 Magandang araw sa inyong lahat. Good day to all. I am Dr. Carmencita Padilia, one of the proponents of the newborn screening program in the Philippines. Join me in uncovering the wonderful story of newborn screening in our country. Together, let's zoom in on what makes NPS a comprehensive program for every Filipino here at newborn screening and focus. To ensure that newborns are truly healthy, they must undergo newborn screening, a public health program that helps determine if a baby is born with one of the more than 20 congenital disorders. Its importance cannot be overemphasized. If any of the congenital disorders is left undetected and not managed immediately, it can lead to mental retardation and even death. It was integrated into the public health delivery system with the enactment of Republic Act 9288 or newborn screening act of 2004. No part of Hill Health's newborn care package, newborn screening is being offered in more than 7,000 hospitals and breathing centers nationwide. It has also saved thousands of children. This educational series is intended for health professionals who deliver services of the newborn screening program. Whether you're online or offline, this program aims to further enrich your knowledge in newborn screening and be able to apply the highest quality service to Filipinos, especially during challenging times. We will discuss the very process of newborn screening from the moment the baby is born and into the continuing care available for newborns found positive. We will also zero in on the features and management of each of the conditions included in the newborn screening panel. We will also interview patients as well as their parents. And in keeping up to the challenges, talk over health facilities and centers managed to give quality service despite the limits brought about by the COVID-19 pandemic. This program is the newest educational platform for our newborn screening coordinators, one in every 7,200 health facilities throughout the country. We also hope that this series will also benefit the health professionals. Physicians, nurses, midwives, medtechs, nutritionists, as well as students in the various health professions. So take a seat, get comfortable as you're in for quite an adventure here at newborn screening in Phobos. Sila ay mga si age patient na-diagnose sila ng mga baby pa sila. Napaka halaga ng newborn screening kasi kung hindi na-detect ng napaka-aga yun sakit ng mga anak ko, baka si Di bola na to sa akin sa kaasidani ka. Kasi magdadaan sila dun sa crisis na hindi mo alam kung ano yung sakit na, hindi mo alam kung pa paano mo gagamutin yun, then it will end to, it will end to death. Sana pa nyo newborn screening kayo para wala ng complication pag lakar. Para kung mag-problemaman, madali na maagapan. Ako po ang kasalokuyang follow-up head ng region 3 newborn screening continuity clinic na matatagpuan po sa Jose B. Lingdad Memorial General Hospital sa syodad ng San Fernando sa Provincia Poonang Pampanga. So the most glaring would be quillock-free medicines. It is an established strength of the continuity clinic that we provide the needed medicines for our patients. These are levothyroxyene for our congenital hypothyroidism patients and hydrocortisone for our congenital adrenal hyperbasia patients. However, for more than a year now, we are not able to do so because of procurement procedure problems. Number two, we are not able to get the requested laboratory procedures as scheduled since most of our patients come from indigent families. Poor finances has always been a problem. More so now because of the added economic burden brought about by the pandemic. At the very start, we make sure that we have the parents' commitment to adhere to the prescribed treatment of their children. We achieve this by providing continuing family education as to the patients' disorder, explaining to them the illness of their children, also especially explaining the effects of adequate treatment versus not complying to the treatment. We also encourage the parents to ask us questions so we can directly address matters that are probably confusing to them or they do not fully understand. This is important because this would avoid the future problem of parents seeking answers elsewhere, especially from persons with no medical background, which usually are the older relatives or even a neighbor probably haven't even heard of the disorder. This would probably result into most probable outcome in the long run for the patient. Most of our patients come from nearby provinces. Aside from travel expenses, some would need half a day of travel just to get to the clinic in San Fernando. Prior to the pandemic, we addressed this by scheduling the follow-up of patients who come from the same area on the same day. We also asked the assistance of either the LGU or the RHU to which the patient's household belong to if they can provide a free shuttle service for the patients to get to the clinic. At the moment, we are not experiencing this because we are relying heavily on telemedicine. Since the start of the pandemic, we have relied heavily on telemedicine. One of the major limitations of telemedicine is that we are not able to do the entirety of the physical examination. So, during the consult, we rely heavily on the parents' observation of their children and also the information that they bring to the front. Also, we asked feeding questions, just to pinpoint possible health issues that the parents may have overlooked as not noteworthy. Welcome to the seventh episode of Newborn Spinning in Focus, where we'll talk about congenital adrenal hyperplasia or CAH. CAH describes a group of autosomal recessive disorders of cortisol biosilvisis. It represents a continuous phenotypic spectrum with over 95% of our cases being caused by 21 hydroxylase deficiency. Infants with CAH may not appear ill at birth, but may experience assault-losing crisis within the first few weeks of life, which can lead to serious illness and death. This highlights the importance of newborn screening for early detection and management. Newborn screening for CAH was introduced in the late 1970s using a regioeminoassay 17 hydroxyprogesterone per 17 OHP in red blood spots collected onto filter paper cards from infants soon after birth. And since then, screening for CAH has been adopted in many countries, including the Philippines since 1996. To educate us more about CAH, we invited two experts who have been studying this condition for a long time now. Here we have Dr. Sylvia Estrada, a pediatric endocrinologist at various medical institutions, including the Manila Doctors' Hospital and the Makati Medical Center. We also have Dr. Eva Maria Cotionco de La Paz, a clinical geneticist and executive director at the National Institutes of Health UP Manila. Dr. Eva, Dr. Sylvia, welcome to newborn screening in focus. So, Dr. Sylvia, tell us what we have to know about congenital adrenal hyperplasia or CAH. Congenital adrenal hyperplasia, as mentioned, or CAH, is a group of disorders that involve spiroid synthesis. So, they resolved because there is an enzyme block, an enzyme deficiency that prevents the whole metabolic pathway to proceed to produce the end products which are cortisol, aldosterone, and on the third pathway, sex steroids or adrenal androgens. So, there's a block and therefore you have a deficiency or you do not have enough cortisol, which is your hormone for sugar balance, aldosterone, which is your hormone for salt and water balance, and then on the last pathway, it is also the pathway that produces your adrenal androgens or your testosterone and dihydroethystester. Go ahead, tell us more, you know, where do we find, where does this happen, Dr. Sylvia? Okay, so maybe let's backtrack a little bit, sandan ang gagaling to. So, ang adrenal glands natin, actually we have two. They sit on top of the kidneys, ang baton natin, and ang function ko talaga nito is to make steroids. Two kinds, no? The adrenal gland is divided into two basic parts, what they call the medala yung yung pinakagit na, atyaka yung labas ang pinakawag natin na cortex. Sa CAH ang involved dito yung cortex, and it produces, as I mentioned earlier, three types of hormones. Hormones that help us keep metabolically stable. Hormones that help us keep our water, sugar, salt balance so that we feel good. When in times of stress, this adrenal gland becomes very active and it releases cortisol. So, parang ibinabalik tayo sa balance. Sometimes when you're in some kind of stress, you just get so tired. So, it is the adrenal gland that responds to this type of stress. So, in CAH ang problema is doon sa synthesis, sa paggawa ng mga hormones sa outer cortex yung tinatawag natin mineralocorticoid or aldosterone. Yung atin glupo corticoid or cortisol. Atyaka dahil doon po kulang na pupunta po lahat ng mga precursor doon sa third pathway na gumagawa ng sobra-sobra po ng sex steroids or adrenal andogens. So, I'll take it a step further. So, kung kulang yan, ang ginagawa, nag-sesend siya ng senya sa utak. Sa sabihin ay, ay, kulang, kulang ang aming cortisol, kulang aming aldosterone. So, ang gagawa ngayon doon sa utak natin ang pitritary gland at siya kayong atin hypothalamus mag-release ng senya, 40 natawag natin ang chemical mediators. Mag-sesend sila ng senyas yung adrenal corticotropic hormone na siyang mag-systimulate sa adrenal cortex para sana gawin niya, iimpisahin na naman niya yung paggawa ng synthesis. Kaya lang sa CAH di ba may problema tayo sa enzyme, specifically in 90% of the cases 21 hydroxidase kulang. So kahit senyas ng senya si utak ay gumawaka pa, hindi siya makaprogress, makaprosig doon sa pathway ng cortisol at mineral corticoid. So ngayon ang ginagawa ng adrenal lumalaki siya kaya hyperplasia. Kaya congenital present from birth, adrenal kasi doon ng gagal ng yayari sa adrenal gland, hyperplasia lumalaki ang adrenal gland dahil na sa chronic stimulation galing sa utak in response to the body's cry for help. Wala kaming cortisol, wala kaming mineral corticoid kaya senyas ng senyas. Hindi naman makapagtuloy yung pagpagawa dahil ko may enzyme deficiency. So, Dr. Vavo, this is interesting because usually we talk about the heart, the brain, the kidneys, but you're telling us the adrenal glands are equally as important as the other organs of the body, most especially it handles stress. So just like now, with all the stresses, are you saying that our adrenal glands are working really hard? Yes, I would think and sometimes you're not eating, right? Yes, you continue to be having energy, that's because your adrenal glands is working together with all the other hormones to provide the energy that we need. So in other words, adrenal glands provides the balance in the body and that's why we have to make sure that it's normal. But in the case of CAH, as you have explained, because of all these hormones, all the enzymes that are missing, then we do have a problem. So can you just repeat again for our audience a summary of what CAH is because I want them to remember this. Okay. Yes. I think since this is a newborn screening series, what we are picking up actually in the newborn screening program is CAH due to 21 hydroxylase deficiency. One of five or six hormones that are involved in the production of the hormones I was talking about. Okay. Pero siya yung pinaka madalas mangyari, 90 to 95% ng lahat ng CAH worldwide ay dahil dito sa 21 hydroxylase deficiency na hindi gumagana ng maayos. So dahil doon, hindi nakakatuloy yung paggawa ng salt hormone, hindi nakakatuloy ang paggawa ng 40 salt or the sugar balance hormone. At tuloy ang nangyari dito, lahat ng ingredients, lahat ng precursor na dapat bumawa nitoong dalawa, ena pukunta doon sa third pathway. At tuloy nagkakaroon ang oversupply ng adrenal anglgens kaya ang mapapansin nyo yung mga babae na meron kong genital adrenal hyperplasia na dahil sa 21 hydroxylase deficiency ang kanilang genitalia ay nagiging atypikali. It's not the same shape or it's not the same physical appearance as a regular female genitalia. And in males naman dahil super sobra naman po yung mga adrenal androgens or main hormones, nag-advance po ang development ng kanilang physique especially their genitalia. Kahit newborn pa lang sila ay parang malaki-laki na po yung kanilang penis, ma-itim-itim na para hong nagiging early. Thank you, Dr. Babu. So in addition to the ambiguous genitalia, can you also share the other signs and symptoms of CAH? Yes. More important, which is why we do newborn screening, we want to detect it before they go into what we call adrenal crisis. So because they lack salt, they lack cortisol, they will feel weak, they will fail to thrive. Padede ka ng padede, hindi siya ma-padede ng ma-ayos, matamlay siya dumede o kung dedede masya isun-suka. Hindi siya lumalaki dahil na hindi ma-ayos ang metabolism niya, hindi perfect, hindi it's not going well. So they will have low blood sugar, they will have low salt, those who are salt wasters. At the same time, because they do not have the proper proportion of this important sugar and electrolytes in their system, and they become dehydrated and therefore they do not grow well. So yun ang usual symptoms na makikita natin sa untreated congenital adrenal hyperplasia. So the role of newborn screening now is really if we catch these babies early enough, then we can actually be supportive of the patient, treat them before the crisis sets in. And as you said, it's due to the imbalances that happens because of the pathways in the hormones. So in your practice, Dr. Sylvia, how many of the patients really picked up by newborn screening in Hami would be coming in in crisis? Okay, the general worldwide incidence really of congenital adrenal hyperplasia is sped up anywhere between 1 in 13,000 to 1 in 15,000. In our latest newborn screening data, it's about 1 in 20,000 na mesi AH4. Now there is a different kind of adrenal hyperplasia which we call the non-classic, which is not what we picked up in newborn screening. Mas madalas ko ito mangyare. This is about 1 in 1,000 or 1 in 1,500 na. So in our practice right now, we are very thankful that with newborn screening we can pick them up early, we can prevent the crisis and we can guide them through their lives with appropriate treatment. So thank you, Dr. Babu, for emphasizing again the role of newborn screening. You see, we added this in the panel from day one of the program actually more than about 25 years ago because knowing the importance of early management, then we can make a difference in the life of the patient. Now let me ask Dr. Ev a couple of questions on these genetics. There are some families who have more than one child with congenital adrenal hyperplasia. So maybe Dr. Eva, this is the time. Maybe can you explain why is this happening that we have families with more than one child? Yes, a very important question po, no? And I'd like to say that this, the newborn screening program, yung mga ating po na the diagnosed na cases of congenital adrenal hyperplasia, they undergo genetic counseling. And this is the process of helping them understand and adapt to the medical, psychological, and familial implications of genetic contributions to disease. So tulad po nang natanung niyo, Chancellor, ito pa ay pwede ng yayari sa mga pamilya. So ang congenital adrenal hyperplasia results from mutations or changes in the gene that codes for one of the several enzymes responsible for making steroid hormones in the adrenal gland, which was described by Dr. Estrada. And all forms po of congenital adrenal hyperplasia are inherited in an autosomal recessive manner. That means ang ibig sabihin po noon pag sinabi natin inherited in an autosomal recessive manner. It is when a baby inherits a gene that's not working well from each of his or her parents, so parents. So if an individual receives one abnormal gene and one gene is not working well, then that person will only be a carrier of the disease, but usually will not show any symptoms. So ang importanti kuminsahi dito, dalawang copyan ng genes ng baby na may congenital adrenal hyperplasia, ay they are not working well. And so the risk po for two carrier parents, if they have one copy of the gene that's not working well, the risk that they can pass it on to their children whether it's a male or a female child is 25% or 1 in 4 with each pregnancy. So which means if a couple has had one child affected with CAH, what we call as a recurrence risk is 25% happening again with each pregnancy. Thank you, Dr. Eva. So if a couple will have a baby diagnosed with CAH, do we automatically assume that the parents are carriers? That's a very good question. Yes, because the only way it can happen is that one parent, both parents are carriers of the gene that's not working well. However, there is a rare circumstance when a mutation can happen in a recessive gene, but that's a very rare condition. More often than not, we assume that the parents are both carriers of the gene that's not working well. So if I can ask Dr. Sylvia here. So I'm sure that you get these kinds of referrals. Patient in crisis and ambiguous genitalia and they're entertaining as CAH and you have your rundown of tests, okay? The usual test and I'd like you to mention them. And then I asked Eva at the end, Dr. Eva, where does genetics come in as a diagnostic part? So maybe I will just start with Dr. Sylvia now if I have a patient in crisis and I'm entertaining CAH, what are the usual things that you request for? Okay. Thank you for that question, Dr. Nancy. So the first thing is you have to, and this is undiagnosed. Undiagnosed, okay. So in crisis, dehydrated, looking very weak with low sugar and I would of course take electrolytes, so glucose, if you can afford cortisol, sodium, potassium because these are the electrolytes involved in the steroid biosynthesis. And then definitely 17 hydroxy progesterone. Then because there's ambiguity of the genitalia, I would really put already on order, refer to genetics and even before that, request for the karyotype analysis. Okay. So the problem in the Philippines is that the tests that you mentioned are not automatically available in all of the hospitals. So maybe for our Newborn screening coordinators who are here, if you get a patient who probably has an impending CAH, I'd like you to know that we are partnering with the pediatric endocrinologist in the country and actually Dr. Sylvia was one of the past presidents. It is the pediatric endocrinology and metabolism, metabolism society and MIT can saying that. But we need an endocrinologist on board as soon as possible. And our Newborn screening center should be able to help you close the case because this is one of the important things that I keep stressing to our Newborn screening facilities and to the coordinators that if you have, you cannot have an open case because there is a long process for the care of the baby. And as you've heard from Dr. Sylvia, because she didn't tell you can mean many things, but the important thing now is that close the case and make the diagnosis. So if ever you heard the diagnosis, diagnostic labs are not available in your hospital, your follow-up nurse and the Newborn screening center should help you find a lab where you can send a sample. And I'll bring in again already the department of health that if, let's say, the resources are not available, the department of health should be able to help you. So those are the requests from the point of view of an endocrinologist. I'm going to ask Dr. Eva now because even in our algorithm for diagnosis, it's really more of the results that the test that Dr. Sylvia actually mentioned. Can you share with our viewers where genetic testing can come into the picture? Thank you for that important question. Dr. Babu Estrada mentioned about karyotype. So in fact, a cytogenetic analysis or chromosomal analysis is an important part of the testing process. So that's a genetic test. And one of the important indications for doing a chromosomal analysis is when you see ambiguous genitalia. And also, of course, if you're entertaining congenital adrenal hyperplasia because you'd like to establish the genetic sex of the individual. So for our doctors and our nurses in the audience, you have to remember that our genetic sex is determined by chromosomes. And we have 23 pairs of chromosomes. The first chromosome one to chromosome 22 are the same for males and females. Those are called your autosomes. While your last pair, the 23rd pair is your sex chromosomes. And we inherited one copy of the chromosome from the father and one copy of the chromosome from the mother. So a female karyotype or a female genetic, a person who is genetically female will have a 46XX karyotype while a male will have a 46XY karyotype. So it's very important. This is one of the more important genetic tests done for patients with CAH. Once the diagnosis is established using the parameters that Dr. Silvia mentioned earlier and then we also have the karyotype, we can do further tests called molecular diagnostic tests. So using DNA coming from the baby, we can test for the mutations that may be present. So these are the changes in the gene Dr. Silvia mentioned that the most common type of congenital adrenal hyperplasia is the 21 hydroxylase deficiency which is caused by mutations in the C2182 gene. And there is a way to check for mutations that are present in the genes of the baby such as the deletions, parts of the DNA that's missing in the gene that codes for the 21 hydroxylase enzyme. There are other types of mutations like some typo errors also that can occur and that's a way to confirm the diagnosis molecularly. So maybe what Dr. F is saying aside from the tests that were mentioned by Dr. Silvia, the request for the chromosomal study is there to resolve the genetic test but there really is a panel of other molecular tests that can be done if you want to confirm the diagnosis. So in other words, in some cases it becomes a problematic case for us clinicians there is actually another test that can be done which is molecular. Now I know that I have several newborn screening coordinators listening to us right now but I want to inform you that when a patient when a sample actually comes from your hospital and gets into the newborn screening center there is an algorithm that the laboratory follows in terms of deciding whether it is a positive screen or a negative screen. So in other words that result is the numbers that come out from the numbers that come out from the testing that has been guided also by the endocrinologist. So having said that first before I go on into maybe more on the molecular part but then I'd like to ask Dr. Sylvia what are issues about the baby that may affect the result of a newborn screening of the newborn screening result of a patient with a possible CAH? Okay, I think very common here is that if a baby is premature more often than not we might get a falsely elevated 17-hydroxyprogesterone which is the biomarker that we're using to flag positive CAH and that is the reason why we need to do a repeat testing for these babies at an older age and I think our protocol calls for a repeat test of the expanded newborn screening on the day 28 so that it can give us a better idea if truly this is a true positive or not. That's very important, okay? So the age of gestation is so crucial for the lab to interpret the results. Are there any other issues that our coordinators need to understand? The other is the weight also a low birth weight will also cause sometimes a spewiously elevated 17-hydroxyprogesterone which is why sometimes I get questions from some of the coordinators or some of our colleagues why is it that this newborn screening is positive and it turns out negative later then we will have to just explain to them that there are really a few factors that can affect the result it's not a perfect test but at least it is a screen so one of them is prematurity the other is low birth weight very, very sick baby can also give you an elevated 17-hydroxyprogesterone in and otherwise probably a non-CAH baby What about steroids on the mother? Stewards on the mother depends on when the mother was taking it so it may or may not affected Dr. Padilla for example somebody with asthma depends on how long she's been taking it I've not known it to really affect strictly the newborn screening result So there were two things that Dr. Silvia mentioned that you have to remember this is a screen so in other words it can give a red flag on the possible patient with CAH does not diminish the the role of the clinician in doing some work up even if the result is negative you think that the patient really has a possible signs and symptoms then you should proceed with your work up and the second point that Dr. Silvia actually emphasized is that there are certain factors on the baby that may also affect the result she said low birth weight prematurity and what was the other one? Very sick baby as a whole when you have a very sick baby all the organs are not really functioning that well and we really repeat the test for that one So those are the factors affecting that So I'm going to ask now Dr. Eva because what we have noticed well the problem Dr. Eva and Dr. Silvia is that when the babies are not picked up we're not diagnosed immediately they can die so that is the problem that we are getting in our program the role of the coordinator is so crucial if you are a health professional hunting a baby you've got to send that sample have that sample sent to the lab because a delay of a few days by the time we recall the patient can be dead and that has happened actually in the program So my question now to Dr. Eva is that I mentioned earlier that I want the cases to be closed So using genetics now are we able to make a diagnosis on a baby who had a positive screen but was not able to have the battery of test that Dr. Silvia mentioned Dr. Eva Yes, in fact we have embarked in a research study that will determine if the baby who has died who unfortunately died and did not get the benefit of the testing the tests that Dr. Silvia mentioned and yet the newborn screening was positive for CAH we are going back to those babies right now and checking whether they actually have mutations in the gene that is responsible for congenital adrenal hyperplasia that is a way for us to close the case whether the death could be attributed to CAH or not and so hopefully we will have results of that study within the year because this will allow us to have a second tier testing for CAH that we can probably add to the algorithm using molecular test we can help make the diagnosis after a positive CAH newborn screen Just to emphasize again the urgency of timely sample collection and submission because you heard Dr. Silvia saying that in the Philippines it's roughly about 1 in 10,000 I suspect it's a little bit higher than that but if you have 2 million babies in a year then you can just imagine the number of CAH patients that we have in the country so if you want to catch them in time for treatment you've got to do this now there is an effort at the newborn screening reference center to actually include a molecular testing as part of the algorithm so the coordinators I just want you to understand that the testing that we're doing in the lab right now undergoes a regular review using the data that we have but again timely sample collection timely submission so that we have a timely recall management for the patient so in terms of treatment maybe we can just cover if you can just give an overview of how the patient will be managed Dr. Silvia, do they have to be hospitalized or can it be managed at home especially if you caught it early in time Very good question so if they are not in crisis they do not have to be hospitalized we can actually just instruct the mothers very carefully that this baby should be on hydrocortisone which is your cortisol replacement and pludrocortisone which is your mineralocorticoid replacement and this is given to those who have the salt wasting type meaning when you did your electrolytes your sodium is low also so there they have what we call the classic wasting congenital adrenal hypertension so they need two medicines hydrocortisone and pludrocortisone and in infants plus salt tablets Very important message Dr. Silvia that if you're able to recall the patient on time the patient may not necessarily have to be admitted so you've got to come in because we don't like an admission as much as possible especially now that we don't have the luxury of beds in the hospital so you've got to get that baby in time so that treatment can be given so are there any other parts of any components in basic knowledge and CEA that you'd like to share with the group Dr. Silvia For us healthcare professionals it's important for all of us to be well versed with at least the basic information so that even if you belong to the laboratory that's screening and with let's say you're the nurse in charge of the recall you can also at least educate the mother we need to bring your baby in so that we can confirm and of course the mother will say bakit wala naman siyang sintomas say screening ko ito yung nga po wala po talakang sintomas so we need to bring it in by just be arming yourself with the basic information about congenital adrenal hyperplasia you can help the mothers the second is always ask when there is a positive result did you look at the genitalia pumusta po ang private ang penis ng bata pumusta po ang pepe ng bata so that at least you have an idea as they forget to put that information in the newborn screening part so you would have educated them indirectly to be looking at the genitalia and at the same time extracting important information from the referring newborn screening facility education is so important and actually I just want to inform our viewers that we do have fact sheets at the website wherein if you have a patient positive for any of the conditions we have fact sheets to guide you on the basic information you don't have to be a specialist and as you can see the doctor Sylvia said, arm yourself with correct information it doesn't have to be so complicated but at least an understanding of the condition because our patients ask us if you are the attending physician if you are the attending pediatrician if you are a family friend who is a doctor the patient or rather the parent will ask you what is CAH so the newborn screening center actually together with a specialist have come up with fact sheets so that you can be more informed when responding to the patient and most importantly this is something that we I'm glad that you mentioned that have you really looked at the genitalia especially when you get a positive screen and doctor Sylvia and I in the past 25 years can give you a lot of stories on patients who have been given the wrong sex patients who have been normal and have been advised to go to hospital with an impending crisis we can probably come up with a book just talking about the many stories that we've encountered but at the end of the day I go back to the basic message to our audience timely sample collection timely submission timely recall and then timely management and if you just follow that then of course these patients even if they have CAH do not necessarily have to be hospitalized so on the part of genetics is there anything else you'd like to add Doctor Eva? During the counseling session often parents will share their guilt that there was something they did that caused this to happen and so it is important to emphasize to the parents that there's nothing they did or did not do that cost this condition to happen we cannot choose our genes these are passed on to us from one generation to the next within a family so it is it's a vital information to convey to the parents that though we cannot manage our genes we will be able to detect this condition such as congenital adrenal hyperplasia early enough and they can say the newborn screening program can save babies from death and can allow these children to live productive lives Thank you Doctor Evan Thank you Doctor Sylvia Just a final message to our viewers I'll start with Doctor Sylvia Again I will emphasize a positive newborn screening must really be confirmed a positive CAH you have to recall that baby timely and push for the confirmatory if confirmed to read early and assemble your team if there is ambiguous genitalia and do education reeducation and make sure that there is no up from newborn period to childhood to adolescence and endorse them properly to the adult service at the time that it is needed Thank you Doctor Sylvia Doctor Eva final message to our viewers Thank you Chancellor I think it's important that our healthcare providers our newborn screening coordinators emphasize to the families that it's important to have the right information enough knowledge about the condition how it's inherited so that they can address the problems of their child in a timely manner and as well as plan for subsequent pregnancies so they can have informed medical decisions this is not a curse it's something that can happen to any family but then it's something that could be addressed and with early detection and management this babies can be saved and can have long lives Thank you very much to our panelists for our lively discussion on genetics and the overview on the short term management of CAH Doctor Sylvia gave an overview on the pathophysiology of CAH as well as the role of newborn screening confirmatory testing and timely and adequate management Doctor Eva explained the genetics of CAH being an autosomal recessive disorder implying that the parents are carriers of the gene for CAH Doctor Eva also gave the role of molecular testing and diagnosis of CAH We have very important messages Doctor Sylvia stressed the importance of education on the part of the health workers the health workers must have enough information about CAH even before they meet the patient NSRC or the newborn screening reference center has fact sheets the website to assist the health worker Our second message is the importance of forming a multidisciplinary team in the management of CAH It is a lifetime condition and care is from birth to childhood adolescence and adulthood Doctor Eva stressed the importance of genetic counseling since there is a big chance of subsequent pregnancies with babies also with CAH The genetic counselors help the parents understand at the fault both endocrinology and genetics are partner fields in the total understanding of CAH Once again thank you to Doctor Sylvia and Doctor Eva We are excited to see you again next week as before they discuss the long-term management of the CAH including your psychosocial and psychosexual issues Your virtual audience please send us your comments, questions or the list of topics that you want us to cover in our succeeding episodes Email us at info.newbornscreen.ph or you may tweet us at newbornscreenph You may include the hashtag hashtag ENBSPH Before we end I want to again take this opportunity to present to you the new addition to our tools in learning our ENBS mobile app The ENBS mobile app is a one-stop hub for all ENBS health workers on everything they need to know about newborn screening It also features a rewards program that our health workers can use to earn points and use it to claim shop vouchers with our partners If you have already downloaded the app answer it please We continue to improve our services as deemed necessary by the emerging challenges to an open dialogue about our experiences in newborn screening It is our hope that through this video series we extend the sharing of knowledge with greater reach and power our frontliners improve connectivity with newborn screening coordinators and most importantly parallel service to every Filipino That wraps up our discussion where the features and short term management of congenital adrenal hyperplasia We are excited to see you again next week as before the elucidate on the long term management of CAH including their psychosocial and psychosexual issues This and more here in newborn screening Nothing is more precious than seeing a child grow healthy and normal Let's realize this through newborn screening Newborn screening is a gift of life