If you’re thinking about becoming pregnant or are currently expecting, it’s
important to understand the risk for birth defects. Birth defects cannot
always be prevented, but there are many aspects of prenatal care that can
protect your unborn baby. If your baby does have a birth defect or fetal
condition, treatments are now available that have revolutionized an
affected baby’s ability to survive and thrive after birth.
Learn more about prevention, diagnosis and available treatments for birth
defects from
Ahmet Baschat, M.D., director of the Johns Hopkins Center for Fetal Therapy, part of the
Department of Gynecology and Obstetrics.
Can birth defects be prevented?
Though not all birth defects can be avoided, prenatal care and awareness of past or current conditions can help with prevention.
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Prenatal care.
Taking a daily prenatal vitamin that includes at least 400 micrograms
of folic acid can help prevent a variety of birth defects. You should
be taking prenatal vitamins if you’re of reproductive age, when you’re
actively trying to conceive and/or as soon as you find out you are
pregnant. In addition to taking your prenatal vitamin, avoiding
alcohol, tobacco and illegal drugs can significantly help prevent birth
defects and pregnancy complications. -
Awareness of past or current conditions.
If you previously had a pregnancy with a birth defect, it’s important
to find out the most likely causes because it can help your physician
plan preventive measures for your next pregnancy. For example,spina bifida
is caused by a deficiency in folate, so if your previous pregnancy had
spina bifida, you can take a high dose of folate to help prevent future
spina bifida diagnoses.
Are all birth defects discovered before a baby is born?
It’s not always possible to detect all birth defects in utero. However,
high-resolution ultrasounds done by certified prenatal ultrasound groups
make it possible to diagnose defects that will cause a significant impact
before birth.
Baschat says: “At the Center for Fetal Therapy, we recommend that pregnant
women have the first-trimester nuchal translucency scan between 11 and 14
weeks and the anatomy scan between 18 and 20 weeks. These two ultrasounds
provide us with the best opportunity for detecting birth defects.”
In recent years, some pregnant women have turned down the first-trimester
ultrasound because a maternal screening blood test now exists for Down
syndrome. The ultrasound is still strongly recommended, though, because
there are many other serious birth defects that can be detected this early
in pregnancy.
Is it possible to treat birth defects while a baby is in utero?
Absolutely. While there are many different types of birth defects, it’s
extremely important to try to correct those that damage vital organs before
the baby is born. The Center for Fetal Therapy specializes in treating
several of these defects in utero, including:
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Congenital diaphragmatic hernia. This condition, in which a hole in the diaphragm allows abdominal
content to enter the chest and restrict lung development, can be
significantly helped in utero throughfetoscopic endotracheal occlusion, a surgery that improves lung function and significantly increases
survival rates. -
Lower urinary tract obstruction. This occurs when the flow of urine is blocked from exiting the fetus’
body, leading to permanent kidney damage. Relieving this obstruction
before birth protects the kidneys.
Fetal treatments also exist for conditions that make the baby unhealthy,
even if they are not considered to be birth defects. For example, if a
fetus has an irregular heartbeat, you can give the mother medication that
will cross the placenta and treat the fetus.
How successful are in utero treatments for fetal conditions?
By treating fetal conditions in utero rather than waiting until after
birth, fetuses are given significantly better chances of survival and a
reduced need for major surgery after birth. For example, with a condition
like
twin-to-twin transfusion syndrome, in which identical twins develop a blood volume imbalance, both babies
could die without any intervention. By performing laser surgery in utero,
there is approximately a 95 percent chance that at least one baby will
survive.
Explains Baschat, “Success rates vary depending on the condition, available
treatments and the individual patient, but overall, where fetal
interventions are available, we see a much higher rate of survival for
affected fetuses.”
If a baby has fetal surgery, will he/she need different care after birth?
This will depend on the individual condition and type of surgery performed.
For all fetal surgeries, your baby needs to be delivered at a hospital
where pediatric subspecialties are in-house so the baby’s care can be
managed after birth. Baschat says: “Many of the treatments we perform
require patients to deliver at the highest-level multispecialty hospital,
like The Johns Hopkins Hospital. This way, all prenatal and postnatal care
is available to you in one location.”
If you have one child affected by a birth defect, will all of your future children have that same condition?
All future children will not definitively be affected by the same birth
defect, but it will depend on what the cause was. If the birth defect was
caused by a genetic mutation, there may be a higher likelihood of
recurrence, but if you seek care from a specialized center, maternal-fetal
medicine specialists and genetic counselors can work with you to assess
future risk.
The risk of some conditions can be determined before you become pregnant
through genetic testing. If that doesn’t exist for the condition in
question, maternal-fetal medicine specialists and genetic counselors can
genetically test your fetus during pregnancy to see if she or he exhibits
the mutation that affected your previous child.
Are there communities in which you can speak with other families who have had children affected by birth defects?
There are many forums online, whether on the web or social media platforms,
in which parents come together. “At our center, we reach out to previous
patients to see if they are interested in communicating with new patients
affected by the same condition,” Baschat explains. “They can empathize
about the specific birth defect, but they can also provide guidance and
advice about the experience of working with our center throughout the
pregnancy and after the baby is born.”
In the future, what advances will take place in treating disease before birth?
Through prenatal diagnosis and understanding fetal disease better,
physicians are learning more about what harms the fetus and what may be of
benefit before birth. Additionally, new uses for minimally invasive
surgical equipment are regularly being discovered.
There are also stem cell therapies, genomic medicine and a whole host of
related treatments that are currently used for children and adults. One
day, these may also apply to the fetus. “While it’s hard to predict the
future, we’re currently doing things we couldn’t have foreseen 10 years
ago, so we’re very hopeful for continued advancements in fetal care,” says
Baschat.
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