Birth Defects and Congenital Anomalies | Testing and Diagnosis

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How are birth defects diagnosed?

Some birth defects can be diagnosed before birth through ultrasound, amniocentesis or chronic villus sampling (CVS). Most women have blood tests to screen for their risk of having a baby with a specific birth defect, such as Down syndrome and spina bifida. While it does not usually lead to a cure for the baby's birth defect, prenatal diagnosis can prepare the parents emotionally and help them prepare for a child with a birth defect.

In other cases a birth defect is diagnosed after birth through physical examination or a blood test that screens for several disorders in newborns.

What is a preconception examination?

A preconception examination, also known as a preconception visit, is one of the best ways to ensure a healthy pregnancy. The goals are to assess your overall health and identify any risk factors that can complicate a pregnancy. A preconception examination can include any of the following:

Family medical history

A doctor will assess the medical history of both of your biological parents to see if any family member has had medical problems such as high blood pressure, diabetes or mental retardation.

Genetic testing

A doctor will assess any possible genetic disorders that can be passed down to your child; some genetic disorders can be detected by blood tests before pregnancy.
Personal Medical History – to determine if you have any medical conditions that may require special care during pregnancy (anemiaepilepsy, diabetes, high blood pressure); to gather information about previous surgeries; and to obtain information about past pregnancies such as complications, losses and length of gestation.

Vaccination status

To assess immunity to diseases such as rubella (German measles) that can cause miscarriage or birth defects, a vaccine can be given at least three months prior to conception to provide immunity.

Infection screening

Infection screening determines if a woman has a sexually transmitted infection, a urinary tract infection or another type of infection that can be harmful to her or to the fetus.

We are grateful to have been ranked #1 on U.S. News & World Report's list of the best children's hospitals in the nation for the third year in a row, an honor we could not have achieved without the patients and families who inspire us to do our very best for them. Thanks to you, Boston Children's is a place where we can write the greatest children's stories ever told.”
- Sandra L. Fenwick, President and CEO

Boston Children's Hospital
300 Longwood Avenue, Boston, MA 02115
For Patients: 617-355-6000
For Referring Providers: 844-BCH-PEDS | 844-224-7337

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