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Preterm Labor & Birth.   Preeclampsia.   Recurrent Miscarriage.   Endometriosis.   Birth Defects.

Preterm Labor & Birth
What is Preterm Labor?
What causes Preterm Labor?
What are the Possible Causes and Risk Factors for Preterm Labor?
Why is PTL a Concern?
What are the Signs and Symptoms of Preterm Labor?
How is Preterm Labor Diagnosed?
What is the Treatment for Preterm Labor?
What Can I Do to Prevent Preterm Labor?


What is Preterm Labor?
Preterm labor (PTL) is a condition that results in the start of labor 37 weeks or less into a woman’s pregnancy (more than 3 weeks before her due date), resulting in preterm (premature) birth of the infant. Both normal labor and PTL are characterized by regular contractions of the uterus and thinning and widening of the cervix (effacement and dilation). If allowed to progress, the baby moves into the birth canal, and the amniotic sac (bag of water) is likely to break, resulting in preterm birth.  Preterm labor can happen to any pregnant woman.


What causes Preterm Labor?
It is not known for certain what causes labor to start. Evidence suggests that there can be several causes, which may vary from case to case and often occur in combination. Hormones produced by the mother, placenta and fetus, as well as uterine changes, may contribute to the onset of labor, but the exact mechanisms are poorly understood. There are many reasons for PTL, however; in most cases, the exact cause is not known. Only about half the women who have preterm labor fall into any known risk group.


What are the Possible Causes and Risk Factors for Preterm Labor?

• Previous PTL and/or preterm birth
• Pregnancy with twins, triplets or other multiples
• Preterm premature rupture of the membranes or PPROM (when the amniotic sac breaks before the baby is full term)
• Low socioeconomic status
• Non-white race
• Uterine, cervical or placental problems (cervical incompetence, DES exposure, placenta previa)
• Maternal behaviors (smoking, illicit drug use, alcohol use, lack of prenatal care)
• Maternal medical conditions (high blood pressure, diabetes, lupus, vascular disease)
• Infection during pregnancy, particularly of the amniotic fluid and lower genital tract (chlamydia, bacterial vaginosis, urinary tract infection)
• Underweight or overweight before or during pregnancy
• Bleeding in the second or third trimester of your pregnancy
• Stressful life events (death of loved one, domestic violence)

Why is PTL a Concern?
Premature birth is the greatest problem associated with preterm labor. Premature birth is the leading cause of death in newborn babies in the United States. Preterm labor results in premature birth with alarming and increasing frequency.  In the United States, approximately 12 percent of all births (1 in 8) are premature births. Growth and development in the last part of pregnancy are vital to the baby’s health. Premature birth takes the lives of many newborns and may cause cerebral palsy, chronic lung disease, blindness, hearing loss  and learning and behavioral problems in many of those who survive. The earlier the baby is born, the greater the chance he or she will have prolonged hospitalizations and long-term health and developmental problems.


What are the Signs and Symptoms of Preterm Labor?
Prompt recognition of the signs of preterm labor may help to postpone or prevent delivery of a premature baby.  Even a few more days may mean a healthier baby.

• Uterine contractions that occur more than six an hour that lasts for more than an hour, before 37 weeks gestation. These are often painless, you feel a tightening sensation in your abdomen.
• Change in type of vaginal discharge (watery, mucus or bloody).
• Increase in amount of vaginal discharge.
• Pressure in the pelvis or the sensation that the baby has “dropped”.
• Menstrual or abdominal cramps, with or without diarrhea.
• Constant, low backache.
• Vaginal spotting or bleeding.
• Ruptured membranes (your water breaks with a gush, or a trickle of fluid).

Sometimes the signs that preterm labor may be starting are fairly easy to detect, other times you may think it is only false labor (Braxton-Hicks contractions). If you have any of the above signs, or have concerns about what you are feeling, don’t wait. Call your health care provider or go to the hospital labor & delivery unit.


How is Preterm Labor Diagnosed?
Preterm labor can only be diagnosed by finding changes in the cervix when you are having uterine contractions.  This means you will need to go to your health care providers office or to the hospital labor & delivery unit.
To help diagnose PTL your health care provider may do the following tests: 

• Cervical examination-an exam by your health care provider of your cervix can help determine if the cervix has softened, shortened, thinned or dilated.
• Fetal monitoring-used to record the heartbeat of the baby and the frequency and duration of the uterine contractions.
• Ultrasound-to measure the length of the cervix and estimate the size, age and position of the baby.
• Testing for premature rupture of the membranes (amniotic sac/bag of water) and/or infections of the vagina or cervix.
• Fetal fibronectin test-a test used to measure the amount of a certain protein that helps predict the risk of preterm delivery.

What is the Treatment for Preterm Labor?
There are two ways to deal with preterm labor and a possible preterm birth:  try to delay the arrival of the birth as long as possible, and/or prepare the premature baby for arrival. Specific treatment for preterm labor will be determined by your health care provider based on:

• How far along you are in our pregnancy, your overall health and medical history
• How far labor has progressed
• The status of the baby
• Your tolerance for specific medications, procedures, or therapies
• Expectations for the course of the condition

Delaying the premature birth from occurring is typically the most desired as this gives the baby more time to mature in the womb. Your health care provider may try to stop labor if it is detected early enough and you and/or your baby are not in danger from infection, bleeding or other complications.
Some of the treatments for preterm labor may include:

• Restricted activity-avoid those activities that increase contractions
• Bedrest-either at home or in the hospital
• Hospitalization-for bedrest, medication and monitoring of you and your baby
• Tocolytic medication used to stop the contractions
• Corticosteroid medication that may help the babies lungs to mature
• Antibiotics to treat infection

If treatments do not stop preterm labor or the mother or baby is in danger, delivery of the baby may need to occur.


What Can I Do to Prevent Preterm Labor?
Many women without any risk factors will have a preterm baby, however; there are some things that can reduce the chance it will happen to you:

• Get prenatal care as soon as you think you are pregnant.  Regular prenatal care is a key factor in preventing preterm births and low birthweight babies. 
• Lead a healthy lifestyle-Stop smoking if you smoke, avoid second hand smoke and avoid drinking alcohol.
• Eat a healthy, balanced diet and do not skip meals
• Try to reduce stress
• Report any signs of a urinary tract infection (burning or pain when you urinate) to your health care provider.
• Manage any chronic conditions you may have.  If you have diabetes, high blood pressure or other chronic conditions, work with your health care provider to keep them under control.
• If you have had a previous preterm birth, treatment with the hormone progesterone may decrease your chance of having another premature baby.
• Know the signs of preterm labor and notify your health care provider if you have any of them.

Preeclampsia
What are the different types of high blood pressure that can occur in pregnancy?
What are the signs & symptoms of preeclampsia?
What causes preeclampsia?
Are there risk factors that increase my chance of developing preeclampsia?
How does preeclampsia affect my baby?
How is preeclampsia treated?
Can preeclampsia recur in another pregnancy?
Can preeclampsia be prevented?

What are the different types of high blood pressure that can occur in pregnancy?
Gestational hypertension:  This form of high blood pressure develops after the 20th week of pregnancy and goes away after delivery.  Women with gestational hypertension have high blood pressure, but do not have an increase of protein in their urine. Some women with gestational hypertension may develop preeclampsia later in pregnancy.

Chronic hypertension:  This is high blood pressure that is diagnosed before pregnancy or before the 20th week of pregnancy. It doesn’t go away after delivery. Chronic hypertension may have been present, but not diagnosed, before pregnancy.

Preeclampsia: Characterized by high blood pressure and protein in the urine, which develops after the 20th week of pregnancy and goes away after pregnancy. This is the most common of the potentially dangerous complications of pregnancy, and may affect both the mother and the fetus.

Chronic hypertension with preeclampsia:  Some women with chronic high blood pressure before their pregnancy, will go on to develop preeclampsia. They may exhibit worsening high blood pressure and protein in their urine during their pregnancy.
  
         
What are the signs & symptoms of preeclampsia?
Elevated blood pressure (hypertension) and the presence of excess of protein in your urine (proteinuria) after 20 weeks of pregnancy.
Other symptoms may include: 

• Swelling (edema) in the hands, feet or face. Some swelling is normal in pregnancy, but sudden swelling, especially under the eyes, or if an indentation is left when applying thumb pressure (pitting edema), can be significant and should be reported to your health- care provider.
• Headaches that just won't go away, even after taking medication for them.
• Vision changes such as blurriness, double vision, flashing lights or sensitivity to lights.
• Sudden weight gain of more than 2 pounds or more in one week or a sudden weight gain over 1-2 days.
• Nausea or pain in your upper abdomen usually under the ribs on the right side. This is sometimes mistaken for indigestion, the flu or gallbaldder pain, but can be significant and should be reported to your health care provider.
  
  

What causes preeclampsia?
Preeclampsia was once called toxemia, as it was thought to be caused by a toxin in the pregnant woman’s bloodstream. Although researchers no longer believe this to be the cause of preeclampsia, the exact causes are not completely understood. Several factors may contribute to the development of preeclampsia, which include:  placental abnormalities, genetic factors, immune factors, or dietary and environmental factors. 

Are there risk factors that increase my chance of developing preeclampsia?
Preeclampsia develops only during pregnancy in as many as one in every 12 pregnant women, some of who have no known risk factors.  The following risk factors have been shown to increase a pregnant woman’s chance of developing preeclampsia.

• First pregnancy
• Preeclampsia in a previous pregnancy
• Age-over 40 or under 18 years of age
• Overweight-higher than normal weight (BMI>30)
• Multiple pregnancy-pregnant with twins, triplets or multiples
• History of high blood pressure, diabetes, kidney disease, certain blood-clotting disorders or autoimmune disorders before pregnancy
• Family history of preeclampsia
• Gestational diabetes that develops during the pregnancy

                       
How does preeclampsia affect my baby?
Most women with preeclampsia deliver healthy babies. However, the more severe the preeclampsia and the earlier it occurs in the pregnancy, the greater the complications for you and your baby. Preeclampsia may cause your baby to have slow growth or low birth weight. Preeclampsia affects the arteries carrying blood to the placenta. If the placenta doesn’t get enough blood, the baby may not receive enough oxygen and nutrients to grow normally.
Premature delivery (before 37 weeks of pregnancy). Despite treatment, some women develop severe high blood pressure or other symptoms of worsening preeclampsia. Early or premature delivery of the baby may be necessary to prevent severe complications to both mother and baby.The biggest risk to the premature baby is that the lungs may not be developed enough to function well, making it difficult for the baby to breath. Premature babies are also at increased risk for chronic health problems and lasting disabilities.
Placenta abruption, where the placenta separates from the wall of the uterus before the baby is born, is a complication of preeclampsia.  Abruption may cause heavy bleeding or necessitate the baby being delivered early or premature.   
    

How is preeclampsia treated?
The only way to cure preeclampsia is to deliver the baby. However, if delivery would be too early (premature) for the health of the baby, the disease may be managed with other options until the baby has a good chance of surviving outside the womb. 
Treatment for preeclampsia depends on the severity of the problem, how far along the pregnancy is, and the overall health of you and your baby. The goal of treatment is to prevent the condition from becoming worse and to prevent it from causing other complications. Treatment for preeclampsia may include the following:

• Bedrest - Either at home or in the hospital. The degree of bedrest and whether you are able to stay at home or need hospitalization will depend on the severity of the preeclampsia.  If you have more severe preeclampsia, you will need bedrest in the hospital.
• Medication - Your health care provider may recommend medication to help lower your blood pressure. If you are hospitalized, you may be given magnesium sulfate to help stabilize the preeclampsia and prevent seizures. Corticosteroids, that may help your baby’s lungs to develop, may also be given.
• Monitoring - Careful monitoring of your blood pressure, urine and weight by your health care provider.
• Fetal monitoring - To check the health of your baby. Fetal monitoring tests may include:
• Fetal movement counting - keeping track of fetal kicks and movements. A change in the amount of movement may mean the fetus is under stress.
• Nonstress testing - this measures the fetal heart rate in response to fetus’ movements.
• Biophysical profile - this test combines the nonstress test with an ultrasound to observe the fetus.
• Doppler flow studies - a type of ultrasound that uses sound waves to measure the flow of blood through a blood vessel.
  
  

Can preeclampsia recur in another pregnancy?
There is no absolute way to predict reoccurrence of preeclampsia in subsequent pregnancies. The biggest risk factor for developing preeclampsia is having had preeclampsia in a previous pregnancy. If you have had preeclampsia during a pregnancy, discuss this with your health care provider if you become pregnant again.


Can preeclampsia be prevented?
Currently, there is no way to prevent preeclampsia. Early identification of women at risk for preeclampsia may help prevent some of the complications of the disease. It is important for all pregnant women to start early and regular prenatal care and continue through the pregnancy. Early recognition of the risk factors and the symptoms of preeclampsia, will help you and your health care provider work together to prevent complications and to make the best choices for you and your baby. 

Recurrent Miscarriage
How is Recurrent Miscarriage Defined?
What Causes Repeated Miscarriages?
What are the Identified Risk Factors?
What are the Sign & Symptoms of Recurrent Miscarriage?
How is the Diagnosis of Recurrent Miscarriage Made?
What is the Treatment for Recurrent Miscarriage?
Can Recurrent Miscarriages be Prevented?

How is Recurrent Miscarriage Defined?
Miscarriage is the loss of a pregnancy before 20 weeks, occurring in approximately 15 to 20% of all recognized pregnancies. Recurrent miscarriage, also called recurrent/repeated pregnancy loss or habitual abortion, affects from 1-5% of all recognized pregnancies. It is defined as the occurrence of three or more clinically recognized consecutive pregnancy losses before 20 weeks gestation.    


What Causes Repeated Miscarriages?
Although there are many reasons for repeated miscarriage; at least half the time, no cause can be found. Potential causes of recurrent miscarriage generally fall into the following areas:

Genetic: Genetic abnormalities are the single most common cause for pregnancy loss.  More than half of all early pregnancy losses are due to chromosomal abnormalities. Recurrent miscarriage may result from chromosomal abnormalities that involve either a structural abnormality derived from one parent, or the recurrence of a numerical abnormality, which is usually not inherited.  About 60% of early miscarriages may be caused by a random chromosomal abnormality, usually a missing or duplicated chromosome.

Autoimmune/hematologic: An increased rate of miscarriage and pregnancy loss is seen in women who have antiphospholipid antibodies (APLAs).  Antiphospholipid antibody syndrome (APS) is an autoimmune disorder manifested by elevated levels of the APLAs with recurrent pregnancy loss, fetal death, and/or thrombosis.  Blood tests for APLAs and lupus anticoagulant may identify women with APS.  Thrombophilia is a type of disorder that makes the blood clot more readily.  Genetic defects in the coagulation pathways that can lead to thrombophilia will result in increased thrombin formation, the most common being a mutation in the Factor V Leiden. The Factor V Leiden mutation allows clots to form in the blood vessels to the placenta and lead to miscarriage.

Anatomical: Distortion of the uterine cavity either by congenital or acquired abnormalities can cause recurrent miscarriage. Congenital abnormalities include unicornuate uterus, arcuate uterus, septate uterus, bicornuate uterus or a T-shaped uterine cavity caused by DES exposure.  Acquired abnormalities include uterine fibroids, polyps and Asherman’s syndrome (scar tissue in the uterine cavity).

Infection: The role of infection in recurrent miscarriage is unclear.  It is difficult to prove that microorganisms lead to recurrent pregnancy loss, as the same microorganism would need to be cultured out with each pregnancy loss.  Several different types of infections that have been implicated with recurrent miscarriage include: Chlamydia, rubella, listeriosis, herpes simplex virus, cytomegalovirus (CMV), and toxoplasmosis.  Women should be treated for any recognized vaginitis, cervicitis or chronic genital infections prior to getting pregnant.

Environmental: Maternal smoking, caffeine and alcohol consumption, and illicit drug use, such as cocaine, have been shown to increase a woman’s risk of miscarriage.  The use of Accutane, to treat severe acne, and certain other medication such as nonsteroidal anti-inflammatory drugs, and aspirin are also associated with miscarriage.  Maternal obesity and low maternal weight have both been associated with unfavorable pregnancy outcome, as well as exposure to radiation and environmental toxins.  

Hormonal/Maternal Medical Conditions: Women with certain chronic medical conditions are at a higher risk of recurrent pregnancy loss.  Monitoring the disease and working to have it in good control will increase the woman’s chance of a successful pregnancy.  Medical conditions that may cause problems with a pregnancy include: lupus and other autoimmune diseases, uncontrolled diabetes and thyroid disease, heart disease, polycystic ovary syndrome or severe kidney disease, especially when linked with high blood pressure.
           
The implantation process and early fetal development can be disrupted by various hormonal problems.  The hormone, progesterone plays an important role during implantation and pregnancy, as it prepares the lining of the uterus to nourish the fertilized egg.  If progesterone levels are too low to maintain the pregnancy, miscarriage can occur. 


What are the Identified Risk Factors?
Several factors that have been associated with a higher rate of recurrent miscarriage include:

• Maternal age (risk increases, as maternal age increases)
• Advanced age of sperm 
• Multiple pregnancy
• High fever in early pregnancy
• Trauma to the abdomen
• Poor nutrition
• An IUD in place at conception
• Previous miscarriage
• Low levels of the B-complex vitamin folic acid
• Underweight or maternal obesity
• Use of donor egg with assisted reproductive technology
• Amniocentesis or chorionic villus sampling prenatal genetic tests

• Pelvic pain or cramping
• White-pink mucous or discharge
• Brown or bright red bleeding or spotting
• Decrease in signs of pregnancy, such as morning sickness or loss of breast tenderness
• Frequent bowel movements
• Weight loss

• Blood tests-to detect hormonal problems, infections and immune system disorders (lupus, antiphospholipid syndrome) in the mother.
• Genetic testing-of both parents to detect chromosomal abnormalities.
• Transvaginal ultrasound-to identify any abnormalities in the vagina, uterus, fallopian tubes, or ovaries.
• Hysterosalpingography (HSG)-X-ray of the uterus and fallopian tubes used to look for blockages.
• Hysteroscopy-a test used to view the uterus with a thin telescope inserted through the cervix into the uterus.  Usually done if the HSG test is abnormal.
• Sonohysterogram-a vaginal ultrasound with the use of saline injected into the uterus to view uterine or cervical abnormalities.
• Endometrial biopsy-removal and analysis of a sample of endometrial tissue to determine of the tissue that lines the uterus is sufficient to allow implantation and growth of the embryo.

• Surgery to correct any problems with the shape of your uterus or blockages in the fallopian tubes. 
• Medications may be necessary to treat infections, immune problems or hormone imbalances.
• Genetic counseling may be recommended after recurrent miscarriages, genetic testing or a family history of genetic diseases. 
• Lifestyle changes (quit smoking, alcohol, caffeine and drug use) and avoiding environmental and occupational exposures play an important role in the management and treatment plan.

Can Recurrent Miscarriages be Prevented?
If you have repeated miscarriages, you need to plan ahead and work with your health care provider before the next pregnancy.  Early prenatal care is important to ensure optimal conditions for the pregnancy to occur.  Because most miscarriages are caused by chromosomal abnormalities, there is little that can be done to prevent miscarriages from occurring.  However, to improve your chance of having a successful pregnancy, the following is recommended:

• Have a complete medical workup, including genetic testing, before trying to get pregnant again.
• If you think you might be pregnant, see you health care provider right away and receive good prenatal care.
• Maintain a healthy lifestyle by eating healthy, exercising regularly, managing stress, avoiding alcohol, tobacco and recreational drugs, taking a daily supplement of folic acid and maintaining a healthy weight.
• Check with your health care provider before taking any over-the-counter or prescription medications.
• Have someone else clean the cat liter box to avoid toxoplasmosis exposure.
• Avoid contact sports or activities that may cause trauma to your abdomen.
• Avoid certain foods that may have harmful bacteria that can cause miscarriage-raw or uncooked meats, raw eggs and shellfish, unpasteurized milk.
• Wash fruits and vegetables before eating them.
  
  

Endometriosis
What is Endometriosis?
What Causes Endometriosis?
Who is at Risk for Having Endometriosis?
What are the Signs & Symptoms?
How is Endometriosis Diagnosed?
How is Endometriosis Treated?
Does Endometriosis Affect Fertility and Getting Pregnant?

What is Endometriosis?
Endometriosis is a common gynecological condition that affects women during their reproductive years.  In endometriosis, the normal tissue that lines the uterus, the endometrium, attaches to other organs in the pelvis and begins to grow.  The fallopian tubes, ovaries or tissue lining the pelvis are most often affected.  This displaced endometrial tissue acts like it normally would during a menstrual cycle, as it thickens, breaks down and bleeds each month. The blood has nowhere to exit the body and becomes trapped causing irritation in the pelvis and surrounding tissue.  The trapped blood can lead to cysts, scar tissue and adhesions, which can cause pelvic pain, especially during your period.

What Causes Endometriosis?
The exact cause of endometriosis is unknown, but a number of theories have been advanced.
One theory is called “retrograde menstrual flow”. According to this theory, during menstruation some of the menstrual tissue backs up into the abdomen through the fallopian tubes. This transplanted tissue then grows outside the uterus. During a normal menstrual period, most women get some retrograde menstrual flow, yet not all of these women have endometriosis. Researchers are trying to uncover what other factors, such as an immune system problem and/or hormonal problem, that causes this tissue to grow and develop into endometriosis in some women, and not in others.
Another theory, the one we are researching, is that endometriosis is caused by genes. This theory suggests that certain families may have predisposing factors for the disease. Endometriosis could be inherited, or it could result from genetic errors, making some women and their female relatives, more likely to develop the condition than others.  It is well recognized that if your mother or sister has endometriosis, you are more likely to get the disease than other women. If a specific gene or genes related to endometriosis can be identified, a diagnostic test could be developed to allow health care providers to detect endometriosis earlier, or even prevent it from happening at all.
Additional theories of the cause of endometriosis focus on the female hormone estrogen, which appears to promote the growth of endometriosis; the immune system in either stimulating or reacting to endometriosis, which may affect the body’s natural ability to recognize and destroy the displaced endometrial tissue. Researchers are also focusing on determining whether environmental agents or toxins, which act like hormones in the body and damage the immune system, can cause endometriosis.

Who is at Risk for Having Endometriosis?
Endometriosis is most common in women aged 25-35 years, but it can occur at any time in women who menstruate. Among the factors that have shown to increase your risk of developing endometriosis are:

• More common in white women as compare to African American and Asian women.
• Started your periods at an early age.
• Never giving birth to an infant.
• Having a mother or sister diagnosed with endometriosis.
• Having a monthly menstrual period that is shorter than 27 days with bleeding that is heavier and lasts longer than seven days.
• Having a medical condition that prevents the normal passage of menstrual flow.
• A previous infection that may have caused damage to cells that line the pelvis.
• Chronic pelvic pain.

What are the Signs & Symptoms?
One of the most common symptoms women experience is pain, mostly in the abdomen, lower back and pelvic area.  The amount of pain a woman experiences does not depend on how much endometriosis she has.  Some women have no pain, even though their disease affects large areas.  Others with only a few small growths may experience severe pain.
Other symptoms include:

• Painful menstrual cramps-Pelvic pain and cramping may start before and last for several days into a menstrual period.  The pain with periods may get worse over time.
• Chronic pelvic pain-includes lower back and pelvic pain
• Pain during and after sex
• Heavy menstrual periods
• Painful bowel movements or painful urination during menstrual periods
• Spotting or bleeding between periods
• Intestinal pain or gastrointestinal problems such as diarrhea, constipation or bloating, especially during menstrual periods.
• Infertility-not able to get pregnant
• Fatigue

• Pain Medication-Over the counter pain medications like ibuprofen (Advil or Motrin) or naproxen (Aleve) can help to reduce pain and also reduce menstrual flow.  These medications are called anti-inflammatory drugs or NSAIDs.
• Birth Control Pills-the hormones in them help to keep the menstrual period regular, lighter, and shorter and can relieve the pain.  The pill may be prescribed in a way that prevents you from having monthly periods.
• Gonadotropin-releasing hormone (GnRH)-these hormone drugs suppress estrogen production by the ovaries, causing menstrual periods to cease.
• Progesterone or Progestins-the hormone progestin can be used to shrink endometriosis.  It works against the effects of estrogen on the tissue.  This therapy can reduce or eliminate a monthly menstrual period.
• Danazol-a synthetic drug that stimulates high levels of androgens (male type hormones) and low estrogen levels by interfering with ovulation and ovarian production of estrogen.  This therapy can also reduce pain and cause shrinkage of endometriosis implants.
• Aromatase Inhibitors-work by interrupting local estrogen formation within the endometriosis implants themselves.

• Laparoscopic Surgery-a minimally invasive, camera-guided surgical procedure may be used in an attempt to remove the endometrial tissue outside of the uterus.  The removal of endometriosis tissue is often performed during the surgery when endometriosis is diagnosed.  If the disease is extensive and anatomy is distorted, laparotomy (opening of the abdominal wall with a larger incision) may be required.
• Abdominal Surgery or Laparotomy-can be useful when the symptoms of endometriosis are severe or when there is anatomic distortion of the pelvic organs.  The endometrial growths, scar tissue and adhesions may be removed.
• Hysterectomy-in severe cases a hysterectomy (removal of the uterus) may be the best treatment.   The ovaries and fallopian tubes may also be removed if the endometriosis has severely damaged them and to ensure that the endometriosis will not return.  A hysterectomy should only be considered by women who do not want to become pregnant in the future.

Birth Defects
What are Birth Defects?
What Causes Birth Defects?
What Risk Factors Increase the Chance of Birth Defects?
What are the different Types and Most Common Birth Defects?
How are Birth Defects Diagnosed?
What is the Treatment for Birth Defects?
Can Birth Defects be Prevented?
Will the Birth Defect Occur in Future Pregnancies?


What are Birth Defects?
A birth defect, also called congenital abnormalities, is a problem that happens during pregnancy while the baby is developing. Most birth defects occur during the first 3 months of pregnancy. Birth defects are defined as structural, functional or body metabolism abnormalities that are present at birth. These abnormalities can lead to mental or physical disabilities or can be fatal. They can occur in any major organ and in any part of the body, and can range from minor to severe. One in every 33 babies born in the United States is born each year with birth defects. Several thousand different birth defects have been identified. Birth defects are the leading cause of death in the first year of life. Not all birth defects are detectable at birth. Some might not become apparent until the child is several months older or might remain silent for many years.

What Causes Birth Defects?
Birth defects can be caused by genetic or environmental factors or a combination of the two. For the majority of birth defects, the cause is unknown.
Genetics play a role in some birth defects. Every cell in the body has chromosomes containing genes that determine individual characteristics and direct the growth and development of every part of our physical and biochemical systems. One missing or faulty gene or an extra chromosome or missing part of a chromosome, can cause a birth defect. Each child gets half of its genes from each parent.  An individual can inherit a genetic disease when one parent (who may or may not have the disease) passes along a single faulty gene or when both parents (who do not have the disease) carry an abnormality in the same gene and pass it on to a child. Some genetic diseases are considered sex-linked as they are only passed from a mother who carries the gene (usually with no signs of the disease) to her son, such as hemophilia. Chromosomal abnormalities usually result from an error in the developing egg and sperm cell. As a result, a baby can be born with too many, too few, or with chromosomes that are broken or rearranged. Down syndrome, or Trisomy 21 is an example of a condition caused by too many chromosomes.
Environmental factors that cause birth defects are related to the mother’s health and exposure to chemicals or diseases. Alcohol, certain drugs and medications, infections and certain chemicals, called teratogens, can cause birth defects. Fetal alcohol syndrome is a pattern of mental and physical birth defects that can occur in babies of mothers who drink heavily during pregnancy. Rubella, or German measles is an example of an infection that can cause birth defects if it occurs during early pregnancy.  Accutane, a medication to treat acne, can cause serious birth defects when used during pregnancy.
Multi-factorial birth defects occur by a combination of one or more genes and environmental exposures.  An individual may inherit one or more genes that cause a genetic predisposition to a birth defect if exposed to certain environmental substances. If not exposed to the environmental substance before birth, chances are higher that the birth defect won’t occur. Several birth defects considered to be multi-factorial include: cleft lip/palate, neural tube defects and heart defects.

What Risk Factors Increase the Chance of Birth Defects?
About 3%-5% of babies born in the United States are born with birth defects. Many babies with birth defects are born to couples with no risk factors. However, the risk of birth defects is increased when certain factors are present:

• Maternal age 35 years or older when the baby is due.
• Fathers age 50 years or older when the baby is due.
• A family or personal history of birth defects or genetic disorders.
• If you previously had a child with a birth defect or genetic disorder, you are more likely to have another baby with a similar problem.
• Women who develop diabetes before they become pregnant are three to four times more likely than non-diabetic women to have a baby with at least one birth defect.
• Maternal infections such as rubella, toxoplasmosis, cytomegalovirus or syphilis can cause birth defects in the infants of women who have these infectious diseases during pregnancy.
• Epilepsy increases a woman’s chance of having a baby with birth defects.
• Inadequate intake of folic acid before and during pregnancy increases the risk of neural tube defects in the baby.
• Use of some medications during pregnancy such as thalidomide, valproic acid, warfarin, accutane (isotretinoin) can cause birth defects and should never be used in pregnancy.  
• Maternal chronic conditions such as diabetes, obesity, and hypertension.
• Maternal behaviors such as cigarette smoking and alcohol consumption.
• A pregnant woman who has a serious medical condition may face a greater than normal risk that her child will have a birth defect.
• Exposure to certain chemicals and radiation is dangerous to developing babies.
• African-American couples are most at risk for having a child with sickle cell anemia.
• Couples of Ashkenazi Jewish or French Canadian descent may be carriers of Tay-Sachs disease.  
• Couples who are closely related, such as first cousins increase their risk of having a baby with a birth defect

What are the different Types and Most Common Birth Defects?
There are two main types of birth defects:

• Structural birth defects that are related to a problem with some body part that is either missing or not formed right, such as heart defects, abnormal limbs, neural tube defects, or cleft lip/palate.
• Functional/developmental birth defects are related to a problem with how a body part or body system works.  These can often lead to developmental or mental disabilities.  Functional birth defects include such things as: nervous system or brain problems, sensory problems, and metabolic or degenerative disorders.
Birth defects may be caused by a combination of factors.  Some recognized patterns of birth defects affect many parts or processes, leading to both structural and functional problems.
Common Birth Defects include:
• Heart defects – about one in every 100-200 babies is born with a heart defect.  Heart defects make up about one-third to one-fourth of all birth defects and are the leading cause of birth defect related deaths. The heart defect may be so mild that the baby appears healthy, while others can be so severe that the baby’s life is in immediate danger.
• Neural tube defects - defects of the spine (spina bifida) and brain (anencephaly). They affect about 1 of 1,000 pregnancies. Spina bifida is the most common of the neural tube defects.  Neural tube defects can be serious and are often life threatening. They happen less often than heart defects, but they cause many fetal and infant deaths.
• Orofacial clefts - include cleft lip, cleft palate, and combined cleft lip and cleft palate. Cleft lip is more common than cleft palate. In the United States, orofacial clefts affect about 1 in every 700 to 1,000 babies.  Cleft lip and palate can range in severity from mild with only a small notch in the lip or severe involving a complete opening in the lip and palate.
• Down syndrome – a genetic condition that occurs in children who are born with an extra (third) copy of chromosome 21 in their cells. It involves a group of abnormalities that cause children to have mental retardation, distinctive physical features and often heart and other health problems.  Down syndrome affects between one in every 800-1,000 births.  The chance of having a baby with Down syndrome increases dramatically with the age of the mother; a woman at age 35 has a 1 in 350 chance of having a baby with Down syndrome, and a woman at age 45 has a 1 in 30 chance.

How are Birth Defects Diagnosed?
Some birth defects can be diagnosed before birth using one or more prenatal tests, such as ultrasound, amniocentesis, chorionic villus sampling (CVS) or blood tests.   Prenatal screening can do two major things:  it can help determine if the baby has certain birth defects; and help to determine if the mother has an infection or other conditions that could be dangerous to the baby.  Ultrasound can help detect structural birth defects, such as heart defects and spina bifida.  Amniocentesis and CVS are used to diagnose or rule out chromosomal abnormalities, such as Down syndrome and other genetic birth defects. Most women have blood tests during pregnancy to see if they are at increased risk for certain birth defects, including Down syndrome and spina bifida.  These screening blood tests cannot diagnose a condition, but they can suggest that further diagnostic testing is needed.  Birth defects that may be detected through prenatal screening include:

• Neural tube defects-spina bifida, anencephaly
• Down syndrome
• Other chromosomal abnormalities
• Inherited metabolic disorders
• Congenital heart defects
• Gastrointestinal and kidney malformations
• Cleft lip and palate
• Certain limb abnormalities
• Congenital tumors
Some tests for birth defects are offered to all pregnant women.  Others may be offered if your medical history, or physical exam raises a question about your baby’s health.  Screening tests do not look for all birth defects that could occur.


What is the Treatment for Birth Defects?
Treatment of the birth defect depends on the type of birth defect and how severe it is. Some birth defects require immediate medical and/or surgical treatment, others may require minimal or no treatment, while some are incompatible with life and the baby may die shortly after birth.
A small percentage of birth defects can be treated before birth while the baby is still in the womb. Prenatal surgery has saved babies with certain birth defects like urinary blockage and lung tumors. Some babies with a serious heart rhythm disturbance have been treated by giving the mother medications that cross over to the baby to treat the condition.
When a birth defect is diagnosed, and no prenatal treatment is yet possible, prenatal diagnosis permits the parents to prepare themselves, and talk to their health care provider about their options.


Can Birth Defects be Prevented?
Not all birth defects can be prevented. Many birth defects happen very early in pregnancy, sometimes before a woman even knows she is pregnant. There are some important steps a woman can be taken before and during pregnancy to help reduce her risk of having a baby with a birth defect.

• Preconception visit with your health care provider. During this visit, the provider can identify, and often treat, health conditions that may pose a risk in pregnancy, such as diabetes or high blood pressure. Advice can be provided on lifestyle factors, such as quitting smoking and avoiding alcohol, occupational exposures and medications that can pose pregnancy risks. Risk factors for birth defects can be identified through a complete health and family history. If risk factors are identified, a referral to a genetic counselor may be advised.
• Make sure your vaccinations are up to date and you don’t have any sexually transmitted diseases.
• Daily intake of a multivitamin containing 400 micrograms of the B-vitamin folic acid. Studies show that taking this vitamin before and during early pregnancy reduces the risk of having a baby with a neural tube defect.
• Avoid drinking alcohol, smoking and using drugs. All of these can cause birth defects and other pregnancy complications.
• Avoid taking any medication (prescription, herbal, or over-the-counter) before consulting your health care provider.
• To prevent the possibility of an infection called toxoplasmosis, avoid changing the cat’s liter box or eating raw or undercooked meat.
• Avoid exposure to lead or other toxic agents and avoid certain fish that have high levels of mercury (shark, swordfish, king mackerel, or tilefish). Other types of fish should be limited to 12 ounces per week, and albacore tuna and tuna steaks limited to 6 ounces per week.
• Eat a healthy diet and get regular exercise and plenty of rest.
• Get early and regular prenatal care.

Will the Birth Defect Occur in Future Pregnancies?
If you or your partner has a history of any kind of birth defect in your family, if you have already had a child with a birth defect, or if you are part of a high-risk group (because of your age, ethic background, or medical history), consider consulting a genetic counselor before you get pregnant again. More is being learned about genetics and the factors involved in birth defects all the time. Genetic testing and gene therapy are becoming increasingly useful aspects of prepregnancy planning and pregnancy. A genetic counselor can give you advice about genetic testing and discuss the risks of the birth defect occurring with subsequent pregnancies.