CONGENITAL MALFORMATION

• Gambaran Perkembangan Abnormal yang tidak bertalian gen atau chromosomes.

• Bentuk cacad sejak lahir dibedakan menjadi 2 kategori: Single Primary dan Malformation Syndrome

Single Primary defects vs. Multiple Malformation Syndromes

a. Single Primary defects melibatkan hanya 1 struktur. Sebagian yang paling umum adalah keseleo/kerusakan pinggul sejak lahir, bibir sumbing dan cacat pada septum jantung.• Etiologi belum diketahui. Berhubungan dangan

keturunan multifaktorial.

b. Multiple malformation syndromes: beberapa cacat diamati mempunyai ciri yang sama

• Etiologi. Dapat disebabkan oleh chromosomal kelainan, teratogens, kelainan pada gen tunggal atau mutasi gen. Kecuali Down sindrom terjadi satu dalam 3000 kelahiran hidup.

Penyebab • 42% Unknown, • 8% Teratogens, • 3% Maternal conditions

• Teratogen suatu agent atau faktor yang menyebabkan cacat fisik pada perkembangan embrio (Semua ba kimia, biologi atau fisik yang menyebabkan bertambahnya kemungkinan terjadinya cacat lahir)

3 agent utama meliputi:

1.  Obat, seperti.  – Thalidomide:  menyebabkan phocomelia, anomalies  pada

telinga, gigi – Warfarin:  menyebabkan hypoplasia hidung, shortened digits – Tetracycline:   menyebabkan enamel dysplasia

2.  Kondisi Maternal, seperti:  – Diabetes:  causes CHD – Alcoholism:  growth retardation, mental deficiency

3.  Infeksi Intrauterine, seperti:  – Rubella, CMV, – Toxoplasmosis Uterine factors:  Severe oligohydramnios

Genetic Disorders. ttp://www.som.tulane.edu/departments/peds_respcare/genetic.htm

“Non-Heritable” Birth Defects

• drugs (OTC/illegal)• chemicals• X-rays• oxygen deprivation• toxins

• infections• accidents/injuries• alcohol• nicotine• caffeine• poisons

Fetal Warfarin Effects Major Clinical Features

• nasal hypoplasia• depressed nasal bridge• skeletal stippling• mild hypoplasia of nails• short fingers• low birth weight• mental retardation

Hyperthermia Major Clinical Features

• defects dependent upon time of exposure

• mental deficiency• hypertonicity• neurogenic contractures• seizures• hormone deficiency

• microphthalmia• micrognathia• midfacial hypoplasia• external ear anomalies• cleft lip/palate• microcephaly

Radiation Exposure Major Clinical Features

• defects dependent upon dosage and time– high dose:

• lethal early in pregnancy• multiple malformations if later in pregnancy

– 2-10 rads:• very slight increased risk for birth defects if

between 2 and 4 weeks gestation– 2 rads:

• very low increased risk

Caffeine/Tobacco Major Clinical Features

• caffeine:– potential co-teratogen with tobacco

• tobacco:– miscarriages– reduced birth weight due to vasoconstriction– potential co-teratogen with caffeine

Fetal Alcohol SyndromeMajor Clinical Features

• prenatal growth deficiency

• thin upper lips• mental retardation• visual impairment• hearing loss• low nasal bridge• epicanthal folds

• indistinct philtrum• short palpebral fissures• flat midface• short nose• micrognathia• malformations of the

heart, kidney, eye, brain, ear, skeleton

Fetal Rubella EffectsMajor Clinical Features

• deafness• cataracts• patent ductus arteriosus• mental retardation• glaucoma

• septal defects• thrombocytopenia• hepatosplenomegaly• interstitial pneumonia

Amelia/PhocomeliaMajor Clinical Features

Amelia:– complete absence of limb/limbs

• Phocomelia:– microbrachycephaly– mild to severe mental deficiency– growth deficiency– cleft lip and/or cleft palate– sparse hair– cryptorchidism

(Thalidomide exposure)

Bentuk cacad sejak lahir adalah suatu cacat struktural itu diakibatkan oleh suatu kesalahan morphogenesis

Changing Pattern of Congenital Malformation in Past Ten Years in a Regional Perinatal Center

Changing Pattern of Congenital Malformation in Past Ten Years in a Regional Perinatal Center