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"Latar Belakang: Blefaroptosis kongenital derajat berat dapat menghalangi aksis visual dan menyebabkan gangguan perkembangan sistem penglihatan, sehingga membutuhkan operasi untuk mengangkat kelopak mata. Saat ini, teknik operasi koreksi blefaroptosis dengan fungsi levator buruk di RSCM Kirana adalah frontalis sling dengan fascia lata dan reseksi otot levator maksimal. Saat ini berkembang teknik frontalis flap advancement dengan angka keberhasilan yang baik, namun belum diketahui aplikabilitas teknik tersebut di Indonesia.Tujuan: Menilai hasil tindakan dan keamanan tindakan frontalis flap advancement pada blefaroptosis kongenital derajat berat dengan fungsi levator buruk.Metode: Penelitian ini adalah studi quasi eksperimental dengan membandingkan keadaan sebelum dan sesudah perlakuan. Populasi target penelitian ini adalah seluruh pasien blefaroptosis kongenital derajat berat dengan fungsi levator yang buruk, berusia antara 8 hingga 40 tahun yang direkrut dengan metode purposive sampling. Pengukuran margin reflex distance-1 (MRD1), fisuka palpebra vertikal (FPV), fungsi otot levator (LA), dan pemeriksaan lapang pandang superior dengan mode superior 64 screening pada Humphrey Field Analyzer 2 dilakukan sebelum tindakan operasi. Selama tindakan operasi, dilakukan pencatatan durasi operasi, jumlah perdarahan, dan kesulitan yang dihadapi. Selama durasi follow-up selama 3 bulan, dilakukan pencatatan MRD1, FPV, dan lapang pandang superior pada setiap bulannya. Analisis statistik menggunakan perangkat lunak Statistical Package for the Social Studies (SPSS) v. 25Hasil: Dari 12 subjek penelitian, didapatkan median usia 17 tahun, median MRD1 -2 mm, FPV 5 mm, dan lapang pandang superior 0%. Tiga bulan pascaoperasi, didapatkan kenaikan median MRD1 (3 mm, p=0,003), FPV (9 mm, p=0,003), dan lapang pandang superior (92,2%, p=0,003). Simetrisitas kedua kelopak pasca operasi baik, dengan medium perbedaan MRD1 antara kedua kelopak sebesar 1 mm. Penelitian ini menemukan komplikasi pascaoperasi berupa ulkus kornea (1/12, 8,3%), hipoestesia frontalis (1/11, 9,1%), dan lagoftalmus (8/11, 72,7%).Kesimpulan: Teknik Frontalis flap advancement memiliki hasil tindakan dan keamanan yang baik pada blefaroptosis kongenital derajat berat dengan fungsi levator buruk.

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Background: Severe congenital blepharoptosis requires an appropriate surgery since the fallen eyelid may block the visual axis and hinder visual development. In RSCM Kirana, severe congenital blepharoptosis is corrected with either frontalis sling with fascia lata or maximal levator resection. Currently, frontalis flap advancement is considered to be an alternative technique with high success rate but the applicability of frontalis flap advancement in Indonesia is still unknown.

Aim: To evaluate the outcome and safety profile of frontalis flap advancement on severe congenital blepharoptosis with poor levator function.

Methods: This is a quasi-experimental study to evaluate the pre- and postoperative condition following frontalis flap advancement. The target population were individuals with severe congenital blepharoptosis aged between 8 and 40 years old, recruited via purposive sampling method. Margin reflex distance-1 (MRD1), vertical palpebral fissure (FPV), levator action (LA), and superior visual field examination using superior 64 screening mode in Humphrey Field Analyzer 2 were done prior to the operation. Duration of operation, blood loss, and difficulties faced were all recorded during the operation. During 3 months follow-up period, MRD1, FPV, superior visual field, as well as any complications found were recorded. Statistical analysis was done using Statistical Package for the Social Studies (SPSS) software v. 25.

Result: From 12 recruited subjects, the median age was 17 years old, median MRD1 was -2 mm, FPV 5 mm, and superior visual field 0%. Three months after the operation, we observe an increased MRD1 (median 3 mm, p=0,003), FPV (median 9 mm, p=0,003), and superior visual field (median 92,2%, p=0,003). Both eyelid had good symmetry untik 3 months postoperation with median difference of 1 mm. This study found several postoperative complications, which were corneal ulcer (1/12, 8,3%), frontal hypoesthesia (1/11, 9,1%), and lagophthalmos (8/11, 72,7%).

Conclusion: Frontalis flap advancement has a good outcome with low complication rate in patients with severe congenital blepharoptosis with poor levator function."

"ABSTRAKHipotiroid kongenital (HK) adalah kelainan bawaan yang dapat menimbulkandampak berupa retardasi mental permanen. Pemberian levothyroxine dengan dosis tepat pada usia sedini mungkin, dapat mencegah gangguan pertumbuhan dan perkembangan. Sayangnya, bayi baru lahir tidak menunjukkan gejala HK. Kalaupun ada, berarti sudah ada gangguan pertumbuhan. Perlu skrining hipotiroid kongenital (SHK) untuk menemukan kasus bayi yang menderita HK.Meski sudah dilakukan sejak 2006, baru pada tahun 2014 dikeluarkan Permenkes tentang pelaksanaan SHK di Indonesia. Penelitian evaluasi ekonomi program SHK tahun 2014-2015 ini mencakup analisis biaya skrining dan terapi dini, sedangkan outcome didapat dari systematic review (SR). Asumsi dikembangkan berdasarkan data riil pasien skrining SHK di 2 laboratorium rujukan di Jakarta dan Bandung.Dari total 56.186 bayi yang melakukan skrining, diperoleh 24 pasien positifmenderita HK. Hasil SR menyatakan bahwa semakin dini onset terapi, semakin adekuat dosis inisiasi dan semakin kontinyu terapi dapat memberikan hasil yang baik. Hasil Tersebut berupa pencegahan terhadap komplikasi HK lebih jauh dan perbaikan pada penyimpangan tumbuh kembang.Dari hasil penelitian, didapatkan informasi bahwa baru pada tahun kedua terlihat adanya keuntungan ekonomis SHK. Hal ini berhubungan dengan patologi gejala HK yang umumnya muncul pada usia 3-6 bulan. Orang tua baru mencari pertolongan medis pada tahun kedua dan mengeluarkan lebih banyak biaya. Biaya skrining dan terapi dini menjadi sepadan dibandingkan dengan kerugian yang dapat dicegah akibat gejala gangguan tumbuh kembang.

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ABSTRACTCongenital hypothyroidism (CH) is a congenital disorder that can have an impact in the form of permanent mental retardation. Giving the right dose of levothyroxine at the earliest possible age, can prevent the disruption of growth and development. Newborns do not show symptoms of CH, and unfortunately the symptoms appear in the late period and in many cases it shows growth disorders. The congenital hypothyroidism screening (CHS) program has been implemented to find infant cases with CH, and followed up with treatment.Although it has been made since 2006, Minister of Health just issued the regulation in 2014 on the implementation of CHS in Indonesia. This economic evaluation of the CHS program in 2014-2015 was done using cost analysis, while outcome obtained from the systematic review (SR). The assumptions used in the analysis were developed based on real data from a CHS screening program in two referral laboratories in Jakarta and Bandung. Out of 56.186 screened babies, 24 babies were found as CH positive cases.The result of the SR revealed that the earlier onset of initiation therapy, the more adequate dose and the more continuous therapy given to the patient, the better result will be achieved. It will prevent the patients from severe complications of CH and will improve the quality of thegrowth and development. The study found that the economic benefit is achieved in the second year of CH treatment, since the pathological symptoms generally appear at the age of 3-6 month and parents seek care in the second year. Consequently, cost to treat patients will increase. The cost of screening and early treatment was found worthy as compared to economic loss resulting from growth disorders"

"ABSTRAKHipotiroid kongenital (HK) adalah kelainan bawaan yang dapat menimbulkandampak berupa retardasi mental permanen. Pemberian levothyroxine dengan dosistepat pada usia sedini mungkin, dapat mencegah gangguan pertumbuhan danperkembangan. Sayangnya, bayi baru lahir tidak menunjukkan gejala HK. Kalaupunada, berarti sudah ada gangguan pertumbuhan. Perlu skrining hipotiroid kongenital(SHK) untuk menemukan kasus bayi yang menderita HK.Meski sudah dilakukan sejak 2006, baru pada tahun 2014 dikeluarkan Permenkestentang pelaksanaan SHK di Indonesia. Penelitian evaluasi ekonomi program SHKtahun 2014-2015 ini mencakup analisis biaya skrining dan terapi dini, sedangkanoutcome didapat dari systematic review (SR). Asumsi dikembangkan berdasarkandata riil pasien skrining SHK di 2 laboratorium rujukan di Jakarta dan Bandung.Dari total 56.186 bayi yang melakukan skrining, diperoleh 24 pasien positifmenderita HK.Hasil SR menyatakan bahwa semakin dini onset terapi, semakin adekuat dosisinisiasi dan semakin kontinyu terapi dapat memberikan hasil yang baik. Hasiltersebut berupa pencegahan terhadap komplikasi HK lebih jauh dan perbaikan padapenyimpangan tumbuh kembang.Dari hasil penelitian, didapatkan informasi bahwa baru pada tahun kedua terlihatadanya keuntungan ekonomis SHK. Hal ini berhubungan dengan patologi gejala HKyang umumnya muncul pada usia 3-6 bulan. Orang tua baru mencari pertolonganmedis pada tahun kedua dan mengeluarkan lebih banyak biaya. Biaya skrining danterapi dini menjadi sepadan dibandingkan dengan kerugian yang dapat dicegahakibat gejala gangguan tumbuh kembang.

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ABSTRACTCongenital hypothyroidism (CH) is a congenital disorder that can have an impact inthe form of permanent mental retardation. Giving the right dose of levothyroxine atthe earliest possible age, can prevent the disruption of growth and development.Newborns do not show symptoms of CH, and unfortunately the symptoms appear inthe late period and in many cases it shows growth disorders. The congenitalhypothyroidism screening (CHS) program has been implemented to find infant caseswith CH, and followed up with treatment.Although it has been made since 2006, Minister of Health just issued the regulationin 2014 on the implementation of CHS in Indonesia. This economic evaluation of theCHS program in 2014-2015 was done using cost analysis, while outcome obtainedfrom the systematic review (SR). The assumptions used in the analysis weredeveloped based on real data from a CHS screening program in two referrallaboratories in Jakarta and Bandung. Out of 56.186 screened babies, 24 babies werefound as CH positive cases.The result of the SR revealed that the earlier onset of initiation therapy, the moreadequate dose and the more continuous therapy given to the patient, the better resultwill be achieved. It will prevent the patients from severe complications of CH andwill improve the quality of thegrowth and development..The study found that the economic benefit is achieved in the second year of CHtreatment, since the pathological symptoms generally appear at the age of 3-6 monthand parents seek care in the second year. Consequently, cost to treat patients willincrease. The cost of screening and early treatment was found worthy as compared toeconomic loss resulting from growth disorders."

"ABSTRACTCongenital hypothyroidism is the most treatable cause of mental retardation. It is also the most prevalent congenital endocrine disorder in childhood. A dramatic improvement can be made by early detection, diagnosis, and adequate treatment of levothyroxine in patients with congenital hypothyroidism. Severe cognitive impairment is associated with persistent disease in patients who have delayed or no treatment at all. In a modern era with complete healthcare facilities in a big city like Jakarta, the prevalence late-diagnosed congenital hypothyroidism is supposed to be very low. Since many districts have their own public healthcare facilities to screen and diagnose congenital hypothyroidism in children at very young age, a delayed diagnosis in adulthood is actually a rare case.In this medical illustration, we report a case of 21 year-old woman who came to our hospital with abdominal pain. She had mental retardation with no capability to communicate well with other person. She had a short stature (her height was less than 1 meter). She also had mongoloid face with big lips and a very big tongue. There was no goiter or lump on her neck. Her motoric performance was very weak and frail. During abdominal examination, we could see an umbilical bulging on her abdominal wall and on palpation, we could feel an umbilical hernia. By abdominal ultrasound, we could see the umbilical hernia. Unfortunately, no diagnosis of congenital hypothyroidism had been made when she was a newborn, there was also no past or known history of thyroid disease of her and her family. She had a diagnosis of mental retardation with no specific etiology since she was 5-years old. Based on the results of her laboratory examination, we had a confirmed diagnosis of primary hypothyroidism with T4 10,56 nmol/L (normal 60-120 nmol/L) and TSH > 100 mIU/mL. We provided her treatment using levothyroxine based on her body weight (25 mg daily). We arranged her to have abdominal CT Scan and digestive surgery as further management for her umbilical herniation.Some defects are correlated with congenital hypothyroidism when the disease is not treated properly and adequately. Neurocognitive, neuromotoric, growth, and development are some areas which can be disrupted by long-term hypothyroidism condition for patients who had the disease since their early years of life. Congenital hypothyroidism appears to be associated with an increased risk of congenital malformations. Several congenital malformations associated with congenital hypothyrodism are umbilical hernia, congenital heart disease, neurologic abnormalities, genitourinary malformations, cleft palate, and Downs syndrome.Studies concluded that severity of the congenital hypothyroidism has more important role than timing of treatment initiation on long-term cognitive and motor outcomes. Detrimental effects on developmental outcomes in congenital hypothyroidism patients may persist over time; however, early treatment for patients at very early ages may bring the best cognitive outcomes and neuromotoric development.Regardless of the treatment options, we can say that it is a loss case and a very late diagnosis and treatment of congenital hypothyroidism. The unusual age of detection, delayed diagnosis and treatment are some reminders for primary care physicians in our society to pay greater attention to screening programs. 6 Early detection and prompt treatment is an essential part of measures to reduce burden of mental retardation in our society. Delayed diagnosis of congenital hypothyroidism case, which is diagnosed at adulthood, indicates failure in screening program. Early diagnosis and treatment are necessary to prevent long-term catastrophic effects. This a wake-up call of attention and awareness for general public and primary care physicians in our country."

"Anomali kongenital dapat mengakibatkan kematian pada anak apabila tidak ditangani secara tepat. Pembedahan merupakan intervensi utama untuk mencegah mortalitas, namun dapat menimbulkan kecemasan pada orang tua. Kecemasan orang tua erat kaitannya dengan tingkat pengetahuan pra-operasi. Penelitian ini bertujuan untuk mengidentifikasi hubungan tingkat pengetahuan pra-operasi dan tingkat kecemasan orang tua pada anak dengan anomali kongenital. Penelitian ini menggunakan desain penelitian potong lintang (cross sectional) dengan metode consecutive sampling yang melibatkan 125 orang tua. Instrumen yang digunakan adalah instrumen pengetahuan pra-operasi dan State Trait Anxiety Inventory Form Y-1 (STAI Form Y-1). Analisis uji statistik menggunakan uji Chi-square dan Fisher exact. Hasil penelitian menunjukkan terdapat hubungan bermakna antara tingkat pengetahuan pra-operasi dan tingkat kecemasan orang tua pada anak dengan anomali kongenital (p= 0,014;α= 0,05). Penelitian ini diharapkan dapat berguna untuk pengembangan ilmu keperawatan dimasa yang akan datang terkait edukasi pra-operasi untuk menurunkan tingkat kecemasan orang tua.

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Congenital anomalies can result in death in children if not handled properly. Surgery is the main intervention to prevent mortality, but it can cause anxiety in the parents. Parental anxiety is closely related to the level of pre-operative knowledge. This study aimed to identify the relationship between preoperative knowledge and parents’ anxiety in children with congenital anomalies. The research design was cross-sectional with a consecutive sampling method involving 125 parents. The instruments used were preoperative knowledge instruments and State-Trait Anxiety Inventory Form Y-1 (STAI Form Y-1). Statistical test analysis using the Chi-square test and Fisher's exact. The results showed that there was a significant relationship between the level of preoperative knowledge and the anxiety level of parents in children with congenital anomalies (p= 0,014; α= 0,05). This research is expected to be useful for the development of nursing science in the future related to pre-surgery education to reduce parents' anxiety levels."

"Latar Belakang: Celah bibir dan palatum merupakan salah satu kelainan kongenital yang paling sering terjadi. Kelainan ini dapat menyebabkan kendala dalam berbicara, abnormalitas telinga tengah, masalah psikologis, serta kelainan dental seperti anodontia parsial dan supernumerary teeth. Perawatan autologous alveolar bone grafting yang diambil dari tulang ilium pasien merupakan standar perawatan bagi pasien celah bibir dan palatum. Namun, pengambilan tulang tersebut bersifat invasif dan memiliki tingkat morbiditas dan mortalitas yang tinggi. Teknik rekayasa jaringan yang terdiri dari scaffold, faktor pertumbuhan, dan sel punca dapat menjadi solusi untuk masalahtersebut. Sumber donor sel punca yang tidak invasif bisa didapatkan dari sel punca pulpa gigi sulung (SHED) dan sel punca pulpa gigi permanen (DPSCs). Salah satu syarat dapat digunakannya suatu sel punca adalah memiliki kapasitas proliferasi yang baik. Perbandingan antara kapasitas proliferasi SHED dan DPSCs pada pasien normaltelah diketahui, namun pada pasien celah palatum belum pernah diteliti. Tujuan: Penelitian ini bertujuan untuk mengetahui perbandingan kapasitas proliferasi sel punca pulpa gigi sulung dan sel punca pulpa gigi permanen pasien celah bibir dan palatum. Metode: SHED dan DPSCs pasien celah bibir dan palatum dikultur hinga tingkatconfluency 70-80%, setelah itu sel dipanen dan dilakukan Uji PDT pada sel yang telah dikultur selama 7 hari. Hasil: SHED pasien celah bibir dan palatum menunjukkan nilai PDT yang lebih tinggi dibandingkan dengan DPSCs, namun secara statistik perbedaan tersebut tidak berbeda bermakna. Kesimpulan: SHED dan DPSCs penderita celah bibir dan palatum memiliki kapasitas proliferasi yang sama baiknya.

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Background: Cleft lip and palate is one of the most common congenital abnormalities. This disorder can cause speech impediments, middle ear abnormalities, psychological problems, and dental abnormalities such as partial anodontia and supernumerary teeth. Treatment of autologous alveolar bone grafting taken from the patient's ilium bone is the standard of care for cleft lip and palate patients. However, bone removal is invasive and carries a high rate of morbidity and mortality. Tissue engineering techniques consisting of scaffolds, growth factors, and stem cells can be a solution to the problem that. Sources of non-invasive stem cell donors can be obtained from primary dental pulp stem cells (SHED) and permanent dental pulp stem cells (DPSCs). One of the conditions for the use of a stem cell is to have a good proliferative capacity. Comparison between the proliferative capacity of SHED and DPSCs in normal patients known, but in cleft palate patients it has not been studied. Objective: This study was aimed to compare the proliferative capacity of pulp stem cells of primary teeth and pulp stem cells of permanent teeth in cleft lip and palate patients. Methods: SHED and DPSCs of cleft lip and palate patients were cultured to level

70-80% confluency, after that the cells were harvested and PDT test was performed on cells that had been cultured for 7 days. Results: SHED of cleft lip and palate patients showed a higher PDT value than DPSCs, but statistically the difference was not significantly different. Conclusion: SHED and DPSCs patients with cleft lip and palate have the same good proliferative capacity."

"Hiperplasia adrenal kongenital (HAK) adalah gangguan yang ditandai dengan defek pada enzim jalur steroidogenesis adrenal. Lebih dari 90% disebabkan mutasi pada CYP21A2 yang mengkode enzim 21-hidroksilase (21-OH). Monitoring tata laksana pasien HAK cukup sulit dicapai dengan menjaga keseimbangan antara overtreatment dan undertreatment.Penelitian bersifat cross sectional dilakukan di RSCM berlangsung selama 7 bulan (Juni-Desember 2020). Pemilihan sampel dilakukan dengan consecutive sampling dengan total 142 sampel. Sampel pasien HAK sebanyak 71 pasien, serta pemilihan sampel kontrol dilakukan dengan matching jenis kelamin dan usia. Kelompok HAK dilakukan pemeriksaan kadar 17-hidroksiprogesteron (17-OHP) serta androsteron, etiokolanolon urin dan rasio androsteron/etiokolanolon urin (A/E). Uji korelasi dilakukan antara androsteron, etiokolanolon, rasio A/E dengan 17-OHP. Kelompok kontrol dilakukan pemeriksaan androsteron, etiokolanolon urin dan rasio A/E. Hasil kedua kelompok dilakukan komparasi.Dari 71 kelompok HAK dan 71 kelompok kontrol mempunyai karakteristik dasar yang sebanding. Kadar androsteron kelompok HAK dibandingkan dengan kelompok kontrol berbeda bermakna (683,89(29,42-61061,43) vs 123,97(30,16- 16463,05) ng/mL;p<0,001). Kadar etiokolanolon kelompok HAK berbeda bermakna dibandingkan dengan kelompok kontrol (235,88(12,77-78446,65) vs 70,96(12,61-17332,62)ng/mL;p<0,001). Rasio A/E kelompok HAK berbeda bermakna dibandingkan dengan kelompok kontrol (2,31(0,37-40,12) vs 1,99(0,52- 5,45); p0,003). Kadar androsteron, etiokolanolon, rasio A/E mempunyai korelasi positif dengan kadar 17-OHP (r=0,505; r=0,367; r=0,313).Kesimpulan: Androsteron, etiokolanolon dan rasio A/E mempunyai kadar yang lebih tinggi pada pasien HAK. Androsteron mempunyai korelasi sedang, etiokolanolon dan rasio A/E mempunyai korelasi lemah terhadap 17-OHP.

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Congenital adrenal hyperplasia (CAH) is a disorder characterized by defects in one of the enzymes of the adrenal steroidogenesis pathway. More than 90% of cases are due to mutations in CYP21A2, the gene coding for 21-hydroxylase (21-OH) enzyme. Treatment monitoring in CAH patients is quite difficult to achieve due to fine balance of overtreatment and undertreatment.

Cross sectional study was conducted in RSCM for 7 months (June-December 2020). Consecutive sampling was used with total 142 samples. There were 71 patients CAH were included in this study. Control samples were selected by matching age and sex. In CAH group, 17-hydroxyprogesterone (17-OHP), urine androsterone, etiocholanolone, and ratio androsterone/etiocholanolone (A/E) were measured. Correlations were measured between androsterone, etiocholanolone, ration A/E with 17-OHP. In control sample urine androsterone, etiocholanolone, and ratio androsterone/etiocholanolone (A/E) were also measured. These results were compared between two groups.

In 71 CAH group and 71 control group had almost same characteristics. Androsterone level in CAH group had a significant different compared to the control group (683.89(29.42-61061.43) vs 123.97(30.16-16463.05) ng/mL;p<0.001). Etiocholanolone level in CAH group had a significant different compared to the control group (235.88(12.77-78446.65) vs 70.96(12.61- 17332.62)ng/mL; p<0.001). Ratio A/E n CAH group had a significant different compared to the control group (2.31(0.37-40.12) vs 1.99(0.52-5.45); p=0.003). Androsterone, etiocholanolone and ratio A/E had positive correlation with 17-OHP level (r=0.5050; r=0.367; r=0.313).

Conclusions: Androsterone, etiocholanolone, and ratio A/E had higher level in CAH subjects. Androsterone had intermediate correlation with 17-OHP, meanwhile etiocholanolone and ratio A/E had weaker correlation."

"Aborsi atau dalam istilah medis dikenal dengan istilah Abortus Provocatus merupakan suatu tindakan menghentikan kehamilan atau menggugurkan kandungan. Pengaturan mengenai aborsi di beberapa negara seringkali menjadi polemik, apakah merupakan suatu tindakan yang legal atau ilegal. Indonesia dan Australia merupakan dua negara yang berbeda dalam mengatur mengenai tindakan aborsi. Indonesia adalah salah satu negara yang menjadikan tindakan aborsi sebagai suatu kejahatan sebagaimana diatur dalam Kitab Undang-Undang Hukum Pidana (KUHP). Namun, dalam beberapa peraturan telah memberikan batasan yang limitatif bagi tindakan aborsi yang legal yaitu terdapat adanya kedaruratan medis, korban perkosaan dan apabila janin terdiagnosa cacat lahir. Salah satu bentuk kedaruratan medis adalah jika terdapatnya suatu penyakit kongenital berpotensi aborsi yang dapat dideteksi saat janin masih di dalam kandungan. Sedangkan di Australia, aborsi dianggap sebagai suatu masalah kesehatan dan merupakan tindakan yang legal. Masing-masing negara bagian di Australia telah mengesahkan peraturan yang mendekriminalisasi aborsi. Penelitian ini merupakan penelitian yuridis-normatif yang bersifat preskriptif dengan cara mengkaji literatur berkenaan dengan peraturan atas tindakan aborsi antara negara Indonesia dengan Australia terhadap janin dengan penyakit kongenital berpotensi aborsi. Simpulan penelitian ini yaitu pengaturan mengenai aborsi berkenaan dengan situasi medis janin dengan penyakit kongenital di Indonesia sudah cukup mengakomodir, akan tetapi dibutuhkan lagi peraturan khusus mengenai praktik aborsi dengan situasi ini apabila didapati kelalaian atau negligence dokter sehingga membuat pasien tidak memiliki kesempatan untuk memilih apakah melanjutkan kehamilan atau menghentikannya. Berbeda dengan Australia yang sudah sangat komperhensif dalam mengatur mengenai aborsi termasuk apabila terdapat kelalaian dokter sehingga dapat dimintakan pertanggungjawaban dalam bentuk konsep wrongful birth.

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Abortion or in medical terms known as Abortus Provocatus is an act of terminating a pregnancy. Laws regarding abortion in some countries are often controversial, whether it is legal or illegal. Indonesia and Australia are two different countries in regulating abortion. Indonesia is one of the countries that makes abortion a crime, as regulated in the Criminal Code (KUHP). However, several regulations regarding abortion in Indonesia have provided limitations for legal abortion, namely in some circumstances such as medical emergencies, rape victims and if the fetus is diagnosed with abnormal birth (birth defects). One of the conditions for an abortion to be carried out due to an indication of a medical emergency is if there is a congenital disease with the potential for abortion which can be detected while the fetus is still in the womb of the pregnant woman. Abortion is considered as a health problem in Australia and is legal. Each state in Australia has passed regulations that decriminalize abortion. This research is a juridical-normative research and prescriptive in nature which is done by examining the literature regarding the regulations on abortion between Indonesia and Australia for fetus with congenital diseases that have the potential for abortion. The conclusions of this research are that the regulation regarding abortion in medical situation of fetus with congenital diseases with potential abortion in Indonesia is sufficient to accommodate, however, specific regulations regarding the practice of abortion in this situation are needed if the doctor's negligence or negligence is found so that the patient does not have the chance to choose whether to continue the pregnancy or terminate it. In Australia, regulation about abortion has been very comprehensive, including if there is a doctor's negligence, so that it can be held accountable in the form of the concept of wrongful birth."

"Pendahuluan: Kembar siam adalah gangguan kongenital yang langka dengan insiden 1/50.000 hingga 1/500.000 kelahiran di seluruh dunia.1 Operasi pemisahan adalah pengobatan utama yang memiliki tingkat kematian tinggi hingga 60%. Penelitian sebelumnya menunjukkan bahwa kembar siam memiliki tingkat kejadian penyakit jantung kongenital hingga 66%, dengan kejadian tertinggi terlihat pada kembar siam thorakopagus.2 Penelitian ini bertujuan untuk mengevaluasi hubungan antara penyakit jantung kongenital (PJK) dan mortalitas kembar siam setelah operasi pemisahan. Metode: Kami melakukan studi retrospektif, pada semua pasien kembar siam yang menjalani operasi pemisahan di Rumah Sakit Dr. Cipto Mangunkusumo (RSCM) dari tahun 2009 hingga 2022. Dua puluh enam subjek ditemukan telah memenuhi kriteria inklusi dan eksklusi kami. Kompleksitas penyakit jantung kongenital didefinisikan oleh klasifikasi kompleksitas penyakit Bethesda. Hubungan antara kompleksitas PJK dan mortalitas dalam satu tahun pada pasien kembar siam yang menjalani operasi pemisahan dianalisis menggunakan uji Fisher. Hasil: Penyakit jantung kongenital terjadi pada kembar omfalopagus di RSCM. Tingkat kematian kembar siam dengan PJK yang menjalani operasi pemisahan di pusat kami adalah 40%, menunjukkan tidak adanya korelasi signifikan antara PJK dan mortalitas setelah operasi pemisahan, (p= 0,369). Kesimpulan: Kembar siam dengan PJK tidak menunjukkan korelasi dengan tingkat mortalitas setelah operasi pemisahan dalam studi awal ini. Penelitian lebih lanjut diperlukan dengan lebih banyak subjek untuk mendapatkan hasil yang lebih konklusif.

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Introduction: Conjoined twins are a rare congenital disorder with an incidence of 1/50.000 up to 1/500.000 births around the world.1 Separation surgery is the mainstay treatment which yields a high mortality rate of up to 60%. Previous studies show conjoined twins have a high incidence of congenital heart disease up to 66%, with the highest incidence evident in thoracopagus conjoined twins.2 This study aimed to evaluate the relationship between congenital heart disease (CHD) and conjoined twins mortality after separation surgery.

Methods: We performed a retrospective study, on all conjoined twin patients who underwent separation surgery in Dr. Cipto Mangunkusumo Hospital (CMH) from 2009 until 2022. Twenty-six subjects were found to have fulfilled our inclusion and exclusion criteria. Congenital heart disease complexity was defined by Bethesda disease complexity classification. The relationship between CHD complexity within one-year mortality in conjoined twins patients who underwent separation surgery was analysed using Fischer’s exact test.

Results: Congenital heart disease occurs in omphalopagus twins in CMH. The mortality rate of conjoined twins with CHD who underwent separation surgery in our centre was 40%, showing no significant correlation between CHD and mortality after separation surgery, (p= 0,369).

Conclusion: Conjoined twins with CHD showed no correlation to mortality rates following separation surgery in this preliminary study. Further research is needed with more subjects to make more conclusive results."