This document discusses congenital disorders and birth defects. It defines congenital disorders as medical conditions that are present at birth, usually as a result of genetic abnormalities, problems in the intrauterine environment, or unknown factors. Congenital disorders can range from minor physical anomalies to severe malformations affecting single or multiple body systems. Some individuals have multiple birth defects that together form a recognizable syndrome that may have genetic or environmental causes. Common causes of congenital disorders discussed include infectious diseases, physical agents like radiation, drugs and chemicals, and metabolic or genetic maternal factors. The document also covers testing, prevention strategies, and examples of teratogenic medications and substances.

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Congenital anomali
- kehamilan
Arie kusumaningrum
DISAMPAIKAN PADA KULIAH
KESEHATAN REPRODUKSI

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congenital disorder
definition
A is any medical condition that is present at birth.
They are usually hereditary
A congenital disorder can be recognized before birth
(prenatally), at birth, or many years later.
can be a result of
genetic abnormalities
the intrauterine environment
unknown factors.

3. Kelainan kongenital
 25 – 30% kematian BBL  kelainan
struktur berat (eropa dan amerika utara)
 80% diantaranya  kelainan genetik
 Resiko berulang 1%  lebih
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Congenital disorder
Birth defect
Congenital physical
anomali
congenital malformation
Genetic diseases
congenital metabolic
disease

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Definition
A physiological or structural abnormality that
develops at or before birth and is present at
the time of birth, especially as a result of
faulty development, infection, heredity, or
injury.(dictionary)
birth defect

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congenital abnormality resulting from maldevelopment
of the fetus in utero (genetic or extraneous) or
damage to the normally-developed fetus by infection
or injury before or during birth.
evident at the time of birth and also those which
reveal themselves later
including inborn errors of metabolism.
Stuart Judge, 2007
birth defect

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are physical abnormalities that are
present at birth
they are also called congenital
abnormalities.
More than 3,000 have been
identified.
Karen Ericson, RN , 2007
birth defect

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Description
2-3% of all newborn infants.
This rate doubles in the first year, 10%
by age five, as more defects become
evident and can be diagnosed.
20% of deaths in newborns
Karen Ericson, RN , 2007

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congenital physical anomaly
definition
 an abnormality of the structure of a body part.
 problem condition  may or may not
 Many people  have 1 /> if examined carefully.
 Examples of minor anomalies can include
 curvature of the 5th finger (clinodactyly),
 tiny indentations of the skin near the ears (preauricular
pits),
 shortness of the 4th metacarpal/metatarsal bones,
 dimples over the lower spine (sac dimples).
 minor anomalies  may be clues  significant internal
abnormalities.

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congenital malformation
Definition
 physical anomaly, a structural defect
perceived as a problem.
 dysmelia.
 combination of malformations or problems more
than one body part  syndrome

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Genetic diseases
disorders are all congenital
may not be expressed recognized until
later in life.
single-gene defects or
multiple-gene disorders
chromosomal defects.
autosomal gene (a recess disorder) or (a
dominant disorder).
chromosom

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congenital metabolic
disease
inborn error of metabolism.
single gene defects
Affect  structure of body parts and
function

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Congenital
diseases, defects, disorders, anomalies, or
simply genetic differences.

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Severity Range
Congenital disorders include
minor physical anomalies (e.g., a birthmark),
severe malformations of single systems (e.g., congenital
heart disease or dysmelia)
combinations of abnormalities
Congenital defects of metabolism  congenital
disorders.
A congenital disorder can have trivial or grave
effects.
The most severe, such as anencephaly, are incompatible with
life.

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2/1000 infants (US statistics).
Dysmelia
amelia, ectrodactyly, phocomelia, polymelia, polydactyly
, syndactyly, polysyndactyly, oligodactyly, brachydactyly
, achrondroplasia, congenital aplasia or hypoplasia,
amniotic band syndrome, and cleidocranial dysostosis.
Severity Range

16. Kelainan bawaan
 Sering
 CLP
 Defek tabung syaraf
 Kelainan jantung
 CP
 Clubfoot
 Dislokasi panggul
 Hipotiroidsme kongenital
 Fibrosis kistik
 Anemia sel sabit... Dsb..
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17. Literatur lain
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18. Faktor penyebab kelainan bawaan
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Causes
Some
individuals
have various
major and
minor
congenital
anomalies that
together form
a recognizable
pattern, called
a syndrome.
Syndromes
can have both
genetic and
environmental
causes

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 Tetratology is the
study of the effect
of environmental
agents on the
developing embryo
and fetus.
 Teratogens are
agents that
interfere with
normal embryonic
development.
 They can cause
miscarriages, retard
prenatal growth,
and produce
congenital
anomalies or mental
retardation.
Causes

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 5 group of teratogens:
 (1) infectious diseases and agents
 (2) physical agents, such as radiation
(3) drugs and chemical agents
 (4) maternal metabolic and genetic
factors diabetes
 (5) paternal factors
 Rujuk http://www.answers.com/topic/congenital-disorder
Causes

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Resiko
 Paternal
Faktor

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25. Test diagnostik
 Amniosintesis  vilikorion
 USG
 dsb
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26. Pencegahan
 Bbrp  tidak dapat dicegah
 Menurunkan resiko
 Merokok, asap rokok
 Alkohol
 Narkoba
 Gizi  Asam folat, vitamin,mineral
 Aktivitas istirahat
 Pemeriksaan prenatal
 vaksinasi
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27. Vaksinasi
 Tidak semua aman  dilaksanakan
sebelum hamil lebih baik
 MMR  3 bln before
 Varicella  1 bln before
 Bosterteta tetanus- difteri  /10 yr
 Hepatitis A
 Hepatitis B
 Influenza
 Pneumokokus
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28. Zat berbahaya  teratogenik
Obat efek
Ace inhibitor Renal displasia
Alkohol Defek jantung, mikrosepali
Klorokuin Chorieretinitis, ketulian
Dietilstilboestrol Malformasi uterus, adenocarcinoma vagina
Lithium Defek jantung
Phenitoin Defek jantung CLP
Retionoid Defek mata dan telinga, hidrosepalus
Streptomisin Ketulian
Tetrasiklin Hipoplasia enamel gigi
Thalidomid Phocomelia, abnormalitas jantung dan
telinga
Asam valproat Karakter wajah
Warfarin Hipoplasia nasal 28

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Nuwun….