and cytosine (C). Because of their chemical nature, A will
link with T and G will link with C.

What is a gene?
A gene is a unit of heredity in a living organism. It is a short piece
of DNA that tells the body how to build a specific protein. Genes are
your body’s instruction manual and also passes genetic traits to
offspring. Humans have more than 30 000 genes.

What is a chromosome?
A chromosome is a structure that contains tightly packaged DNA and
genes. Humans have 46 chromosomes made up of 23 pairs. A mother passes
23 chromosomes to her child through her egg and a father passes 23
chromosomes through his sperm. There is one pair of sex chromosomes
(two X chromosomes for females and one X and one Y chromosome for
males) and 22 pairs of autosomes (non-sex chromosomes). Any alteration
in the number of chromosomes can be attributed to changes that can
occur during the formation of reproductive cells (eggs and sperm), in
early foetal development or in any cell after birth. Aneuploidy is a
chromosome loss or gain and the term euploid refers to a complete set
of 46 chromosomes.

How does microarray CGH work?
Microarray CGH compares the egg or embryo’s DNA with a control (normal)
DNA sample and identifies differences between the 2 sets of DNA. In
this way, a loss or a gain of chromosomes in the egg or embryo DNA can
be identified. The embryo DNA and control DNA are combined with green
and red dye respectively and placed onto a microarray slide containing
thousands of spots of human genes corresponding to specific regions of
chromosomes for analysis. The slide is scanned and the red to green
ratio will determine if the DNA is normal or if there is a loss or gain
of chromosomes. Euploid (normal) embryos are then selected and
transferred improving the chances of a successful pregnancy.

Who should have microarray CGH testing?
Microarray CGH is suitable for all patients. Microarray CGH is helpful
in younger women to diagnose the cause of repeated miscarriage, failed
IVF or unexplained infertility. In most cases, it is the egg, rather
than the sperm that determines the chromosomal integrity of the
embryo. In older women approaching the age of 40, the number of
eggs produced with abnormal chromosomes increases. These eggs will
produce abnormal embryos. However if the normal embryos are identified,
there is a higher chance that can result in a successful pregnancy.
Also, the risk of miscarriage increases with advanced maternal age.
Microarray CGH is suitable for men who have been shown to have sperm at
risk of carrying abnormal chromosomes, couples who have had a previous
pregnancy with abnormal chromosomes or a child with birth defects as
well as those with an inherited genetic disorder.
What samples are needed for microarray CGH testing?
Microarray CGH uses single cells (polar bodies and blastomeres) as well as multiple cells (trophectoderm).
What are the advantages and limitations of microarray CGH?
Microarray CGH testing provides the most comprehensive analysis of
chromosomes to date. All 46 chromosomes can be analyzed in a single
test. Euploid (normal) embryos can be selected improving the chance of
a successful pregnancy for couples.
The limitations of microarray CGH is that this test does not detect
balanced chromosome translocations. This is because balanced chromosome
translocations do not result in any loss or gain of chromosomal
material. Microarray CGH cannot detect tiny changes such as a single
base pair deletion.
Microarray is available at the C.A.R.E Clinic – the first in South Africa and globally the first in Africa.
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