Genetic Risks in pregnancy I High Risk Factors I birth defects

Which disorders carry genetic risks?

Genetic disorders is a category of diseases that includes certain types of birth defects, chronic diseases, developmental problems, and sensory deficits that are inherited from one or both parents.

Birth defects

Chronic diseases

Developmental problems

Sensory deficits

Some of the symptoms can be the same as those for conditions that are not inherited. Features can appear at birth (congenital heart disease, or cleft lip or palate) or during the course of childhood (developmental delays or learning problems). Diagnosis may involve a physical exam or targeted genetic testing.

What are the physical signs of genetic disorders?

The following list includes features that might suggest that your child has a genetic disorder. However, some of these characteristics are commonly found in people without a disorder. You'll want to check with your doctor if your child has at least two of the following features:

  • ear abnormalities

  • unusually shaped eyes

  • different colored eyes

  • facial features that are unusual or different from other family members

  • brittle or sparse hair

  • excessive body hair

  • white patches of hair

  • large or small tongue

  • misshapen teeth

  • missing or extra teeth

  • loose or stiff joints

  • unusually tall or short stature

  • webbed fingers or toes

  • excessive skin

  • unusual birthmarks

  • increased or decreased sweating

  • unusual body odor

What is genetic counseling and how do I know if I need it?

Genetic counseling can tell you whether you're at risk of developing a genetic disorder or having a child with a genetic disorder. Genetic counseling can also help you to make sense of the information and put it into context for your child. It may be conducted by a geneticist, a doctor with special training, or a genetic counselor, who will explain the cause of a disorder, availability of testing, prognosis, medical management, and treatment. Genetic counseling sessions typically last an hour or longer, depending on the complexity of your child's case is. There are many reasons to seek genetic counseling, including the following:

1. family history or previous child with:

  • chromosome abnormalities (such as Down syndrome)

  • cleft lip/palate

  • heart defects

  • mental retardation

  • neural tube defects

  • short stature

  • single gene defects (such as cystic fibrosis or PKU)

  • hearing or visual impairments

  • learning disabilities

  • psychiatric disorders

  • cancers

  • multiple pregnancy losses (miscarriages, stillbirths, or infant deaths)

2. a parent with an autosomal dominant disorder, or any disorder seen in several generations

3. pregnancy factors (mother older than 35 years)

4. mother with any of the following:

  • schizophrenia

  • depression

  • seizures

  • alcoholism

  • diabetes

  • thyroid disorder

  • fetal or parental exposure to certain drugs, chemicals, radiation, or infections

  • advanced paternal age at the time of conception

  • infertility cases where either parent is suspected of having a chromosome abnormality

  • couples requiring assisted reproductive techniques to achieve a pregnancy, or individuals donating eggs or sperm for those purposes

  • ethnic groups or geographic areas with a higher incidence of certain disorders, such as Tay-Sachs disease, sickle cell disease, or thalassemia

How we care for genetic disorders

The Division of Genetics and Genomics works closely with the Genetics Division's research laboratories to develop scientific findings into new treatments and cures for your child. Home to the world's only center studying rare “orphan” diseases that affect fewer than 200,000 people in the country, we are poised to become the richest database of genetic and clinical pediatric data in the world.

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This library is rich with resources that have been selected to support and inform the work of Parent Centers. The Library contains articles, fact sheets, training materials, webinars, and videos.

Heredity and Pregnancy I Genetic Risks

Genetic Disorders

Diagnosis & Treatments

How we look for genetic disorders

Boston Children's provides genetic testing for pregnant women, newborns, and children of all ages. In some cases, a diagnosis can be made after a physical exam. Most of the time, genetic disorders are diagnosed through a specific test, which can include examining chromosomes or DNA (the tiny proteins that make up genes), or testing the blood for certain enzymes that may be abnormal. Studying enzymes is called biochemical genetic testing.

At your initial appointment, a member of the genetics team (a genetic counselor, a clinical genetics fellow, and/or a geneticist) will review your medical, family, and pregnancy history and perform tests. Tests may include x-rays, an MRI, or genetic tests (usually blood or urine tests). Your child may also be referred to a specialty clinic within the hospital.

The different categories of genetic tests are:

  • Predictive genetic testing can tell you the chances that a healthy person with or without a family history of a certain disease might develop that disease. These diseases can include some types of cancer and heart disease.

  • Presymptomatic genetic testing can tell if a person with a family history for a genetic disease but does not have symptoms or has a genetic alteration associated with the disease.

  • Carrier testing can determine if a person carries one copy of a gene linked to a certain disease. An "autosomal recessive" disease means that the disease will appear only if two copies of the altered gene are inherited. Couples who both carry the same autosomal recessive gene have a one in four, or 25 percent, chance with each pregnancy to have a child with that disease.

  • Prenatal diagnosis is used to diagnose a genetic disease or condition in the developing fetus. Prenatal tests include screening blood, ultrasound (sonograms), amniocentesis, chorionic villus sampling (CVS), and percutaneous umbilical blood sampling (PUBS).

  • Preimplantation studies are used only in in vitro fertilization to diagnose a genetic disease in an embryo before it is implanted into the mother's uterus.

  • Newborn screening is used to check for certain genetic disorders that can be diagnosed and treated early in life.

How we address genetic disorders

Tying genetics to dyslexia allows us to identify a potential problem at birth, so that gives us the earliest possible chance to intervene. Doctors might make diagnoses using brain imaging, before reading even starts.~ — Christopher Walsh, MD, PhD, Boston Children's Hospital Chief of Genetics ~

Treatment of genetic disorders varies depending on the specific disease. In some cases, such as autism, the symptoms are treated with medication, behavioral, and educational interventions. Other disorders, such as PKU (phenylketonuria), can be managed through diet, while some of the physical symptoms of certain genetic diseases can be corrected with surgery. In many cases, your child will need ancillary services that may include speech therapy and occupational therapy, among others.

Whatever your child's diagnosis, a member of your child's genetic team will discuss treatment options with you and your family and make the appropriate referrals when necessary. We understand the kinds of challenges children and families with genetic disorders face and can connect you with outside resources for additional support.

Genetic Counseling

Printable Version

genetic counslor talking to a couple

What is Genetic Counseling?

Genetic counseling gives you information about how genetic conditions might affect you or your family. The genetic counselor or other healthcare professional will collect your personal and family health history. They can use this information to determine how likely it is that you or your family member has a genetic condition. Based on this information, the genetic counselor can help you decide whether a genetic test might be right for you or your relative.

Learn more about genetic counseling in the time of COVID-19.

Reasons for Genetic Counseling

Based on your personal and family health history, your doctor can refer you for genetic counseling. There are different stages in your life when you might be referred for genetic counseling:

  • Planning for Pregnancy: Genetic counseling before you become pregnant can address concerns about factors that might affect your baby during infancy or childhood or your ability to become pregnant, includingGenetic conditions that run in your family or your partner’s familyHistory of infertility, multiple miscarriages, or stillbirthPrevious pregnancy or child affected by a birth defect or genetic conditionAssisted Reproductive Technology (ART) options

  • During Pregnancy: Genetic counseling while you are pregnant can address certain tests that may be done during your pregnancy, any detected problems, or conditions that might affect your baby during infancy or childhood, includingHistory of infertility, multiple miscarriages, or stillbirthPrevious pregnancy or child affected by a birth defect or genetic conditionAbnormal test results, such as a blood test, ultrasound, Chorionic Villus Sampling (CVS), or amniocentesisMaternal infections, such as Cytomegalovirus (CMV), and other exposures such as medicines, drugs, chemicals, and x-raysGenetic screening that is recommended for all pregnant women, which includes cystic fibrosissickle cell disease, and any conditions that run in your family or your partner’s family

Following your genetic counseling session, you might decide to have genetic testing. Genetic counseling after testing can help you better understand your test results and treatment options, help you deal with emotional concerns, and refer you to other healthcare providers and advocacy and support groups.

Find a Genetics Specialist

There are various ways to access genetic counseling services, including in person, by phone, and by video conference.

Find a genetic counselor using the National Society of Genetic Counselors directory.

Find a genetics clinic using the American College of Medical Genetics and Genomics Genetics Clinics Database.

Birth Defects I High risk Pregnanct

High-risk pregnancy:
Know what to expect

If you have a high-risk pregnancy, you might have questions. Will you need special prenatal care? Will your baby be OK? Get the facts about promoting a healthy pregnancy.

By Mayo Clinic Staff

If you have a high-risk pregnancy, you or your baby might be at increased risk of health problems before, during or after delivery. Typically, special monitoring or care throughout pregnancy is needed. Understand the risk factors for a high-risk pregnancy, and what you can do to take care of yourself and your baby.

What are the risk factors for a high-risk pregnancy?

Sometimes a high-risk pregnancy is the result of a medical condition present before pregnancy. In other cases, a medical condition that develops during pregnancy for either you or your baby causes a pregnancy to become high risk.

Specific factors that might contribute to a high-risk pregnancy include:

  • Advanced maternal age. Pregnancy risks are higher for mothers older than age 35.

  • Lifestyle choices. Smoking cigarettes, drinking alcohol and using illegal drugs can put a pregnancy at risk.

  • Maternal health problems. High blood pressure, obesity, diabetes, epilepsy, thyroid disease, heart or blood disorders, poorly controlled asthma, and infections can increase pregnancy risks.

  • Pregnancy complications. Various complications that develop during pregnancy can pose risks. Examples include an unusual placenta position, fetal growth less than the 10th percentile for gestational age (fetal growth restriction) and rhesus (Rh) sensitization — a potentially serious condition that can occur when your blood group is Rh negative and your baby's blood group is Rh positive.

  • Multiple pregnancy. Pregnancy risks are higher for women carrying more than one fetus.

  • Pregnancy history. A history of pregnancy-related hypertension disorders, such as preeclampsia, increases the risk of having this diagnosis during the next pregnancy. If you gave birth prematurely in your last pregnancy or you've had multiple premature births, you're at increased risk of an early delivery in your next pregnancy. Talk to your health care provider about your complete obstetric history.

What steps can I take to promote a healthy pregnancy?

Whether you know ahead of time that you'll have a high-risk pregnancy or you simply want to do whatever you can to prevent a high-risk pregnancy, stick to the basics. For example:

  • Schedule a preconception appointment. If you're thinking about becoming pregnant, consult your health care provider. Your provider might counsel you to start taking a daily prenatal vitamin with folic acid and reach a healthy weight before you become pregnant. If you have a medical condition, your treatment might be adjusted in preparation for pregnancy. Your health care provider might also discuss your risk of having a baby with a genetic condition.

  • Seek regular prenatal care. Prenatal visits can help your health care provider monitor your health and your baby's health. You might be referred to a specialist in maternal-fetal medicine, genetics, pediatrics or other areas.

  • Avoid risky substances. If you smoke, quit. Alcohol and illegal drugs are off-limits, too. Talk to your health care provider about any medications or supplements you're taking.

Do I need special tests?

Depending on the circumstances, your health care provider might recommend:

  • Specialized or targeted ultrasound. This type of fetal ultrasound — an imaging technique that uses high-frequency sound waves to produce images of a baby in the uterus — targets a suspected problem, such as development that's not typical.

  • Prenatal cell-free DNA (cfDNA) screening. During this procedure, DNA from the mother and fetus is extracted from a maternal blood sample and the fetal DNA is screened for the increased chance of specific chromosome problems.

  • Invasive genetic screening. Your health care provider might recommend amniocentesis or chorionic villus sampling (CVS). During amniocentesis, a sample of the fluid that surrounds and protects a baby during pregnancy (amniotic fluid) is withdrawn from the uterus. Typically done after week 15 of pregnancy, amniocentesis can identify certain genetic conditions as well as serious problems of the brain or spinal cord (neural tube defects).During CVS, a sample of cells is removed from the placenta. Typically done between weeks 10 and 12 of pregnancy, CVS can identify certain genetic conditions.

  • Ultrasound for cervical length. Your health care provider might use an ultrasound to measure the length of your cervix at prenatal appointments to determine if you're at risk of preterm labor.

  • Lab tests. Your health care provider will test your urine for urinary tract infections and screen you for infectious diseases such as HIV and syphilis.

  • Biophysical profile. This prenatal ultrasound is used to check on a baby's well-being. It might involve only an ultrasound to evaluate fetal well-being or, depending on the results of the ultrasound, also fetal heart rate monitoring (nonstress test).

Some prenatal diagnostic tests — such as amniocentesis and chorionic villus sampling — carry a small risk of pregnancy loss. The decision to pursue these tests is up to you and your partner. Discuss the risks and benefits with your health care provider.

What else do I need to know about high-risk pregnancy?

Talk to your health care provider about how to manage any medical conditions you have during pregnancy and how your health might affect labor and delivery. Contact your health care provider if you have:

  • Vaginal bleeding or watery vaginal discharge

  • Severe headaches

  • Pain or cramping in the lower abdomen

  • Decreased fetal activity

  • Pain or burning with urination

  • Changes in vision, including blurred vision

  • Sudden or severe swelling in the face, hands or fingers

  • Fever or chills

  • Vomiting or persistent nausea

  • Dizziness

  • Thoughts of harming yourself or your baby

A high-risk pregnancy might have ups and downs. Do your best to stay positive as you take steps to promote a healthy pregnancy.



genetic screening during pregnancy

This guest post is an article specially written for by Alison Woods

genetic screening during pregnancy

There are always risks to pregnancy and some of them are linked to genetics. Even though birth defects are only found in 1 out of every 33 births, it can be helpful for mothers and mothers-to-be to go through a genetic screening. These tests performed before and during pregnancy can help parents understand the possible conditions that could complicate the pregnancy and the baby’s health.

Before taking genetic screening tests, you must first consult with an obstetrician-gynecologist (ob-gyn) and genetic healthcare experts on which tests are appropriate for you. Nurses, who are highly involved in the pregnancy, can also suggest, plan, implement, and even administer screening tests that can benefit your health and the baby’s. Genetics nurses are practitioners who have passed their BSN, and those who have this qualification are trained to evaluate your family’s medical history for any risk of inheritable diseases. Genetics nurses, along with genetics counselors and other genetic healthcare experts, can work hand-in-hand with your ob-gyn in prescribing genetic diagnostic tests, which will be discussed here.

Types of Genetic Screening Tests

There are over 1,000 genetic tests available for use, so expectant mothers may get overwhelmed! However, healthcare professionals most frequently conduct the following genetic screening tests for moms-to-be:

1. Blood Tests

Blood works can be administered before and during your pregnancy for carrier screening. This type of test can determine if you are carrying a gene for a disease that can be passed down to your child. Your blood sample can also be used to conduct Cell-Free DNA screening to assess your child’s risk for Down’s Syndrome, Trisomy 13, and Trisomy 18.

2. Chronic Villus Sampling

Chronic villus sampling is usually performed in the first trimester of your pregnancy to detect chromosomal abnormalities and other genetic diseases such as cystic fibrosis and sickle cell anemia. It’s recommended for mothers who will be 35 on their due date and who have a history of birth defects in the family and abnormal genetic test results prior.

3. Amniocentesis

Amniocentesis is usually prescribed for couples who have been identified as carriers for autosomal recessive disorders and other inherited disorders, like Huntington disease, TaySachs disease, and even congenital heart defects. If your family has a history of those conditions or if you have abnormal ultrasound findings, it’s recommended that women go through this test.

Things to Consider Before Undergoing the Tests

1. Family Medical History

If you haven’t already, take the time to gather information regarding the medical history of both your family and your partner’s family. Your medical provider will be able to guide you better once they know all the possible genetic conditions that you need to look out for.

2. The Schedule of the Tests

Some genetic screening tests are invasive, so moms-to-be should take their time to rest and recover after an exhausting procedure. Most importantly, some tests can only be done in specific trimesters. For example, chronic villus sampling is done within your 10th to 12th week of pregnancy, while amniocentesis can only be performed in your 15th to your 20th week.

3. The Risks of Prenatal Screening

As an expectant mother, be aware of the risks of prenatal genetic tests. Most medical practitioners prefer prenatal blood tests over amniocentesis or chronic villus sampling because these more invasive tests can cause physical pain and carry a slight risk of miscarriage. It is normal to experience worry and anxiety while waiting and also after receiving the results. Having a good support system as well as a trusted healthcare provider can bring ease throughout the whole process.

Getting a Genetic Screening Test

Moms and their partners take various factors into account before getting a genetic screening test. If you and your partner fall under these categories, it is recommended that you consider getting screened:

1. Your age is above 34
2. You and your partner may be carriers for genetic diseases
3. You got a concerning result from a prenatal screening test
4. You experienced two or more miscarriages

As a mom, we believe you know and want what’s best for your child and take that into account when choosing whether or not to have genetic screening in pregnancy. As an expecting mother, you can learn more about your baby’s health and condition through these genetic screening tests.

Article was specially written for by Alison Woods

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Preventing and Treating Birth Defects:

What You Need to Know
Ahmet Alexander Baschat, M.D.

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.

  • 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.

A routine prenatal ultrasound in the second trimester can identify early signs of Autism Spectrum Disorder (ASD), a new study by Ben-Gurion University of the Negev and Soroka Medical Center has found

The researchers examined data from hundreds of prenatal ultrasound scans from the fetal anatomy survey conducted during mid-gestation. They found anomalies in the heart, kidneys, and head in 30% of fetuses who later developed ASD, a three times higher rate than was found in typically developing fetuses from the general population and twice as high as their typically developing siblings.

Anomalies were detected more often in girls than in boys and the severity of the anomalies was also linked to the subsequent severity of ASD.

This study and others will be discussed at the Israeli Meeting for Autism Research to be held February 15-16 at BGU.

"Doctors can use these signs, discernable during a routine ultrasound, to evaluate the probability of the child being born with ASD," says Prof. Menashe, "Previous studies have shown that children born with congenital diseases, primarily those involving the heart and kidneys, had a higher chance of developing ASD. Our findings suggest that certain types of ASD that involve other organ anomalies, begin and can be detected in utero."

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:

  • 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 through fetoscopic 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.


 Resources for  Information on Birth Defects

Printable Versions
Family playing outside.

This section of our website has tools and information about birth defects for families.

Facts about Birth Defects
Find basic information about birth defects, including causes, diagnosis, and prevention.

Specific Birth Defects
Learn more about specific birth defects.

Preventing Birth Defects
Learn ways to help prevent birth defects.

The Health Care Provider’s Role
Find information about what to expect from the child’s health care provider.

Genetic Counseling
Learn about genetics and how a genetic counselor can help families that have a child with a birth defect.

Finding Support
Get tips for how to connect with other parents who have a child with the same type of birth defect.

Free Materials
View, print and order FREE brochures on how to prevent some birth defects, including:

  • Folic acid

  • Alcohol use in pregnancy

  • Infections in pregnancy

Links to Other Website

Find more information and resources on birth defects from other organizations.

National Center on Birth Defects and Developmental Disabilities

Centers for Disease Control and Prevention

Links to Other Resources on Birth Defects

Printable version

American College of Medical Genetics (ACMG)
The ACMG provides education, resources and a voice for the medical genetics profession. To make genetic services available to and improve the health of the public, the ACMG promotes the development and implementation of methods to diagnose, treat and prevent genetic diseases.

American Academy of Pediatrics
This organization is comprised of pediatricians committed to the health of infants, children, adolescents, and young adults. The website contains general information about children’s health as well more specific information about guidelines, policies, and publications. This organization also hosts a website specifically for parents called

American College of Obstetrics and Gynecology
This organization is comprised of physicians committed to providing health care for women. Their website provides general information about women’s health issues during pregnancy including educational pamphlets about birth defects.

HHS Women’s Health Information Center
A web site and toll-free call center that provide free, reliable health information for women everywhere. The site contains a database of resources and contains topic areas such as pregnancy and medications.

The U.S. Department of Health and Human Services has resources on a wide range of health topics selected from over 1,600 government and nonprofit groups.

International Clearinghouse for Birth Defects Surveillance and Research (ICBDSR)
The ICBDSR brings together birth defect programs from around the world with the aim of conducting worldwide surveillance and research to prevent birth defects and to ameliorate their consequences.

March of Dimes
The March of Dimes is dedicated to improving the health of babies by preventing birth defects, premature birth and infant mortality. Find information, resources, tools, and fact sheets.

Medline Plus
Medline Plus has information available about pregnancy. Searching this website provides information on many different types of birth defects. It includes information on prevention and screening, research, organizations, and more.

MotherToBaby, a service of the non-profit Organization of Teratology Information Specialists, provides evidence-based information to mothers, health care professionals, and the general public about medications and other exposures during pregnancy and while breastfeeding. Talk directly to the experts behind the most up-to-date research!

National Birth Defects Prevention Network (NBDPN)
The mission of the NBDPN is to establish and maintain a national network of state and population-based programs for birth defects. Tools and resources include birth defects prevention month packets, surveillance guidelines, and folic acid information.

National Birth Defects Prevention Study
The National Birth Defects Prevention Study (NBDPS) looks at risk factors and potential causes ofbirth defects. Understanding the potential causes of birth defects can lead to recommendations, policy planning, and services to help prevent them.

National Environmental Public Health Tracking
The goal of environmental public health tracking is to protect communities by providing information to federal, state, and local agencies. Find a communications library, data resources, and publications.


National Center on Birth Defects and Developmental Disabilities

Centers for Disease Control and Prevention

In-Utero— Testing for Birth defects


condition in-utero

Source: Mart Production / Pexels

Navigating pregnancy and childbirth is exciting and wonderful. But, if your baby is diagnosed with a congenital disease in-utero, the experience can quickly evolve into one defined by fear and uncertainty about how to find the best care for your unborn child and for yourself. Usually, nothing in life has prepared us for this journey. To help, we’ve called upon the experts at The Chicago Institute for Fetal Health at Ann & Robert H. Lurie Children’s Hospital to help you understand what a fetal complication or diagnosis means for your family and to demystify the path to the best possible care.

With more than 40 years of experience, The Chicago Institute for Fetal Health (CIFH) is a regional leader in the research and care of pregnant patients with fetal complications. As one of only a few comprehensive fetal centers in the country, the Institute offers prenatal counseling and care, as well as corrective fetal intervention when needed. Their goal? To empower you through an individualized process of diagnosis, counseling and care by a team of specialists, assembled specifically for your situation, regardless of your child’s condition or where you will be delivering. If you’re looking for all things surrounding fetal health conditions, look no further… the CIFH has you covered

1. What does a fetal complication or diagnosis mean for me, my child, and the rest of my pregnancy?

When an expectant mother first learns that her unborn baby has been diagnosed with a medical condition, feelings of sadness, worry, anger, and guilt are common. Very quickly, these emotions transition to questions of how this disease will affect my baby’s life and if anything can be done to make it better. That’s where the CIFH comes in.

The CIFH specializes in the comprehensive counseling, coordination, and treatment that will be needed. Their philosophy revolves around you as the patient and the sensitivity, support and expertise that is needed from the beginning. They noted that most birth conditions are not preventable and often encourage families to let go of the guilt surrounding the diagnosis. Instead, they would like you to channel your energy into learning about the baby’s condition and the treatments that are available.

The Institute is a comfortable and private environment, but is equipped with the latest technology needed for the diagnosis and care of essentially any fetal condition.  You will feel surrounded by knowledgeable and caring experts who will partner with you from the first encounter, through the remainder of your pregnancy and beyond.  Every patient’s needs are different, and the goal is to work with you to find the best solution for you. Importantly no patient is ever turned away due to an inability to pay for needed care.

They also noted that not all fetal anomalies require treatment. Per the experts at CIFH, some conditions may resolve on their own before birth. Others may require specialized care during delivery or soon after the baby is born. And for the more extreme circumstances, the experts acknowledged that fetal surgery may be an option to treat the diagnosis.

2. When are abnormalities typically detected during pregnancy?

Within the fifth month of pregnancy (at 20 weeks of gestation), women typically have an ultrasound that serves several purposes. Per the experts at the CIFH, it is at this point that the doctor looks for abnormalities in blood flow, organ, and bone development.

“Typically, anywhere between 17-24 weeks of gestation is when fetal anomalies are
generally detected and diagnosed,” Dr. Aimen Shaaban, Director of The Chicago Institute for Fetal Health, stated. He went on to note that the diagnosis can either be made through ultrasound or through prenatal genetic testing.

pregnant woman

Source: Canva

3. If there are any sort of abnormalities detected by my OB during a routine appointment, what are my next steps?

After the diagnosis is made by your OB or Maternal-Fetal Medicine Specialist, the next step is to find a comprehensive fetal care center like the CIFH, that can provide better insight into the severity of the diagnosis and manage care from pregnancy to birth and beyond. Whether you need additional diagnostic studies, more counseling or specialized care like fetal surgery or complex newborn surgery, the CIFH is available to help you navigate what to expect moving forward. Communication and coordination will continue with your obstetrician and maternal-fetal medicine physicians to ensure all the key people are prepared for the delivery and expected care after the baby is born. 

4. What is a comprehensive fetal care center and why is a multidisciplinary team important?

In recent years, a handful of comprehensive fetal care centers like the CIFH have emerged nationally as regional centers to integrate multidisciplinary care of the mother and baby in a one-stop-shop to provide the best possible outcomes for families dealing with a high-risk pregnancy related to a prenatal diagnosis. Multidisciplinary care teams are made up of specialists from a variety of medical departments who collaborate and provide unique insight into diagnoses and care plans, individualized for each patient. At the CIFH, key players on the multidisciplinary team include specialists from: 

  • Fetal Surgery

  • Maternal-Fetal Medicine

  • Neonatology

  • Fetal Radiology 

  • Fetal Cardiology

  • Pediatric Surgeons

  • Fetal Neurosurgery

  • Pediatric ENT

  • Pediatric Urology

  • Pediatric Nephrology

  • Pediatric Neurology

  • Pediatric Genetics

  • Pediatric Endocrinology

  • Pediatric Heart Surgery

  • Pediatric Plastic Surgery

  • Pediatric Orthopedics

  • Genetic counselors

  • Fetal Therapy Nurses

  • Social Workers with Expertise in Prenatal Care

  • And More…

Specialists from nearly 25 medical disciplines converge at the CIFH to empower expectant mothers and their families with the knowledge and teamwork that is needed for the best possible outcome. This method provides high-quality, well-rounded care to patients and their families including fetal surgery if needed. With each team member focused on a different aspect of the patient’s health, areas of need are more likely to be identified and better managed.

5. What does an initial appointment with a fetal health team look like? What happens during the consultation?

Before the first appointment

Prior to your arrival, the team at the CIFH will coordinate with your referring physician to obtain and review your medical records. A Fetal Nurse Coordinator will speak with you by phone to better understand your specific needs and provide you with an overview of what to expect at your visit. Next, your case will be reviewed by the Institute’s Director and members of the care team to facilitate continuity of care and ensure that the necessary specialties are present for your consultation. “Our goal is to make the day as easy and as helpful as possible for you and your family,” noted Dr. Amir Alhajjat, who is the Fetal Surgery Co-Director for the Institute. “When you arrive, one of our team members will meet you and escort you to your appointments throughout the day.”

chicago institute for fetal health

Source: Chicago Institute for Fetal Health

 Onsite imaging during the visit

The imaging done at the CIFH will go far beyond what was done in your Obstetrician’s or MFM’s office and will greatly assist in the diagnosis and counseling process. Some methods of imaging that you might encounter include: 

  • High-resolution ultrasound: using a wide array of specialized imaging techniques and measurements, the team can better understand the anatomy and function of the baby’s normal or affected organ systems

  • Fetal MRI: using specialized techniques, the doctors will see details of the inner body that are hidden from ultrasound and use this information to help answer questions about the fetal anatomic structure before birth

  • Fetal echocardiogram: a specialized ultrasound examination of the unborn baby’s heart

Consultation with a team of specialists—putting it all together

The experts at the CIFH noted that each consultation is individualized based on the needs of the mother, the baby and hospital where the delivery is planned. During a typical consultation, their multidisciplinary care teams will discuss:

  • The diagnosis and potential cause.

  • The impact on the health of the baby and the mother.

  • The best prenatal, delivery and newborn treatment. 

  • Fetal treatment and surgery if indicated. 

  • Expectations for the remainder of the pregnancy.

  • Preparing for delivery.

  • What to expect when the baby is born.

  • Medical care after birth.

  • The expected long-term outcome and any potential ongoing needs.

After a consult, each family will receive a folder containing information about the baby’s condition, Lurie Children’s and contact information for the physicians and team members who met with your family.

If the experts at CIFH anticipate that your baby will need specialized care in either the neonatal intensive care unit (NICU) or the Regenstein Cardiac Care Unit (CCU), a member of their team will provide a tour for expectant parents and family members. This allows you and your family to see the baby’s room, meet with some of the bedside nurses and become familiar with the care and amenities of these specialized units.  

If you’re looking for more information regarding fetal health conditions from leaders in the field, be sure to check out more information from the experts at The Chicago Institute for Fetal Health here. 

Proven Pregnancy-
Related Risk Factors for Autism

  • Multiple well-researched, large studies have found a link between certain pregnancy-related factors and autism, and the results have been reproduced in later studies.

  • These factors, therefore, are valid, though they raise the risk of autism only slightly. If it’s possible for you to minimize these risks, your likelihood of having a child with autism will be reduced.

Use of Antiepileptic Drugs

  • Some common antiepileptic drugs, particularly valproate (sold under the brand name Depakote), have been shown to increase the risk of autism when taken by the childbearing parent during pregnancy. Valproate, in particular, may raise the risk by as much as 10%.1

  • If you are considering pregnancy, talk with your neurologist about changing or even stopping your medication to reduce the risk of autism.

Use of Antidepressants

  • The use of antidepressants, particularly selective serotonin reuptake inhibitors (SSRIs)are also linked to autism risk.

  • The findings of a 2015 systematic review and meta-analysis support an increased risk of autism in children of mothers exposed to SSRIs during pregnancy.2

Older Parental Age

  • Quite a few large studies suggest that older parents are significantly more likely to have children with autism.3

  • There is some evidence to suggest that this phenomenon is more likely when the male genetic parent is older, though there is some evidence that the age of the childbearing parent is a factor, as well.

  •  Parent Age and Autism Risk

Preterm Birth

  • A number of studies have found an association between preterm birth and autism, as well as other developmental disorders. About 7% of children born preterm have autism, compared with 1%–2% of children in the general population.4

  • Low birth weight is a related risk. While there is no way to completely eliminate the risk of early delivery, it is possible to lower that risk.

  • Speak with your doctor if you are at increased risk of delivering early.

Gestational Diabetes

  • A large 2021 review showed that if the birth parent experiences gestational diabetes (diabetes first diagnosed when pregnant), there is a greater-than-average likelihood of having a child with autism.5 This type of diabetes is also associated with preterm birth, preeclampsia, and attention deficit hyperactivity disorder (ADHD).

  • Any form of diabetes mellitus in the birth parent can be a risk factor.6

  • Gestational diabetes can’t always be avoided, but it can be carefully managed with the support of a doctor. Maintaining healthy blood sugar levels during your pregnancy may minimize the impact the condition could have on fetal development.

  •  Causes and Risk Factors of Autism

Does Autism Begin in the Womb

Can I Find Out if My Unborn Baby Will Have Autism?

  • While the early signs of autism typically appear in the first one to two years of life, emerging research suggests there may be signs of autism during pregnancy. A 2022 study, which examined brain MRI scans of fetuses who were later diagnosed with autism, found certain regions (insula and amygdala) were enlarged. The researchers suggested that such findings during pregnancy may be able to predict the emergence of autism later in life.

  • Genetic testing only tests for anomalies in genes. 

  • Ultra sounds can pick up some traits as well


Detecting other Birth Defects

About birth defects

A birth defect is a problem that occurs when a baby is developing in utero (in the womb). Approximately 1 out of every 33 babiesTrusted Source in the United States is born with a birth defect.

Birth defects can be minor or severe. They may affect appearance, organ function, and physical and mental development. Most birth defects are present within the first three months of pregnancy, when the organs are still forming. Some birth defects are harmless. Others require long-term medical treatment. Severe birth defects are the leading cause of infant death in the United States, accounting for 20 percentTrusted Source of deaths.

What causes birth defects?

Birth defects can be a result of:

  • genetics

  • lifestyle choices and behaviors

  • exposure to certain medications and chemicals

  • infections during pregnancy

  • a combination of these factors

However, the exact causes of certain birth defects are often unknown.


The mother or father may pass on genetic abnormalities to their baby. Genetic abnormalities occur when a gene becomes flawed due to a mutation, or change. In some cases, a gene or part of a gene might be missing. These defects happen at conception and often can’t be prevented. A particular defect may be present throughout the family history of one or both parents.

Nongenetic causes

The causes of some birth defects can be difficult or impossible to identify. However, certain behaviors greatly increase the risk of birth defects. These include smoking, using illegal drugs, and drinking alcohol while pregnant. Other factors, such as exposure to toxic chemicals or viruses, also increase risk.

What are the risk factors for birth defects?

All pregnant women have some risk of delivering a child with a birth defect. Risk increases under any of the following conditions:

  • family history of birth defects or other genetic disorders

  • drug use, alcohol consumption, or smoking during pregnancy

  • maternal age of 35 years or older

  • inadequate prenatal care

  • untreated viral or bacterial infections, including sexually transmitted infections

  • use of certain high-risk medications, such as isotretinoin and lithium

Women with pre-existing medical conditions, such as diabetes, are also at a higher risk of having a child with a birth defect.

Common birth defects

Birth defects are typically classified as structural or functional and developmental.

Structural defects are when a specific body part is missing or malformed. The most common structural defects are:

  • heart defects

  • cleft lip or palate, when there’s an opening or split in the lip or roof of the mouth

  • spina bifida, when the spinal cord doesn’t develop properly

  • clubfoot, when the foot points inward instead of forward

Functional or developmental birth defects cause a body part or system not to work properly. These often cause disabilities of intelligence or development. Functional or developmental birth defects include metabolic defects, sensory problems, and nervous system problems. Metabolic defects cause problems with the baby’s body chemistry.

The most common types of functional or developmental birth defects include:

Some children face physical problems associated with specific birth defects. However, many children show no visible abnormalities. Defects can sometimes go undetected for months or even years after the child is born.

How are birth defects diagnosed?

Many types of birth defects can be diagnosed during pregnancy. A healthcare professional can use prenatal ultrasounds to help them diagnose certain birth defects in utero. More in-depth screening options, such as blood tests and amniocentesis (taking a sample of the amniotic fluid), may also be done. These tests are usually offered to women who have higher-risk pregnancies due to family history, advanced maternal age, or other known factors.

Prenatal tests can help determine whether the mother has an infection or other condition that’s harmful to the baby. A physical examination and hearing test may also help the doctor diagnose birth defects after the baby is born. A blood test called the newborn screen can help doctors diagnose some birth defects shortly after birth, before symptoms occur.

It’s important to know that prenatal screening doesn’t always find defects when they’re present. A screening test can also falsely identify defects. However, most birth defects can be diagnosed with certainty after birth.

How are birth defects treated?

Treatment options vary depending on the condition and level of severity. Some birth defects can be corrected before birth or shortly after. Other defects, however, may affect a child for the rest of their life. Mild defects can be stressful, but they don’t typically affect overall quality of life. Severe birth defects, such as cerebral palsy or spina bifida, can cause long-term disability or even death. Speak with your doctor about the appropriate treatment for your child’s condition.

Medications: Medications may be used to treat some birth defects or to lower the risk of complications from certain defects. In some cases, medication may be prescribed to the mother to help correct an abnormality before birth.

Surgeries: Surgery can fix certain defects or ease harmful symptoms. Some people with physical birth defects, such as cleft lip, may undergo plastic surgery for either health or cosmetic benefits. Many babies with heart defects will need surgery, as well.

Home care: Parents may be instructed to follow specific instructions for feeding, bathing, and monitoring an infant with a birth defect.

How can birth defects be prevented?

Many birth defects can’t be prevented, but there are some ways to lower the risk of having a baby with a birth defect. Women who plan to become pregnant should start taking folic acid supplements before conception. These supplements should also be taken throughout the pregnancy. Folic acid can help prevent defects of the spine and brain. Prenatal vitamins are also recommended during pregnancy.

Women should avoid alcohol, drugs, and tobacco during and after pregnancy. They should also use caution when taking certain medications. Some medications that are normally safe can cause serious birth defects when taken by a pregnant woman. Make sure to tell your doctor about any medications you may be taking, including over-the-counter drugs and supplements.

Most vaccines are safe during pregnancy. In fact, some vaccines can help prevent birth defects. There is a theoretical risk of harm to a developing fetus with some live-virus vaccines, so these kinds should not be given during pregnancy. You should ask your doctor which vaccines are necessary and safe.

Maintaining a healthy weight also helps reduce the risk of complications during pregnancy. Women with pre-existing conditions, such as diabetes, should take special care to manage their health.

It’s extremely important to attend regular prenatal appointments. If your pregnancy is considered high risk, your doctor can do additional prenatal screening to identify defects. Depending on the type of defect, your doctor may be able to treat it before the baby is born.

Genetic counseling

A genetic counselor can advise couples with family histories of a defect or other risks factors for birth defects. A counselor may be helpful when you’re thinking about having children or already expecting. Genetic counselors can determine the likelihood that your baby will be born with defects by evaluating family history and medical records. They may also order tests to analyze the genes of the mother, father, and baby.

Infections in PregnancyCleft Palate and LipCongenital Heart DiseaseEverything You Should Know About Congenital Brain DefectsWhen Baby Comes Early: What Is Your Risk?

Birth Defects

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About one in every 33 babies is born with a birth defect. Although not all birth defects can be prevented, people can increase their chances of having a healthy baby by managing health conditions and adopting healthy behaviors before becoming pregnant.

What are Birth Defects?

Preventing Birth Defects

Research & Tracking

Materials & Multimedia

Specific Birth Defects & Other Conditions

Data & Statistics

Highlighted Birth Defects Content

About CDC's Work

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Additional Resources

Last Reviewed:


December 22, 2022


National Center on Birth Defects and Developmental Disabilities

Centers for Disease Control and Prevention