Congenital Disorders Sourcebook, 5th Ed.

By Omnigraphics

Consumer health information about nonhereditary birth defects and disorders, including facts about prevention and treatment options. Includes index, glossary of related terms, and other resources.

• Language: English
• Publisher: Omnigraphics
• Release date: Jul 1, 2021
• ISBN: 9780780819108

Book preview

Preface

About This Book

According to the Centers for Disease Control and Prevention (CDC), about 1 in 33 babies (about 3 percent of all babies) in the United States are born each year with a congenital disability. In fact, birth defects are the leading cause of death in the first year of life, accounting for 20 percent of all infant deaths. Yet, the future is brightening. Recent medical advances have enabled doctors to diagnose and treat some congenital disabilities before birth, affording affected children a much greater chance at survival. Additionally, advances in the understanding of the causes of birth defects allow prospective parents to take steps to minimize the chances that an infant will be born with these types of disorders.

Congenital Disorders Sourcebook, Fifth Edition describes the most common types of birth defects and disorders related to prematurity, prenatal and perinatal infections, maternal-health conditions during pregnancy, and birth complications, including cerebral palsy (CP), fetal alcohol spectrum disorders (FASDs), spina bifida, and disorders of the heart, brain, gastrointestinal tract, musculoskeletal system, urinary tract, reproductive organs, and chromosomal defects such as Down syndrome, Klinefelter syndrome, etc. Chromosomal abnormalities and how to live and cope up with congenital disorders are also described. The book concludes with a glossary of related terms and a directory of resources for further help and information.

How to Use This Book

This book is divided into parts and chapters. Parts focus on broad areas of interest. Chapters are devoted to single topics within a part.

Part 1: Prenatal Concerns and Preventing Birth Defects starts with an overview of birth defects, and what can be done to prevent them. It details the most common risk factors for congenital disorders including substance use, and the adverse fetal effects of medications such as antiretroviral drugs and thalidomide, along with steps to stay healthy during pregnancy.

Part 2: Pregnancy Health Conditions and Complications provides basic information about the various health conditions such as cancer, diabetes, epilepsy, and asthma that affect pregnancy. This part also explains the effects of infectious diseases on fetus that can be passed on from mother, umbilical cord abnormalities, and pregnancy complications such as amniotic band syndrome, preeclampsia, and Rh incompatibility.

Part 3: Prematurity and Other Birth Complications discusses preterm labor and birth, its other complications that include jaundice, retinopathy, apnea, and transient tachypnea of the newborn. It also explains the pregnancy concerns with twins, labor and delivery complications, and the screening procedures and tests for newborns.

Part 4: Structural Abnormalities and Functional Impairments provides data and statistics on birth defects, and the different types of defects that include craniofacial, heart, digestive tract, kidney, reproductive organs, musculoskeletal defects, urinary tract, and the brain. It also explains fetal tumors, fetal alcohol spectrum disorder (FASD), and the health issues of spina bifida.

Part 5: Chromosomal Abnormalities gives an overview of abnormalities related to chromosomes such as Down syndrome, Edwards syndrome, Klinefelter syndrome, and Turner syndrome that affect fetuses.

Part 6: Living with Congenital Disorders focuses on the role of healthcare providers, the healthy choices that can be made to prevent birth defects, genetic counseling, and preconception health.

Part 7: Additional Help and Information includes a glossary of terms related to congenital disorders and a directory of resources offering additional help and support.

Bibliographic Note

This volume contains documents and excerpts from publications issued by the following U.S. government agencies: Agency for Healthcare Research and Quality (AHRQ); Centers for Disease Control and Prevention (CDC); Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD); Genetic and Rare Diseases Information Center (GARD); MedlinePlus; National Cancer Institute (NCI); National Eye Institute (NEI); National Heart, Lung, and Blood Institute (NHLBI); National Human Genome Research Institute (NHGRI); National Institute of Neurological Disorders and Stroke (NINDS); National Institute on Drug Abuse (NIDA); National Institutes of Health (NIH); NIH Osteoporosis and Related Bone Diseases—National Resource Center (NIH ORBD—NRC); Office of Disease Prevention and Health Promotion (ODPHP); Office on Women’s Health (OWH); U.S. Agency for International Development (USAID); U.S. Food and Drug Administration (FDA); and Vaccines.gov.

It also contains original material produced by Omnigraphics and reviewed by medical consultants.

About the Health Reference Series

The Health Reference Series is designed to provide basic medical information for patients, families, caregivers, and the general public. Each volume provides comprehensive coverage on a particular topic. This is especially important for people who may be dealing with a newly diagnosed disease or a chronic disorder in themselves or in a family member. People looking for preventive guidance, information about disease warning signs, medical statistics, and risk factors for health problems will also find answers to their questions in the Health Reference Series. The Series, however, is not intended to serve as a tool for diagnosing illness, in prescribing treatments, or as a substitute for the physician–patient relationship. All people concerned about medical symptoms or the possibility of disease are encouraged to seek professional care from an appropriate healthcare provider.

A Note about Spelling and Style

Health Reference Series editors use Stedman’s Medical Dictionary as an authority for questions related to the spelling of medical terms and The Chicago Manual of Style for questions related to grammatical structures, punctuation, and other editorial concerns. Consistent adherence is not always possible, however, because the individual volumes within the Series include many documents from a wide variety of different producers, and the editor’s primary goal is to present material from each source as accurately as is possible. This sometimes means that information in different chapters or sections may follow other guidelines and alternate spelling authorities. For example, occasionally a copyright holder may require that eponymous terms be shown in possessive forms (Crohn’s disease vs. Crohn disease) or that British spelling norms be retained (leukaemia vs. leukemia).

Medical Review

Omnigraphics contracts with a team of qualified, senior medical professionals who serve as medical consultants for the Health Reference Series. As necessary, medical consultants review reprinted and originally written material for currency and accuracy. Citations including the phrase Reviewed (month, year) indicate material reviewed by this team. Medical consultation services are provided to the Health Reference Series editors by:

Dr. Vijayalakshmi, MBBS, DGO, MD

Dr. Senthil Selvan, MBBS, DCH, MD

Dr. K. Sivanandham, MBBS, DCH, MS (Research), PhD

Health Reference Series Update Policy

The inaugural book in the Health Reference Series was the first edition of Cancer Sourcebook published in 1989. Since then, the Series has been enthusiastically received by librarians and in the medical community. In order to maintain the standard of providing high-quality health information for the layperson the editorial staff at Omnigraphics felt it was necessary to implement a policy of updating volumes when warranted.

Medical researchers have been making tremendous strides, and it is the purpose of the Health Reference Series to stay current with the most recent advances. Each decision to update a volume is made on an individual basis. Some of the considerations include how much new information is available and the feedback we receive from people who use the books. If there is a topic you would like to see added to the update list, or an area of medical concern you feel has not been adequately addressed, please write to:

Managing Editor

Health Reference Series

Omnigraphics

615 Griswold St., Ste. 520

Detroit, MI 48226

Part 1 | Prenatal Concerns and Preventing Birth Defects

Chapter 1 | What Are Birth Defects: An Overview

Birth defects are structural or functional abnormalities present at birth that can cause physical disability, intellectual and developmental disability (IDD), and other health problems. Some may be fatal, especially if not detected and treated early.

There are two main categories of birth defects: structural birth defects and functional/developmental birth defects.

Some birth defects affect many parts or processes in the body, leading to both structural and functional problems.

Researchers have identified thousands of different birth defects. According to the Centers for Disease Control and Prevention (CDC), birth defects are the leading cause of death for infants in the United States during the first year of life.

What Are the Types of Birth Defects?

There are two main categories of birth defects.

Structural Birth Defects

Structural birth defects are related to a problem with the structure of body parts. These can include:

Cleft lip or cleft palate

Heart defects, such as missing or misshaped valves

Abnormal limbs, such as a clubfoot

Neural tube defects (NTDs), such as spina bifida, and problems related to the growth and development of the brain and spinal cord

Functional or Developmental Birth Defects

Functional or developmental birth defects are related to a problem with how a body part or body system works or functions. These problems can include:

Nervous system or brain problems. These include intellectual and developmental disabilities, behavioral disorders, speech or language difficulties, seizures, and movement trouble. Some examples of birth defects that affect the nervous system include Down syndrome, Prader-Willi syndrome, and fragile X syndrome.

Sensory problems. Examples include hearing loss and visual problems, such as blindness or deafness.

Metabolic disorders. These involve problems with certain chemical reactions in the body, such as conditions that limit the body’s ability to rid itself of waste materials or harmful chemicals. Two common metabolic disorders are phenylketonuria and hypothyroidism.

Degenerative disorders. These are conditions that might not be obvious at birth, but cause one or more aspects of health to steadily get worse. Examples of degenerative disorders are muscular dystrophy and X-linked adrenoleukodystrophy, which leads to problems of the nervous system and the adrenal glands.

Some birth defects affect many parts or processes in the body, leading to both structural and functional problems.

How Many People Are Affected by/at Risk for Birth Defects?

The Centers for Disease Control and Prevention (CDC) estimates that birth defects occur in about 1 in every 33 infants born in the United States each year.

Birth defects can occur during any pregnancy, but some factors increase the risk for birth defects. The following situations place pregnant women at higher risk of having a child with a birth defect:

Lack of folic acid. Women who are pregnant or who could become pregnant should take 400 micrograms of folic acid every day to prevent NTDs. However, according to the CDC, only 2 out of every 5 women of childbearing age take folic acid every day.

Drinking alcohol. Drinking alcohol during pregnancy can lead to a variety of problems, including birth defects. For example, using alcohol can lead to fetal alcohol syndrome (FAS), which is characterized by IDD, physical challenges, and behavioral problems. There is no safe level of alcohol consumption during pregnancy.

Smoking cigarettes. Smoking during pregnancy can lead to a variety of problems, including lung problems such as asthma. Evidence also strongly suggests that certain birth defects, such as problems with the heart and intestines, are caused by smoking during pregnancy.

Using drugs. Drug usage during pregnancy can increase the risk of various birth defects, including IDDs and behavioral problems, as well as pregnancy loss and stillbirth.

Medication use. Certain medications are known to cause birth defects if taken during pregnancy. Thalidomide, which is currently used to treat certain cancers and other serious conditions, was once sold as a treatment for morning sickness until it was discovered that it caused severe birth defects. Infants whose mothers took thalidomide had a range of structural and functional problems, including misshapen ears and shortened limbs. Although the thalidomide situation led to much stricter controls on drugs used during pregnancy, the majority of medications currently used by pregnant women have not been tested for safety or efficacy in pregnant women. Women who are pregnant or who might become pregnant should discuss all medications, both prescription and over-the-counter (OTC), and supplements they take with their health-care providers.

Infections. Women who get certain infections during pregnancy are at higher risk for having a child with birth defects. Some of the more common infections that are linked to birth defects are cytomegalovirus, a common virus that spreads through body fluids and usually causes no symptoms in healthy people, and toxoplasmosis, a parasitic infection that spreads through contact with cat feces, raw meat, and contaminated food and water. Zika virus infection is linked to microcephaly in newborn babies – a condition in which the brain and skull are smaller than normal.

Obesity or uncontrolled diabetes. Researchers found that the risk of newborn heart defects and neural tube defects increased with maternal obesity. Additional research suggests that children of parents who are obese may be at risk for developmental delays. Obesity is also associated with other health problems and long-term health issues. Poorly controlled blood sugar places women at higher risk of having a baby who is too large, has breathing problems, or has other poor health outcomes. These outcomes are likely regardless of whether the woman had diabetes before she got pregnant (type 1 or 2 diabetes) or whether she developed diabetes during pregnancy (gestational diabetes).

Exposure to things in the environment. Pregnant women who breathe in, eat, drink, or get things into their bodies in other ways may also be at increased risk of birth defects. For example, pregnant women who are exposed to high levels of radiation, such as cancer treatments, are at higher risk for birth defects in their infants. Handling or breathing in certain chemicals can also increase the risk of birth defects.

What Causes Birth Defects

Different birth defects have different causes, and the causes of many birth defects remain unknown.

A specific condition might be caused by one or more of the following primary problems:

Genetic problems. One or more genes might have a change or mutation that results in them not working properly, such as in fragile X syndrome. Similarly, a gene or part of the gene might be missing.

Chromosomal problems. In some cases, a chromosome or part of a chromosome might be missing, such as in Turner syndrome, when a female is missing an X chromosome. Other birth defects result from having an extra chromosome, such as in Klinefelter syndrome and Down syndrome.

Infections. Women who get certain infections during pregnancy are at higher risk for having a child with birth defects. For example, infection with Zika virus during pregnancy is linked with the birth defect called microcephaly, in which the brain and skull are smaller than normal. Zika infection in pregnancy is linked to other structural problems with the brain as well.

Exposure to medications, chemicals, or other agents during pregnancy. The infants whose mothers took thalidomide are examples of an exposure leading to birth defects. Other examples include exposure to rubella (also called German measles) and toxic chemicals, such as hydrocarbons.

How Do Healthcare Providers Diagnose Birth Defects?

Diagnosis of birth defects depends on the specific problem and parts or systems of the body that are affected.

Many structural problems, such as clubfoot or cleft palate, are detected and diagnosed after a physical examination of the baby immediately after birth. For other conditions, newborn screening or prenatal testing is the only way to detect and diagnose problems.

Newborn Screening

Newborn screening, a process that tests infants’ blood for different health conditions, including many birth defects, provides one method of detecting problems. Newborn screening does not diagnose any specific conditions but detects that a problem may exist. By detecting problems immediately after birth, conditions can be diagnosed and treated before they have lifelong effects.

In addition, newborn screening routinely includes test for hearing problems, as well as pulse oximetry (test of baby’s pulse rate and blood oxygen levels) to detect critical congenital heart defects.

Infants who are at high risk for certain conditions – for example, because of their family history – can undergo additional testing at birth to detect these conditions and treat them if needed. This type of screening has been effective in detecting some cases of Menkes disease, allowing for treatment to begin before health problems occur.

Prenatal Screening

During pregnancy, women have routine tests, such as blood and urine tests, to check for diabetes, signs of infection, or disorders of pregnancy such as preeclampsia. Blood tests also measure the levels of certain substances in a woman’s blood that determine the risk of the fetus for certain chromosomal disorders and NTDs. Ultrasound screenings, creating a picture using sound, allow providers to view the developing fetus in the womb. Some birth defects, such as spina bifida, are detectable on ultrasounds.

Health-care providers recommend that certain pregnant women, including those who are older than 35 years of age and those with a family history of certain conditions, get additional prenatal tests to screen for birth defects. Prenatal detection allows doctors to start treatment as early as possible for some birth defects.

Noninvasive Prenatal Testing

Noninvasive prenatal testing (NIPT) is not a routine prenatal test but is used when a routine test suggests that the fetus may have a chromosomal disorder, such as having an extra or missing chromosome in each cell, which occurs in disorders such as Down syndrome, Patau syndrome, and Edwards syndrome.

It analyzes the placental DNA present in the mother’s blood; it does not require cell samples from inside the womb.

Experts recommend NIPT only for high risk pregnancies. This method does not detect open neural tube defects, nor does it predict late pregnancy complications.

Amniocentesis

Amniocentesis is a test that is usually performed to determine whether a fetus has a genetic disorder. In this test, a doctor takes a small amount of fluid from the womb using a long needle. The fluid, called amniotic fluid, contains cells that have genetic material that is the same as the fetus’s genetic material. A laboratory grows the cells and then examines their genetic material for any problems. Some birth defects that can be detected with amniocentesis are Down syndrome and certain types of muscular dystrophy.

There is a slight risk of pregnancy loss with amniocentesis, so women should discuss the procedure with their healthcare provider before making a decision about the test.

Chorionic Villus Sampling

This test extracts cells from inside the womb to determine whether the fetus has a genetic disorder. Using a long needle, the doctor takes cells from the chorionic villi, which are tissues in the placenta, the organ in the womb that nourishes the fetus. The genetic material in the chorionic villus cells is identical to that of the fetal cells.

Like amniocentesis, chorionic villus sampling (CVS) can be used to test for chromosomal disorders and other genetic problems. CVS can be done earlier in pregnancy than amniocentesis, but it is also associated with a slightly higher risk of miscarriage than amniocentesis. Women who are considering CVS should discuss the test and the risks with their health-care provider.

What Are the Treatments for Birth Defects?

Because the symptoms and problems caused by birth defects vary, treatments for birth defects also vary. Treatments range from medications and therapies to surgeries and assistive devices.

For example:

Steroid medications, such as prednisone, can help people with muscular dystrophy increase muscle strength, ability, and respiratory function and slow the progression of weakness. Physical therapy is also useful for building strength and reducing weakness.

Infants with cerebral palsy (CP) may receive sensory-motor therapy using Velcro-covered sticky mittens to help them snag and explore objects they are unable to grasp in the hand.

Assistive devices include orthopedic braces to help patients with limb defects to walk and cochlear implants for hearing impairment.

In the Management of Myelomeningocele Study (MOMS), conducted through NICHD’s Maternal-Fetal Surgery Network, researchers tested a surgical procedure to correct a severe form of spina bifida while the fetus was still in the womb. Although the surgery itself carried risks, it greatly reduced health complications for the infants who received it, including a greater likelihood of being able to walk without assistance.

Gene therapy approaches, in which a gene that is mutated or missing is replaced by a normal version of the gene, are being tested for a variety of genetic disorders. Some examples of disorders that are being treated successfully with gene therapy include genetic disorders of the immune system, the muscles, and the eyes. Research on Duchenne muscular dystrophy used genome editing techniques to improve leg grip strength in a mouse model by turning on a gene for a specific protein used in muscles.

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This chapter includes text excerpted from Birth Defects, Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), January 22, 2020.

Chapter 2 | Steps to a Healthy Pregnancy

Chapter Contents

Section 2.1—Prenatal Care

Section 2.2—Healthy Eating during Pregnancy

Section 2.3—Folic Acid: An Important Part of a Healthy Pregnancy

Section 2.4—Vaccinations for a Healthy Pregnancy

Section 2.1 | Prenatal Care

This section includes text excerpted from Prenatal Care, Office on Women’s Health (OWH), U.S. Department of Health and Human Services (HHS), April 1, 2019.

What Is Prenatal Care?

Prenatal care is the healthcare you get while you are pregnant. Take care of yourself and your baby by:

Getting early prenatal care. If you know you are pregnant or think you might be, call your doctor to schedule a visit.

Getting regular prenatal care. Your doctor will schedule you for many checkups over the course of your pregnancy. Do not miss any – they are all important.

Following your doctor’s advice.

Why Do You Need Prenatal Care?

Prenatal care can help keep you and your baby healthy. Babies of mothers who do not get prenatal care are three times more likely to have a low birth weight and five times more likely to die than those born to mothers who do get care.

Doctors can spot health problems early when they see mothers regularly. This allows doctors to treat them early. Early treatment can cure many problems and prevent others. Doctors also can talk to pregnant women about things they can do to give their unborn babies a healthy start to life.

If You Are Thinking about Getting Pregnant. How Can You Take Care of Yourself?

You should start taking care of yourself before you start trying to get pregnant. This is called preconception health. It means knowing how health conditions and risk factors could affect you or your unborn baby if you become pregnant. For example, some foods, habits, and medicines can harm your baby – even before she or he is conceived. Some health problems also can affect pregnancy.

Talk to your doctor before pregnancy to learn what you can do to prepare your body. Women should prepare for pregnancy before becoming sexually active. Ideally, women should give themselves at least three months to prepare before getting pregnant.

The five most important things you can do before becoming pregnant are:

Take 400 to 800 micrograms (400 to 800 mcg or 0.4 to 0.8 mg) of folic acid every day for at least three months before getting pregnant to lower your risk of some birth defects of the brain and spine. You can get folic acid from some foods. But, it is hard to get all the folic acid you need from foods alone. Taking a vitamin with folic acid is the best and easiest way to be sure you are getting enough.

Stop smoking and drinking alcohol. Ask your doctor for help.

If you have a medical condition, be sure it is under control. Some conditions include asthma, diabetes, depression, high blood pressure (HBP), obesity, thyroid disease, or epilepsy. Be sure your vaccinations are up-to-date.

Talk to your doctor about any over-the-counter (OTC) and prescription medicines you are using. These include dietary or herbal supplements. Some medicines are not safe during pregnancy. At the same time, stopping medicines you need also can be harmful.

Avoid contact with toxic substances or materials at work and at home that could be harmful. Stay away from chemicals and cat or rodent feces.

Are You Pregnant? What Should You Do – or Not Do – to Take Care of Yourself and Your Unborn Baby?

Follow these do’s and don’ts to take care of yourself and the precious life growing inside you:

Healthcare Do’s and Don’ts

Get early and regular prenatal care. Whether this is your first pregnancy or third, healthcare is extremely important. Your doctor will check to make sure you and the baby are healthy at each visit. If there are any problems, early action will help you and the baby.

Take a multivitamin or prenatal vitamin with 400 to 800 micrograms (400 to 800 mcg or 0.4 to 0.8 mg) of folic acid every day. Folic acid is most important in the early stages of pregnancy, but you should continue taking folic acid throughout pregnancy.

Ask your doctor before stopping any medicines or starting any new medicines. Some medicines are not safe during pregnancy. Keep in mind that even OTC medicines and herbal products may cause side effects or other problems. But, not using the medicines you need could also be harmful.

Avoid x-rays. If you must have dental work or diagnostic tests, tell your dentist or doctor that you are pregnant so that extra care can be taken.

Get a flu shot. Pregnant women can get very sick from the flu and may need hospital care.

Food Do’s and Don’ts

Eat a variety of healthy foods. Choose fruits, vegetables, whole grains, calcium-rich foods, and foods low in saturated fat. Also, make sure to drink plenty of fluids, especially water.

Get all the nutrients you need each day, including iron. Getting enough iron prevents you from getting anemia, which is linked to preterm birth and low birth weight. Eating a variety of healthy foods will help you get the nutrients your baby needs. But, ask your doctor if you need to take a daily prenatal vitamin or iron supplement to be sure you are getting enough.

Protect yourself and your baby from food-borne illnesses, including toxoplasmosis and listeria. Wash fruits and vegetables before eating. Do not eat uncooked or undercooked meats or fish. Always handle, clean, cook, eat, and store foods properly.

Do not eat fish with lots of mercury, including swordfish, king mackerel, shark, and tilefish.

Lifestyle Do’s and Don’ts

Gain a healthy amount of weight. Your doctor can tell you how much weight gain you should aim for during pregnancy.

Do not smoke, drink alcohol, or use drugs. These can cause long-term harm or death to your baby. Ask your doctor for help quitting.

Unless your doctor tells you not to, try to get at least two hours and 30 minutes of moderate-intensity aerobic activity a week. It is best to spread out your workouts throughout the week. If you worked out regularly before pregnancy, you can keep up your activity level as long as your health does not change and you talk to your doctor about your activity level throughout your pregnancy.

Do not take very hot baths or use hot tubs or saunas.

Get plenty of sleep and find ways to control stress.

Get informed. Read books, watch videos, go to a childbirth class, and talk with moms you know.

Ask your doctor about childbirth education classes for you and your partner. Classes can help you prepare for the birth of your baby.

Environmental Do’s and Don’ts

Stay away from chemicals such as insecticides, solvents (such as some cleaners or paint thinners), lead, mercury, and paint (including paint fumes). Not all products have pregnancy warnings on their labels. If you are unsure if a product is safe, ask your doctor before using it. Talk to your doctor if you are worried that chemicals used in your workplace might be harmful.

If you have a cat, ask your doctor about toxoplasmosis. This infection is caused by a parasite sometimes found in cat feces. If not treated, toxoplasmosis can cause birth defects. You can lower your risk of it by avoiding cat litter and wearing gloves when gardening.

Avoid contact with rodents, including pet rodents, and with their urine, droppings, or nesting material. Rodents can carry a virus that can be harmful or even deadly to your unborn baby.

Take steps to avoid illness, such as washing hands frequently.

Stay away from secondhand smoke.

If You Do Not Want to Get Pregnant Right Now, Should You Still Take Folic Acid Every Day?

Yes! Birth defects of the brain and spine happen in the very early stages of pregnancy, often before a woman knows she is pregnant. By the time she finds out she is pregnant, it might be too late to prevent those birth defects. Also, half of all pregnancies in the United States are not planned. For these reasons, all women who are able to get pregnant need 400 to 800 mcg of folic acid every day.

How Often Should You See Your Doctor during Pregnancy?

Your doctor will give you a schedule of all the doctor’s visits you should have while pregnant. Most experts suggest you see your doctor:

About once each month for weeks 4 through 28

Twice a month for weeks 28 through 36

Weekly for weeks 36 to birth

If you are older than 35 years of age or your pregnancy is high risk, you will probably see your doctor more often.

What Happens during Prenatal Visits

During the first prenatal visit, you can expect your doctor to:

Ask about your health history including diseases, operations, or prior pregnancies

Ask about your family’s health history

Do a complete physical exam, including a pelvic exam and Pap test

Take your blood and urine for lab work

Check your blood pressure, height, and weight

Calculate your due date

Answer your questions

At the first visit, you should ask questions and discuss any issues related to your pregnancy. Find out all you can about how to stay healthy.

Later prenatal visits will probably be shorter. Your doctor will check on your health and make sure the baby is growing as expected. Most prenatal visits will include:

Checking your blood pressure

Measuring your weight gain

Measuring your abdomen to check your baby’s growth (once you begin to show)

Checking the baby’s heart rate

While you are pregnant, you also will have some routine tests. Some tests are suggested for all women, such as blood work to check for anemia, your blood type, human immunodeficiency virus (HIV), and other factors. Other tests might be offered based on your age, personal or family health history, your ethnic background, or the results of routine tests you have had.

Getting Pregnant in the Late 30s – Should You Do Anything Special?

As you age, you have an increased chance of having a baby born with a birth defect. Yet most women in their late 30s and early 40s have healthy babies. See your doctor regularly before you even start trying to get pregnant. They will be able to help you prepare your body for pregnancy. They will also be able to tell you about how age can affect pregnancy.

During your pregnancy, seeing your doctor regularly is very important. Because of your age, your doctor will probably suggest some extra tests to check on your baby’s health.

More and more women are waiting until they are in their 30s and 40s to have children. While many women of this age have no problems getting pregnant, fertility does decline with age. Women over 40 who do not get pregnant after six months of trying should see their doctors for a fertility evaluation.

Section 2.2 | Healthy Eating during Pregnancy

This section includes text excerpted from Pregnancy and Nutrition, MedlinePlus, National Institutes of Health (NIH), April 6, 2021.

What Is Nutrition, and Why Is It Important during Pregnancy?

Nutrition is about eating a healthy and balanced diet so your body gets the nutrients that it needs. Nutrients are substances in foods that our bodies need so they can function and grow. They include carbohydrates, fats, proteins, vitamins, minerals, and water.

When you are pregnant, nutrition is more important than ever. You need more of many important nutrients than you did before pregnancy. Making healthy food choices every day will help you give your baby what she or he needs to develop. It will also help make sure that you and your baby gain the proper amount of weight.

Do You Have Any Special Nutrition Needs Now That You Are Pregnant?

You need more folic acid, iron, calcium, and vitamin D than you did before pregnancy:

Folic acid is a B vitamin that may help prevent certain birth defects. Before pregnancy, you need 400 mcg (micrograms) per day. During pregnancy and when breastfeeding, you need 600 mcg per day from foods or vitamins. It is hard to get this amount from foods alone, so you need to take a supplement that contains folic acid.

Iron is important for your baby’s growth and brain development. During pregnancy, the amount of blood in your body increases, so you need more iron for yourself and your growing baby. You should get 27 mg (milligrams) of iron a day.

Calcium during pregnancy can reduce your risk of preeclampsia, a serious medical condition that causes a sudden increase in blood pressure. Calcium also builds up your baby’s bones and teeth.

Pregnant adults should get 1,000 mg (milligrams) of calcium a day.

Pregnant teenagers (ages 14–18) need 1,300 mg of calcium a day.

Vitamin D helps the calcium to build up the baby’s bones and teeth. All women, pregnant or not, should be getting 600 IU (international units) of vitamin D per day.

Keep in mind that taking too much of a supplement can be harmful. For example, very high levels of vitamin A can cause birth defects. Only take vitamins and mineral supplements that your health-care provider recommends.

You also need more protein when you are pregnant. Healthy sources of protein include beans, peas, eggs, lean meats, seafood, and unsalted nuts and seeds.

Hydration is another special nutritional concern during pregnancy. When you are pregnant, your body needs even more water to stay hydrated and support the life inside you. So it is important to drink enough fluids every day.

How Much Weight Should You Gain during Your Pregnancy?

How much weight you should gain depends on your health and how much you weighed before pregnancy:

If you were at a normal weight before pregnancy, you should gain about 25 to 35 pounds

If you were underweight before pregnancy, you should gain more

If you were overweight or had obesity before you become pregnant, you should gain less

Check with your health-care provider to find out how much weight gain during pregnancy is healthy for you. You should gain weight gradually during your pregnancy, with most of the weight gained in the last trimester.

Do You Need to Eat More Calories When Your Pregnant?

How many calories you need depends on your weight gain goals. Your health-care provider can tell you what your goal should be, based on things such as your weight before pregnancy, your age, and how fast you gain weight. The general recommendations are:

In the first trimester of pregnancy, you probably do not need extra calories.

In the second trimester, you usually need about 340 extra calories.

In the last trimester, you may need around 450 extra calories per day.

During the final weeks of pregnancy, you may not need extra calories.

Keep in mind that not all calories are equal. You should eat healthy foods that are packed with nutrients – not empty calories such as those found in soft drinks, candies, and desserts.

What Foods Should You Avoid during Pregnancy?

During pregnancy, you should avoid:

Alcohol. There is no known amount of alcohol that is safe for a woman to drink during pregnancy.

Fish that may have high levels of mercury. Limit white (albacore) tuna to 6 ounces per week. Do not eat tilefish, shark, swordfish, or king mackerel.

Foods that are more likely to contain germs that could cause foodborne illness, including:

Refrigerated smoked seafood such as whitefish, salmon, and mackerel

Hot dogs or deli meats unless steaming hot

Refrigerated meat spreads

Unpasteurized milk or juices

Store-made salads, such as chicken, egg, or tuna salad

Unpasteurized soft cheeses, such as unpasteurized feta, Brie, queso blanco, queso fresco, and blue cheeses

Raw sprouts of any kind (including alfalfa, clover, radish, and mung bean)

Too much caffeine. Drinking high amounts of caffeine may be harmful to your baby. Small or moderate amounts of caffeine (less than 200 mg (milligrams) per day) appear to be safe during pregnancy. This is the amount in about 12 ounces of coffee. But, more research is needed. Check with your health-care provider about whether drinking a limited amount of caffeine is okay for you.

Section 2.3 | Folic Acid: An Important Part of a Healthy Pregnancy

This section includes text excerpted from Folic Acid, Office on Women’s Health (OWH), U.S. Department of Health and Human Services (HHS), April 1, 2019.

Folic acid is a form of folate (a B vitamin) that everyone needs. If you can get pregnant or are pregnant, folic acid is especially important. Folic acid protects unborn babies against serious birth defects. You can get folic acid from vitamins and fortified foods, such as bread, pasta, and cereals. Folate is found naturally in foods such as leafy green vegetables, oranges, and beans.

What Are Folic Acid and Folate?

Folic acid is the human-made form of folate, a B vitamin. Folate is found naturally in certain fruits, vegetables, and nuts. Folic acid is found in vitamins and fortified foods.

Folic acid and folate help the body make healthy new red blood cells (RBCs). RBCs carry oxygen to all the parts of your body. If your body does not make enough RBCs, you can develop anemia. Anemia happens when your blood cannot carry enough oxygen to your body, which makes you pale, tired, or weak. Also, if you do not get enough folic acid, you could develop a type of anemia called folate-deficiency anemia.

Why Do Women Need Folic Acid?

Everyone needs folic acid to be healthy. But, it is especially important for women:

Before and during pregnancy. Folic acid protects unborn children against serious birth defects called neural tube defects (NTDs). These birth defects happen in the first few weeks of pregnancy, often before a woman knows she is pregnant. Folic acid might also help prevent other types of birth defects and early pregnancy loss (miscarriage). Since about half of all pregnancies in the United States are unplanned, experts recommend all women get enough folic acid even if they are not trying to get pregnant.

To keep the blood healthy by helping red blood cells form and grow. Not getting enough folic acid can lead to a type of anemia called folate-deficiency anemia. Folate-deficiency anemia is more common in women of childbearing age than in men.

How Do You Get Folic Acid?

You can get folic acid in two ways.

Through the foods you eat. Folate is found naturally in some foods, including spinach, nuts, and beans. Folic acid is found in fortified foods (called enriched foods), such as bread, pasta, and cereals. Look for the term enriched on the ingredients list to find out whether the food has added folic acid.

As a vitamin. Most multivitamins sold in the United States contain 400 micrograms, or 100 percent of the daily value, of folic acid.

How Much Folic Acid Do Women Need?

All women need 400 micrograms of folic acid every day. Women who can get pregnant should get 400 to 800 micrograms of folic acid from a vitamin or from food that has added folic acid, such as breakfast cereal. This is in addition to the folate you get naturally from food.

Some women may need more folic acid each day. See the chart to find out how much folic acid you need.

Are Some Women at Risk for Not Getting Enough Folic Acid?

Yes, certain groups of women do not get enough folic acid each day.

Women who can get pregnant need more folic acid (400 to 800 micrograms).

Nearly one in three African-American women does not get enough folic acid each day.

Table 2.1. Amount of Folic Acid You May Need Daily

Spanish-speaking Mexican-American women often do not get enough folic acid. However, Mexican-Americans who speak English usually get enough folic acid.

Not getting enough folic acid can cause health problems, including folate-deficiency anemia, and problems during pregnancy for you and your unborn baby.

What Can Happen If You Do Not Get Enough Folic Acid during Pregnancy?

If you do not get enough folic acid before and during pregnancy, your baby is at higher risk for neural tube defects (NTDs).

Neural tube defects are serious birth defects that affect the spine, spinal cord, or brain and may cause death. These include:

Spina bifida. This condition happens when an unborn baby’s spinal column does not fully close during development in the womb, leaving the spinal cord exposed. As a result, the nerves that control the legs and other organs do not work. Children with spina bifida often have lifelong disabilities. They may also need many surgeries.

Anencephaly. This means that most or all of the brain and skull do not develop in the womb. Almost all babies with this condition die before or soon after birth.

Do You Need to Take Folic Acid Every Day Even If You Are Not Planning to Get Pregnant?

Yes. All women who can get pregnant need to take 400 to 800 micrograms of folic acid every day, even if they are not planning to get pregnant. There are several reasons why:

Your birth control may not work or you may not use birth control correctly every time you have sex. In a survey by the Centers for Disease Control and Prevention (CDC), almost 40 percent of women with unplanned pregnancies were using birth control.

Birth defects of the brain and spine can happen in the first few weeks of pregnancy, often before you know you are pregnant. By the time you find out you are pregnant, it might be too late to prevent birth defects.

You need to take folic acid every day because it is a water-soluble B-vitamin. Water-soluble means that it does not stay in the body for a long time. Your body metabolizes (uses) folic acid quickly, so your body needs folic acid each day to work properly.

What Foods Contain Folate

Folate is found naturally in some foods. Foods that are naturally high in folate include:

Spinach and other dark green, leafy vegetables

Oranges and orange juice

Nuts

Beans

Poultry (chicken, turkey, etc.) and meat

Whole grains

What Foods Contain Folic Acid

Folic acid is added to foods that are refined or processed (not whole grain):

Breakfast cereals (some have 100 percent of the recommended daily value – or 400 micrograms – of folic acid in each serving)

Bread and pasta

Flours

Cornmeal

White rice

Since 1998, the U.S. Food and Drug Administration (FDA) has required food manufacturers to add folic acid to processed bread, cereals, flours, cornmeal, pasta, rice, and other grains.

How Can You Be Sure You Get Enough Folic Acid?

You can get enough folic acid from food alone. Many breakfast cereals have 100 percent of your recommended daily value (400 micrograms) of folic acid.

If you are at risk for not getting enough folic acid, your doctor or nurse may recommend that you take a vitamin with folic acid every day. Most U.S. multivitamins have at least 400 micrograms of folic acid. Check the label on the bottle to be sure. You can also take a pill that contains only folic acid.

If swallowing pills is hard for you, try a chewable or liquid product with folic acid.

What Should You Look for When Buying Vitamins with Folic Acid?

Look for USP or NSF on the label when choosing vitamins. These seals of approval mean the pills are made properly and have the amounts of vitamins it says on the label. Also, make sure the pills have not expired. If the bottle has no expiration date, do not buy it.

Ask your pharmacist for help with selecting a vitamin or folic acid-only pill. If you are pregnant and already take a daily prenatal vitamin, you probably get all the folic acid you need.

Can You Get Enough Folic Acid from Food Alone?

Yes, many people get enough folic acid from food alone. Some foods have high amounts of folic acid. For example, many breakfast cereals have 100 percent of the recommended daily value (400 micrograms) of folic acid in each serving. Check the label to be sure.

Some women, especially women who could get pregnant, may not get enough folic acid from food. African-American women and Mexican Americans are also at higher risk for not getting enough folic acid each day. Talk to your doctor or nurse about whether you should take a vitamin to get the 400 micrograms of folic acid you need each day.

What Is Folate-Deficiency Anemia?

Folate-deficiency anemia is a type of anemia that happens when you do not get enough folate. Folate-deficiency anemia is most common during pregnancy. Other causes of folate-deficiency anemia include alcoholism and certain medicines to treat seizures, anxiety, or arthritis.

The symptoms of folate-deficiency anemia include:

Fatigue

Headache

Pale skin

Sore mouth and tongue

If you have folate-deficiency anemia, your doctor may recommend taking folic acid vitamins and eating more foods with folate.

Can You Get Too Much Folic Acid?

Yes, you can get too much folic acid, but only from human-made products such as multivitamins and fortified foods, such as breakfast cereals. You cannot get too much from foods that naturally contain folate.

You should not get more than 1,000 micrograms of folic acid a day unless your doctor prescribes a higher amount. Too much folic acid can hide signs that you lack vitamin B12, which can cause nerve damage.

Do You Need Folic Acid after Menopause?

Yes. Women who have gone through menopause still need 400 micrograms of folic acid every day for good health. Talk to your doctor or nurse about how much folic acid you need.

Are Folic Acid Pills Covered under Insurance?

Yes. Under the Affordable Care Act (ACA) (the health-care law), all Health Insurance Marketplace plans and most other insurance plans cover folic acid pills for women who could get pregnant at no cost to you. Check with your insurance provider to find out what is included in your plan.

Section 2.4 | Vaccinations for a Healthy Pregnancy

This section contains text excerpted from the following sources: Text in this section begins with excerpts from Vaccines for Pregnant Women, Vaccines.gov, U.S. Department of Health and Human Services (HHS), May 11, 2021; Text under the heading Congenital Rubella Syndrome is excerpted from Congenital Rubella Syndrome, Centers for Disease Control and Prevention (CDC), April 28, 2020; Text under the heading Varicella is excerpted from Varicella, Centers for Disease Control and Prevention (CDC), May 15, 2018.

Vaccines can help protect both you and your baby from vaccine-preventable diseases. During pregnancy, vaccinated mothers pass on infection-fighting proteins called antibodies to their babies.

Antibodies provide some immunity (protection) against certain diseases during their first few months of life when your baby is still too young to get vaccinated. It also helps provide important protection for you throughout your pregnancy.

To protect yourself and your baby, it is important to understand which vaccines you may need before, during, and after your pregnancy.

Which Vaccines Do You Need before You Get Pregnant?

If you are planning to get pregnant, it is important to make sure you are up to date on all of your adult vaccines. Check this easy-to-read vaccine schedule from the Centers for Disease Control and Prevention (CDC) to find routine vaccine recommendations by age.

Before your pregnancy, talk with your doctor about your vaccine history.

Congenital Rubella Syndrome

Congenital rubella syndrome (CRS) is an illness in infants that results from maternal infection with rubella virus during pregnancy. When rubella infection occurs during early pregnancy, serious consequences – such as miscarriages, stillbirths, and a constellation of severe birth defects in infants – can result. The risk of congenital infection and defects is highest during the first 12 weeks of gestation and decreases thereafter; defects are rare after infection in the 20th week (or later) of gestation. Common congenital defects of CRS include cataracts, congenital heart disease, hearing impairment, and developmental delay. Infants with CRS often present with more than one of these signs but may also present with a single defect, most commonly hearing impairment.

Vaccination

For specific information on vaccination with rubella-containing vaccines, refer to the Pink Book, which provides general recommendations, including vaccine scheduling and use, immunization strategies for providers, vaccine contents, adverse events and reactions, vaccine storage and handling, and contraindications and precautions.

Varicella

Varicella (chickenpox) is a febrile rash illness resulting from primary infection with the varicella-zoster virus (VZV). Humans are the only source of infection for this virus. Varicella is highly infectious, with secondary infection occurring in 61–100 percent of susceptible household contacts. Transmission occurs from person to person by direct contact with persons with either varicella or herpes zoster (shingles), inhalation of aerosols from vesicular fluid of skin lesions of persons with varicella or zoster, and through infected respiratory secretions that also may be aerosolized. The incubation period for varicella is 10–21 days, most commonly 14–16 days. Varicella is characterized by a pruritic, maculopapular, vesicular rash that evolves into noninfectious dried crusts over a 3- to 7-day period.

Varicella severity and complications are increased among immunocompromised persons, pregnant women, children younger than 1 year of age, and adults. However, healthy children may also develop serious complications and even die from varicella. Severe complications include secondary bacterial infections