A common breastfeeding problem: mastitis Bringing home a new baby is an exciting and life-changing experience. As you adjust to feeding schedules, sleep deprivation, and postpartum recovery, it's important to pay attention to your own health as well. One common breastfeeding challenge that many new mothers experience is mastitis —an inflammation of the breast tissue that can become painful and may require medical treatment. At Alliance OB/GYN, we're here to support you through every stage of your postpartum journey. Knowing the signs of mastitis and seeking care early can help you recover quickly and continue breastfeeding comfortably. What is mastitis? Mastitis is an inflammation of the breast tissue that most commonly occurs during the first several weeks after giving birth, although it can develop at any time while breastfeeding. It often begins when milk becomes trapped in the breast due to a clogged milk duct. If bacteria enter through a cracked or damaged nipple, an infection can develop. Mastitis typically affects one breast but can occasionally occur in both.

Ovarian cysts versus ovarian cancer Many women go to their doctor’s office or the emergency room for pelvic pain. Typically, an ultrasound is obtained and sometimes an ovarian cyst is found. This can be worrisome for women and can cause significant emotional distress. Most cysts on the ovary are benign (non-cancerous) and are referred to as “functional cysts”. These are cysts which naturally occur during a women’s menstrual cycle and typically self-resolve without any needed intervention. Other cysts are solid tumors or “complex” cysts (both solid and cystic) and are typically benign as well. These include endometriomas, dermoids, and adenomas. Rarely, however, an ovarian cyst/tumor is cancer. A woman's lifetime risk of developing ovarian cancer is 1 in 70, or 1.3%. Annually, it is estimated that 22,280 women in the United States will be diagnosed with ovarian cancer and 14,240 of them will die. Ovarian cancer is the deadliest female cancer in the United States. The reason for this is a delay in diagnosis. What types of ovarian cancer exist? There are many types of ovarian cancer, but they all can be classified in one of three classes: epithelial, sex-cord stromal, and germ cell. Epithelial cancers develop on the outer of tissue on the ovaries. They account for 90% of all ovarian cancers. The specific types include: serous mucinous clear cell papillary endometrioid Brenner Sex-cord stromal cancers grow in the hormone-producing cells in the ovary. They represent 7% of ovarian cancers. They include: granulosa cell tumors Sertoli-Leydig tumors fibrosarcomas Germ cell cancers grow in the egg-producing cells. They are very rare (3 of all ovarian cancers). They include: dysgerminomas yolk sack tumors endodermal sinus tumors embryonal carcinoma choriocarcinoma teratomas

What is the umbilical cord? The umbilical cord consists of two arteries and a vein surrounded by protective tissue. It is attached to the fetus at the umbilicus (bellybutton). The other end embeds itself into the placenta which is attached to the wall of the mother’s uterus. This unit facilitates the transfer of nutrients and oxygen from mother to the developing child and waste products like carbon dioxide from fetus to the mother for elimination. This exchange occurs via diffusion (the passage of molecules or substances across a cell membrane) without blood from the mother and fetus ever mixing. What types of umbilical cord problems can occur during pregnancy? There are a variety of umbilical cord problems which can occur during pregnancy. These include: structural defects (abnormal cord length, single umbilical artery abnormal insertion (marginal cord insertion, velamentous cord insertion) location problems (vasa previa, funic presentation) entanglement issues (nuchal cord, true knot) What is an abnormal umbilical cord length? The length of an umbilical cord is very important to the health and well-being of a developing fetus. Cords that are too short or too long can cause problems. On average, the umbilical cord should be approximately 32cm long at 20 weeks gestation. From that point forward, it should grow at a steady rate and reach a final length of 60cm by 40 weeks gestation. There is some variation in length depending on the height, size, and weight of the mother. Short umbilical cords have been associated with various issues including lack of oxygen and nutrients, placental abruption, decreased fetal movement, fetal distress, low APGAR scores, low birth weight, and psychomotor abnormalities. There is also an increased risk of cesarean delivery for failure to descend during the second stage (pushing) of labor. If the umbilical cord is too long, it can lead to other complications, particularly during delivery. Long cords are more likely to result in emergency events such as fetal entanglement, cord prolapse, and a cord knot. All of these events can deprive the baby of oxygen and result in serious brain injuries. What is a single umbilical artery? A single umbilical artery occurs when an umbilical cord contains only one artery and one vein rather than two arteries and one vein. Found in 0.5%–6% of pregnancies, this "two-vessel cord" often results in normal, healthy babies but can be associated with fetal growth restriction or congenital anomalies.

What is amenorrhea? Amenorrhea refers to the absence of menstrual periods. It is classified into two main types: Primary amenorrhea: When menstruation has not started by age 15 in girls with otherwise normal growth and secondary sexual characteristics, or by age 13 if there are no signs of puberty. Secondary amenorrhea: When a woman who previously had regular cycles stops having periods for three or more months (six months if her cycles were previously irregular). While missing one or two periods is not uncommon, persistent absence of menstruation deserves medical evaluation. How does the menstrual cycle work? To understand amenorrhea, it helps to review how a normal menstrual cycle works. Each month, a complex interaction between the hypothalamus, pituitary gland, and ovaries regulates hormones such as FSH (follicle-stimulating hormone), LH (luteinizing hormone), estrogen, and progesterone. These hormones control the maturation of eggs, ovulation, and the thickening/shedding of the uterine lining. If any part of this hormonal system is disrupted, ovulation and menstruation may not occur. What are the different causes of amenorrhea? Amenorrhea can result from a wide range of physiological, structural, and hormonal factors. 1. Physiological Causes Pregnancy: the most common and natural cause of amenorrhea Lactation: breastfeeding suppresses ovulation through high prolactin levels Menopause: permanent cessation of ovarian function, typically at age 51 2. Hypothalamic or Pituitary Causes Hypothalamic amenorrhea: disruption in the hormonal center of the brain often due to stress, weight loss, excessive exercise, or eating disorders Pituitary tumors: typically benign but suppresses hormone signals to the ovaries Thyroid disorders: both hypothyroidism and hyperthyroidism can disrupt menstrual cycles 3. Ovarian Causes Premature ovarian insufficiency: depletion of ovarian follicles before age 40 Polycystic ovary syndrome (PCOS): characterized by irregular ovulation, androgen excess, and polycystic ovaries Genetic or chromosomal abnormalities: Turner syndrome (45,XO), Fragile X premutation carriers 4. Uterine and Outflow Tract Causes Asherman’s syndrome: scarring inside the uterus, often from prior surgeries or infections Congenital anomalies: absence or malformation of the uterus, cervix, or vagina (Müllerian agenesis) 5. Medications and Systemic Illnesses Medications: hormonal contraceptives, antipsychotics, or chemotherapy agents Chronic illnesses: diabetes or celiac disease How is amenorrhea diagnosed? Evaluation begins with a comprehensive medical history and physical examination, followed by targeted laboratory and imaging studies. Step 1: Exclude Pregnancy A urine or serum β-hCG test should always be the first step. Step 2: Hormonal Evaluation FSH and LH: elevated levels suggest ovarian failure; low levels indicate hypothalamic or pituitary dysfunction Prolactin: elevated in prolactin-secreting tumors or medication effects. TSH: evaluates for thyroid dysfunction Estradiol: assesses estrogen status and ovarian function Androgens: elevated levels can indicate PCOS or adrenal disorders Step 3: Imaging Pelvic ultrasound: evaluates uterus and ovaries for structural abnormalities or polycystic morphology MRI of the pituitary: ordered if prolactin is elevated or pituitary disease is suspected Step 4: Additional Tests Progestin challenge test: determines if estrogen is present and if outflow tract is patent Karyotype testing: used in primary amenorrhea to detect chromosomal abnormalities How is amenorrhea treated? Treatment depends on the underlying cause and the patient's reproductive goals. Lifestyle and Functional Causes Nutritional rehabilitation: increase caloric intake and restore healthy body weight Stress management: mindfulness, therapy, or reduced physical strain Exercise moderation: adjust intensity and duration to restore hormonal balance Hormonal Disorders PCOS: managed with hormonal contraceptives to regulate cycles, or ovulation induction if fertility desired Hyperprolactinemia: treated with dopamine agonists such as cabergoline or bromocriptine Thyroid disorders: treated by correcting thyroid hormone levels Ovarian Insufficiency Hormone replacement therapy (HRT): helps protect bone density and relieve symptoms related to estrogen deficiency Structural Causes Surgical correction: In cases such as Asherman’s syndrome, hysteroscopic removal of adhesions can restore menstruation Congenital anomalies: May require reconstructive surgery or counseling regarding reproductive options What are the potential complications of untreated amenorrhea? Chronic absence of menstruation can have long-term health consequences including: infertility due to anovulation osteoporosis if prolonged hypoestrogenism cardiovascular risks associated with hormonal imbalance endometrial hyperplasia if unopposed estrogen is present without regular shedding My period has stopped. Should I see my doctor? You should seek medical evaluation if: you have not started menstruating by age 15 your periods stop for more than 3 months (and you’re not pregnant) you experience symptoms such as hot flashes, hair loss, nipple discharge, or headaches you have a history of significant weight changes, stress, or excessive exercise Key Takeaways Amenorrhea is not a disease itself but a symptom of an underlying condition. While it is sometimes a normal physiological occurrence (such as during pregnancy or menopause) amenorrhea can also signal underlying medical or hormonal issues that need evaluation. Identifying the cause requires careful evaluation of hormonal, structural, and lifestyle factors. The good news is that many causes are treatable, and menstrual cycles can often be restored with appropriate care. For women who are not menstruating, timely medical attention can safeguard reproductive health, bone strength, and overall well-being.

What is "normal"? The average period comes every 28-30 days, lasts 3-6 days, and typically has 1-2 heavier flow days then tapers off. Every woman is different and blood flow pattern can change over time. Typically, earlier on in the adolescent and teenage years, periods can be heavier and last longer. Over time, this should lessen. But in many women, heavy menstrual bleeding continues throughout the reproductive years. While this is a common experience, heavy menstrual bleeding warrants a visit to your doctor, preferably a gynecologist. What is heavy menstrual bleeding? The medical term for heavy menstrual bleeding is “menorrhagia”. Typically, it is recognized by taking note of how often you change a pad or tampon. If your flow causes you to need to change pads/tampons more than every 1-2 hours, you are soaking through your clothes, you require more than one pad at a time, or you bleed through even an extra-long or super absorbency product overnight, you are experiencing heavy menstrual bleeding. Also, if your periods last more than 7 days, you have heavy menstrual bleeding. What causes heavy menstrual bleeding? The list of potential causes of heavy menstrual bleeding is long. M ost are benign (non-cancerous) reasons such as ovulatory dysfunction from hormonal abnormalities, uterine fibroids or polyps, adenomyosis, infection, or bleeding disorders. Ovulatory Dysfunction Ovulatory dysfunction occurs when a woman does not ovulate (release an egg) regularly each month. This leads to thickening of the lining of the uterus and heavy periods when bleeding does occur. Ovulatory dysfunction is most common during adolescence when periods first start or perimenopause when periods are stopping. It can also occur with certain medical conditions such as hypothyroidism and polycystic ovarian syndrome (PCOS). Uterine Fibroids Fibroids are benign growths which develop within the muscle, inside, or on the surface of the uterus. They are most common in African American and Latino women. The exact cause of fibroids is unknown. They can range in number and size and affect different women differently. For example, small fibroids (less than 3 centimeters) are typically asymptomatic and many women do not even know they have them. Contrastingly, in some women, fibroids grow very large (10 centimeters or greater) or many are present, and they cause symptoms such as heavy periods, bloating, painful sex, infertility, and even bladder/bowel problems. While fibroids are not dangerous, they can be quite bothersome. They grow in the presence of estrogen and thus can increase in size during the reproductive years and pregnancy and typically shrink after menopause. They are typically diagnosed by ultrasound.

Understanding the APGAR score When a baby is born, one of the very first things the healthcare team does—often within moments of delivery—is perform an APGAR assessment. Though it happens quickly and quietly, this simple test provides critical information about a newborn’s health and helps determine whether any immediate medical care is needed. The APGAR score has been a cornerstone of neonatal assessment for decades, yet many new parents are only vaguely familiar with what it means. Let’s take a closer look at the history, purpose, and meaning behind this essential newborn evaluation. What is the origin of the APGAR score? The APGAR score was developed in 1952 by Dr. Virginia Apgar. Dr. Apgar worked in obstetrics and noticed that there wasn’t a consistent way to evaluate how well newborns were doing immediately after birth. She designed a simple, standardized system that could be performed quickly by any member of the delivery team. Her method was so effective that it became universally adopted—and today, it remains one of the most important tools in neonatal care. Interestingly, the word “APGAR” not only honors Dr. Apgar’s name but also serves as a convenient mnemonic for the five key areas assessed: A – Appearance (skin color) P – Pulse (heart rate) G – Grimace (reflex irritability) A – Activity (muscle tone) R – Respiration (breathing effort) When and how is the APGAR score performed? The APGAR assessment is conducted twice after birth—once at 1 minute and again at 5 minutes of life. The 1-minute score evaluates how the baby tolerated the birthing process. The 5-minute score shows how the baby is adapting to life outside the womb. In some cases, if the score remains low at 5 minutes, healthcare providers may repeat it every 5 minutes up to 20 minutes to monitor progress. Each of the five components is assigned a score from 0 to 2, with 2 being the best possible. The total maximum score is 10.

What is Polycystic Ovarian Syndrome (PCOS)? PCOS is a common condition which affects women of all reproductive ages. It typically is associated with multiple symptoms including: irregular bleeding heavy and prolonged bleeding risk of uterine cancer infertility unwanted hair growth obesity / difficulty losing weight What is normal? Women have a uterus, 2 fallopian tubes, and 2 ovaries. The average woman has a 28-day menstrual cycle. Every month, a woman’s brain sends hormonal signals to the ovaries to produce different hormones at different times. The first half of the menstrual cycle is dominated by the hormone estrogen. It has effects on both the uterus & the ovaries. In the uterus, it will help the lining to grow thick in preparation of getting pregnant and having a soft place for the baby to implant. In the ovary, estrogen is responsible for telling multiple eggs every month to prepare themselves. These microscopic eggs will start to swell and when that happens, we call them follicles. One will become the winner also known as the “dominant follicle”. Around day 14 of the menstrual cycle, this dominant follicle will rupture, releasing the egg into the fallopian tube then the uterus. If you are sexually active and time intercourse appropriately, the egg can fertilize, and you can become pregnant. If you are not sexually active, the egg will continue through the uterus and exit a woman’s body. At the time of ovulation, a different signal from the brain tells the ovary to start making the hormone progesterone, which is the dominant chemical in the second half of the menstrual cycle. Progesterone will tell the lining of the uterus that it is no longer needed and will trigger shedding which we call a “period”. Progesterone also tells the ovaries that the remaining follicles are no longer needed, and they dissolve. What happens in patients with PCOS? In a patient with PCOS, for multiple reasons, hormones and chemicals are “off” and while many eggs may start preparing themselves and turn into follicles, they never grow to any significant size and one does not become dominant or ovulate. If a woman doesn’t ovulate, she will not trigger progesterone and will not have shedding or bleeding. Essentially, women with PCOS are always in the first half of the menstrual cycle. They make many follicles, and the lining of the uterus grows thicker and thicker. But ovulation and menstruation do not occur. Eventually, the lining of the uterus becomes so thick that the body cannot hold onto it anymore. It will decide to release part of this tissue at random times. Not all of the lining will release at the same time. This is what is responsible for irregular vaginal bleeding. And because there’s so much extra tissue in there from months and months of accumulation, the bleeding is often quite heavy and prolonged… sometimes lasting more than 10 days or even two weeks. Most women with PCOS incorrectly believe that this is a “period”. This bleeding however is not a period, since ovulation did not occur. Instead, we refer to this as “withdrawal bleeding”. This irregular and heavy bleeding is more than just an inconvenience. While PCOS does not have any immediate dangers, there are some long-term consequences associated with it. What are the risks of PCOS? Whenever there is tissue growth, there is always a chance that a “bad cell” appears. Typically, in women having regular periods once per month, the lining of the uterus sheds so frequently that any potential bad cells exit the body before causing problems. In women with PCOS however, the uterus does not shed each month. Thus, if there is a bad cell present, it can be retained for months or even years. Overtime, that cell can turn into a pre-cancer and eventually a cancer. So, patients with PCOS are at increased risk of uterine cancer. But there is no reason to panic! There are ways to treat PCOS by regulating your hormones and having bleeds each month. We achieve this by using birth control, most commonly pills. This will help your body have the appropriate amounts of both estrogen and progesterone at the right times each month and allow you to have regular withdrawal bleeds. Many women with PCOS like not having a period, and if you’re one of them don’t worry! There is a way to help regulate your hormones and prevent the lining from growing too thick and causing a cancer, without having to bleed each month. We can do this within an intrauterine device (IUD). This is a small T-shaped device that is placed inside the uterus. While your body is naturally making estrogen each day, the IUD releases a small amount of progesterone each day in the uterus. This prevents the lining from growing thick and placing you at risk. By not allowing the lightning to grow, the IUD essentially stops you from having periods. While this device is typically used to prevent pregnancy, it is a wonderful option for women who have heavy periods or at risk of uterine cancer. Another complication of PCOS the patient often visits her gynecologist for is “infertility”. Yes, it’s true that you cannot get pregnant if you’re not ovulating, but the ovary of a woman with PCOS contains multiple immature follicles. That is where the name polycystic ovarian syndrome comes from. All we need to do is help those follicles to grow and have one rupture and that is ovulation! So PCOS patients have fertility options. There are medications and treatments available that can achieve this goal. So if you have PCOS, have been trying to get pregnant, and haven’t been successful, please visit your OB/GYN and they can help. Women with PCOS often have unwanted hair growth which is related to the abnormal hormones and slightly higher level of testosterone. There are many ways to treat this without having to undergo painful plucking, waxing, or laser treatments. Typically, birth control pills, which will help regulate your cycle and prevent uterine cancer, will also lower your testosterone and reverse unwanted hair growth. Finally, patients with PCOS typically suffer from obesity and experience difficulty losing weight. There are complex chemical abnormalities in patients with PCOS, including sugar and insulin imbalances similar to pre-diabetes. This is what helps you gain weight and makes it difficult to lose weight. There are wonderful protocols in existence which can help your metabolism get back on track. In fact, when used correctly, these medications can help with weight loss! In women with PCOS, losing 5 to 10% body weight typically will correct hormone levels and restore the normal menstrual cycle, ovulation, and bleeding. What should you do now? If you believe that you have PCOS, please reach out to your OB/GYN… because they can help you feel better and keep you safe!

How is my due date calculated? Your due date is set as the date that you will be 40 weeks pregnant. Initially, it is based on the first date of your last menstrual period. Some women have irregular cycles, do not know when their last period was, or have fluctuations in their cycle length. To ensure the correct due date, an initial ultrasound will be performed which will confirm or change your date. Will my due date ever change? Once your first ultrasound is performed, your due date will be set and this will not change. The earliest ultrasound is the most accurate so any subsequent ultrasounds will not alter your due date. However, there may be circumstances where certain medical conditions require delivery to occur at an earlier date. While that may be planned for you based on your individual situation, your “due date” will not change. (For example, repeat c-sections are typically performed at 39 weeks.) Can I have my baby on a specific date? While many people want to have (or avoid having) their baby on a certain date, in an effort to prevent complications to babies born prior to full term (39 weeks), hospital and medical governance boards have strict policies on timing of delivery. The American College of Obstetricians & Gynecologists (ACOG) provides guidelines regarding the timing of delivery. Elective (non-medical) deliveries prior to 39 weeks are not supported. Elective deliveries at or beyond 39 weeks are typically evaluated on a case-by-case basis and in accordance with hospital requirements. How many ultrasounds will I have? The American College of Obstetricians & Gynecologists (ACOG) recommends only one to two ultrasounds in pregnancy, however most OBGYNs will perform three. The first is typically done between 6 and 8 weeks to confirm that the pregnancy is inside the uterus, verify a heartbeat is present, and establish a due date. A second ultrasound is typically performed at 12 weeks to evaluate the nuchal translucency (NT) which is part of genetic screening as an increased thickness in the back of the baby’s neck may be associated with genetic abnormalities. A third ultrasound is performed around 20 weeks to look closely at the anatomy of the baby and ensure that it is normal. Additional ultrasounds may be recommended for certain medical problems or fetal growth concerns as necessary. Routine use of ultrasound for entertainment is not recommended by ACOG. When can I find out the gender? One of the most exciting parts of pregnancy is finding out if you are having a boy or a girl and planning on their arrival. Shopping for clothes, choosing baby items, and decorating a nursery are all part of the fun on welcoming a new member of your family. Some patients choose not to know the gender and wait for the “surprise” at delivery; others want to know as soon as they find out they are pregnant! Traditionally, the only way to determine gender was at the time of your 20-week anatomy ultrasound. This is still the standard way to find out what you are having. There are certain instances, however, where it may be recommended that patients have genetic testing performed on their pregnancy. Genetic testing will include an analysis of the sex chromosomes and as a result the gender will be known to your physician and can be shared.

Is my baby at risk? While most babies are born healthy, approximately 3-5% of babies are born with a birth defect. Some of these defects are caused by or associated with genetic disorders or syndromes. Some pregnancies are at increased risk of these birth defects or genetic disorders. These include mothers over the age of 35 at the time of delivery, a personal or family history of a birth defect or genetic disorder, and various other situations. What causes birth defects? Genetic disorders are caused by changes in a person’s genes or chromosomes. These changes are known as “mutations”. Aneuploidy is a condition where the chromosomes are off in number. If a chromosome is missing, it is known as monosomy; if there is an extra chromosome, it is referred to as trisomy. Trisomy 21 (or Downs Syndrome) is one of the most known aneuploidy conditions. Is genetic testing available for my baby? Historically, the only way to determine if a baby was at risk of genetic abnormalities was based on certain findings (known as “markers”) seen on the 20-week anatomy ultrasound. By this point in time, parents who were given bad news were faced with limited options as state termination laws generally prohibit ending a pregnancy beyond 20-24 weeks. Modern medicine recognized this problem and worked to develop testing methods which were more accurate and performed sooner, affording parents more time to decide what course of action was best to take given their individual situation. Various types of genetic testing have been developed including both screening tests and diagnostic tests. These can identify genetic abnormalities only, not structural abnormalities. What is a prenatal screening test? Prenatal screening tests can tell you the chances that your baby has an aneuploidy; it does not confirm a diagnosis and it may include false-positive (a positive result when the baby is actually normal) or false-negative (a negative result when the baby is actually affected) results. It includes lab tests performed during the 1st and/or 2nd trimester (depending on which test is used) and ultrasounds performed at 12 weeks and 20 weeks. The most accurate test is called cell-free DNA testing. It is a non-invasive prenatal test where genetic analysis is performed on some of the baby’s cells which are floating in mom’s blood. This test was designed for high risk patients but may be offered to all. There may be a cost associated with these tests. If positive results are encountered, patients will then be referred to have diagnostic testing performed to confirm the results. What is a prenatal diagnostic test? Prenatal diagnostic tests can tell you whether or not your baby actually has a genetic abnormality. These tests are done on cells from the placenta (chorionic villus sampling) or the amniotic fluid (amniocentesis). Chorionic villus sampling (CVS) is a diagnostic test performed during the first trimester (between 10-13 weeks of pregnancy) to determine whether or not a baby has a normal number of chromosomes. CVS is performed by inserting a core needle through a mother’s abdomen, into the uterus, and removing a small piece of the placenta. This tissue is analyzed in a laboratory and genetic testing is performed. The risk of miscarriage after CVS is approximately 1 in 250. Amniocentesis is a diagnostic test to determine whether or not a baby has a normal number of chromosomes. It is typically performed during the second trimester (between 15-18 weeks of pregnancy) but can be performed all the way up to the time of birth. An amniocentesis is performed by inserting a very thin needle through a mother’s abdomen, into the uterus, and withdrawing a small amount of amniotic fluid. Floating in that fluid are some of the baby’s cells that have naturally fallen off. These cells are then used by the laboratory for genetic testing. The risk of miscarriage after an amniocentesis is 1 in 1000. What is carrier screening? While prenatal genetic testing is concerned with the genes of the baby, carrier screening analyzes the genes of the mother and/or father to determine whether or not they have any unknown genetic abnormalities which can pass to their child and cause a disorder. Normal humans have two copies of every gene. For certain genetic disorders to occur, a person with that disorder must have two damaged copies of the same gene. As long as a person has at least one working copy of the gene, he or she is normally healthy and usually has no signs or symptoms of the genetic disorder. People who have one working copy and one damaged copy are called “carriers”. It is estimated that we all “carry” at least 8-10 of these damaged genes in our DNA. While having only one damaged gene doesn’t matter to us, if we have children with someone who also carries a damaged copy of the same gene, these children are at increased risk for having the genetic disorder. Who can have carrier screening performed? Carrier screening is offered to all people who are pregnant or planning on becoming pregnant. Because people of certain ethnicities are more likely to be carriers of certain disorders, most carrier screening is offered based on the ethnicity of you and the father of the baby. Some of the common genetic disorders screened for are cystic fibrosis (CF), fragile X, spinal muscular atrophy, (SMA), sickle cell anemia, and Tay Sachs disease. There are often no cures or treatments for these disorders. A baby can only be affected if both parents are carriers, and even then, it is only a 25% risk the child will be affected. How is carrier screening performed? Carrier screening is done through a blood test on the female partner first. If the test result shows that the female partner is not a carrier, then no additional testing is needed. If the test result is positive, then the father of the baby is tested. The results of a carrier screen do not change from pregnancy to pregnancy and therefore mothers only need to be tested once. (This is in contrast to genetic testing which is baby-specific to each pregnancy). Should I have testing in my pregnancy? It is a personal decision on whether or not to have genetic testing or carrier screening. Your individual beliefs and values are important factors in this decision. Some women make these decisions based on whether or not the results would change their plans to continue the pregnancy. Others choose to have testing while planning to continue their pregnancy no matter what, because they want time to possibly prepare for having a baby with a genetic disorder. Some want testing as reassurance on the likely positive outcome. Other parents do not want to know any information before the child is born and decide not to have testing at all. Financial considerations and support resources may also influence a family’s decision on whether or not to have testing performed. There is no right or wrong answer. Certain tests can only be done at certain times in pregnancy and tests performed earlier allow parents more time to make decisions if a result is positive. If ending the pregnancy would be considered, it is safest to do so within the first 13 weeks of pregnancy.