ARTICLE

Trisomy is a type of chromosome disorder characterized by having 3 copies of chromosome 13

in cells of the body, instead of the usual 2 copies. In some affected people, only a portion of cells
contains the extra chromosome 13 (called mosaic trisomy 13), whereas other cells contain the normal
chromosome pair.

Trisomy 13 causes severe intellectual disability and many physical abnormalities, such as
congenital heart defects, brain or spinal cord abnormalities, very small or poorly developed eyes
(microphthalmia), extra fingers or toes, cleft lip with or without cleft palate, and weak muscle tone
(hypotonia). Most cases are not inherited and result from a random error during the formation of eggs
or sperm in healthy parents. Due to various life-threatening medical problems, many infants with
trisomy 13 do not survive past the first days or weeks of life.

Trisomy 13 is also called Patau syndrome, after the physician who first described the disorder.
Trisomy 13 occurs in about 1 in 16,000 newborns. Although women of any age can have a child with
trisomy 13, the chance of having a child with this condition increases as a woman gets older.

Most cases of trisomy 13 result from having three copies of chromosome 13 in each cell in the
body instead of the usual two copies. The extra genetic material disrupts the normal course of
development, causing the characteristic features of trisomy 13.

Trisomy 13 can also occur when part of chromosome 13 becomes attached (translocated) to
another chromosome during the formation of reproductive cells (eggs and sperm) or very early in fetal
development. Affected people have two normal copies of chromosome 13, plus an extra copy of
chromosome 13 attached to another chromosome. In rare cases, only part of chromosome 13 is present
in three copies. The physical signs and symptoms in these cases may be different than those found in full
trisomy 13.

A small percentage of people with trisomy 13 have an extra copy of chromosome 13 in only
some of the body's cells. In these people, the condition is called mosaic trisomy 13. The severity of
mosaic trisomy 13 depends on the type and number of cells that have the extra chromosome. The
physical features of mosaic trisomy 13 are often milder than those of full trisomy 13.

An error in cell division called nondisjunction results in a reproductive cell with an abnormal
number of chromosomes. For example, an egg or sperm cell may gain an extra copy of chromosome 13.
If one of these atypical reproductive cells contributes to the genetic makeup of a child, the child will
have an extra chromosome 13 in each cell of the body.
 Translocation trisomy 13 can be inherited. An unaffected person can carry a rearrangement of
genetic material between chromosome 13 and another chromosome. These rearrangements are called
balanced translocations because there is no extra material from chromosome 13. A person with a
balanced translocation involving chromosome 13 has an increased chance of passing extra material from
chromosome 13 to their children.

While most cases of trisomy 13 occur randomly, a few cases are due to the presence of a
translocation involving chromosome 13 in a parent. Parents who are at risk to have a translocation due
to their family history can have a blood test called a karyotype, which can determine if a translocation is
present.

Prenatal testing or screening (such as maternal blood screening, fetal ultrasound, chorionic villus
sampling, or amniocentesis) is also available to determine if a current pregnancy is at risk for, or is
affected by, trisomy 13 or other chromosome disorders. People with a family history of trisomy 13 who
are interested in learning about genetic screening or testing for themselves or family members are
encouraged speak with a genetic counselor or other genetics professional.

Treatment for trisomy 13 depends on the affected person's signs and symptoms, and is
generally symptomatic and supportive. Surgeries are generally withheld for the first few months of life
because of the high mortality rate associated with trisomy 13. Parents and medical personnel must
carefully weigh decisions about extraordinary life-prolonging measures against the severity of the
neurological and physical defects that are present and the likelihood of post-surgical recovery or
prolonged survival
DIALOGUE

Bidan : hallo ibu selamat pagi silahkan masuk..

Pasien : terimakasih..

Bidan : silahkan duduk ibu. Perkenalkan saya bidan erry, Ada yang bisa saya bantu? atau Ada keluhan
sekarang?

Pasien : iya bu saya Dena, saya mau periksa kehamilan.. akhir bulan ini taksiran persalinan saya. Ini
merupakan kehamilan pertama saya.

Bidan : baik ibu saya periksa tanda tanda vitalnya dulu ya..

Pasien : iya ibu..

Bidan : Tekanan darah ibu normal 110/80, silahkan ibu menimbang berat badan dulu disebelah sana..

Berat badan ibu 67 kg.. silahkan duduk kembali.. ibu ada keluhan apa saat ini?

Pasien : saya mulai mengalami kontraksi di bagian perut tapi jarang,pinggang saya juga mulai pegal..
kaki saya sedikit bengkak.. kenapa ya bu?

Bidan : iya itu keluhan yang normal di trimester 3 kehamilan ibu. Tanda baya trimester 3 seperti
penglihatan menjadi buram, pusing, nyeri ulu hati, tekanan darah menjadi tinggi disertai kaki
bengkak, terjadi perdarahan disertai nyeri atau tidak disertai nyeri perut. Jika ada salah satu
tanda tersebut silahkan ibu langsung ke rumah sakit terdekat ya..

Pasien : oh jadi itu macam – macam tanda bahaya trimester 3 kehamilan ya ibu?

Bidan : betul bu.. sekarang silahkan berbaring ditempat tidur dulu, saya periksa dulu detak jantung
janinnya..

Pasien : baik bu..

**

Bidan : silahkan duduk kembali ibu.. setelah saya periksa keadaan ibu dan janin sehat. Keluhan yang
ibu rasakan masih dalam batas normal, kecuali tiba-tiba ada tanda persalinan seperti kontraksi
mulai teratur setiap 5 menit sekali, lalu adanya lendir darah yang keluar, atau ada air mengalir
dari jalan lahir tapi ibu merasa tidak buang air kecil. Jika ada tanda – tanda yang saya jelaskan
sebaiknya ibu kontrol ke puskesmas atau klinik terdekat.

Pasien : baik ibu, lalu bagaimana cara untuk membedakan urine dan air ketuban?

Bidan : sebaiknya nanti ibu cium kalau urine itu berwarna dan baunya sedikit pesing, kalau air ketuban
dia berwarna keruh atau bias juga kehijauan dan terus menerus mengalir dan bau khas amis.
Pasien : iya ibu saya sudah jelas perbedaan urine dan air ketuban. Lalu apa saja kebutuhan menjelang
persalinan yang harus saya siapkan?

Bidan : ibu harus membawa peralatan untuk bayi seperti baju bayi, bedong bayi, handuk bayi,
pampers, sabun bayi, minyak telon. Peralatan untuk ibu baju bersih, kain panjang 2, handuk
bersih, dan pembalut ibu bersalin. Semua peralatan dimasukkan kedalam 1 tas supaya nanti ibu
lebuh gampang membawanya kalau kontraksi mulai teratur.

Pasien : iya ibu saya sudah mengerti.

Bidan : lalu ini saya berikan vitamin tambahan ya ibu.. ada kalsium diminum 2x1 dan ada zat besi
diminum 2x1.

Pasien : iya ibu..

Bidan : ada yang mau ditanyakan atau yang tidak jelas ibu?

Pasien : sudah ibu, saya jelas dengan informasi yang sudah diberikan.. terimakasih..

Saya pamit pulang dulu ya ibu..

Bidan : iya ibu hati – hati dijalan semoga sehat selalu…