Screening penyakit genetikaDr bambang edi

Editor : yayan

Halohaa mav teman2 editannya telat trus juga rada membingungkan soalnya flashdisnya dr bambang ilang huhuhu editor jadi bingung hooo. Mav ya kalo translate nya agak berantakan :p oia yang q artiin itu yang penting2 aja yaaa plus yang uda diterangin ma dr bambang

Assalamualaikum

Mulai aja yaaa

Sebenarnya penyakit genetika itu tidak selalu berhubungan dengan teknologi mutahir tapi penyakit genetika dapat diketahui dengan menggambarkan genogram yang minimal digambarkan minimal 3 generasi , melalui anamnesis. Tuh kan ilmu anamnesiskan ilmu lama Ternyata anamnesis t penting ya teman2 bisa tau penyakit genetika.

Genetic screening

Genetic screening is used to determine whether a couple is at increased risk of having a baby with a hereditary genetic disorder. Any couple can request genetic screening, but screening is particularly recommended when one or both partners know they have a genetic abnormality, when family members have a genetic abnormality, or when partners belong to a high-risk ethnic group. Genetic screening involves assessing the couple's family history and sometimes undergoing blood tests or genetic tests.

Genetic screening digunakan pada pasangan yang memiliki resiko memiliki bayi dengan penyakit genetic yang menurun. Banyak pasangan menginginkan di adakannya genetic screening, namun screening hanya disarankan ketika salah satu pasangan diketahui memiliki abnormalitas, trus ketika keluarga memiliki abnormalitas gen, dan ketika seseorang adalah salah satu dari etnik yang mempunyai resiko mengalami penyakit genetika, bukan kaya mongoloid face loh … kata bpaknya kosa kata itu uda g dipake lagi soalnya cenderung berbau SARA .. :p

Family History Assessment

To determine whether a couple has an increased risk of having a baby with a genetic disorder, doctors ask the couple about the following:

Untuk memutuskan bahwa pasangan memiliki resiko memiliki bayi dengan masalah genetic, dokter menanyakan mengenai :

Disorders that family members have had

Penyakit yang diderita anggota keluarga

The cause of death in family members

Penyebab kematian anggota keluarga

The health of all living first-degree relatives (parents, siblings, and children) and second-degree relatives (aunts, uncles, and grandparents)

Kesehatan dalam hidup mulai dari tingkatan pertama seperti orang tua,saudara dan anak dan tingkatan kedua seperti bibi dan paman

Miscarriages, stillborn babies, or babies who have died soon after birth

Keguguran, mati lahir, atau bayi yang meninggal setelah lahir

Babies with birth defects

Bayi dengan cacat lahir

Intermarriages among relatives (which increases the risk of having the same abnormal gene)

Pernikahan dengan saudara (dapat meningkatkan resiko timbulnya penyakit genetika)

Ethnic background (certain groups are at higher risk of certain disorders)

Latarbelakang etnik tertentu yang memiliki resiko mengalami penyakit tertentu.

Information about three generations is usually needed. If the family history is complicated, information about more distant relatives may be needed. Sometimes doctors review the medical records of relatives who may have had a genetic disorder.

Informasi dari 3 generasi juga selalu dibutuhkan. Jika family history sudah lengkap, maka informasi saudara jauh mungkin juga diperlukan. Kadang dokter mereview juga catatan medis dari keluarga yang memiliki penyakit genetika.

Carrier Screening

Carriers are people who have an abnormal gene for a disorder but who do not have any symptoms or visible evidence of the disorder.

Carier adalah orang yang memiliki gen yang abnormal tetapi tidak menunjukkan gejala yang terlihat dari penyakit tersebut.

People can be carriers if the abnormal gene is recessive—that is, if two copies of the gene are needed to develop a disorder

Seseorang menjadi carier apabila abnormal gen nya itu resesive.

Only women can carry an X-linked (sex-linked) recessive gene. Women have two X chromosomes. Thus, on the other X chromosome, the corresponding gene may be normal and protect women from developing the disorder. (Because men have only one X chromosome, all men who have an abnormal X-linked recessive gene have the resulting disorder, which is often fatal early in life.)

Hanya wanita yang dapat membawa X linked gen resesive. Kan wanita memiliki 2 X kromosom. Jadi, di kromosom X yang lain, kromosomnya mungkin normal dan meproteksi wanita itu dari perkembangan penyakit.

Carrier screening involves testing people who do not have symptoms but are at higher risk for carrying a recessive gene for a particular disorder. Risk is higher when one or both partners have a family history of certain disorders or have characteristics (such as ethnic background or racial or geographic group) that increase the risk of having certain disorders. However, screening is done only if the following criteria are also met:

Carrier screening ini dilakukan pada orang yang tidak memiliki gejala tapi memiliki resiko tinggi untuk membawa gen resesif. Resiko meningkat ketika kedua pasangan memiliki riwayat keluarga yang mengalami penyakit genetika. Bagaimanapun, screening hanya ditujukan untuk :

The disorder is very debilitating or lethal.

Penyakit yang letal

A reliable screening test is available.

Test yang terpercaya itu tersedia

The fetus can be treated, or reproductive options (such as abortion or elective sterilization) are available and acceptable to the parents.

Janin bisa diobati misalnya hipothiroid ternyata janinnya bisa diobati selama 3 bulan atau ada pilihan lain sperti aborsi dlll

In the United States, examples of disorders that meet these criteria include sickle cell anemia, the thalassemias, Tay-Sachs disease, and cystic fibrosis.

Di USA penyakit nya antara lain sickle cell anemia, the thalassemias, Tay-Sachs disease, and cystic fibrosis.

Carrier screening usually consists of analyzing the DNA from a blood sample. But sometimes a sample of cells from the inside of the cheek is analyzed. People provide the sample by swishing a special fluid in their mouth, then spitting it into a specimen container, or by rubbing a cotton swab inside their cheek.

Carrier screening selalu terdiri dari analisis DNA dari contoh darah. Tapi kadang sampel sel juga bisa digunakan.

If carrier screening indicates that both partners have a recessive gene for the same disorder, they may decide to have prenatal diagnostic testing. That is, the fetus may be tested for the disorder before birth. If the fetus has the disorder, treatment of the fetus may be possible, or termination of the pregnancy may be considered.

Jika carrier screening mengindikasikan pasnagn itu memilii gen resisif dari penyakit yang sama maka bisa diputuskan untuk menjalani prenatal diagnostic testing.

Several factors increase the risk of having a baby with a chromosomal abnormality

Beberapa factor yang meningkatkan resiko mempunyai bayi dengan abnormalitas pada kromosom

Woman's age: The risk of having a baby with Down syndrome increases with a woman's age—steeply after age 35

Umur ibu : resiko memiliki anak sindrom down meningkat ketika ibu mencapai usia 35 tahun

Family history: Having a family history (including the couple's children) of a chromosomal abnormality increases the risk. If a couple has had one baby with the most common form of Down syndrome (trisomy 21) and the woman is younger than 30, the risk of having another baby with a chromosomal abnormality is increased to about 1%.

Riwayat keluarga : mempunyai anggota keluarga yang memiliki penyakit genetika maka akan meningkatkan resiko mempunyai penyakit serupa.

Birth defect in a previous baby: Having had a live-born baby with a birth defect or a stillborn baby—even when no one knows whether the baby had a chromosomal abnormality—increases the risk of having a baby with a chromosomal abnormality. About 30% of babies born with a birth defect and 5% of visibly normal stillborn babies have a chromosomal abnormality.

Kecacatan saat lahir : memiliki bayi hidup dengan cacat lahir atau meninggal saat lahir.

Previous miscarriages: Having had several miscarriages may increase the risk of having a baby with a chromosomal abnormality. If the fetus in a first miscarriage has a chromosomal abnormality, a fetus in subsequent miscarriages is also likely to have one, although not necessarily the same one. If a woman has had several miscarriages, the couple's chromosomes should be analyzed before they try to have another baby. If abnormalities are identified, the couple may choose to have prenatal diagnostic testing early in the next pregnancy.

Keguguran sebelumnya : pernah mengalami keguguran dapat meningkatkan resiko memiliki bayi yang mengalami abnormalitas gen

Chromosomal abnormality in a prospective parent: Rarely, a prospective parent has a structural chromosomal abnormality that increases the risk of having a baby with an imbalance in the amount of structure of his/her chromosomes. A chromosomal abnormality in one or both parents increases the risk, even if the affected parent is healthy and has no physical sign of the abnormality. Doctors suspect such an abnormality when couples have had several miscarriages, problems with infertility, or a baby with a birth defect. For such couples, the risk of having a baby with a serious chromosomal abnormality is increased, as is the risk of miscarrying.

Kromosom abnormal pada orangtuanya

Prenatal screening

Screening of the Pregnant WomanPengukuran lever dari substansi khusus di darah dapat membantu mengidentifikasi wanita dengan peningkatan resiko dari penyakit

Markers are usually measured at 16 to 18 weeks of pregnancy (during the 2nd trimester), when these measurements are fairly accurate. Other markers can be measured during the 1st trimester.

Pengukuran dapat dilakukan dapa minggu 16-18 dari kehamilan, ketika pengukuran menjadi akurat. Atau bisa juga pada trisemester pertama.

First-Trimester Screening

Sometimes blood tests to estimate the risk of Down syndrome are done at about 11 to 14 weeks of pregnancy. These tests involve measuring levels of pregnancy-associated placental protein A (produced by the placenta) and beta-human chorionic gonadotropin in a pregnant woman's blood.

Also, ultrasonography is done to measure a fluid-filled space near the back of the fetus's neck (called fetal nuchal translucency). Abnormal ultrasound measurements indicate an increased risk of Down syndrome or another chromosomal abnormality in the fetus.

Kadang-kadang pemeriksaan darah untuk memperkirakan resiko down syndrome pada 11-14 minggu kehamilan. Tes ini dapat berupa pengukuran dari placental protein A (yang diproduksi oleh plasenta) dan beta-human chorionic gonadotropin yang ada pada wanita hamil

USG dapat digunakan untuk pengukuran adanya masa cair di sela antara leher janin (disebut fetal nuchal translucency). Abnormalitas pada USG dapat menaikkan resiko sindro down.

First-trimester tests give results earlier than 2nd-trimester screening, which has been the traditional approach for over two decades. Abortion, if desired, is safer when done earlier.

Second-Trimester Screening

During the 2nd trimester, markers in the pregnant woman's blood are measured and sometimes ultrasonography is done to identify women at increased risk of certain problems.

Selama trisemester kedua, marker di darah wanita hamil diukur dan kadang USG juga dapat mengidentifikasi meningkatnya resiko.

Important markers include the following:

Alpha-fetoprotein: A protein produced by the fetus Estriol: This hormone's precursors are produced by the fetus Human chorionic gonadotropin: A hormone produced by the placenta Inhibin A: A hormone produced by the placenta

At some medical centers, targeted ultrasonography (a genetic sonogram) is done during the 2nd trimester to help estimate the risk of a chromosomal abnormality. Targeted ultrasonography aims to identify certain structural birth defects that indicate an increased risk of a chromosomal abnormality. This test can also detect certain variations in organs that do not affect function but may indicate an increased risk of a chromosomal abnormality. However, normal results do not necessarily mean that the risk of a chromosomal abnormality is reduced.

Dibeberapa rumah sakit, target dari USG adalah pada trisemester kedua untuk membantu perkiraan resiko dari kromosom yang abnormal. Target dari USG sendiri adalah untuk mengetahui kecacatan pada janin yang beresiko mengalami abnormalitas kromosom.

Combining 1st- and 2nd-Trimester Screening: For the most accurate results, both groups of tests—1st-trimester tests and 2nd-trimester tests—are done, and results from both are analyzed together.

Kombinasi antara 1st- and 2nd-Trimester Screening adalah lebih akurat.

Procedures

Several procedures can be used to detect genetic and chromosomal abnormalities. All, except ultrasonography, are invasive (that is, they require insertion of an instrument into the body) and have a slight risk for the fetus.

Beberapa prosedur bisa digunakan untuk mendeteksi adanya abnormalitas pada genetic dan kromosom.

UltrasonographyUltrasonography is commonly done during pregnancy It has no known risks for the woman or fetus. Ultrasonography can do the following:

USG adalah hal yang biasa saat hamil. Ini untuk mengetahui resiko dari ibu dan janin. USG dapat:

Confirm the length of the pregnancy

Mengkonfirmasi umur kehamilan

Locate the placenta

Lokasi plasenta

Indicate whether the fetus is alive

Mengindikasi tanda2 janin yang hidup

After the third month, detect certain obvious structural birth defects, including those of the brain, spinal cord, heart, kidneys, stomach, abdominal wall, and bones

Setelah bulan ke3, mendeteksi pembentukan organ2

In the 2nd trimester, detect findings that tend to indicate a higher-than-normal chance of a chromosomal abnormality in the fetus (targeted ultrasonography)

Di trisemester ke2, mendeteksi indikasi abnormalitas kromosom

Fetal Ultrasound Scanning

Ultrasonography is often used to check for abnormalities in the fetus when a pregnant woman has abnormal results on a prenatal blood test or a family history of birth defects. However, normal results do not guarantee a normal baby because no test is completely accurate. Results of ultrasonography may suggest chromosomal abnormalities in the fetus, but ultrasonography cannot identify the specific problem. In such cases, amniocentesis may be recommended.

USG kadang digunakan untuk mengetahui abnormalitas di fetus ketika janinnya memiliki abnormatitas pada pemeriksaan darah atau riwayat keluarga. Bagaimanapun, hasil yang normal tidak menjamin bayi yang normal karena tidak ada test yang sempurna keakuratannya. Hasil USG mungkin dapat memberikan kesan abnormalitas pada kromosom tetapi tidak dapat mengetahui masalahnya. Amniosintesis disarankan untuk beberapa kasus.

Ultrasonography is done before chorionic villus sampling and amniocentesis to confirm the length of the pregnancy so that these procedures can be done at the appropriate time during the pregnancy. During these procedures, ultrasonography is used to monitor the fetus and to guide placement of instruments.

USG dilakukan sebelum chorionic villus sampling dan amnionsintesis untuk menkonfirm lama kehamilan, jadi prosedur ini bisa menetapkan waktu selama kehamilan. Selama prosedur, USG digunakan untuk memonitor janin dan memandu penempatan instrument.

Chorionic Villus Sampling

In chorionic villus sampling, a doctor removes a small sample of the chorionic villi, which are tiny projections that make up part of the. This procedure is used to diagnose some disorders in the fetus, usually between 10 and 12 weeks of pregnancy. Chorionic villus sampling may be used instead of amniocentesis unless a sample of amniotic fluid is needed, as when the alpha-fetoprotein level in amniotic fluid must be measured.

Di Chorionic villus sampling, dokter memindahkan sampel kecil dari chorionic villi,. Prosedur ini digunakan untuk mendiagnosis beberapa penyakit di janin, biasanya antara 10-12 minggu khamilan. Chorionic villus sampling mungkin digunakan daripada amnionsintesis kalau sampel dari amnionsintesis diperlukan, ketika level alphafetoprotein harus diukur

The main advantage of chorionic villus sampling is that its results are available much earlier in the pregnancy than those of amniocentesis. Thus, if no abnormality is detected, the couple's anxiety can be relieved earlier. If an abnormality is detected earlier and if the couple decides to terminate the pregnancy, simpler, safer methods can be used. Also, early detection of an abnormality may enable doctors to treat the fetus appropriately before birth. For example, a pregnant woman may be given a corticosteroid to prevent male characteristics from developing in a female fetus that has congenital adrenal hyperplasia. In this hereditary disorder, the adrenal glands are enlarged and produce excessive amounts of male hormones (androgens).

Manfaat utama dari chorionic villus sampling adalah hasilnya yang didapat lebih mudah di kehamilan daripada pada amnionsintesis. Jadi jika tidak ada abnormalitas terdeteksi, maka kecemasan pasangan dapat sedikit berkurang. Naah kalo misalnya terdeteksi abnormalitas lebih cepat pada janinnya maka akan lebih cepat pula doctor melakukan pengobatan, ato apalah. For example wanita hamil mungkin diberi kortikosteroid untuk mencegah karekteristik laki2 di janin perempuan yang memiliki kelainan konginetal adrenal hyperplasia. Pada kasus ini kelenjar adrenal membeesar dan memproduksi hormone androgen.

Before the chorionic villus sampling, ultrasonography is done to determine whether the fetus is alive, to confirm the length of the pregnancy, to check for obvious abnormalities, and to locate the placenta.

Sebelum chorionic villus sampling, USG digunakan untuk memutuskan apakah janinnya itu hidup, dan menkonfirmasi umur kehamilan, untuk menngecek abnormalitas, dan lokasi plasenta.

A sample of the chorionic villi can be removed through the cervix (transcervically) or the abdominal wall (transabdominally). With both methods, ultrasonography is used for guidance and the tissue sample is suctioned through a needle or catheter with a syringe and then sent for laboratory analysis. Many women have light spotting for a day or two afterward.

Sampel chorionic villus bisa diambil dari cervix (transcervically ) atau lewat dinding abdomen (transabdominaly). Dengan kedua metode in, USG digunakan untuk memandu pengambilan sampel, itu t loh pas masukin jarum biar g nusuk yang lain. Bahaya aborsi nya lebih tinggi yang mengambil sampel lewat cevix.

After chorionic villus sampling, most women who have Rh-negative blood and who do not have antibodies to Rh factor are given an injection of Rh0(D) immune globulin to prevent them from producing antibodies to Rh factor. A woman with Rh-negative blood may produce these antibodies if the fetus has Rh-positive blood and it comes into contact with her blood, as it may

during chorionic villus sampling. These antibodies can cause problems in the fetus. The injection is not needed if the father also has Rh-negative blood because, in such cases, the fetus always has Rh-negative blood.

Setelah chorionic villus sampling, sebagian besar wanita dg Rh negative dan yang tidak memiliki antibody pada Rh factor maka akan diberikan suntikan Rh D immunoglobulin untuk mencegah terbentuknya antibody pada factor Rh. Wanita dengan Rh negative mungkin memproduksi antibody jika janinnya Rh positif dan akan mengalami kontak dg darah ibunya, selama proses chorionic villus sampling. Antibody ini bisa bermasalah buat janin tersebut.

The risks of chorionic villus sampling are comparable to those of amniocentesis, with the most common risk being that of miscarriage. In experienced centers, the risk of miscarriage is about 1 in 500 procedures. Rarely, the genetic diagnosis is unclear after chorionic villus sampling, and amniocentesis may be necessary. In general, the accuracy of the two procedures is comparable.

Resiko chorionic villus sampling sebanding dengan amniosintesis, dengan resiko keguguran. Resiko keguguran adalah 1:500 prosedur.

Amniocentesis

One of the most common procedures for detecting abnormalities before birth is amniocentesis. It is often offered to women over 35 to estimate their risk of having a baby with Down syndrome. However, it can be done for any woman who chooses, even if her risk is not higher than normal.

Satu dari kebanyakan prosedur untuk mendeteksi abnormalitas sebelu lahir adlah amniosentesis. Ini sering dilakukan pada wanita yang berusia diatas 35 tahun yang bayinya memiliki resiko tinggi mengalami sindrom down. Walaupun g selalu seperti itu tapi wanita yang hamil di usia tua memiliki resiko tinggi memiliki anak yang mengalami down sindrom.

In this procedure, a sample of the fluid that surrounds the fetus (amniotic fluid) is removed and analyzed. Amniocentesis is usually done at 15 weeks of pregnancy or later. The fluid contains cells that have been shed by the fetus. These cells are grown in a laboratory so that the chromosomes in them can be analyzed. Amniocentesis enables doctors to measure the alpha-fetoprotein level in the amniotic fluid. This measurement more reliably indicates whether the fetus has a brain or spinal cord defect than measurement of this level in the woman's blood.

Dalam prosedur ini sampel dari cairan amnion diambil dan di analisis. Amnisentesis selalu dilakukan pada usia kehamilan 15 minggu. Isi cairannya adalah sel yang dilepaskan oleh janin. Trus selnya tumbuh di laboratorium sehingga kromosomnya dapat di analisis. Amniosentesis memungkinkan dokter untuk mengukur level alphaprotein di cairan amnion. Pengukuran ini indikasinya lebih dapat dipercaya untuk mendeteksi cacat otak dan syaraf spinal daripada mengukurnya pada darah perempuan.

Detecting Abnormalities Before Birth

Before the procedure, ultrasonography is done to evaluate the heart of the fetus, to confirm the length of the pregnancy, to locate the placenta and amniotic fluid, and to determine how many fetuses are present.

Sebelum melakukan peosedurnya, USG digunakan untuk mengevaluasi letak plasenta.

A doctor inserts a needle through the abdominal wall into the amniotic fluid. Sometimes a local anesthetic is first used to numb the site. During the procedure, ultrasonography is done so that the fetus can be monitored and the needle can be guided into place. Fluid is withdrawn, and the needle is removed. Results are usually available in about 1 to 2 weeks.

Occasionally, the amniotic fluid contains blood from the fetus. Such blood may increase the alpha-fetoprotein level, making the results hard to interpret.

Women who have Rh-negative blood are given Rh0(D) immune globulin after the procedure to prevent them from producing antibodies to Rh factor, which can cause problems in a fetus with Rh-positive blood.

Penjelasan dari amnionsintesis hamper sama kaya yang chorionic villus sampling

Amniocentesis rarely causes any problems for the woman or the fetus.

Soreness: Some women feel slightly sore for an hour or two afterward. Spotting of blood or leakage of amniotic fluid from the vagina: About 1 to 2% of the women

have these problems, but the problems do not last long and usually stop without treatment. Miscarriage: The chance of miscarriage due to amniocentesis is about 1 in 500 to 1,000. Needle injuries to the fetus: These injuries are very rare.

Amniocentesis can usually be done when a woman is pregnant with twins or even more fetuses.

Amniosentesis juga dapat digunakan untuk kehamilan kembar banyak. Katanya kalo lebih dari 3 gt digugurin 1 biar g premature … aduh kasian bener

Percutaneous Umbilical Blood Sampling

Percutaneous umbilical blood sampling is used when rapid chromosome analysis is needed, particularly toward the end of pregnancy when ultrasonography has detected abnormalities in the fetus. Often, results can be available within 48 hours. It is occasionally done for other reasons—for example, when doctors suspect that a fetus has anemia. If the fetus has severe anemia, blood can be transfused to the fetus during percutaneous umbilical blood sampling.

Percutaneous umbilical blood sampling digunakan ketika menginginkan kecepatan analisis kromosom, biasanya untuk kehamilan yang udah hamper lahir ketika USG dideteksi abnormalitas. Kadang2 hasilnya jadi dalam 48 jam.

The doctor first anesthetizes an area of skin over the abdomen. Guided by ultrasonography, the doctor then inserts a needle through the abdominal wall into the umbilical cord. A sample of the fetus's blood is withdrawn and analyzed, and the needle is removed.

Pertama dokter akan menanestesi area kulit sekitar abdomen. Dipandu dengan USG dokter memasukkan jarum melewati dinding abdomen di umbilical cord. Sampel dari darah janin akan di ambil dan dianalisis, jarum kemudian di ambil.

Percutaneous umbilical blood sampling is an invasive procedure and has risks for the woman and fetus. Loss of the pregnancy as a result of this test occurs in about 1 in 100 procedures.

Last full review/revision November 2008 by Jeffrey S. Dungan, MD; Sherman Elias, MD