Cleft lift and cleft palate – the causes known so far and the difficulty of the diagnosis

Prof. Dr. Hakan Ağır - an ACIBADEM expert and a world-renowned plastic and reconstructive surgeon - is famous especially for the hundreds of cases of cleft surgeries he has performed during his career. In the following material, the doctor speaks about these diagnoses that may frighten families: the cleft lift and the cleft palate. More precisely he enumerates the known causes of these diseases, and he emphasizes the importance of an early diagnosis.

Professor Ağır, what are the most frequent congenital diseases that you operate on children? What are their causes and when are they diagnosed?

Prof. Dr. Hakan Ağır: The most frequent congenital disease or deformity or anomaly I operate on children, babies or infants, is the cleft-lip palate and other associated abnormalities or related abnormalities in the face and neck. This is followed by lumps in the face and neck, like vascular-originated masses, in other words, tumors. These congenital anomalies are mostly related to genetic factors. 15% of these are syndromic, severe cases, while there is a 20-25% of familial tendency. And in 50-60% we can't exactly define the mechanism or the cause of the underlining mechanism, it is mostly genetic, during the embryological life. Most of these facial deformities could be diagnosed at the end of the first trimester or in the first half of the second trimester. Of course, this depends on the experience of the ultrasonographist or the perinatologist and the quality of the ultrasonography device they are using.

Can we also diagnose these diseases in pregnancy through non-invasive prenatal testing (NIPT), the ones that require only blood samples like the Nifty test?

Prof. Dr. Hakan Ağır: No. Currently, there is no blood tests showing us the tendency or anything like that, giving you the diagnosis. In pregnancy, for some particular syndromes, which have a cleft-lip palate as a component, you can use the amniocentesis fluid or the villi or the placenta biopsy, but this is very rare, it's not routine.

Is it better to diagnose these diseases during pregnancy than after birth?

Prof. Dr. Hakan Ağır: Absolutely. And if you diagnose it, 100% sure, you must tell the patient about this diagnosis, even if it’s just called a suspicion. In my country, Turkey, for example, the doctor is not obliged by law to identify it in the ultrasound exams – it’s not easy to actually diagnose it – and to notify the parent(s). So, if the patient learns it after the birth, he can't sue the obstetrician because they misdiagnosed. But it's better if they diagnose it to tell the patient about the possibility. At each follow-up, doctors will look after this cleft lip diagnosis, because when the baby grows in size, it becomes much easier to see any facial deformities. But even in the developed countries, to diagnose a cleft-lip or any facial deformity the chances are about 60 - 65%. It is still not even close to 90% even in well developed countries, at very good medical centers. That’s because the baby in the pregnancy period may hide her face and can simply not show it at all. But if you can identify it or have a serious suspicion about it, you should tell the couple before birth. The shock, the trauma they experience, is much worse once the baby is born and they thought there is nothing wrong. When we make the announcement during the pregnancy, they don't actually see the baby, they don't hold it in their hands, it's not a real face to face interaction, so the impact is not so dramatic. They have the chance to choose the hospital, they have the chance to choose sometimes the city and the surgeon. They start searching for surgeons and medical centers. And it is much better than just to go on a Google search and take the information online only. Because this is a big problem. It's another topic all over the world: people searching Google. They take Google for granted, as being a doctor. Google is not a doctor, not a certified doctor. It knows something, but it gives too much information and too much information means informational pollution. So, the parents are confused about a lot of things. But until the birth happens, after they learn the diagnosis, they go to the plastic surgeon or the cleft surgeon like myself, and we tell them all about the diagnosis and we reassure them about the treatment and his result, we show them pictures of some cases and they will know that it will be, it can be, a normal child. The only incovenient is maybe a scar and the only difference is the necessity to visit a surgeon and have some operations during the childhood period. If the operation is done by skilled surgeons, very well-trained surgeons, certified or registered centers, big centers, then the outcomes are near to perfection. In some cases, you hardly recognize which child once hade a cleft lip problem: it is hardly noticeable.

What about cleft palate diagnosis?

Prof. Dr. Hakan Ağır: To see the cleft palate in a pregnancy ultrasound is very difficult. The lip is easy to see because it's outside, but the cleft palate, isolated cleft palate has a detection rate in pregnancy of 30%, it's very difficult to catch it on ultrasonography, so most of the parents learn about this problem of their baby after birth. Sometimes doctors cannot see it at the regular newborn check-up, and they notice it after one or two months. I had some cases when even the nurses or the doctors skipped or overlooked it, or they couldn't find it. Because of the cleft palate there was a feeding problem with those babies because the milk was coming out through the nose. And the parents kept taking the baby to the doctor and kept telling him that she cannot be breastfed because the fluid is coming out through the nose... They couldn't see it because it was very far back. Every family or the doctors must look thoroughly all the way back to the uvula, that's what I'm teaching to students.

But isn't it routine to check this area?

Prof. Dr. Hakan Ağır: Should be routine, but because it is far back, and when it is far back, in their routine, they just put their fingers and go a little bit far back, then just draw the conclusions. After birth, they usually are so quick and busy in the maternity that they can easily miss it. I have seen such cases and I keep seeing these patients. So, it’s important for the families to know that if they have newborns with some feeding problems, sucking problems, breastfeeding problems, and there's milk in the breast and kid can't suck it because there's a big hole inside the palate and there's no negative pressure just to suck it out and they have difficulty and they think there's something wrong with the breast or something wrong with the baby and then look at the mouth, they can see the cleft. Sometimes this feeding problem caused by cleft palace is very very dangerous, children can suffocate. Most of the time we have the aspiration pneumonia - they are admitted to hospital to be treated for pneumonia. One case of mine was diagnosed like that, it was admitted to hospital due to pneumonia and when they have checked it, they have recognized the cleft palate. A little bit late, but they noticed it.

So, the only diagnostic tool in pregnancy, at the moment, is ultrasonography?

Prof. Dr. Hakan Ağır: Yes, for both cleft lift and cleft palace. And following the ultrasonography diagnosis doctors must make sure that there are no accompanying combined systemic abnormalities in which case we talk about syndromes. And, most of the time, we see the cardio-vascular, the cardiac problems associated. Some of them are not life-threatening, these syndromes, so we don't terminate the pregnancies. Actually, that is another common question coming from the people, whether we should terminate the pregnancy or not after a cleft lift and cleft palace diagnosis. Medically and legally, if you diagnose a cleft lip, or combined cleft lip and palate, any facial abnormality, which doesn't threaten the life of the fetus, internal life or even the life of the woman, so it's life compatible, you can't terminate the pregnancy. In my country the laws do not allow that. I know that in Asia, in Asian countries, they allow it, but in our country and in the European society no, we are not allowed to terminate the pregnancy. Unless there is a very severe syndrome, that means cranial problems, brain problems, cardio-vascular, pulmonary problems which are not compatible with life 100% after birth, then we can terminate the pregnancy. So, there's no indication.

A very important question that you must hear a lot from parents – what actually causes this cleft lip and cleft palace medical problems?

Prof. Dr. Hakan Ağır: It has been well reported that mothers who are smoking, heavy drinking and using drugs multiply the risk for such a diagnosis on their baby. Even if they stop smoking and stop drinking after they found out about the pregnancy, it has been shown that the risk remains very high – a 30-40% increase compared to non-smoking and non-drinking mothers. Normally, the incidents of cleft lip and palate child to be born is roughly around 1 in every 1000 life births, newborns. This is in normal population. But there are some races, like the Latin-America, Asians, East Asians, all the American Indians, that have a risk of 1 in 600 for instance. But if that woman is a heavy smoker or a heavy drinker that increases the rate we are talking about. Also, maybe the mother is not smoking, but the father may be smoking, we still have a higher risk because we have a smoking environment. Severe depression is another aspect that we are researching. In my research, here at ACIBADEM I've done one, and I have realized that 5-10% of the mothers that gave birth to children affected by this diagnosis were in a stressful environment during the pregnancy. Either they had to work very hard, they had a tense husband relationship, difficult family relationships, some depressions, some separations, any death in the family. You know, in our society these things are lived very intensely. If that happens around the first two months or the three months of the pregnancy, that may affect the child's development. This is scientifically shown. The nutritional status of the family or the mother also plays a role – poor nutrition is a risk factor; we have noticed that these cases appear mostly in the middle or low social-economical layers of the society. Also, of course, very severe infections that the pregnant woman, admitted to hospital, intensive care unit follow-ups, traumas like traffic accidents, this sort of things of course may affect the kid, you know, the fetus during the embriological development. The environment too, the pollution. If families live in a polluted environment, an industrial area, some studies showed that the rate is going up.

Does the medication taken by the pregnant woman increase the risk in any way?

Prof. Dr. Hakan Ağır: Yes, it does! If the women use anti-epileptics, anti-convulsives, steroids - these may increase the risk. Antibiotic use, painkiller use – they don't increase the risk. Women always ask this because if they have a common respiratory tract infection or a urinary tract infection, a simple infection, they are afraid of using antibiotics because they fear the risk of these anomalies. It’s not the case, it is not shown in researchs. So, they can use it safely under prescription. Another important risk factor is the mother’s weight: being obese, overweight, or gaining too much weight during the pregnancy, receving a diagnosis of diabetes or gestational diabetes, all these situations also increase the risk. Another thing that I have researched in my study group is the role of maternal age. If the woman is above 40, then the risk goes up. This is what we know. But this is not true - in my study, at least - for the cleft lip and palate. This may be true for some other cardiac anomalies or for something else, but this is not true, I couldn't show it. And also, the myth about IVF treatment. They all think that the IVF will increase the risk of anomalies, and in my study population I think that was around 150 families and there were some pregnancies after IVF, I couldn't show a risk increase compared to other ones. The risk is a little bit high, but statistically it’s not high. In science you must show it's statistically significant.

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