Thursday, November 28, 2013

People you would like to know:

It is now just after midnight on the beginning of Thanksgiving day. I am trying to catch up on my labs and reports for patients. 

I am looking at a report from a Neurologist consultation for a 26 year old nurse who has terrible migraines and some painful disk disease in her back.  So I am thinking of her personality and her character strengths. I know her well. 

She also has two small children that I have delivered for her. She is in the late stages of nursing her second baby now. 

Despite having these medical and life challenges, this is a person that I think that you would be glad to know her acquaintance. 

Think of her lifestyle: She is a nurse. This means she is dedicated to the proposition that other people need hands on care to improve their well being. She also has two small children, who obviously need her time. In addition to this, she has back and neck pain, and frequent migraines. 

Despite all of this, this person is never in a mood to be mean. She seems to always be in an uplifting mood. Her husband is the executive chef for a large corporation. He is a big guy, tall and substantial in size. He is similarly in a good mood. They are both busy in their life, but they get along very well, and their kids are doing well. 

It is people like this that make the world a better place. Both of them, the new mom and her husband, are the kind of people that anyone with any sense would like to surround themselves with. 

In my role as her personal physician, I am dedicated to helping her optimize her life. But for my sake, I am glad to be able to be there and do my best. I feel myself lucky to be able to be a big part of the life of people who give so much value to the world. 

I try to live my life in a way that is an example for other people. I try to do good deeds, because they come back 10 fold. I try to have good karma, because that reflects back on me as well. 

I think that many if not most people are really good for the world. The good people of the world, which is most of them, make the world a much better place for all the rest of us. I hope I am numbered among those of us who enrich the lives of others. I think I do. But ultimately others will need to judge me. And then I, like all the rest of us, will face my judgement day. 

Upon further reflection, I find that most of my patients are very good people in their hearts. Everyone has challenges, but most people enrich the world more than they take from it. 

So that is my Thanksgiving message on this Thanksgiving day. Among all of the turkey feasts, and pumpkin pie, I give thanks that there are so many good people in the world that enrich my life, and that allow me a position of honor to enrich their lives. 

Thanks for reading my blog 

Dr John W Marcus MD FACOG  
Obstetrics and Gynecology 
89 North Maple Ave 
Ridgewood, NJ, 07481 

Phone 201-447-3560 
Fax 201-447-3560 

Blog is at doctorjohnmarcus.blogspot.com 

Comments are welcome 

Monday, November 25, 2013

International Medicine, British-isms, and "Melting Pot" medicine


I just did a checkup for a 35 year old woman who had a very nice cockney accent. This means she is from a central neighborhood of London. I think that means she grew up within listening distance of a certain cathedral's bells. Or maybe Big Ben. I am not sure which cathedral, but it is a somewhat small area. The cockney accent is unique in the English language. Once you understand what it sounds like, you probably won't forget it. I delivered her baby about two years ago. Having a nice conversation with her was really fun. I like to provide my care in a culturally aware manner and I did no different for her. Knowing peoples backgrounds is not only fun for me, but it allows me to fine tune my conversation and words in a manner that enhances communication and maybe makes them a little less uncomfortable in the office.

Either that or I make myself into a culturally clumsy buffoon <sigh>.  But I try and it is fun.

Here in Ridgewood, in Northern New Jersey, 20 minutes from the George Washington Bridge, I get customers from all over the world. I have many patients from all over Europe, especially Germany (BMW is close by). I have patients that work in Embassies, and in the United Nations. Many of my patients hail from all of the big countries of Europe. Many from Eastern Europe. I have learned a little bit of Russian from my Russian patients. I would like to say Bolshoi Spasibo to my new Russian mommies. One of which is leaving The Valley Hospital with her new 7 pound 10 oz baby tomorrow.  There is a ton of South Americans here. Brazil is well represented because it is a giant country with a lot of corporate connections. I have decided that my favorite Cesarean Section music is called "Brazilian Soul". Think of the "Girl from Ipanema". It is beautiful and peaceful music, and I started that music with a super nice couple from Brazil.

Check this out http://www.youtube.com/watch?v=kDGUZeZWKZo

This is a song from the musical genre called Bossa Nova, from Brazil. It is mostly in Portugese. Not that song itself, but the Bossa Nova.

But I have patients from most of the South American countries and cities, Buenos Airies to Caracas, even Havana. These folks are so lucky because their winter vacations brings them to summertime when they go back home. Some of them stay there for a month, and avoid our winter snows.

Of course no city on the planet doesn't have a lot of Chinese, and we are no exception. Mandarin, Cantonese, Taiwan, Hong Kong, etc. They are all here.

There are so many ethnic Asian Indians that I think of them as locals now. No matter what city they come from, Mumbai to Calcutta to the small towns, they seem more local than foreign. Many of them speak their uniquely accented English.

There are many Japanese folks. Konichiwa my friends.

There are a good amount of families here that hail from Turkey. Many of them speak German, American English, some speak Aramaic,  (The language of Jesus Christ), Swedish, etc.

Lebanese? Of course. They have a most beautiful French sound to their accent. I try to say Bon Jour to them when I arrive in their room. Comment Alei Voux, mon ami?  I really don't know how to spell in French. And I certainly don't know how to write the special characters. Other Arabic countries as well. Then there are many Persians, from Iran.  No middle east list would be complete without all of the different kinds of people from Israel.

And there are a number of Australians of course, not to mention New Zealand. G'day, mate.

As I sit here now I realize that my customer base is from all over the world. And I find that I like it. It is really fun. My own ethnic heritage is very very mixed. I am northern European, but I don't think I can claim any one ethnicity as my own, other than maybe Chicagoan. (From Chicago, Illinois).  My mom is Canadian, and that makes me a Canadian Citizen as well. Canada is very easy on their foreign based citizens. They have never asked me to pay taxes, or even to report a single form to them. Nevertheless, I carry an American Passport. I am certainly an American, born here in the Chicago area.

When I was a child back in Chicago we were taught that the USA was a "melting pot" of ethnic heritages. This was the preferred terminology. This means that the American Culture has melted and formed out of all of the cultures of the peoples that came here before us. This even included the Native Americans obviously.

But tonight I was having my conversation with a fluent Cockney speaker so I decided to use my little bit of British knowledge. I was mostly having fun.

How does that go? Well, they know pharmacists as "Chemists". Emergency Rooms there are called "Casualty". The word Vitamins uses a soft i, like the word Bit, not like the word Bite. Vacations are "Holidays". There are a lot of other changes. When saying the letter Z, it does not rhyme with "Tea" or "Tee", but is Zed.

Now try to sing your ABC's with Zed instead of Zee.

I have found an ABC song on youtube. It is very interesting in that the child bear has a mild cockney accent, sings the zee as the zed, but the daddy bear speaks like he is from Philadelphia. Here it is.

http://www.youtube.com/watch?v=TGHidmEKU44

So, right there, is a little bit of the melting pot.

Thanks for reading my blog

I have a lot of other blog posts partially written.

Comments are welcome.

Doctor John Marcus MD
89 North Maple Ave
Ridgewood NJ 07450
USA

phone number 201-447-0077
fax 201-447-3560

blog is at http://doctorjohnmarcus.blogspot.com

Comments are welcome.

Saturday, November 2, 2013

AntiMullerian Hormone (or Mullerian Inhibiting Factor) 


I would like a share a story about the perils of believing that all that is new and modern is better. 

I have a patient who is about 42 years old. She had one child about 4 years old and she desperately wanted another. I took her through the basic infertility workup that I have described on these pages and we found that she had nearly run out of her supply of eggs. So try as she might, and push fertility meds as far as she can (Follistim, Perganol, Menotropin, Menopur, Repronex, urofollitropin, Gonal-F, Fertinex, and many more), she could not make her own good eggs or embryos. 

So for a woman such as her, all hope is not lost. Nowadays, she can still have a baby or babies. The problem becomes how does one get good eggs? What she frequently does, is she borrows them! What she does is, she finds an Egg Donor. The egg donor is usually a younger woman, who is willing to share her eggs with the other woman, the one who no longer has enough good ones of her own. Lets call this one the patient. Once the donor is selected and screened for an appropriate family history, and infections like HIV are ruled out, the donor is put into an IVF cycle. But the donor will not use her own eggs, she will give them away to the patient. The donor is usually paid for her time and effort, and risk, but I think the ethics of the transaction have to be that the eggs are not the purchased item. The eggs are given freely. 

The IVF specialist doctor will then give fertility medications to the donor, to deliberately hyper-stimulate (to a moderate degree), and make 10-25 eggs or so. Then the IVF specialist will retrieve the eggs from the donor. This involves some anesthesia, a sterile operating room, a sonogram to find the follicles, and a longish needle to aspirate the eggs. One egg from each follicle. A follicle is about 2.5 cm, a little less than an inch. But the egg is much smaller than a period at the end of a sentence. Then the IVF specialist will hand the eggs over to a specialist called an Embryologist, who will mix the egg with sperm from the patients husband (or whoever is selected to be the genetic father. Sometimes sperm donors are used as well). If the eggs cannot be penetrated by the sperm, the embryologist can force a sperm into the egg with a tiny needle. This is called Intracytoplasmic Sperm Injection, or ICSI. ICSI is very common nowadays. It is used, for instance, if the husband/father has only a few sperm to work with. Or if the sperm are weak. 

ICSI is well established, it works, and the babies seem to be fine. I have delivered a lot of ICSI babies, no problem. For awhile, the MFMs were worried about chromosomal damage, heart problems, growth problems, etc. The MFMs were scanning these babies up down and sideways, doing invasive amnios or amniocentesis to see the chromosomes, and ordering all of these babies to have cardiac echocardiograms. I guess that is what MFMs do. MFMs will reach to the ends of the earth to find ways to make sure that everything is ok. And if they don't know, they will order every test under the sun. I don't say this because I begrudge their skill, and they are a very valuable service. But sometimes their need to analyze really piles up to uncomfortable levels. I think part of my job as a compassionate physician and counselor is to explain to my patients what the odds are in any given set of stressful circumstances. This way, people can take control of their own risks and plans and hopes. Sometimes we just have to say no and stop the testing. And sometimes we just have to say that not knowing the science is different from knowing the science shows risk. 

In my practice all of the ICSI babies have seemed normal to me. 

Anyway, this 42 year old I was telling you about was really really careful and picked her egg donor from clear across the country. This way many things matched up just right. (height, color, eyes, intelligence, ethnicity, etc). The egg donor was an otherwise healthy 27 year old. She was going to fly to New Jersey when her follicles were just about ready to be aspirated for the eggs. 

But, there was a sudden fly in the ointment. Just before she started the egg stimulation cycle, it was found that her AMH was a bit low. Her Anti Mullerian Hormone. This implies that the donor was short of her own eggs. If the donor couldn't make eggs then the whole plan would fall apart, including the patients own hormonal preparations to accept the embryos in a few weeks. Since I don't do IVF, but I do counsel my patients to the best of my ability, my patient called my up in a seriously stressed out condition. She still was thinking clearly. But to cancel her preparations up to this point would have delayed her family another 4 to 6 months. And she would have to do all of this hard work all over again. 

Mind you, this patient is an extremely intelligent executive for a large successful corporation. She knew as much as anyone would about her entire story. She did not suffer from any kind of character flaws. She was psychologically very strong. 

So I reviewed the entire history with her. We knew that the young donor had no gynecological problems. By all the evidence other than AMH she was able to make normal eggs, and normal menstrual cycles. 

And when I looked at the scientific literature of various sorts around the value of the AMH test, it was said that the AMH test should not be used in an isolated manner, because it was not 100 percent reliable. 

But, wait a minute, they say that about all tests. No tests are 100 percent about anything. In something as complicated as human biology, there are no certainties about anything. (except maybe death and taxes). But I thought about it for awhile. 

Her IVF docs told her to cancel the cycle, as they don't like IVF failures. Why? Anything that throws their stats off will make the IVF docs look like buffoons when potential patients look up the ever present success rates that are published all over the place. Everyone, every potential patient, wants to go to the best IVF doctors, so they look up success rates and wants to get an appointment at the best place. If someone else is zero point eight percent lower in the success rates, then they are going to take their business to the best place. Which is elsewhere. 

So IVF docs hate failures, and hate anything that might affect their success rates. If any IVF docs have a tiny bit higher success rate than anyone else, and they are getting a lot of patients because of it, those IVF doctors are not going to advise any marginal cases to go forward with IVF. In other words, they will give IVF mostly to the people who need it the least, and avoid given IVF to the patients who need it the most. 

This leaves some patients dejected.  And many marginal cases that have some hope for IVF are turned away. 

This is, I suppose, an extension of the law of unintended consequences. When the powers that be forced the statistics out into the open, then the statistics became more important than the patients. And then some docs who provide IVF only to the easy cases, even to those who didn't even need it, became really busy. They formed giant clinics. The docs who did IVF only on young heathy women,  whe were nearly guaranteed a good result every time, had the best published statistics.  

There are some statistical methods that can tease out the success rates of the difficult cases from the easy ones, but the law of unintended consequences still holds. 

So anyway, I advised my patient to go ahead and continue the cycle with the young donor with the poor AMH. I figured the biggest loss would only be the money and the time if the one cycle failed. This would at most be a month. But...think about it... the gain would be a family maybe 5 months sooner that a cancelled cycle. And an isolated AMH doesn't mean that much anyway. I figured that statistics were 5 to 1 in my patients favor that the cycle would work, even with the low AMH. How could a healthy 27 year old donor suddenly run out of quality eggs? The statistics did not favor failure, even with the IVF clinic telling her to quit. 

Then a most beautiful thing happened...

She got pregnant with twins...

The pregancy was very eventful, with placenta previa, some bleeding, hypertension, some working bedrest, some hospitalizions, some bit of temporary gestational diabetes (due to steroids given to help the babies when they were threatening to come early), some meds to quiet the uterus, lots of MFM consultations (and using their excellent information with proper discretion to keep it real and simple), and big babies. 

Then... 38 week healthy full term, nice and big, twins. Born via a repeat C-Section, in an OR with big smiles, nice soul music playing, and a big team of very experienced support staff. 

I shared a story about the perils of believing that all that is new is better. 

What is the moral of the story?  

Don't let an isolated antimullerian hormone test wreck your life. Two beautiful living babies are proof of that. In fact, don't let any isolated test result wreck your life. 

And think about the young egg donor. She now has proven her eggs, and the worth of her ovaries. If the cycle was cancelled, she might have thrown away contraception, had an unwanted pregnancy, lost her life's partner for possible infertility, gone into a depressive spiral, or worse. Now she knows she is good and healthy. AMH be damned. 

Another even more important moral is that Statistics are Abused. Because the IVF programs are forced to divulge their stats, they become slave to the stats. And they will cancel cycles if there is even a 20 percent reduction in possible success for one woman. They live and die by the statistics numbers. Everyone does. If my patient did not call me, those babies would not have been born. 

Pretty soon Obstetricians are going to have their stats published. CS rates, mortality rates, etc. But since every obstetrician does things a little bit differently, they will be punished in what may be completely unexpected manners. And maybe rewarded unfairly. By the statistics that are misused. 

I would like my patients to retain freedom of choice. Freedom of C-Section or vaginal birth, for instance, who can take that away from them? I would not want to. I will do everything I can to make sure their decision is not only proper for them, and that they have thought about all the alternatives to what they have chosen, but I will also do what I can to support them to believe that their choice is valid, proper, and comfortable. 

So after an 18 hour labor and pushing a baby out, and a women is laying there with beautiful new baby on her chest, and she is all sweaty, and the nurses are cleaning up last nights dinner from her gown, and the floor is getting mopped up, and her vagina is sore from stitching, she will have the biggest smile of victory she has ever had. And the baby is in that comfortable spot that they love on top of her mom. Then, she will have known that it was all worth it. And she will have a megawatt smile and a beautiful relief. 

But, if she elected to have the baby the other way, because her own mother's life is wrecked by urinary incontinence and sexual disability, or her brother was strangled in labor and she can't bear the thought of it, and no one offered her mother a C-Section, or maybe she just didn't want to stretch her vagina out, then she can be confident that she will have her baby just the same. And she can be confident that her wishes were honored in a safe and caring manner. 

Who would take her ability to choose away? I would not willingly take that choice away. 

The statistics may be misinterpreted and the bean counters will get involved, and the politically active ones will get involved and make a ton of misinterpretations, and the world will change. 

I will do my part to keep it real, and honest, and proper. 

By the way, I have once again been elected to the position of Associate Director of  my Department of Ob/Gyn. It is my second stint in this position. 

In the past I have been elected or assigned to be the Associate Director, the Chairman of the Department, the Director of Education, the Director of the Oncology Committee, the department secretary, the treasurer, and who knows what else. I have also been the director of the Bergen County Medical Society. 

One of these days I will post my full CV. 

Thanks for reading. 

My blog is at http://doctorjohnmarcus.blogspot.com 

John W Marcus MD Ob/Gyn FACOG 
Obstetrics and Gynecology 
89 North Maple Ave 
Ridgewood NJ 07450 

Phone 201-447-0077 
Fax 201-447-3560  




Monday, September 30, 2013

I had a Light Schedule Today, and Pre Conception Counselling


I had a light schedule today. It was a real treat for me. My usual Monday hours are 1 pm to 8 pm.  Lately I have been very busy and I need to work hard to keep up with the work. I book a checkup or Ob visit every 15 minutes, with time off for lunch, and I schedule a new patient for 45 minutes. I think that should be plenty of time, but obviously if I discover a major problem, or if the patient really needs some help with some problem, that won't be enough time. Lately my hours have been very full. 

But today, there was plenty of time to speak to most of my patients. What that means is that I had more time to discuss things that are important to me. I had a new preconceptional patient and that was a lot of fun, talking about how to keep her and the baby safe during the pregnancy, and about the spiritual values of attempting a conception. As readers of my blog know, many people never get to experience the spiritual happiness and value of attempting a conception. Most people miss this opportunity because of inadequate contraception. All of their pregnancies are unplanned. The kids are still loved just as much, though, of course.

Today, one preconceptional  patient was a vegetarian, and she is trying to work her way up to being a vegan. We discussed the challenges of being a vegan while pregnant. It is certainly safe and possible to be pregnant and have a happy outcome as a vegan. I stress that the new moms must take particular care to eat from all of the food groups every day. Proteins she can get from beans, nuts, and lentils. She will get an extensive amount of vitamins, minerals, and fiber from the healthy vegetables. She should also try get some natural fats, such as olive oil or canola oil. She should never consume synthetic fats, such as margarine or shortening. And she should never consume saturated fats. Fortunately there aren't any vegetarian saturated fats, unless you count synthetic ones like margarine.

There will be two particular challenges do deal with as a pregnant vegan mom. One, she will need to get DHA. DHA is an essential (which means it must be consumed orally) fatty acid. It is one of the common omega 3 fatty acids. DHA makes human brains and eyes. Most women and humans get their DHA from fish or fish oil. A vegan obviously cannot. Fortunately, nature provides an answer for these new moms. DHA is available in algae. So pregnant women can get "vegan fish oil". It is marketed like that by the companies that provide it. Unfortunately, algae oil can get a bit expensive. It can cost 20 dollars a month, or much more if consumers are not careful where they get it. I usually recommend "Expecta" algae oil. It is made by one of the largest baby formula providers, Johnson and Johnson, a large and successful corporation with worldwide operations. The price for algae oil varies between 10 dollars and 200 dollars a month. The usual price seems to be about 16 dollars a month.

The second challenge that a vegan will have is getting her Probiotics. Probiotics are living bacterial cultures that are necessary to consume to keep a human in a healthy state of commensual life with the bacteria that live upon us. Bacteria actually outnumber our human cells by millions to one. This is because that bacteria are enormously smaller than human cells. Human cells are very large compared to the bacterial cells that live in our intestinal system and on our skin. There is no such thing as a sterile human, and a human would certainly not survive if he or she tried. The bacteria in and upon us are an important part of our immune system, our digestion, and our cleanliness. A person needs to get a sufficient amount of Probiotics in her diet in order to replace the ones that are lost inside of us due to natural loss, chemicals in our food, and antibiotics that we have to live around to maintain a normal state of sanitation. There are antibiotics in and on our food, in our toothpaste, and in and on our environment due to cleaning chemicals. We certainly cannot live without modern sanitation, so in cleaning up our environment aggressively, we are also altering our probiotic bacterial environment.  This is just a natural consequence of our modern life. We need to consume probiotics to replace what it missing.

Most people get their probiotics with Yogurt and communal living. Newborns get it from the mother and father, via the skin of the mothers nipples, and just being held and fed. Nobody really gets enough probiotics. We also get some from fresh uncooked vegetables, which are certainly not sterilized before we eat them.

I encourage my patients to get some yogurt, or, better yet, try a bit of Keffir every day. Keffir is a drinkable smoothie yogurt that originated in Russia. And it has been a tremendous improvement to the western diet. Vegans may object to the dairy source of Keffir. That is why I try to ask a vegan if they will allow a bit of dairy. And this hinges on why they are vegan to begin with. If they are vegan because they object to the treatment of dairy animals, then they cannot consume yogurt. If they are vegan because they are afraid of the cholesterol, then maybe I can try to get them to have some low-fat Keffir in their diet. Keffir is really yummy. I like the blueberry smoothie. It is about 3 dollars a quart. And it is a super probiotic. The ones that I buy, like Lifeway, claim to have 12 or more strains of acidophilus, or other probiotic organisms. It only takes a little bit to colonize our intestines. We don't have to drink the whole bottle every day. But if we did, the whole bottle is only 600 calories. So that is not so bad, if we had an attack of a Keffir binge. That would be infinitely preferable to a 32 ounce soda, or a big ice cream smoothie, which would have thousands of calories from the sugar and fat.

I also seen a woman, a surgical operating room nurse, come in with the dreaded postmenopausal bloating and cramping. There were tears in her eyes. On exam, the bloating and cramping came from her uterus and not her ovaries, which should be a tremendous relief for her. I ordered her a vaginal sonogram, an abdominal CT scan, an ovarian cancer screening test called an "OVA-1", and an Gastrointestinal specialist consult. The OVA-1 test is easily found on Google, for those interested in looking it up. It is far more advanced than the old CA125 test. My ordering of the OVA-1 test is slightly off label, because it is approved for the pre-operative workup of ovarian cysts. I warned her that false positives are common, and that I did not think she had any ovarian tumors, cysts, or problems. But her tears turned into a smile, knowing that the workup is well under way, and that her ovaries are likely ok.  Since she works at a local hospital, she won't be charged anything to get the tests done. I think she is going to be fine.

Altogether it was a great day.

Everyone should be fine.

Thank you sincerely,

John W Marcus MD FACOG
Obstetrics and Gynecology
89 North Maple Ave
Ridgewood, NJ 07450

Phone number 201-447-0077

Blog at doctorjohnmarcus.blogspot.com

Saturday, August 3, 2013

VBAC, and Bonding of new Dads


It is now Saturday morning, about 10:30 AM. I just finished doing a repeat Cesarean Section of a 38 year old woman at 39 weeks. Her last baby was born by a different Ob. For her first baby she labored for days, eventually the labor obstructed, and she even got a fever. Then she got a section. That kind of a labor, with obstruction, and eventually infection, really stresses the mother and her baby. The risks to the mother and the baby increases over time. If those risks are not mediated and managed, then eventually there will be a catastrophic outcome. In those situations, the Cesarean is lifesaving for both her and her baby. And, it will likely save the baby from terrible brain damage or something awful if the infection is unchecked. If the labor obstructs beyond reason, then she would have had what we call a "neglected labor". These are deadly. Neglected labors still happen around the globe. We must all work towards a just and compassionate world where every human being is allowed a safe birth. Fortunately, around here, neglected labors are rare. They show up once in a while though. Usually it is a women who makes an ill advised attempt at a home birth, using incompetent assistants.  This might might be an untrained or unlicensed midwife. Or, someone who has no midwife at all. Last year I met a mom of a quadriplegic baby who attempted an unsuccessful and ultimately traumatic home birth. It was tragic. This happened in the next town over.

My patient this morning recovered from her prior labor and section just fine. Even though she was quite tired. I believe that her prior care was provided in a competent and timely manner, she received her antibiotics, and everyone was happy in the end. The problem was that the labor obstructed. One will never know if a labor is destined to obstruct, unless one tries to labor. Sometimes a malpresentation can make the obstruction obvious even before the labor begins, such as a transverse or sideways baby.

So at the beginning of this pregnancy, we had a discussion about the possibility of attempting another labor. I discussed with her the possibilities, and under what conditions it might be safe enough to try for a Vaginal Birth After Cesarean, a VBAC. VBACs are still allowed by the medical establishment. The risks are well known. About one in 300 uteri will actually rupture open in labor, through the old CS incision. This can permanently injure or kill that baby, and/or the new mom. VBACs can only be conducted by a hospital and medical team that is available for "Immediate" surgical intervention. With immediate intervention, most of these new moms and their babies can be saved from a uterine rupture. VBACs can only be conducted if the labor seems medically "easy". That means there is no sign of obstruction, the labor starts naturally, and it progresses well. Without that, the new mom must have a repeat CS.

Our hospital and my practice does provide this level of care. To maintain this level of care, we need an obstetrician on the OB unit, at all times ready to go. I personally volunteer to take my shifts on the OB unit to provide this care. We also need an operating room open and usable at all times. We need an anesthesia provider always available. We need nursing staff ready, able, competent, and confident enough to intervene at a moments notice when the signs of uterine rupture are present. Many, if not most, hospitals, do not have such depth of resources. And, even more importantly, the skill set of all the involved personnel must stay fresh. A hospital that delivers one baby a day may see a uterine rupture once a decade. Or never, if VBACs are not allowed. A hospital that delivers 10 babies a day, with a big high risk population, will see it routinely.  I have personally saved more than a few babies from abrupted placentas, uterine ruptures, knotted umbilical cords, and other various catastrophes. It feels really really good to save a life. I have a wonderfully rewarding life and I am very very glad to be here doing what I do.

Anyway, this morning, we had a 39 week mom, of advanced maternal age, with no sign of labor, and some risks if she did. The baby was biggish, in the 8 pound range, close to 4 kilograms, and the baby remained very high out of the pelvis. We both chose to repeat the CS and get the baby out while the baby is good. Other women might want to keep trying for a vaginal birth, to give it a few more days or weeks. If she understood the risks then of course we would honor her request for more time. If she understood and wanted her baby out now, by CS, then of course we can do that too.

Typically I don't provide a "take it or leave it" approach. I tell the woman and husband what I think. I give them my recommendations, and my thoughts, and my estimate of odds, and I let them come to the conclusion that is best for them. Almost always, people are happy to think these thoughts. Sometimes, they really ask penetrating questions about what I think they really should do. If they ask like that, I go back and review what I think might make them the happiest, I might review the risks either way, and tell them what I think. Sometimes it is a section, sometimes it is to wait.  But the time crunch is always a problem. Usually, I wish I had more time to do these things. I do my best to allocate enough time. There is never enough time.

So I was doing a CS about 8:45 this morning and everything is going well, and we are listening to nice music, and the baby seems really happy, and the mom is smiling while we are working. I noticed that the new Father is really bonding well with his new baby. He is holding the baby close, talking to her, getting to know her really well, and looks super comfortable. I had him hold the baby up to the mom for a kiss. All together, it took about 30 minutes to do the whole delivery.

What struck me was that the new Father was the big winner here. Here he is, holding his baby nicely, and getting a whole lot of new baby time, even before the mother gets the baby. In a vaginal birth, the mom gets the baby. We do "skin to skin" now, so the baby gets delivered right onto the mom. She holds the baby. We hope to give them an hour of bonding. It seems to me that the babies like it a lot more. The babies seem much more peaceful with their mom. The babies know that dinner is but one mouthful away, in the beautiful way that babies find the nipple and nurse. But in a Section delivery, the new Daddy gets most of the baby time. I asked him to remember this moment and this day. Because I still remember my babies in my arms when they were born. That is how I think of my babies, really little, in my arms. In most C-Sections, the new Daddy gets to hold the baby for a prolonged period of time.

I am certain that this is a positive and wholesome experience for the new Daddy and his baby. He loves his baby with Agape, which means unconditionally and forever. And that bond is unusually strengthened to a great degree when he can hold his new baby like this.

It is really beautiful to watch that bond strengthen in the delivery room.

Thank you sincerely,

Dr John W Marcus MD 
Board Certified Obstetrics and Gynecology 

89 North Maple Ave
Ridgewood NJ 07450

Phone 201-447-0077
Fax     201-447-3560

Blog at https://doctorjohnmarcus.blogspot.com/

Monday, February 25, 2013

Human Genetics Analysis


Every day in the office I deal with the issues involved in human genetics. Making a human baby involves the union of the genetics of a mother and a father. A man and a women. Benjamin Franklin (one of the American Founding Fathers) used to like to say that only two things in life are certain. They were, in order of importance, Death and Taxes. Americans repeat that phrase often. We usually say it fast without any pause in between.  I would add that there are a few other certain things in life. At the beginning of life, there is Birth. One cannot have a death without having a birth. There is a Franklindian certainty (of the Death and Taxes type) that a human being must have one genetic mother, to be born. One mother must provide the genetics. Every person who is born has one genetic mother.

Similarly, every human that is born has a genetic father. 

What are genes? They are the information storage system of all known life. The DNA system is astonishingly the same for all known life. The Scientists Watson and Crick received a Nobel prize for discovering that the genes live on a helical molecule called DNA. Deoxyribonucleic Acid.  They discovered it in the 1950's.  A normal structure of the DNA molecules in a living human cell is for each of these molecules to be coiled up into Chromosomes. An uncoiled DNA molecule is several meters long. Coiled up, 46 of them fit into the nucleus of a cell, and the chromosomes are millions of times shorter. Chromosomes are easily visible under a microscope. I see pictures of actual human baby chromosomes all the time. This is the end result of a genetic amniocentesis. A normal cell has exactly 46 chromosomes. 23 chromosomes come from the mother, via her egg, and 23 from the father, via his sperm. The woman always contributes 23 chromosomes. Since every women (and human) has 23 pairs, or 46 total, every egg has to choose one of the pair of each 23 pairs. This has some astonishing statistical implications. For instance, each woman can make 2 to the 23rd power different kinds of human eggs. No more, and no less (unless there is chromosomal "pathology"). 2 to the 23rd is 8,388,608 different kinds of human eggs for each woman. Each human woman is born with about 300,000 human eggs. They are created before she is born, and she will create no more during her life. Statistically speaking, every one of those 300,000 eggs is completely different, genetically and chromosomally unique. The odds of any two eggs having the same chromosomal material is about one in 8.4 million. The odds of there being two identical eggs in a woman, out of her whole complement of 300,000, is about one in 28. This is 8.4 million divided by 300,000. 

The statistics for sperm are exactly the same, but for the fact that men make trillions of sperm throughout their life. But they can only make 8,388,608 different kinds of sperm.  

How many different kinds of human siblings can a specific man and women make? This is an easy statistic. It is, choose one of the different kinds of eggs, and choose one of the different kinds of sperm. The math is 8,388,608 times 8,388,608. Equivalently, 8,388,608 squared. This equals 70,368,744,177,664. Not one more or one less. Lets just call it 70 trillion. So a couple would have to have about 35 trillion children before they had a 50 percent chance of having genetically identical children. Obviously identical twins are much more common than that. The reason there are more identical twins is because the human embryo sometimes splits into two or more, before the third day of conceptional life.  

Therefore, chromosomally speaking, it is vanishingly unlikely that any two humans have anywhere near the same identical chromosomes, unless they are identical twins. 

And unrelated humans have even less likelihood of having common DNA. 

If a single family can make 70 trillion different kinds of offspring, then how many genetically different kinds of humans can be made? It boggles the mind. 

There are a lot more interesting genetic facts and conclusions. 

Lets get started with some more interesting analysis. 

Everyone has two of the first chromosome, called chromosome number one. It is the largest chromosome, so it contributes a lot of genetic material. Everyone gets one from their father, and one from their mother. The one they got from their mother is a genetic identical copy of her mother's. And the other is an identical copy of their father's first chromosome. Her mother got one from her mother. And her mother got a perfect copy from her mother. And so on and so on. The only changes that exist are "mutations". Mutations are spontaneous changes in genetic material that happen when a child gets a different chromosome that their parent had. Mutations happen because of an error in the copying mechanism that creates cell division. They might happen, for instance, when a gamma ray hits the chromosome and changes it. Or when the wrong biological molecule gets stuck in the copying machine. 

Mutations happen at a statistically predictable rate. Most mutations are "bad", but some are favorable. Mutations are important because they are one source of genetic evolution. The other, more important source, is simply which chromosomal rearrangements of the 70 trillion possible, are "better"? Which one makes a human smarter, bigger, stronger, more resistant to disease, etc? Which one will survive, and therefore survive long enough to make even better children? 

Because we know how many mutations there seem to be, we can extrapolate backwards in time to a genetic "Adam and Eve", that was the first set of humans. Genetics professors have done this, and have decided that the first human tribe consisted of about 40 human females, or "Eves", and they existed about 200,000 to 250,000 years ago. Most likely this tribe was in North Africa, and spread out from there. Since then the human species has grown in number. Most of the growth is recent. There have been about 120,000,000,000 humans born since then. 120 billion. The reason I say Eves and not Adams, is that it is easier to do these statistics with women, because of some genetic implications of the mitochondrial DNA, which is a different set of DNA, and only comes from the mother. 

A similar analysis has been done with the "Y" chromosome, that only comes from fathers, and the fathers father, and his father, and so one. 

The fossil record, and anthropology, is consistent with the human species being this old. All of recorded history begins about 8000 years ago. But we know that modern human culture, with words, art, tribe hunting, of large and dangerous game, and oral histories, began at least 50,000 years ago. 

Anyway, I was looking at a photograph of human chromosomes today, with a new patient to the practice, and she had a bunch of really interesting questions to ask. She had already had a genetic amnio, and this was the report on the baby. The baby had normal looking chromosomes. The baby had 23 pairs of human chromosomes, labelled 1 to 22. All of them looked normal. There were two X chromosomes, and no Y chromosomes, so we knew it was a girl. 

One of the most common abnormalities of the amnio result is a triplication of the 21st chromosome. This is the second smallest chromosome. Somehow, when a sperm or egg is created, the chormosome sorting machinery goes awry. This means an egg or a sperm gets an extra chromosome This means that this human fetus would have trisomy 21, or Down's syndrome. Down's is quite common. It is not a mutation. A 35 year old women has a one in 300 chance of having a Down's baby. A 40 year old has about a one in 30 chance. It is much more common as a women gets older. 

There are trisomies of all the chromosomes. Most are incompatible with human life, and never create pregnancies. Trisomy 21 is  one exception in that these pregnancies create a human with Down's syndrome. Trisomy 13 and 18 do create pregnancies, but the fetuses never survive more than a few days of life, if they even get to full term. They are highly abnormal. On the other hand Trisomy of the X chromosome is much less abnormal. In a female with an extra X chromosome, she is completely normal. It will likely even never get diagnosed. Even her children will likely be normal. Men with an extra X are called Klinefelters. They are tall, they are tend to have weak muscles, they may have an emotionally tough puberty, and they don't make sperm. So they cannot have their own children. Trisomy of the Y is called XYY. These are normal males. The teaching used to be that these boys were troublemakers, had high testosterone, and wound up in prison a lot. More modern thinking is that they are about 3 inches taller than usual, and about 5 IQ points smarter than average. They are basically normal people, like the XXX females are normal. 

Finally, I would like to say that that the scientific quantity of knowledge in the field of genetics is exploding. There is so much to know about genetics analysis of individuals, and their children, and the means of inheritance, that it is literally impossible to keep up with current knowledge, recommendations, and the science. I have spoken with our genetics consultants, and I am continually surprised by the new genetics testing that is possible. And these possibilities continue to expand. The geneticists themselves have to frequently hit the books to figure out any individual case. 

Myself, I frequently refer to geneticists because there is just too much to know. 

There are a couple of advancements to note, though: 

About 1990, the US Federal Government funded the genetic sequencing of an individual. The cost to do this was about 3 billion dollars. The wikipedia page is here: http://en.wikipedia.org/wiki/Human_Genome_Project 
The first draft of the genome was printed about the year 2001. 

Now, the cost to do the sequencing continues to decrease. 

There is a report of a company that can do an individual's sequencing using "system on a chip" technology borrowed from the computer industry. This company claims to be able to entirely sequence a human for about a thousand dollars. I reported about this in a prior blog post. 

Right now it costs my patients, or their insurance companies, about 3 or 4 thousand dollars to test for a few breast cancer genes. Do the math and you will  see that the cost of genetics analysis will continue to plummet over the next few years. 

Also, the Genetic Amniocentesis may be going to way of the dodo bird. I mean, it may be going extinct. Or, it is going to become increasingly rare, and used only at the end stage of a diagnostic workup. Women hate doing the amnio because it pokes a needle very near their baby. And it has a miscarriage risk quoted to be somewhere between one in 300 and one in 1500. Nowadays, I can order a simple blood test that can tell me if the pregnancy has a trisomy 13, 18, or 21.  These are the most useful trisomies to test for. The one that I do in my office is the Materna T-21 test. I recently ordered it for a pregnant women who was found to have a downs risk of about 1 in 350. In the past, this women would have faced a very difficult choice between risking the amnio, with it's inherent risks, or risking the Down's, with a risk of about one in 350. Technically, her Downs risk was completely normal, because we don't call it elevated risk until the risk is about one in 300 or more. But, in this day and age, where a common Down's syndrome risk assessment is one out of a quarter million, I don't see how couples are going to be happy living with a risk of Down's of one in 350 when I can do a noninvasive nearly risk free amnio alternative. 

We can only hope that the insurance companies will pay for the noninvasive modern T21 style tests. I think they will ultimately come along and pay for it, but it will take some time and work to convince them. 

Thank you for reading my blogs. Comments are very welcome. 

Dr John W Marcus MD FACOG PC 

89 North Maple Ave 
Ridgewood, NJ 07450 

Phone 201-447-0077 
Fax    201-447-3560 
Blog at : Http://doctorjohnmarcus.blogspot.com/ 

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