Ask the Midwife : Genetic Tests
Ask the Midwife
Question:
I am 8 weeks pregnant with my first baby and just had my new OB visit. I am confused about genetic tests that are offered. Are these required? What do you recommend? How accurate are they? What is the difference between a screening test and a diagnostic test? Will my insurance cover this type testing?
Answer:
Congratulations on your pregnancy! It is our goal that you feel informed about all of your options during your pregnancy and have the confidence to make the right choices for yourself and your baby. Unlike the basic blood tests that we ask you to get during pregnancy so we can take the best care of you, the genetic tests are not required. We can give you information and guidance but we do not make specific recommendations, as whether or not to have genetic testing is a very personal choice.
Genetic tests come in two different categories: screening tests and diagnostic tests.
Screening tests can tell you if there is a chance that your baby is affected by specific disorders but not whether it is certain. If a test comes back indicating that there is a higher chance of a problem, further testing must be done to verify whether or not there is actually a problem. Screening tests have different rates of false positive results, depending on the test. Diagnostic tests tell you for sure whether your baby is affected. Diagnostic tests are not generally the first line test done, as they are invasive (small chance of miscarriage) and expensive. Screening tests do not have the potential to cause harm to the pregnancy.
Since you are still early in your pregnancy, you have many options to choose from. One option is the NIPS Cell Free DNA test. This is a blood test, so you would have your blood drawn for this. It can be done after 10 weeks and tests for Down syndrome, Trisomy 18, Trisomy 13, sex chromosome abnormalities, and can determine fetal sex. This is a screening test, and has a detection rate of 98-99%. If there is a positive result, further testing (ultrasound or invasive testing) would be required to be sure of the diagnosis. This test is not likely to be covered by insurance. Those on Medicaid can apply for a reduced rate of $149 for the test; others will pay $249 unless they are determined to be high risk in which case higher costs could be incurred.
Another option for genetic screening is Maternal Serum Screening. This can be done in two ways. The first option is to have a special ultrasound at 11-13 weeks to check for thickening on the back of the baby’s neck, and then follow up with a blood test. This screens for Down syndrome, Trisomy 18 and spinal cord defects. This special ultrasound requires a trip to the maternal fetal medicine specialists. The detection rate is 80-90% and most insurances will cover this, but you of course have to check with your particular insurance. The second way of doing a Maternal Serum Screen is through a blood test at 15-21 weeks of pregnancy. This test is called MSAFP-4 and can be ordered by your midwife or OB physician. This test screens for the same disorders but has a slightly lower detection rate. There is a false positive rate of 6.6% with this test (indicating there could be a problem when there is not). As with other screening tests, if there is a positive result, high tech ultrasound and/or invasive screening would be needed. Most insurances will cover MSAFP-4.
Carrier screening will also be offered to you. This type test does not test the baby. It tests the mother to see whether or not she carries certain diseases. This can include Cystic Fibrosis, Spinal Muscular Atrophy, Fragile X Syndrome, Sickle Cell Anemia and Thalassemia. Often these tests are indicated based on ethnicity. People of certain ethnic backgrounds have a higher incidence of some inherited disorders. If a woman is determined to be a carrier, the father of the baby would need to be tested as well to determine the risk to the baby. There could be a referral to a specialist for counseling in this case. Insurance may or may not cover this type testing; check with your insurance company.
Finally, diagnostic testing is usually done as a follow up to screening tests, to verify whether there is actually a problem, but may be offered to certain women as first line testing based on risk factors.
This type testing is invasive and there is a small risk of miscarriage. Amniocentesis is a test that is done from 15 weeks on and involves removing some amniotic fluid from the uterus and testing the fetal chromosomes. There is a risk of 0.3-0.5% of miscarriage from this procedure.
Chorionic Villus Sampling (CVS) is done between 11 and 14 weeks and involves taking a sample of placenta and then looking at the chromosomes for possible abnormalities. The risk of miscarriage is slightly higher with CVS, at 0.5 to 1%. This test can tell you definitively if there is a problem.
However, keep in mind that genetic screening and diagnostic tests do not test for all disorders. Heart defects, limb abnormalities, cleft palate and autism are all examples of conditions that cannot be diagnosed by genetic testing. Ultrasound can often but not always diagnose fetal malformations. Insurance may or may not cover this type of testing.
The question of whether to have genetic screening and/or diagnostic testing done is a very personal one. It is important to think about your options and what you feel comfortable with, as well as considering what you would do with the information you receive from the testing. There are women who want to have every test available. Some women feel that they want the testing so they can be prepared if there is a problem. Some women would choose not to carry a baby with a severe disorder. There is also the chance that getting a false positive result could cause anxiety throughout the pregnancy and make the pregnancy less enjoyable. Some women decline testing altogether. If you have risk factors for specific disorders you may be encouraged to have testing but ultimately the decision is yours.
Infant Massage – The Amazing Benefits of Giving and Receiving
You may have heard about the common benefits of infant massage. It helps babies with gas and colic and it helps calm them down from crying and to sleep. But before we talk about specific benefits of infant massage, there is one guiding benefit which is the foundation for everything else. Infant touch and massage helps a baby’s brain to grow.
Babies are born still needing to make finishing work of their brains. At birth, they have only 25% of their ultimate finished size of their brains. Babies operate out of their primitive brain and need the help of their caregivers to regulate their emotions. As humans grow, we develop our rational thinking brain and this helps us solve problems and cope with stress. How a little human learns and develops connections in their nervous system towards this goal is through their caregivers’ responsiveness to them, through emotions.
It is not always easy to be the adult in the room when our baby is crying. We have our own stresses in life. However, if we can remember that we are the one with a more developed brain, we can help our little ones. There are many nonverbal ways we communicate with our babies like cooing, picking up and moving with, and giving general loving attention. Touch, though, is a powerful communicator. It is the first sense we develop and the last sense we lose in life.
Intentional and loving touch in the form of massage brings us in tune with our babies, and with the help of the chemicals produced by our brains, helps make sure that we are in a caring mode. Even the mother who is affected by depression can come into alignment with their baby just by going through the process of massaging her baby. Those in the father role who may not be the ones feeding their baby, can tune in very easily through this special time set aside for touch. Infant massage has been known to help adults feel more in synch with their babies because in the process of touch and massage, we are reading baby’s cues, connecting through the eyes and through the skin.
Babies do experience stress. The practice of infant touch and massage can help in the moment, but it also can lay down the networks in their brain to be able to soothe themselves, which is something every parent can get excited about. Infants can learn to help calm themselves through their own experience. If they have been exposed to lowered levels of stress hormones through whatever means then they are less likely to have a fight or flight response to emotions both now and in their future. A flip side of stress is FUN. Infant massage can be a wonderful opportunity to be playful, sing and babble, talk, gaze into their eyes, and bring joy to ourselves as well.
So, what else can touch and massage do for babies? Beyond the attunement and brain development benefit we just learned about, there is a long list of good things we know about massage, both for the infant and for the growing child. One of the most common benefits of infant massage talked about is in making the digestive system work better. There are so many nerves in our gut. Not only can massage to the belly move gas and help baby digest food more comfortably, but massage to any area of the body can send calming signals to the digestive system to move food through with less gas and constipation. Parents with babies prone to colic and the inconsolable crying are often the most common group to adopt the practice of infant massage. Premature babies who receive touch and gentle massage are known to gain weight significantly better than those who do not receive it. This is one of the most medically important benefits known for infant massage.
Many parents also talk about how helpful massage is for reducing teething pain and for relieving sinus congestion, using special strokes on the face. In addition, massage of any muscles helps not only the body area being touched but also helps improve blood circulation and the movement of our bodies natural clearing of lymph or waste products. When babies start using their muscles more in being mobile, massage can help relax in a way that promotes better sleep above and beyond the ordinary way that massage provides for that.
One of the more fascinating aspects of how massage can boost a baby’s brain power is that the touch they receive with loving attention leads to a baby being more aware of him or herself; it helps them in orienting to the space around them. Early on in life, touch tells the brain, “this is my leg; it belongs to me.” This helps with coordination and later, boundaries. It helps with integrating the information that comes through the senses. This is one reason why a variety of therapists who work with children with disabilities have infant massage as one of their best tools to teach parents and caregivers.
There are clear benefits for the one giving the massage as well. In addition to the strong bonding that develops between you and baby when you spend this time of loving attention together, there is also the benefit of reducing stress. By becoming more comfortable in reading your baby’s cues through touch and massage, you may grow to feel more confident in your ability to parent. For those parents who are separated from their baby for periods of time, the practice of touch and massage can offer a special way to connect deeply. This way of communicating without words can grow in the parent/caregiver relationship into the future. Even if a parent was separated from their baby initially at birth and had times of continued separation, massage can help make up for lost time.
Infant massage is simple to learn and does not have to be a complicated thing to add to your day with your baby. Some parents add it to what they do during diaper changes or at bath time, or just before naps or bedtime. Some parents build it into a routine every day, and others make it their own special way of connecting in the moment when needed. Either way, the benefits of infant massage are most definitely those needed and treasured ingredients for the making of a healthy human.
Rebecca Leeman, CNM offers infant massage classes once a month on Saturday at the Downtown office. CLICK HERE FOR ADDITIONAL INFORMATION. Register with Kathleen Briley as you would for our other classes.
Benefits of a Normal Physiologic Birth
Ask the Midwife – Benefits of a Normal Physiologic Birth
Q: I am expecting my first child in October, and I am both excited and scared. What can I do to have the best outcome for myself and my baby, and decrease the chance of interventions such as c-section?
A: Congratulations! Our goal is to support you in having the birth you want, with a happy and healthy outcome for mom and baby. First, let’s review normal birth. This process includes labor, childbirth and the immediate postpartum period. Normal birth begins on its own, results in vaginal birth, and the mother and baby remain together after birth, with the baby skin to skin. When labor begins spontaneously, hormones are released that help your body contract effectively and help you cope with pain. There is less of a chance that you will need a vacuum delivery or a cesarean. The hormones of labor also help your baby transition to life outside the womb, including maintaining a normal body temperature and respirations. Benefits of a normal birth process include better health for mom and baby, successful adjustment to life outside the womb, emotional satisfaction with the process and being able to cope well with the transition to motherhood.
It is important to give birth in an environment that feels private and comfortable, with the right support people present. Some women hire a doula for one on one support. Others have family members present. Only you can decide who you need for emotional support and it is worth thinking about ahead of time. Time limits on the progress of labor can lead to interventions. Active labor begins later than previously thought, not until about 6cm of dilation. Avoiding medication in early labor to increase contractions can help you stay on track to have a normal labor. Sometimes women are prevented from eating in labor; this may be a policy if an epidural is desired. Be sure to eat before coming to the hospital. You need the energy. Pain medications alter the course of normal labor but if they are needed they are there to help you through the process. Epidurals can slow labor down, and IV pain medication can make the fetus sleepy. Natural pain relief can include walking, tub or shower, birthing ball, massage.
Your ability to have a normal birth is influenced by many factors, including your overall health and fitness. If you have medical problems complicating pregnancy you are more likely to need induction of labor or other interventions. Often your knowledge base surrounding pregnancy can affect how you get through childbirth. We recommend childbirth preparation classes for first time parents. It is very important that you participate in decision making surrounding birth choices with your provider and feel supported in your decisions. It is also important for you to have the healthcare provider who is right for you; who listens, gives you time to decide, informs you of your options, respects your preferences and is willing to help you achieve your goals.
Finally, the basis of normal birth is to go into labor spontaneously, without using medication to start or speed up labor, unless there is a valid medical reason; to be allow nourishment in labor; to move around freely in labor; to give birth in your position of choice; and to receive the support you need from the people you choose. You should also have the option of having your baby’s heartbeat listened to with a doppler periodically rather that being strapped to a monitor. The majority of women are low risk and have normal pregnancies so are able to have a normal, intervention-free labor. Please ask questions during your pregnancy and birth so you can be fully informed to have the birth experience you want.
– Elizabeth Withnall, CNM
WSNM Congratulates Dr. Beverly Pucka on Retirement
All of us at Women’s Specialists send a heartfelt thank you to Dr. Beverly Pucka for her three decades of services to the women of our community. Known for her dedication to excellence in women’s care and loving patient relationships, Dr. Pucka is retiring on April 30, 2018. She has been caring for patients at WSNM for the last four years and we are grateful for her time in our practice.
Dr. Pucka’s patient records will remain at WSNM and her patients are free to select any of our providers to continue your care at WSNM. Call (505) 843-6168 to schedule your appointment with your new provider.
Join us in wishing Dr. Pucka a joyful and fulfilling retirement!
Nitrous Oxide for Labor Analgesia
Ask the Midwife – Nitrous Oxide for Labor Analgesia
If you are like most pregnant women, you have been putting some thought into labor and what will happen during that process. Pain management is something that many women consider ahead of time. It is very common to have concerns about it: how much will labor hurt? Will I be able to manage it? What are my options for pain relief if the pain is too much for me? Will the options really help enough? Most women are a little nervous when thinking of these questions. Many women have heard of pain relief options such as the epidural or IV pain medication. There is a new option being offered for pain relief in labor at Lovelace Women’s Hospital; one that in fact has been in use for over a hundred years but is becoming more popular currently in the United States. This option is nitrous oxide, a pain reliever in the form of gas that is inhaled by the laboring woman.
Nitrous oxide has been used for many years in Europe for pain relief in labor, and in fact has been used in some U.S. hospitals for as long as 20 years. More recently, the use of nitrous in labor units in the U.S. has become more common, including in NM. You may be familiar with nitrous oxide, or “laughing gas” from the dentist office. The form given for labor is a bit different from the dentist office. It is standardized so that the laboring woman receives a mix of 50% oxygen and 50% nitrous oxide when she holds the mask to her face. Since the woman is in charge of holding the mask, she cannot overdose on the medication. She holds the mask to her face and begins breathing in about 30 seconds prior to the onset of the contraction, and continues to breathe in and out until the contraction is over. She then breathes room air in between contractions. I always advise women that it can take a bit to get into the rhythm of using the mask and inhaling the gas, so give it a little time to work. There are a small minority of women who feel no effect from nitrous oxide, and there are some who will use it and decide it does not control their pain well enough, so they move onto other options such as the epidural.
The use of nitrous oxide in labor is safe for the fetus. No heart rate changes are noted on the fetal monitor and as soon as the mother stops breathing the gas it is out of both her system and that of the baby. Side effects can occur in some women, including nausea and dizziness and less commonly, vomiting. Women who have certain medical conditions are unable to utilize nitrous oxide during labor. These include women with B-12 deficiency, pernicious anemia, Crohn’s disease and chronic malnutrition due to alcoholism.
The use of nitrous oxide in labor does not affect the length of labor, neither shortening it nor making it last longer. It is very easy to learn to use, works to relieve pain quickly, and has no negative effects on the fetus. We have had laboring women use nitrous oxide during pushing, by figuring out how to hold the mask with one hand and hold someone’s hand or pull up on their leg with their other hand. Nitrous can also be used for pain relief in the case of manual removal of the placenta (if the placenta does not deliver normally and has to be removed by the provider). This has advantages over IV pain medications as then the new mom will not be groggy or sleepy after the procedure. Nitrous can also be used during suturing, in the event of a laceration during delivery.
Should you choose to use nitrous oxide during your delivery you will be asked to sign a consent. That consent includes not sharing the mask with anyone in the room; your privilege to use it will be taken away in that case! We are very excited to be able to offer this option for pain relief to the women in our practice that deliver at Lovelace Women’s Hospital. If you have further questions about this option, please ask us during your prenatal visit. We hope you have a wonderful childbirth experience no matter what you decide on for pain relief. And remember, you may have an idea of what you want, but you can certainly change your mind at any time during labor. An open mind and flexibility go a long way during the labor process. Happy birthing!
National Cervical Cancer Awareness Month
National Cervical Cancer Awareness Month
I love seeing women for annuals throughout the year, but I get a particular kick out of the women who come for their annuals in January. What a great way to start the year out with a commitment to self-care! Here we are at the end of January already, but you still have lots of time to get your annual done this year.
Did you know that January is Cervical Cancer Awareness month? We all know we should have our annuals and get Pap smears regularly but sometimes there is confusion about why we do Pap smears and what the results tell us. A Pap smear is a highly reliable way to screen for cervical cancer, or cancer of the cervix.
The cervix is the opening to the uterus. It acts as a doorway between your vagina and uterus (and therefore other internal organs as well!). Your cervix has to deal with quite a bit of germs, viruses and bacteria—and sperm!
Human papilloma virus (HPV) is one of the myriad of microorganisms that your cervix faces off against. HPV is transmitted skin-to-skin, so we usually blame penises and fingers for transferring HPV to the cervix, although sex toys can also harbor HPV for many hours.
Certain strains of HPV really settle into cervical cells. Most women’s immune systems clear HPV over time but occasionally worrisome types of HPV decide to hang around for years and can ultimately cause cervical cancer for some women.
When we do a Pap smear, we place a speculum so we can see your cervix and use a little brush to sweep some cells off of your cervix. The cells go to the lab where they check to see if the cells look normal or abnormal. In some cases, the lab also checks to see if the HPV strains which are high risk for cervical cancer are present. Abnormal results are a red flag that helps us help you have further testing and monitoring. Sometimes the cervix becomes normal again, but sometimes changes require even more monitoring and treatment. The goal is to prevent cervical cancer.
No one enjoys having Pap smears and it can definitely feel awkward, but it really is a simple test that can prevent cervical cancer.
Women should start having Pap smears at 21 years old and women can usually stop having Pap smears at 65 years old. How frequently you should have Pap smears depends on your personal health history. Our goal at WSNM is to provide you with individualized, evidence-based care so you can be healthy and thrive for decades and decades. Check your calendar and give us a call!
Women’s Specialists of New Mexico Moves Downtown Office
New Location Will Improve Patient Experience
On November 1, WSNM officially moved our home office from 201 Cedar St SE to 1001 Coal Ave SE. The new location is one block south and the change is being made to increase convenience for patients. The new location on Coal offers more parking spaces, shorter walking distances and easier access to appointments.
According to WSNM Executive Director Kathy Teston, “This move is about creating more convenience for our patients. The complaint we hear most often from patients and family members who see us at the downtown office is about parking. Our current location at the Presbyterian Hospital campus on Central Avenue is inside a multi-story building on the fifth floor. Patients often walk long distances across crowed outdoor parking lots or navigate a large, hectic parking structure. Our new office is a two-story building with plenty of on-site surface parking. We have been communicating about the move with our patients for a few months now and we are getting very positive feedback.”
“Our downtown office tends to be our busiest”, said Teston, “we have 12 full-time providers seeing 35,000 patient visits a year. We are investing in the new space at 1001 Coal for our patients’ convenience and we’re also taking the opportunity to provide patients with a fresh and up-to-date medical office.”
August Skin Care Specials
At Oasis we can help you cleanse, tone, correct and protect your skin. We have a full spectrum of skin care facials ranging from our signature Calming Facial to our Pumpkin Retexturizing Facial for both men and women. We also carry leading skin care lines to include Skin Ceuticals, ELTA, BioPelle and more.
For the month of August, we are offering special discounts on facials ranging from 10% – 20%, depending on how much you spend with us.
Spend $50 to $150 and receive 10%off
Spend $151 to $350 and receive 15%off
Spend $351 or more and receive 20% off
Our Esthetician, Nicole Ortega, is incredibly well-trained and personable. Nicole graduated from the New Mexico Aveda Institute in December of 2001 in Esthiology and has a wide range of knowledge in the field.
At Oasis we provide clinically proven cosmetic services and take the time to understand patient goals and health concerns as we recommend treatment plans and products. I think this makes us different from other cosmetic spas and invite you to visit us at the Oasis Med Spa.
Call (505) 344-1444 to schedule your appointment today.
I AM WOMAN – BETH
I AM A RUNNER
I AM A CFO
I AM A TRIATHLETE
I AM A WOMAN
Women’s Specialists of New Mexico is dedicated to the health of all women, from teens and pregnancy, to gynecology and beyond.