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Terminologi

1. Multiple congenital anomaly


A congenital anomaly is defined as a structural defect, present at birth and
different from the norm. These anomalies can be further divided into major
anomalies that require medical and surgical care (eg, congenital heart defect, cleft
palate, meningomyelocele) and minor anomalies that do not have medical
significance (eg, single palmar crease, epicanthal folds, fifth digit clinodactyly).
Anomalies themselves can be classified based on the developmental process
involved in their formation. Well-defined types of anomalies include malformations,
deformations, disruptions, dysplasias, syndromes, associations, and sequences
(see Table 801). It is also important to understand that these may not be entirely
mutually exclusive. Table 811 provides an overview of congenital anomalies that
are associated with congenital heart disease and Table 812 reviews the teratogens
associated with some of these lesions.
(http://accesspediatrics.mhmedical.com/content.aspx?
bookid=457&sectionid=40092893)
Addition :

I. Incidence. Among newborns, ~13% have more than one major congenital
anomaly recognized at birth. These infants often have longer hospital stays
and have increased mortality rates. Malformations can cause >20% of
neonatal deaths.

II. General approach to diagnosis. In the management of multiple congenital


anomaly (MCA) syndromes, the neonatologist must deal with complex clinical
issues calling for a wide range of diagnostic skills. Without a correct diagnosis
of MCA syndrome, many available forms of therapy go underused and others
may be tried, although they will be relatively ineffective. Furthermore,
unrealistic counseling may be given about prognosis and recurrence risk. Only
a few common MCA syndromes are life threatening in the neonatal period. It is
important to note, however, that malformations are the most common
cause of death at this critical point in the life span. Table 802 lists
symptoms and signs that should alert the clinician to the possibility of
cryptogenic malformations or disorders. Obviously, if overt malformations are
present, an MCA syndrome will be immediately recognized and diagnostic
efforts will shortly follow. However, if external features of the disorder are
subtle or nonspecific and the usual procedures associated with intensive
newborn support have been started, findings may go unrecognized early. Each
manifestation listed in Table 802 is more common in infants with MCA
syndromes. Underlying etiologies for MCA syndromes include chromosomal
abnormalities, monogenic disorders, multifactorial disorders, and unknown.
The diagnostic approach to MCA syndromes in neonates is no different from
that in older children. Because so many of these children are intubated with
multiple lines and tubes, detailed assessment of physical characteristics can
be challenging. Clinical photographs are essential, especially when a clinical
geneticist is not available locally. If specialists in these fields are not available,
a telephone call to a university medical center for expert advice is often
useful. If the infant is critically ill and suspicion for a MCA syndrome is present,
looking for other major malformations is important (eg, echocardiogram,
renal/abdominal ultrasound, brain imaging). The basis for diagnosis of a
MCA syndrome in a neonate involves a combination of defining the
physical manifestations and diagnostic genetic testing.

2. Sindrom gawat nafas


Sindrom gawat napas neonatus(SGNN) atau respiratory distress syndrome (RDS)
merupakan penyebab morbiditas utama pada anak. Sindrom ini paling banyak
ditemukan pada BBLR terutama yang lahir pada masa gestasi < 28 minggu.
Penyebab terbanyak (SGNN) adalah penyakit membran hialin (PMH) yang terjadi
akibat kekurangan surfaktan. Kelainan paru ini membawa akibat pada sistem
kardiovaskular seperti terjadinya pengisian ventrikel kiri yang menurun, penurunan
isi sekuncup, curah jantung yang menurun, bahkan dapat terjadi hipotensi sampai
syok. Resistensi pembuluh darah paru yang meningkat dapat menimbulkan
hipertensi pulmonal persisten. Pada bayi yang sembuh dari PMH dapat terjadi
duktus arteriosus persisten (DAP). Pemeriksaan penunjang radiologis, laboratorium,
EKG dan ekokardiografi sangat diperlukan untuk membantu menegakkan diagnosis
RDS. Tata laksana penyakit ini sangat tergantung pada tingkat gangguan
kardiovaskular yang terjadi.
(http://saripediatri.idai.or.id/abstrak.asp?q=274)
3. Lahir spontan
4. Ketuban
5. Resusitasi
6. Ampisilin
Ampicillin adalah kelompok obat antibiotik penisilin. Jika Anda alergi terhadap
penisilin, jangan mengonsumsi obat ini. Obat ini berfungsi mengatasi infeksi akibat
bakteri, contohnya infeksi saluran pernapasan, infeksi saluran kemih, dan infeksi
telinga.
7. Gentamisin
Gentamicin adalah jenis antibiotik golongan aminoglikosida yang dapat digunakan
untuk mengobati infeksi bakteri gram negatif seperti P. aeruginosa, Proteus, E.coli,
Klebsiella, Enterobacter, Serratia, Citrobacter dan Staphillococcus.
8. Dextrose 10%
9. Hipotermia
10. Sianosis circum oral

Cyanosis

Definition
Cyanosis is a physical sign causing bluish discoloration of the skin and mucous mem
branes.Cyanosis is caused by a lack of oxygen in the blood. Cyanosis is associated
with coldtemperatures, heart
failure, lung diseases, and smothering. It is seen in infants at birth as aresult of hea
rt defects, respiratory distress syndrome, or lung and breathing problems.
Description
Blood contains a red pigment (hemoglobin) in its red blood cells. Hemoglobin picks
up oxygenfrom the lungs, then circulates it through arteries and releases it to cells t
hrough tiny capillaries.After giving up its oxygen, blood circulates back to the lungs
through capillaries and veins.Hemoglobin, as well as blood, is bright red when it con
tains oxygen, but appears dark or "bluish"after it gives up oxygen.
The blue discoloration of cyanosis is seen most readily in the beds of the fingernails
andtoenails, and on the lips and tongue. It often appears transiently as a result of sl
owed blood flowthrough the skin due to the cold. As such, it is not a serious sympto
m. However, in other casescyanosis is a serious symptom of underlying disease.
Causes and symptoms
The blue color of the skin and mucous membranes is caused by a lack of oxygen in t
he blood.Low blood oxygen may be caused by poor blood circulation, or heart or bre
athing problems. Itcan also be caused by being in a low-oxygen environment or by c
arbon monoxide
poisoning.More rarely, cyanosis can be present at birth as a sign of congenital
heart
disease, in whichsome of the blood is not pumped to the lungs where oxygen woul
d make the blood a bright redcolor. Instead, the blood goes to the rest of the body a
nd remains unoxygenated. Cyanosis alsomay be caused by poisoning from chemic
als, drugs, or contaminated food and water.
Other signs of low blood oxygen may accompany cyanosis, including feeling lighthe
aded orfainting.
Treatment
Treatment of the underlying disease can restore proper color to the skin.
Key terms
Hemoglobin A colored substance (pigment) in the blood that carries oxygen to ti
ssues andgives blood its red color.
Respiratory distress
syndrome Also known as hyaline membrane disease, this is acondition of prema
ture infants in which the lungs are imperfectly expanded due to a lack of asubstanc
e on the lungs that reduces tension.
Prognosis
If the underlying condition (such as heart or lung disease) can be properly treated, t
he skin willreturn to its normal shade.
(http://medical-dictionary.thefreedictionary.com/circumoral+cyanosis)
11. Retraksi dinding dada
Tarikan dinding dada yang kuat
12. Labiopalatoschisis
13. Katarak kongenital
14. Polydactily
15. VSD
16. Analisis gas darah
17. TORCH

Viral infections in pregnancy are major causes of maternal and fetal morbidity and
mortality. Infections can develop in the neonate transplacentally, perinatally (from
vaginal secretions or blood), or postnatally (from breast milk or other sources). The
clinical manifestations of neonatal infections vary depending on the viral agent and
gestational age at exposure. The risk of infection is usually inversely related to
gestational age at acquisition, some resulting in a congenital malformation
syndrome.

Infections known to produce congenital defects have been described with the
acronym TORCH (Toxoplasma, others, rubella, cytomegalovirus [CMV], herpes). The
"others" category has rapidly expanded to include several viruses known to cause
neonatal disease.

Traditionally, the only viral infections of concern during pregnancy were those
caused by rubella virus, CMV, and herpes simplex virus (HSV). Other viruses now
known to cause congenital infections include parvovirus B19 (B19V), varicella-zoster
virus (VZV), West Nile virus, measles virus, enteroviruses, adenovirus, human
immunodeficiency virus (HIV), and Zika virus.

Also of importance is hepatitis E virus because of the high mortality rate associated
with infection in pregnant women. Recently, lymphocytic choriomeningitis
virus (LCMV) has been implicated as a teratogenic rodent-borne arenavirus.
Worldwide, congenital HIV infection is now a major cause of infant and childhood
morbidity and mortality, responsible for an estimated 4 million deaths since the
start of the HIV pandemic. The breadth and depth of this problem is beyond the
scope of this article.

With emerging concerns for an influenza pandemic, attention has also now been
directed to the effects of influenza on pregnant women. Pregnant women are more
likely to develop severe disease, perhaps related to physiological changes in
pregnancy, such as decreased lung capacity, increased oxygen needs, and
increased heart rate. Currently, inactivated influenza vaccine is recommended in all
trimesters of pregnancy. [1] One study found that influenza vaccination of high-risk
pregnant patients also provides some protective immunity for newborns and
reduces subsequent hospitalizations in the infants. [2] Influenza has historically been
shown to produce significant morbidity and mortality in this population
(see Influenza and H1N1 Influenza [Swine Flu]).

With the recent Ebola-related deaths in the United States, there is some suggestion
that pregnant women may be more susceptible to severe disease and death from
Ebola.

Penyakit infeksi yang dapat ditularkan dari ibu ke janinnya menyebabkan infeksi
kongenital pada susunan saraf pusat janin dengan berbagai akibat dan kelainan,
salah satunya adalah infeksi oleh TORCH (Toxoplasma, Rubella, Cytomegalovirus
dan Herpes). Infeksi TORCH merupakan gangguan pada kehamilan yang bisa
membahayakan janin, bila diketahui di awal masa kehamilan, risiko penularan dari
ibu pada janin bisa dikurangi sehingga cacat bawaan bisa dicegah.

Dalam rangka HUT Ke-2 RS Akademik UGM, Rumah Ramah Rubella bekerjasama
dengan Rumah Sakit Akademik Universitas Gadjah Mada menyelenggarakan acara
Seminar TORCH dengan mengangkat judul Yuk Kenali Ciri-Ciri Gangguan TORCH
pada Anak pada hari Sabtu 29 Maret 2014 di Aula Lantai 2 RS Akademik UGM, Jl.
Kabupaten (Lingkar Utara), Kronggahan, Sleman.

Seminar menghadirkan para pakar ahli, Prof.dr.Sunartini Hapsara, Sp.A(K), Ph.D.;


dr.Noormanto, SpA(K); dr.Mahama Sotya Bawono, Sp.THT-KL, M.Sc.; dr.Eva Revana,
Sp.M, M.Sc. dan dihadiri oleh peserta dari masyarakat umum, komunitas WKCP
(Wahana Keluarga Cerebral Palsy), dokter dan kader kesehatan dari puskesmas
dengan total 200 peserta.

Prof.dr.Sunartini Hapsara, Sp.A(K), Ph.D. dalam pemaparannya menjelaskan bahwa


infeksi TORCH biasanya akan menyebabkan kelainan neurologis, kelainan sistemik,
kelainan kongenital, kelainan mata dan kadang-kadang terdapat gangguan
pendengaran. Pengelolaan infeksi TORCH tergantung pada jenis infeksinya, pada
bayi dan anak yang terkena infeksi TORCH harus diobati sesuai dengan jenis
penyakitnya, untuk menghindari disabilitas lebih lanjut perlu dilakukan pemeriksaan
lengkap dan pengobatan yang memadai serta terapi secara intensif dan teratur.

Kebersihan tangan harus menjadi kebiasaan kapan saja dan dimana saja, olah raga
yang teratur dan memadai, pola makan sehat dan bersih, tidak hidup bersama
hewan di dalam rumah dan lingkungannya sangat dianjurkan bagi ibu hamil dan
anak-anak demi pencegahan infeksi TORCH, kata Sunartini.
Pada pemaparan materinya, Dr. Noormanto, SpA(K) menyampaikan Angka kejadian
penyakit jantung bawaan 4-9% per 1000 kelahiran bayi cukup bulan, dan di RS
Sardjito sendiri dalam 4 bulan terakhir ditemukan 15 kasus Rubella syndrome
dengan penyakit jantung bawaan.

Penyebab pasti dari penyakit jantung bawaan tidak diketahui, tetapi geneitk dan
lingkungan berperan. Prinsipnya adalah terjadi akibat terganggunya perkembangan
pembentukan jantung normal di dalam rahim pada awal kehamilan Noormanto
menambahkan.

Kegiatan ini merupakan seminar pembuka dan akan diagendakan secara berseri,
serta diselenggarakan secara kontinyu dengan harapan mampu memberikan
informasi yang dibutuhkan oleh masyarakat, dan meningkatkan kesadaran serta
partisipasi masyarakat dalam program pencegahan resiko kehamilan dikarenakan
gangguan infeksi TORCH.

18. Omfalitis
19. Sepsis
20. Meningitis purulenta
21. Gangguan tumbuh kembang