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Congenital anomali - kehamilan

Arie kusumaningrumDISAMPAIKAN PADA KULIAH KESEHATAN REPRODUKSI

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congenital disorderdefinition

A is any medical condition that is present at birth. They are usually hereditaryA congenital disorder can be recognized before birth (prenatally), at birth, or many years later. can be a result of

genetic abnormalitiesthe intrauterine environmentunknown factors.

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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DefinitionA 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 birththey 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 anomalydefinition 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 congenitalmay not be expressed recognized until later in life. single-gene defects or

multiple-gene disorderschromosomal defects.

autosomal gene (a recess disorder) or (a dominant disorder).chromosom

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congenital metabolic disease

inborn error of metabolism. single gene defectsAffect structure of body parts and function

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Congenitaldiseases, 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

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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Literatur lain

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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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Test diagnostik Amniosintesis vilikorion USG dsb

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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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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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Zat berbahaya teratogenikObat efek

Ace inhibitor Renal displasiaAlkohol Defek jantung, mikrosepaliKlorokuin Chorieretinitis, ketulianDietilstilboestrol Malformasi uterus, adenocarcinoma vaginaLithium Defek jantungPhenitoin Defek jantung CLPRetionoid Defek mata dan telinga, hidrosepalusStreptomisin Ketulian Tetrasiklin Hipoplasia enamel gigiThalidomid Phocomelia, abnormalitas jantung dan

telingaAsam valproat Karakter wajahWarfarin Hipoplasia nasal 28

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Nuwun….