I’m 37; do I need genetic counseling?
The answer to this question depends on many factors. Discuss all your options with your healthcare provider.
5. Consanguinity
Consanguinity (being related by
birth to your partner, such as a cousin) can create problems. A related
couple may have a high risk of having a child with a
genetic birth defect, especially if there is a family history of
genetic defects. (First cousins have 1/16 of their genes in common.) If
you’re related to your partner, tell your genetic-counseling team.
6. Prenatal Testing
Prenatal testing does not guarantee the
birth of a normal baby; it only provides information about
malformations or disorders that can be specifically tested for. Some
birth defects can’t be found or are difficult to find before a baby is
born, such as phenylketonuria, cleft lip and cleft palate. Other
problems, such as chromosome abnormalities, may be identified by
various tests, including amniocentesis, ultrasound, chorionic villus
sampling and fetoscopy.
Testing for a fetal abnormality allows
for termination of a pregnancy, if that is desired. Sometimes a
prenatal diagnosis may call for prenatal surgery in utero (in the
uterus) to correct various conditions, such as kidney blockage or
omphalocele (congenital hernia of the navel).
Results learned from prenatal testing can
be used to make special arrangements for care of the baby after birth,
if necessary. Results may also influence which method of delivery is
chosen.
Counseling and support of a couple or
family can help prepare them for what lies ahead after baby’s birth.
Support can include social services, mental-health counseling
(psychiatrist, psychologist, social worker) and spiritual guidance.
For some couples, counseling is the
beginning of the grieving process over the loss of the “perfect baby.”
Counseling can help a couple begin to deal with the possible death of
the fetus or baby, or the challenges associated with a child with
special needs.
7. Counseling after Baby’s Birth
When a couple gives birth to a child
with a birth defect or a genetic disorder, genetic testing of the
couple may be recommended after the birth, especially if they desire
more children. Testing may alert the couple to problems that could
arise in subsequent pregnancies.
Most infants with problems are identified
at birth or shortly afterward. Babies born with problems are usually
grouped in one of three categories:
•babies with obvious malformations at the time of birth
•babies who are “sick” or have a difficult time immediately after birth
•babies who appear normal at birth but develop abnormalities later
An accurate diagnosis is important.
Helpful sources of information include family history, laboratory
results, physical exam, pregnancy history (including medications,
complications and environmental exposures), growth and development
history during the pregnancy and after the birth, and photographs of
the baby.
This information can provide guidance
about what lies ahead and various treatments that might be available.
Genetic counseling after a baby is born with a birth defect is most
helpful in answering the question, “What are the chances of it
happening again?”
If the risk of recurrence of a problem is
low, some families choose to have more children. If the risk is high or
if prenatal diagnosis is not available, a couple may decide not to have
children.
In some cases, a couple may opt for donor
insemination, if that might prevent a problem. Donor insemination uses
donor sperm to achieve pregnancy. The partner’s sperm is not used if he
has a chromosomal disorder or is a carrier of a chromosomal disorder.
Or a couple may choose donation of eggs if the woman has a genetic
problem.
