DETECTING DISORDERS DURING
PREGNANCY
Many development problems and
genetic disease can now be diagnosed while the fetus is in the
uterus.Ultrasound imaging,which generates image using sound frequencies above
the normal hearing range,is commonly used to analyze the fetus’ size and
condition.In amniocentesis and chorionic villus sampling,a needle is used to
obtain fetal cells from fluid or tissue surrounding the embryo;these cells then
provide the basis for genetic analysis.
In the newest reproductive
technology,a pregnant mother’s blood is used to analyze the genome of her
fetus.A pregnant’s mother blood contains DNA from the growing embryo.How does
it get there?The mother’s blood reaches the embryo through the placenta.When
cells produced by the embryo grow old,die and break open within the
placenta,the released DNA enters the mother’s circulation.Although the blood
also contains pieces of DNA from the mother,about 10-15% of the DNA circulating
in the blood is from the fetus.Both the polymerase chain reaction(PCR) and high
throughput sequencing can convert the bits of fetal DNA into useful
information.
Unfortunately,almost all
detectable disorders remain untreatable in the uterus and many cannot be
corrected even after birth.Genetic testing may leave parents faced with
difficult decisions about whether to terminate a pregnancy or to raise a child
who may have profound defects and a short life expectancy.These are complex
issue that demand careful,informed thought and competent genetic counseling.
Parents will be receiving even
more genetic information and confronting further questions in the near
future.Indeed,in 2012 we learned of the first infant whose entire genome was
known before birth.Nevertheless,completing a genome sequence does not ensure complete
information.Consider,for example,Klinefelter Syndrome,in which males have an
extra X chromosome.This disorder is quite common,affecting 1 in 1000 men,and
can cause reduce testosterone,a feminized appearance, and
infertility.However,while some men with an extra X chromosome have a
debilitating disorder,others have symptoms so mild that they are unaware of the
condition.For other disorders,such as diabetes,heart disease,or cancer,a genome
sequence may only indicate the degree of risk.How parents will use this and
other information in having and raising children is a question with no clear
answers.