Genetic clarifications and examinations before and during pregnancy
Most children are born healthy but in each pregnancy, even when there is no family background, there is a small risk (about -3%) that a child will be born with a disease or a congenital defect.
It is not possible to prevent all congenital malformations, but since some of the malformations are caused by genetic factors, the goal of family and genetic clarifications is to try to discover couples who are at increased risk and to provide them with appropriate genetic advice.
It is preferable to do the clarifications before the onset of pregnancy, but it can be done during pregnancy as well. Genetic clarification is done by collecting data and screening tests, which are generally blood tests.
Questions and answers on the subject of genetic clarifications
Where should I go for the examination?
There are many places where the examination can be conducted, but it must be ensured that the place where the examination takes place is approved by the Ministry of Health to conduct genetic examinations. You should contact your health plan, as there may be an agreement to reduce payments at one of the laboratories that perform the examination.
Couples who have a history of disease in the family or are interested in information about other genetic diseases that can be tested, they should go to genetic institutes or clinics to coordinate an individual private consultation. (You should ask your health plan if there is an agreement to reduce payments).
Does the Ministry of Health participate in financing the examinations?
Genetic screening tests for carriers of four genetic diseases (T-Zachs, beta thalassemia, cystic fibrosis, and autoimmune loss) are carried out with the funding of the Ministry of Health, without any financial commitment on the part of the subject. With regard to all examinations for other diseases, although there are medical recommendations, these examinations are not included in the basket of health services and involve payment for them. Most HMOs partially participate in the cost of the examination through additional health services ("supplementary insurance").
What are the genetic tests that should be done?
There are genetic tests recommended for the entire population, and there are genetic tests recommended according to origin (origin).
Who should be tested? The wife or the husband?
In most cases, it is not important who undergoes the examination. But there are exceptions in rare cases.
In the examination of the fragile X syndrome: the syndrome appears only when it is transmitted by women, and therefore the examination is performed in women in the heart.
When is it necessary to conduct tests to discover carriers of genetic diseases?
It is recommended that it be performed as early as possible, before or during the first pregnancy. The results of the examinations apply to all pregnancies in the same couple, but at the beginning of each pregnancy it is advisable to clarify whether there are recommendations for additional examinations. In the case of pregnancy with another husband, you must inquire if there is a need for additional clarification.
Does the Ministry of Health recommend that every man and woman who wants to get married undergo genetic screening tests before marriage?
The Ministry of Health recommends that men and women consider, based on the information presented here, whether they should undergo genetic testing before marriage and before establishing a relationship between them on the path of parenthood. These tests contribute to providing information about the risk that they, as a couple, will have children with serious genetic diseases.
Should married couples perform these tests?
It is highly recommended that married couples planning to have children consider genetic screening tests. In the event that it is found that they are at risk of having a child with a serious genetic disease, they deserve fetal examinations during pregnancy to ensure that the fetus is really healthy. In the event that the fetus is found to be ill with a serious genetic disease, the couple can consider terminating the pregnancy through medical methods. When examinations are carried out before pregnancy, couples can reach decisions with less stress and there is also the possibility of an early examination.
Is it important for a pregnant woman and her husband to undergo genetic screening tests?
Certainly, because in the event that the spouses are found to be carrying a disease, the fetus can be examined during all stages of pregnancy.
عندما يتم فحصي بحثًا عن أي مرض ، هل يمكنني التأكد من أنه لن يولد أي طفل مصابًا بالمرض؟
لا. إن احتمالية ولادة هذا الطفل بدون مرض تقترب من 100٪ ، لكن الفحص لا يستبعد تمامًا وجود المرض.
هل هناك فحوصات وراثية لا يجب إجراؤها؟
من المحتمل جدا. يجب أن نتذكر أن قرار إجراء الاختبار هو قرار قد يكون له تأثير على مستقبلك ومستقبل عائلتك. لذلك ، من المهم للغاية أن يفهم الجميع جيدًا أهمية الاختبارات وما إذا كانت الامتحانات مناسبة لعقيدتهم.
ماذا نعني بمرض وراثي خطير بشكل خاص؟
يُعرَّف المرض الوراثي بأنه "خطير بشكل خاص" إذا تسبب في الوفاة في سن مبكرة أو تسبب في معاناة شديدة ، ولا يوجد علاج له ، أي لا توجد إمكانية للشفاء منه. الطريقة الوحيدة لتقليل المعاناة المرتبطة بهذه الأمراض هي من خلال الوقاية.
ما هو "التكرار العالي" نسبيًا لمرض وراثي بين السكان الذين تم فحصهم؟
يعتبر المرض الوراثي شائعًا نسبيًا إذا ظهر بمعدل أكثر من 1 من كل 15000 ولادة (1: 15000) ؛ يشير هذا التردد إلى نسبة عالية من حاملي الأمراض.
كيف يمكننا معرفة ما إذا كان هناك خطر الإصابة بمرض وراثي؟
يمكن معرفة ذلك من خلال اختبار الفحص (اختبارات الدم) لكلا الزوجين. غالبًا ما يتم إجراء الاختبارات على مرحلتين. أولاً ، يتم فحص أحد الزوجين وفقط حسب الحاجة ، يتم فحص الزوج الآخر.