Antenatal Genetic Testing

When I bring up the subject of antenatal genetic testing, most of my patients don’t even bat an eye: it’s just what you do nowadays. Of course you want to know as much about your unborn and developing baby as possible! But there are some -just a few- who look at me suspiciously, searching for a reason I suggested it on their first visit. Do I suspect something is not quite right? Are they high risk? I can see the questions on their faces before they answer. The woman will look at her husband with a worried expression, and he will stare down at his shoes. The real question they are struggling with is: What will we do if the test comes out abnormal? Will we terminate the pregnancy -or perhaps even more troubling- will we have to?

No, I don’t think they fear some legal or medical attempt at coercion for termination. I suspect some of them had not even  considered the possibility of an abnormal fetus. Why would they? After all, does one consider the possibility of an accident every time one gets in a car? Or crosses the street..? It is, in other words, a surprise that anyone would confront them with the risks. It’s supposed to be a happy time, a new life, a new journey. I think that what many of them fear is the unspoken assumption that if there is an abnormality, they will want to terminate: an expectation, not a requirement.

Societal expectations are stronger than we realize. It’s often only when we dare to run contrary to them that we feel the strength of the current. Try shopping in a grocery store with a wheelbarrow rather than the supplied shopping cart, or maybe less fancifully, showing up at an expensive restaurant wearing a tee-shirt. You can do either of these things without getting arrested, but would you? Would you whistle at the symphony? Society’s pressures may be subtle, but they are compelling; we are supposed to know what to do and then do it.

There are other pressures to conform that are sometimes even more difficult to spot. A recent study in one of my medical journals looked at how information for patients with abnormal genetic screening (blood tests, ultrasounds, or amniocentesis) was presented. Discussions about Down Syndrome in literature handed out to patients undergoing genetic screening, for example, were purportedly neutral to allow for untainted management choice options. But the information stressed the problems the Down syndrome child would encounter and the problems the parents would confront rather than -and not balanced by, say, the joys any parent might expect raising such a child -any child. At first glance, this seems beyond reproach: the parents need to know what to expect. And yet, if you read a pamphlet on a car you were considering purchasing, and it merely talked of its problems, what’s the chance you’d turn it down and look elsewhere?

Objectively considered, antenatal testing for all of its advantages, could be seen as a type of Eugenics process. Don’t get me wrong, I’m totally Pro Choice: the couple -the woman– should have the right of choice and no one else! And yet I’m struck by the attitude of many in the profession who seem to assume that antenatal screening is there to assure the parents of a good product. And if what it finds is something different -note the word different, as opposed to substandard, or even defective- well then… We are doctors and by definition we deal with health problems -illness, pain, suffering- and we see the world in those terms. It is hard to put that prejudice aside in counselling as much as we might wish. We, too, are affected by the societal currents. Just look at the difficulty we have -we all have- in dealing with expectations or even medical practice models in other cultures less like our own.

And it is difficult to transcend these, try as we might. We are the creations of our own society and its customs and expectations. We are what we have been accustomed to believe, and non-believers often seem odd, even alien. More often, however, we see them as simply being wrong and assume they need to be corrected. Or we convey in our words or expressions that it is their values that are at fault. And yet all choices are value-laden -even ours.

I don’t know that we can ever shed our cultural -our societal- heritage nor that we should even consider this necessary. But a heritage is a wealth of accumulated -and accumulating- customs, values and opinions. It is an ever-expanding, ever-changing treasure that defines who we are and what we think. It is never static, never ossified; and like a parent, should be open-armed, forgiving, and all-encompassing. It is how I would like to counsel those parents before they even receive their results -before they even decide whether or not to be tested.

In a way, it is me that is being tested.


Forceps seem to be controversial in some quarters. To be clear, I don’t find them at all controversial nor do my patients by and large. But I realize that for some, forceps are the standard bearers for all that is intrusive and perhaps malevolent in obstetrics. Everybody seems to have an aunt or second cousin somewhere that has had a bad experience with them, so I have had several requests from readers to comment on the use and abuse of forceps. I speak only from my own experience, naturally, and am not suggesting that everybody would agree with me. Speak to your own doctor if you are confused.

First of all, a little background. When labour has been hard and perhaps slow, and the baby’s head has not descended along the vagina despite a completely dilated cervix, prolonged pushing, and the passage of time, decisions have to be made. There are several options -there are always options… First, one could continue to observe and see whether progress occurs. There might be problems with this approach of course: maternal fatigue, increased swelling of the tissues around the opening of the vagina that would be more likely to tear as the head and body of the baby pass through, and the fact that the mother has likely been pushing for a considerable time already with no progress. But, as long as there are no other contraindications to waiting -like an abnormal fetal heart rate pattern, or maternal fever, to name but two- it is still an option the couple may wish to choose.

A second option is to do a Caesarian section. There is nothing wrong with this option of course, but for many people surgery is something they would rather avoid unless absolutely necessary. If the baby is in trouble, few would argue -including me. But often things are not so clear-cut: the baby ‘s heart pattern on the monitor is normal, the woman is exhausted, but not ill, and she is frustrated at the lack of progress. She wants her baby -ideally with minimal fuss, and soon.

A third option presents itself: helping the baby to come out, but vaginally. This assumes that the baby’s head is low enough and likely to fit through the vagina of course -in other words, deliverable but not so far. And there are two choices for this: vacuum and forceps. Vacuum first. There are several types of vacuum currently available and all work on the principle of a suction cup on the baby’s scalp. Common sense suggests the method is only applicable to situations where the head is so low that pulling on the skin of the head would be likely to make a difference. To be honest, I do not like the method, but I concede that  in untrained hands, it is probably the safer of the two choices because the vacuum usually is not strong enough to do much damage -i.e. the suction cup comes off if you pull too hard.

But if the head is a little further up inside the vaginal canal, and the mother has been unable to push it further using both the contractions and her own expulsive efforts, vacuum isn’t likely going to work either. Here’s where forceps might be useful.

A word about forceps. No, they are not like salad tongs that work by squeezing to gain their traction, and certainly not like vice-grips. Properly applied and skillfully employed, they work more like a helmet that forms a dilating wedge in front of the head to help it to travel along the vaginal canal. Yes, they make contact with the head -so does a helmet- and yes, traction is applied by the obstetrician, but only in conjunction with a uterine contraction and active pushing by the mother. A dilating wedge requires traction to open the way for the head and the head has to follow in close proximity to the wedge…

But there are many different types, shapes and sizes of forceps. Without getting into the names and the multiple conditions for each type, let me say that there are several basic requirements that need to be considered before, during and after the use of forceps. First of all, the head has to be low enough in the vagina to apply the forceps; secondly the blades of the forceps should be thin -after all they have to fit between the head and the skin of the vagina without injury; and thirdly, the shank of the forceps should be narrow so that undo pressure is not exerted on the vaginal opening until the head actually reaches it.

At that point -when the head is ‘crowning’- the forceps can be removed and the woman deliver the baby on her own. The dilating wedge has succeeded; the head is where the woman was trying to get it in the first place with all her pushing. There are many techniques, of course, but I do not do an episiotomy with forceps -or any time, for that matter (unless there is a dire emergency). By taking off the forceps in a timely fashion, damage to the area is minimized and likely equivalent to what the head would cause had the mother been able to deliver it on her own and without help. Even without the episiotomy, patience and allowing the tissues to stretch as the head begins to emerge from the vagina allows for deliveries that are well tolerated by both mom and baby -often without stitches, often without tears.

I’ve only scratched the surface of the topic of forceps I realize; I just wanted to introduce the idea and perhaps clarify it a little for further and hopefully less passionate discussion. The use of forceps, like much of medicine, requires practice and skill, not to mention judgement and knowledgeable consent from patient and partner. They are only one tool in a box of many tools, but one that is extremely useful and also safe -in the right hands.


I don’t want the title to imply that I am some sort of expert on pain; I am, like most people, pain averse. I do not necessarily understand pain; I see it in others and assume it has similar characteristics in common with what I experience and so I avoid it whenever feasible. I understand when others have a similar response. Some less charitable souls might characterize this as cowardice, but I suspect pain is something that the majority of us would not willingly endure if at all possible.

I would like to separate the concepts of pain and suffering, however. They are not at all the same. Cassell in his 1991 book The Nature of  Suffering, talks of people reporting ‘suffering from pain when they feel out of control, when the pain is overwhelming, when the source of the pain is unknown, when the meaning of pain is dire, or when the pain is apparently without end.’ He goes on to suggest that ‘In these situations [that is, when they suffer] persons perceive pain as a threat to their continued existence -not merely to their lives but their integrity as persons.’  Further, that ‘suffering has a temporal element. For a situation to be a source of suffering, it must influence the person’s perception of future events.’ And so, ‘suffering would not exist in the absence of the future.’ Yes it is still pain of course, but it has different meanings, different attributes, in different situations and those in turn are influenced by what the person may have experienced in the past. Expectations rule.

And as a physician these expectations that are engendered by past experiences are important. Not only do they influence how I interact with my patients, they often dictate how those interactions are interpreted: the meaning they assign to the pain, and that I assign to the pain. Take the pain of labour as an example. It is very likely one of the most severe pains the average woman will endure in her lifetime. It comes wrapped in culture, past experiences of other pains -or past labours for that matter- expectations, and even self-image. As Cassell again observes, ‘Events of the present can be checked against the past, and events of the past contribute to the meanings assigned to present happenings.’ As a physician -as another person- I can only guess how the experience might be construed in the situation. And that guess is often based on such things as body language, stated preferences, previously expressed preferences and so on. My interpretation, of course.

So should I -or the nurse, the midwife or the doula- assume suffering and act on what is externally presented? And even if there is no suffering, should that alter the decision? Should we, that is, assume we are somehow able to read the internal mental status of the woman and yet act objectively enough to react to her anguish in a thoughtful and appropriate fashion? Should all pain be eliminated regardless of its meaning to the person? Regardless of the possible effects on the labour, the woman, or the context in which she finds herself inextricably embedded? Or is even thinking like this merely subterfuge: insensitivity to the situation, the woman, the need? Am I, who could not possibly be immersed in the same intensity of experience, projecting my prejudice, my reading of cultural demands, -my male viewpoint- on her? My meaning?

It is something I have struggled with -and indeed all others interacting with those in labour have encountered- all my professional life. I do not live in another’s body, nor am I privy to her past and lived experiences. I cannot presume to know the answers. Indeed the answers are more like contextually based questions that are impossible to phrase. I suppose an important guiding principle is contained in our Hippocratic oath: Primum non nocere -most importantly, do no harm. And even this is simplistic: how do I know it is not harming the situation? Simply that I don’t injure her or the baby? If I somehow caused the need for a Caesarian Section because of, say, an inappropriate timing or type of analgesia, is that non nocere? Or if I convinced her that she would indeed benefit from an epidural for her pain, and so took away her feeling of self-control, or the image that she had set for herself -that her mother had set for herself, maybe- would that  constitute non nocere even though both mom and baby got through the labour relatively unscathed?

I suspect I would have thought I knew the answer when I was younger, when I at last escaped from medical school and my interminable residency program, when I first started in practice as an academically sound, yet experientially naive individual. I knew an answer, of course. Now I am no longer certain I ever knew anything other than what I was taught. But the answer? I don’t think so. I’m not sure I ever will.

Health care is one thing,  access to health care is another. There are many barriers to its acquisition: in some countries it is money, in others,availability of services. But for most non life-threatening health care needs, an underlying problem in all I would suspect, is fear. Not so much fear for safety as a feeling of unease: is what I have serious, will the doctor think I’m wasting his time, will he actually listen to me? So much of who we are -who we think we are- is bound up in our relationships and encounters with others. The medical visit is no different.

Illness, however serious, is still an article of clothing we wear. No matter how much of us it covers, no matter how it weighs us down, it is still we who wear it, we who peek out through the folds. It is important therefore that we meet with acceptance and respect when we finally bare ourselves enough to seek advice.

Cultural safety is one aspect of it. We are less likely to seek help if we feel that our views -cultural or otherwise- will meet with derision or condescension. I’ve always felt that my own specialty -certainly  the obstetrics side of it- is very much like the United Nations. It’s hard to miss the obvious; there’s a common theme that runs through my day; no matter the culture, the background, the social stratum, we all want the same things: our families to be happy, healthy and safe. We want that for ourselves as well. I would think it would be difficult to be prejudiced and a good obstetrician at the same time. I often learn more from my patients than they ever learn from me.

But along with the grateful acceptance of our superficial differences, I think there are other things that make the medical encounter more comfortable, less stressful. The waiting room for example. A picture on the wall, a plant in the corner, or even a carpet on the floor may seem trivial and unnecessary -I suppose they are- but they go a long way to helping the person seeking help feel less like they are about to visit a stethoscope and more that there may be a human in the other room. I realize that the physical constraints of an office impose many limits on the ability to make it look more appealing, but if you lived in that space -and most doctors do for the majority of the week- would you leave it bare and tasteless? Does it really have to look like a holding area, a resting place in a mall? A waiting room says a lot about who the patient is about to see. It can alter expectations.

If ambience is important in a waiting room, it is even more critical in the office. That is where secrets are told, trust is engendered, rapport is established. For new patients especially, what they see is what they judge. They haven’t met you yet, and they are both nervous and fearful. Putting them at their ease is part of establishing a meaningful contact, part of teasing a story out of them, part of actually helping them. It is not the Emergency Department where symptoms speak louder than words, and the diagnosis is often enabled by a wordless glance or an expressionless examination of a person lying on a bed. I’m certainly not suggesting than compassion and rapport are not important under those circumstances because they always are, but merely that the severity of symptoms and the urgency of need is often different in an office.  The approach is usually slower, more gradual -more dependent on mutual understanding and trust. The doctor is more able to explore the issues that surround the need for the visit, as much as the concern itself. He is, in short, more able to talk to the patient, understand her, listen to her -according her the respect and dignity she expects and needs from a health care encounter. It is never easy to confide in a stranger, let alone trust him with personal and often embarrassing problems. But a non-threatening environment may help to ease the transition in an otherwise awkward and frightening meeting.

I realize that considering the venue where health care is administered may seem trivial, but for some it may prove to be the difference between feeling comfortable with seeking help, and deciding to wait until it is truly an emergency. That comfort level takes time. It has to be earned and friends need to be consulted about their experiences. Many important things depend on the word of mouth: reputation, trustworthiness, honesty… and maybe health care utilization.

Health care is…


Do we expect too much Health? Or perhaps less controversially, do we expect too much of Health? Are our expectations realistic or even attainable? Do we really know what Health is -or for that matter, is not? It’s an important point and one that should not be dismissed as mere academic quibbling. Perhaps, to paraphrase St. Thomas Aquinas, we all know what Health is until we are asked to define it.

Should we, for example, define it as an absence -an absence of illness, for example? Or maybe suffering? If that sounds too tautological, how about defining it as something positive: say the presence of well-being or -god forbid we stray into this- even happiness, contentment, or comfort?

But unfortunately, the concept of Health has strayed for a lot of us. In many respects, we equate good health with the absence of discomfort in our bodies – and for some, any discomfort. That we should have to think about our bodies in any way other than that they are ready and able to perform -or at the very least, potentially capable- is disconcerting and disappointing: unhealthy. That there should exist constraints such as pain or weakness may therefore be construed as unacceptable.

An extreme view? Well, consider a patient I saw for consultation recently. She had come in complaining of fatigue before her menses -a symptom certainly worthy of investigation, I think. Anemia, some form of menstrual dysphoria, or possibly even stress came to mind immediately as possible villains, but I was not unmindful of other, more serious conditions for which fatigue could be a herald. So, after taking what I hoped was a thorough history and completing a detailed physical examination to provide me with further clues, we went back into my office so we could discuss things.

“So what do you think, doctor?” she asked, her eyes locked on mine.

“Well, fortunately the physical examination was reassuring – I couldn’t find anything wrong…”

“But there must be something wrong, doctor. Something has to be causing the fatigue!”

I thought about it for a moment. “You say your periods are not particularly heavy; they’re not painful; they’re on time each month… You’ve always felt tired before your menses, and you feel well otherwise…”

“But doctor,” she almost shouted at me, “It’s not healthy to be tired before your periods. None of my girlfriends are…”

I started to write something on a form and looked up at her. “So, I’m going to order some blood tests and…”

She rolled her eyes and straightened up in her chair. “My GP has been ordering blood tests for years now and they never show anything. I want to know what you’re going to do about it.”

I could tell she was about to leave. “What are you afraid might be going on with your body?” I asked, thinking she might have some fear of cancer, or disease in her mind. But there was no family history of any cancers or heart disease and they were all still living, well into their late sixties. And for her, there had been no personal, sexual, or relationship problems that I had been able to elicit in taking her history. I was truly perplexed.

“That’s what I came to you to find out, doctor,” she answered with a stare, almost spitting out the word ‘doctor’. “You doctors are so busy trying to cure disease, you have no idea what Health is.” And then she walked out.

And you know, maybe she was right. Maybe we do define Health in the negative: an absence of things that shouldn’t be there. Or even use a ‘Be thankful it’s not worse’ approach. But I’m not sure she’s on the right track either. Surely Health is a more relative, a more consequential construct. Maybe it’s simply the condition that allows us the freedom not to think about it, worry about it. Maybe it’s neither a positive nor a negative concept. It’s something that’s there only when we don’t question it -something that, if it were not there, would have consequences.

But more than that, it must be a relative condition as well. If you break a leg and then are eventually able to walk again, albeit with a limp, you are probably healthy even though things are not like they used to be. So Health is not necessarily an absolute phenomenon either -something that withstands comparisons with others.

Clearly there are subjective and objective components to consider, and neither have an unassailable priority. Health is what we want it to be, and that’s going to vary depending on who’s considering it. We may never come to consensus. And yet I think there is considerable merit in trying anyway -attempting to look at it from both perspectives at the same time. Health is surely the ability to carry on with our lives with minimal impediments, minimal distress, and minimal need to wonder whether we can.

Minimal is approximate as well as contingent of course, but it does not mean zero.