Menopause and Hormone Therapy – What’s New?

estrogen replacementIt was only about 100 years ago that the average woman’s life expectancy increased to the extent she would live past the time of menopause. Now with the average life expectancy into the 80’s, a woman may live more than 1/3 of her life in the menopause. The number of women in the menopause is increasing and expected to go up even more. The consequences of menopause include hot flashes, night sweats, insomnia, skin changes, mood changes, depression, anxiety, irritability, loss of libido, vaginal atrophy, cardiovascular disease and weakened bones. How can hormone therapy be safely used to help treat this problem affecting so many women?

We need to put hormone therapy in perspective, and also consider risks and benefits of treatment. Although there is a lot of controversy in the media, patients look to their doctors to be their advocates and give good advice about treatment. It’s our duty as doctors to be informed and advocate for our patients. We need to treat disease in a preventive way, rather than wait for the damage to be done. Disease often starts off in a pre-clinical way, and with some diseases it can be difficult to detect early on. Many diseases that occur have their roots decades before they can be detected, and similarly their treatment may take time to demonstrate a benefit.

Menopausal symptoms

Hot flashes are one of the most bothersome symptoms of menopause. 50% of women have them longer than 4 years, 23% more than 13 years. Temperature regulation helps your body maintain the proper temperature by causing sweating when you are hot and chills when you are cold, thus maintaining a neutral zone of comfort. Hot flashes are a disturbance of this system which are thought to be due to a change in the temperature regulatory system where a decrease in estrogen causes a decrease in the size of the normal thermo-neutral zone in-between sweating and shivering. The end result can interfere with your sleep and your comfort.

Benefits and risks of treatment

Combination estrogen and progestin therapy is FDA approved to treat menopausal hot flashes, prevent osteoporosis, treat vaginal atrophy, and provide other benefits to reduce insomnia, irritability and short-term memory loss. Hormone therapy is highly effective to relieve hot flashes, both their amount and intensity. In women who have a uterus, estrogen alone therapy can increase the risk of uterine cancer, but the increased risk is removed once progesterone therapy is added to estrogen. In 2002 the Women’s Health Initiative study came out and revealed risks of this treatment, including an increased risk of heart disease, stroke, blood clots and breast cancer when both estrogen with progesterone are taken. This had the effect of scaring women into avoiding estrogen therapy even though the absolute risk was only 8 per 10,000 women and the study was based on doses higher than are in use today. This risk is roughly equivalent to the risk of dying in a car accident, and is relatively rare. Rather than being misled by percentages of change, it’s more scientific to consider the absolute risk, and when the risk is less than 1 per 1000 you must weigh that small risk against the improvement in relieving symptoms you get with the right treatment. Other variables to consider include age and method of treatment. Women receiving hormones in the age group of 50-59 have a much less risk of coronary heart disease, stroke, and breast cancer than those in the 70-79 age group. Also women who receive estrogen through a transdermal patch have a significantly reduced risk of a blood clot compared with oral treatment, possibly due to a more stable delivery system and avoiding metabolism by the liver where clotting proteins are made.

Having a uterus makes a difference

Having had a hysterectomy means that hormone replacement therapy need only include estrogen, which is the hormone that conveys most all of the benefits and very little risk. This good hormone decreases the risk of heart disease, protects against breast cancer, and reduces damage to blood vessels with benefits in the brain leading to less risk of Alzheimer’s disease. Women who don’t have a uterus are in a much better position because the only major risks to consider are those related to blood clots and much of this risk can be reduced by getting estrogen through transdermal medications that don’t affect the liver where clotting proteins are made. There are benefits in vaginal lubrication, increased vaginal thickness, better sexual function, better support of the bladder, improved bone strength and decreased cancer of the colon.

Having a uterus makes treatment more complex, because an progestin needs to be added to treatment to decrease the risk of uterine cancer. But what if there were a medication available that can still provide estrogen benefits without the progesterone risk? Well, there is a new type of estrogen now available called a SERM, or selective estrogen receptor modulator, and when combined with a traditional estrogen, its called a TSEC, or tissue selective estrogen complex. The new estrogen has been designed to have some progesterone-like beneficial effects on the uterus (but without a progestin) and also when combined with a traditional estrogen conveys an improved quality of life, more satisfaction with treatment, improved vaginal health, improved sleep, improved bone density, significantly less hot flashes, with less breast pain and less bleeding. The new medication, Duavee, combines an estrogen with a synthetic “designer” estrogen called Bazedoxifene and represents an improved hormone therapy for those women who have a uterus.

While combined traditional hormone replacement therapy can still be used for the majority of women being treated, there are groups of women who are particularly good candidates for this new approach, including women with a family history of breast cancer, women who have had a problem with combined therapy such as tender breasts, those with increased breast density, or if they have had bleeding issues.


We need safe and effective treatment for menopausal symptoms. The risk of breast cancer is slightly increased with hormone therapies that combine estrogen with progesterone, but not with estrogen alone or in combination with a new estrogen (called a SERM). TSECS combine an estrogen with a SERM to provide relief of menopausal symptoms without the increased risks caused by progestins and offer a new, safer treatment for menopause. These new developments in hormone therapy are just the beginning of designing new safe treatments that provide more benefit at less risk.

This information is from a course “Menopause and Hormone Therapy” given at the 2015 ACOG Annual Clinical Meeting and was presented by Drs Hugh Taylor and JoAnn Pinkerton.

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Apps for Pregnancy, 2015

Apps can be useful and fun. I’m always asking my patients which apps they like for pregnancy. These are some apps that have been recommended to me:

  1. My Days – Period and OvulationIMG_3685

This free, accurate app has is very helpful for determining the best days of fertility and improving your chances of becoming pregnant more quickly. It tracks periods and uses this information to predict fertility in the upcoming month.

Or… it can be used as a birth control rhythm method by knowing which are the most important fertile days and avoiding intercourse at that time.

  1. Perfect OB WheelIMG_3686

Comprehensive pregnancy wheel contains information about conception, length of pregnancy, due date.   It’s simple, fast, free, and has input flexibility, allowing you to put in the last menstrual period, the conception date, the estimated date of confinement, or the number of weeks and days of gestation based on ultrasound dating.

  1. IMG_3678What to Expect Pregnancy

This very popular app includes a due date calculator, week-by-week details on your baby’s development, weekly baby illustrations, updates on your changing body, and countdown to your due date. You get daily tidbits of advice and it also includes helpful information for dads. It’s from the popular book “What to Expect When You’re Expecting” and works on the iPhone, iPad and even the Apple Watch!

  1. IMG_3679Contraction Timer by iBirth

The value of a contraction timer is in its simplicity and ease of use. This app makes timing of contractions during labor easy. It has a simple interface, tracks the duration of each contraction, tracks the intervals between contractions, and has a history report for tracking labor progress over time. It’s great for tracking information that your doctor will want to know in assessing if labor has begun.

  1. IMG_3680Baby Names!!

For people who would like some help in choosing a name, this app will show you the name’s meaning, pronunciation, gender and origin. It also includes graphs of a name’s popularity over time. For example, the most popular girls names now are Sophia, Isabella, Emma, Olivia, Ava and Emily! It links to Wikipedia and gives you oodles of information of more than 30,000 names. It has a feature that chooses names that fit with those of parents.

  1. IMG_3684Sex Life – 100+ Positions

This fun guide to sex positions may add some variety to your life!   This app has a contemporary style and can help you try different positions, rate them, keep track of what you have tried, and choose favorites.

A score board gives you an overview of your progress.

  1. IMG_3681First Aid.                                       A useful guide to quick treatment of many different medical emergencies from the American Red Cross, including allergic reaction, burns, poisoning, broken bones, choking, heart attack, heat stroke, seizures, shock, insect bites, unconscious and not breathing. The app has much useful information that can help you take care of an emergency by yourself or while waiting for help to come.
  2. IMG_3682LactMed.

LactMed is part of the National Library of Medicine (NLM) Toxicology Data Network and is a database of drugs and dietary supplements that may affect breastfeeding. It includes information of the levels of substances in breast milk and how they could adversely affect the nursing infant.

These apps can be very helpful.  But you have to be careful when getting health related apps because some of them may superficially appear reliable but actually are not based on medicine or science. A recent article “Identification of iPhone and iPad applications for obstetrics and gynecology providers” performed a scientific search for quality ob/gyn apps with results described as “finding a needle in a haystack.”

The good news is that more apps are being written every day. As time goes on, I’ll report back on other apps I have found useful and based on reliable information.

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United Health changes coverage for hysterectomy

UnitedHealth announcementUnited Health, the nation’s largest health insurer, is changing rules on coverage for hysterectomy. As of April, 2015, UnitedHealth Group will require doctors to obtain additional authorization before performing most types of hysterectomies. Only vaginal hysterectomy performed as an outpatient basis won’t require additional prior approval. Hysterectomy, a procedure done in the U.S. more than 500,000 times per year, is a gynecologic treatment commonly used for heavy bleeding or persistent pelvic pain.

The preferred method for performing a hysterectomy is through the vagina. Vaginal hysterectomy is done by a technique where there are no abdominal incisions, and neither the laparoscope nor the robot is used. According to ACOG, the American Congress of Obstetricians and Gynecologists, vaginal hysterectomy is associated with better outcomes, quicker recovery, and fewer complications than laparoscopic, robotic, or abdominal hysterectomy. With no abdominal incision we would expect less postoperative pain, and a quicker return to normal activity. Yet today vaginal hysterectomy is used in only 22% of cases.

An article published last year cited the experience at a Philadelphia hospital, and concluded that the average hospital costs for the procedures were $7903 for vaginal hysterectomy, $11,558 for total laparoscopic hysterectomy (TLH), and $13,429 for robotic-assisted hysterectomy (RH). The net hospital income was $1260 for vaginal hysterectomy, with losses of -$4049 for TLH and -$4564 for RH. Why would surgeons choose a more expensive method for surgery, one that is not better by any medical metric?

Some surgeons haven’t mastered the skills of vaginal surgery because in residency programs it is not taught as often as laparoscopic and robotic surgeries. Some hospitals push robotic surgery because they have to pay for the expensive equipment it requires. It is thought to be good for marketing the “modern” image the hospital wants to portray. One of our local hospitals had “the robot” on display in their lobby for weeks for marketing purposes.

When a vaginal hysterectomy is performed the cervix is removed, and along with that removal the major risk of cervical cancer is also removed. The cervix is left behind in most laparoscopic or robotic hysterectomies. Some surgeons erroneously think leaving behind the cervix is a good thing for the patient. A review of nine studies showed “no evidence of a difference in the rates of multiple outcomes that assessed urinary, bowel, or sexual function between TH or STH (leaving the cervix behind) either in the short term or the long term.” Leaving the cervix behind also increases the likelihood of cyclical bleeding up to two years after surgery.

Part of the reasoning for United Healthcare limiting the use of laparoscopic and robotic hysterectomy comes as a backlash against power morcellators. Morcellators, a tool used during laparoscopic hysterectomy, recently had their use restricted by the FDA after information about their association with spreading undetected uterine cancer was revealed.laparoscopic worries A series of articles recently described the hidden dangers of using this surgery. Despite the new information about the risk of spreading cancer, changing surgical skills to promote vaginal hysterectomy is going very slowly.

Whatever the reason for not being able to do recommend a vaginal hysterectomy for their patients, be it lack of training of surgical skills, or the lure of cool surgical toys or fancy marketing, some surgeons don’t want to refer their patients to surgeons who have the skill to do a vaginal hysterectomy because of lost money or perceived loss of prestige.

United Healthcare’s notice, affecting their 40 million female members covered by the insurer, said that physicians who don’t get preauthorization for the procedure (anything except vaginal hysterectomy) will have their claim for compensation denied. If gynecologists can’t do the right thing for their patients, and their professional society (ACOG) can’t persuade them, it’s not surprising that insurance companies are stepping in to point them in the right direction.

Our group of gynecologists, Doctors Seigel, Gottlieb and Cannon are glad we can offer vaginal hysterectomy for our patients, and encourage other gynecologists to also recommend this preferred procedure whenever appropriate.

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Vaccinations are good for you.

From December 28, 2014 through January 21, 2015 more than 50 people from six states were reported to have measles, mostly from an outbreak linked to Disneyland in California.

Measles is a highly contagious, acute viral illness. It begins with fever, cough, runny nose, and pink eye 2-4 days prior to developing a rash. It can cause severe health complications including pneumonia, encephalitis and death. Measles is transmitted by contact with an infected person through coughing and sneezing. Infected people are contagious from 4 days before their rash starts through 4 days afterwards. After an infected person leaves a location, the virus remains viable for up to 2 hours on surfaces and in the air.

Measles was declared eliminated in the United States in 2000 because of high population immunity brought about by a safe, highly effective measles vaccine (MMR). However, measles is still present in many parts of the world and outbreaks still occur in the U.S. when unvaccinated people become infected. Disney and other theme parks are international attractions, and visitors come from many parts of the world where the measles vaccine is not readily available.

More disturbing though, are people who refuse to vaccinate their children due to a “philosophical” objection. As it turns out, there is no medical support for theory that vaccines are harmful. There is no evidence that the MMR vaccine causes any chronic illness. The question about vaccine safety started with a bogus report published in the British Medical Journal in 1998 claiming the vaccine caused autism. By the time that scientists determined that the data had been falsified so the author could collect hundreds of thousands of dollars from a lawyer suing vaccine companies, the damage had been done: many people believed that the MMR vaccine was harmful. The BMJ retracted the article in 2010 when the pattern of falsified data to support a lawsuit was found out. However, a damaging public health scare that associated MMR with autism had been falsely created.

Vaccine facts include that more than 100 million diseases have been prevented by vaccinations in the US alone. The HPV vaccine (Gardasil) is safe and is nearly 100% effective in preventing cervical cancer produced by certain HPV strains. Gardasil coverage has been strengthened and an even better version (Gardasil 9) will be available soon. The flu vaccine does not cause the flu and is safe for pregnant women to take. TDAP vaccine has been found to be safe during pregnancy and should be given to all pregnant women between 27 and 36 weeks of gestation to decrease the risk of pertussis (whooping cough) in newborn babies.

Giant PeachThe famous author Roald Dahl dedicated his book “James and the Giant Peach” to his daughter Olivia, who died of measles. He hoped that telling people about her death would serve to protect others from illness and death from this disease. He wrote: “Here in Britain, because so many people refuse, either out of obstinacy or ignorance or fear, to allow their children to be immunized, we still have 100,000 cases of measles a year. More than 10,000 will suffer side effects and about 20 will die.“

The exponential rise of the latest measles epidemic in California due to large numbers of unvaccinated people should serve as a warning about the dangers of giving people the right to not vaccinate their children based only on “personal beliefs.” Vaccines are good for you and we encourage our patients to receive them to improve their health and the health of their children.

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Most Popular Baby Names of 2014

Your newborns Sophia and Jackson have some company this year. They’re the most popular girl and boy names of 2014, according to BabyCenter, a pregnancy and parenting online

It’s Jackson’s second year as No. 1, and the name Sophia has reigned supreme as the No. 1 girl name for five years.

“This year’s list shows Jackson has staying power and is not a one-hit wonder, and Sophia is arguably the Jennifer of its generation with five consecutive No. 1 spots. It’s clearly entered the baby name hall of fame,” said Linda Murray, BabyCenter’s editor-in-chief, in a statement.

But the most pervasive baby trend? TV-inspired names. According to BabyCenter, 20% of moms found naming inspiration from TV-show characters and 16% got names from celebrities, leading Murray to call this the year of the “binge-watching baby name.” Cited in the “Netflix effect”:

• House of Cards character names were up since 2013: Garrett (up 16%), Claire (up 14%), Zoe (up 13%), Remy (up 11%), Frank (up 19%) and Francis (up 5%).

• Orange is the New Black characters were up since 2013: Galina (up 67%), Nicky (up 35%), Piper (up 28%), Larry (up 28%), and Dayanara (up 19%).

Other shows with name-inspiration power: Nashville and Shonda Rhimes-helmed shows including Grey’s AnatomyScandal and How to Get Away with Murder.

And in the year where the famed baseball player announced his retirement, the name Jeter increased 82% and Derek moved up 4%.

Here are the top 10 names for each gender. The site’s listings come from about 406,000 parents registered on the BabyCenter website who shared their baby names. Different spellings of names have been combined.

10 most popular girl names of 2014:

  1. Sophia
  2. Emma
  3. Olivia
  4. Ava
  5. Isabella
  6. Mia
  7. Zoe
  8. Lily
  9. Emily
  10. Madelyn

10 most popular boy names of 2014:

  1. Jackson
  2. Aiden
  3. Liam
  4. Lucas
  5. Noah
  6. Mason
  7. Ethan
  8. Caden
  9. Jacob
  10. Logan

BabyCenter has also listed the most “unique and surprising” baby names of the year, which is worth a bemused perusal. The names include Amore, Rhythm, Finnick (hello, Hunger Games) and Zeppelin.

The survey also found that 94% of parents used social media/technology to announce the name (58% used Facebook).

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Birth Control in your Arm!

Nexplanon – A new method of birth control in your arm!

Nexplanon is a small, sNexplanonoft, flexible birth control implant, 4 centimeters (1.6”) in length that we place just under the skin of your upper, inner arm. This location, hidden from view, provides up to 3 years of continuous prevention against pregnancy.

Once inserted, it is over 99% effective for birth control but, unlike the pill, you do not need to remember to take it every day. This ease of use with reversibility makes it a superior birth control method.

The insertion procedure is simple. Local anesthesia is used to numb a small area in your upper left arm (if you are right handed, and the opposite arm if you are left handed). There is a small device we use to insert it with the goal of a very small cut to put the implant in its correct position, just below the skin. Here, you can feel it to confirm it is in its proper place. A steri strip is placed that stays on for a week, with a bandage that you keep on over night. This tends to minimize any bruising and helps prevent a scar.Nexplanon in arm

The implant contains a form of progesterone called etonogestrel. This progestin hormone prevents you from ovulating, similar to the effect of the birth control pill. Unlike the pill, it does not contain estrogen, so it can be used while breast feeding.

Progesterone may increase your risk of blood clots, especially if you have other risk factors such as smoking, similar to birth control pills. Nexplanon may change your menstrual bleeding patterns or make menstrual periods lighter or stop. Other side effects can include headaches, nausea, weight gain, and pain at the insertion site. You should also inform your doctor if you need to have surgery or lengthy bed rest as this could increase the risk of a blood clot.

Nexplanon also does not prevent sexually transmitted infections such as chlamydia, gonorrhea, herpes, warts, HPV or HIV. It is strongly recommended that you practice safe sex.

If you change your mind about using Nexplanon after it is inserted, or if it is approaching 3 years, we can remove the implant at any time, and your fertility would be expected to return quickly. Removal of the implant is similar to insertion, in that it is usually a simple procedure done in the office with local anesthesia, and the incision used to remove it is very small. Rarely, removing the implant may be difficult if the implant is not where it should be. Special procedures including surgery may be needed if the removal is not easily accomplished.

If you want birth control more than 3 years we can remove the old device and insert a new one, usually at the same location in your arm, and at the same office visit.

All things considered, this new birth control method is highly safe, effective and dependable. It is very low maintenance, and does not require frequent visits to your pharmacy and remembering to take it every day at the same time. If you are a busy person, and want to use a safe, convenient method, you should consider it.

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FDA warns about using morcellation to remove uterine fibroids

The FDA on April 17, 2014 took a rate step of advising doctors to not remove uterine fibroids by a technique known as open power morcellation. This technique had become very popular as a tool used during minimally invasive gynecologic surgery as tumors can be removed during small abdominal incisions, reducing the pain of surgery and decreasing the time needed for the patient’s recovery. It is estimated that in the U.S. approximately 55,000 to 70,000 women have morcellation-aided hysterectomies every year. Gynecologists knew from the beginning that morcellators can drop bits of tissue. It was also suspected that in rare cases that a fibroid tumor can contain a hidden cancer. A study from South Korea in 2011 raised interest in this issue by showing how morcellating these tumors was more likely to spread cancer and worsen survival rates. The issue got even more attention in December when a 41 year old anesthesiologist at Boston’s Brigham and Women’s Hospital, Dr. Amy Reed, had inadvertent morcellation of a malignant tumor that resulted in a worse prognosis.Dr. Amy Reed

The FDA’s statement says it “discourages the use of laparoscopic power morcellation for the removal of the uterus (hysterectomy) or uterine fibroids (myomectomy) in women … because it poses a risk of spreading unsuspected cancerous tissue.”
“Based on currently available data, approximately 1 in 350 women who are undergoing hysterectomy or myomectomy for fibroids have an unsuspected type of uterine cancer called uterine sarcoma. … A number of additional treatment options are available for women with symptomatic uterine fibroids, including traditional surgical hysterectomy (performed either vaginally or abdominally) and myomectomy … performed without morcellation.“

The morcellation debate has sparked a big change: several hospitals including Brigham, Temple and Massachusetts General now say they require doctors for the first time to advise women about the cancer-spreading risk. What women do with that information is up to them. But, compared with a few months ago, they have a better chance to weigh the consequences as well as the benefits of less invasive surgery.

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Hereditary Cancer Risk

The field of medicine is changing rapidly through the advances made by genomic technology. We are on the verge of an exciting era where we will be able to have personalized medical care and treat each person based on his or her individual risks. For example, every woman fits into one of three risk categories for breast cancer. A person may face only a sporadic risk with the same risk as the general population, or their risk may be increased due to a positive family history, or increased even more if they are discovered to have an inherited genetic risk.  Focusing on a person’s family history gives us the opportunity to detect those people who face a significantly increased danger of developing cancer and then use proven successful strategies to reduce that risk.Geneticsmutations

Cancer screening depends on risk. Women who face only the sporadic risk of breast cancer do not need additional screening beyond that for the general population: regular mammography starting at age 40. Those who have an increased risk due to family history or who have dense breasts would benefit from more frequent screening with mammography, breast ultrasound or breast magnetic resonance imaging starting at least 10 years prior to the age of cancer diagnosed in their youngest affected relative. A small number of women carry the highest risk for gynecologic cancer due to having a defective gene. BRCA gene carriers, for example, should have testing started 15 years earlier than average, and usually benefit from oral contraceptives to decrease the risk of ovarian cancer. They also benefit from surgery to reduce their risk such as preventative removal of the ovaries, as otherwise the risk of ovarian cancer can be as high as 44% by age 70.

There are about 1 million people in the United States carrying genes for the most common hereditary gynecologic cancers: BRCA and Lynch syndrome. Hereditary Breast and Ovarian Cancer syndrome (HBOC) is seen in approximately 10% of breast and ovarian cancer patients. This autosomal dominant genetic disorder is caused by mutations in tumor suppressor genes BRCA1 and BRCA2. Red flags for HBOC syndrome include a three generation family history positive for breast cancer prior to age 50, bilateral, triple negative or male breast cancer, ovarian cancer at any age, prostate, pancreatic or melanoma cancer under age 50, Ashkenazi Jewish population, or a known BRCA mutation in the family.

About 20% of colon and endometrial cancers are associated with a strong family history of cancer. 5% occur in autosomal dominant genetically defined high-risk syndromes such as Lynch syndrome. Risk factors for Lynch syndrome include colorectal or endometrial cancer before age 50, colorectal cancer in 2 generations on the same side of the family, ovarian or gastric cancer at any age, and 2 or more individuals with colon, endometrial, ovarian, gastric, brain, biliary, pancreatic, or small bowel cancers.Geneticsreduce

Cancer risk assessment is one of the key parts of the annual well woman exam. Standard pap testing has been successful in reducing cervical cancer, and so too can screening for hereditary cancers result in cancer prevention and early detection. Knowing one’s cancer risk can guide lifestyle choices and the choice of medications that can safely decrease cancer risk. 10% of people carry increased cancer risk, and approximately 6% of people have increased genetic family risk that makes them eligible for testing to determine if their risk is greatly higher than was previously thought. If positive, this result can have a positive impact on not only the patient, but also their relatives and their descendants.

With our understanding of cancer genetics progressing rapidly, knowing one’s detailed family history and then determining who is at increased cancer risk can be of great value in having a safer, healthier life.

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Hypertension in Pregnancy

One of the most significant developments in Obstetrics for 2013 was the publication of a 99-page report by the American Congress of Obstetricians and Gynecologists, ACOG logoHypertension in Pregnancy.

Hypertension (elevated blood pressure) affects over 10% of all pregnancies and there have been increases in the rate of pregnancy hypertension and preeclampsia (high blood pressure during pregnancy with protein in urine or other systemic conditions) by 25% in the last 20 years. Preeclampsia is a leading cause of maternal morbidity and mortality, with an estimated 50,000 preeclampsia-related deaths worldwide each year. There has been an increased interest in how to detect it earlier, how to prevent it and how to guide management of it. The most important topics in this new report have to do with management of the different complications of pregnancy hypertension, as they can be complex and range from mild impairment to severe pregnancy risks.

This report contains important individual recommendations. The underlying theme is that the condition is not stable. Rather, it is progressive. These patients need to be watched very closely as mild preeclampsia can quickly progress to severe preeclampsia (see table) Preeclampsiaand can even worsen after delivery. Each of these diseases can progress, and for some patients early delivery is not an option, but is imperative. Close monitoring of the mother and baby is essential.

There also needs to be an increased postpartum surveillance, as the disease may not improve for weeks after the baby is born. As some pain medications may make the problem worse, the use of nonsteroidal anti-inflammatory agents (such as Motrin, Aleve, Advil, and ibuprofen) should not be used for women who have elevated blood pressure more than one day post partum. Other pain mediations would be safer. Continued evaluation of both the patient and her fetus during pregnancy is to be followed by continued surveillance of the patient after delivery and discharge from the hospital.

Magnesium sulfate used to be recommended for all patients with preeclampsia, but now the recommendation has been changed to use it only with preeclampsia where severe features are present.

One recommendation emphasized is that the use of proteinuria for management of preeclampsia is useful for clinicians, but is not required for the diagnosis of preeclampsia if other preeclampsia conditions are present affecting the platelet count, the liver or other organs. As the diagnosis for preeclampsia used to be a rigid one, many women previously were not included in the diagnosis of preeclampsia and the progression of their disease may not have been detected as quickly. This new definition of preeclampsia is more inclusive and will help to identify those whose women who will now qualify for increased monitoring and expedited treatment.

Hypertension is a problem that is pervasive throughout our society.  Some women may already have it as they enter pregnancy. Pre-conception counseling can be helpful to control hypertension and diabetes and minimize obesity early on, making it less likely that elevated blood pressure will cause trouble during pregnancy and after.

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Cell free DNA for Prenatal Genetic Testing

HarmonyPrenatal detection of chromosome abnormalities has been available for over 40 years. Amniocentesis started in the early 1970s and then chorionic villus sampling (CVS) in the 1980s. Given that increasing maternal age is associated with a higher risk of genetic abnormalities such as trisomy, the main use for testing used to be for testing offered to pregnant women 35 and older. But, according to the American Congress of Obstetricians and Gynecologists, all pregnant women should be offered prenatal testing for chromosome abnormalities.

What is a trisomy? Humans have 23 pairs of chromosomes, which are strands of DNA and proteins that carry genetic information. A trisomy is a chromosomal condition that occurs when there are 3 copies of a particular chromosome instead of the expected 2.

Trisomy 21 is due to an extra copy of chromosome 21 and is the most common trisomy at the time of birth. It causes Down syndrome, which is associated with mild to moderate intellectual disabilities and may lead to digestive issues and congenital heart defects. Down syndrome is present in 1 out of every 740 newborns.

Trisomy 18 is due to an extra copy of chromosome 18. Trisomy 18 causes Edwards syndrome and is associated with a high rate of miscarriage. Infants born with Edwards syndrome may have multiple medical problems and a shortened life. It affects 1 out of every 5000 newborns.

Trisomy 13 is due to an extra copy of chromosome 13 and causes Patau syndrome, which is associated with a high rate of miscarriage. Infants born with it have congenital heart defects and rarely live more than a year.

Sex chromosome conditions involve the X and Y-chromosomes, which make us male or female. Testing can determine the presence of an extra copy of one of the sex chromosomes (Klinefelter syndrome) or the absence of one copy (Turner syndrome).

Although young women have a low risk of conceiving a child with Down syndrome (trisomy 21), the majority of pregnant women are in their teens, twenties and early thirties. For these women having an invasive test (amniocentesis and CVS) is not a good option as the risk of complications from the procedure is greater than the chance of finding a genetic abnormality.

For this reason, a number of non-invasive prenatal tests (NIPT) have been developed, including first trimester genetic screening (NT test), maternal blood testing (AFP test) and ultrasound evaluation at 18-22 weeks. All of these tests have limitations in their accuracy and their need for follow-up confirmation by additional testing.

For years scientists have been looking for a more powerful test, safe, accurate and specific. It appears it may now have been discovered in the test called cell-free DNA.  Direct analysis of fetal cells in maternal circulation is limited by their scarcity; only about 1 in a million cells in maternal circulation are fetal in origin. But the fetal DNA has been found in much greater amount. There are now many confirmed reports of the successful analysis of cell-free DNA for non-invasive prenatal testing for chromosomal abnormalities such as Down syndrome.Chromosome

Fetal DNA accounts for 3-13% of the total cell free maternal DNA. The test can be performed as early as 10 weeks gestation. The sensitivity for trisomy 21 (Down Syndrome) is high, about 99% with a low false positive rate, less than 1%.

Cell Free DNA is a screening test with the advantages of early detection, high sensitivity and low false positive rates. The disadvantages of it include that it does not test for other abnormalities such as Neural tube defects and only screens for trisomy 13, 18, 21 and sex chromosomes. There is only limited experience with the analysis of twin pregnancies and in very overweight women. The main disadvantage is that it can cost between $795 and $2762.

Currently cell free DNA testing is recommended for women of advanced maternal age (35 or older), women who had a prior child with trisomy, and those with abnormal prenatal screening results. In the future, as the test gathers more experience and if the cost becomes less, cell free DNA may be offered for genetic screening of all pregnant women.


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