Common Questions

Ultrasound and screening during pregnancy

You should consult your doctor to make a decision and receive suitable caret as soon as possible. All in all,  If the NT thickness is more than 3.5 mm, amniocentesis is recommended. If the ratio of NT size to CRL (fetal length) is more than 95% (above the 95th percentile), NIPT and fetal heart echo and genetic ultrasound are recommended.

Yes, Hope Generation Institute is the only center that can measure amniotic fluid alpha-fetoprotein (AFP) concentration in those undergoing amniocentesis for any reason, based on which the risk of nerve cord disorders is calculated. If the amniotic fluid alpha-fetoprotein concentration increases, amniotic fluid acetylcholinesterase is measured. If amniotic fluid acetylcholinesterase is positive even though ultrasound findings are normal, the diagnosis of neural tube disorders (NTDs) is confirmed.

If the abnormality is definite, it will be treated according to the diagnostic protocols according to the type of anomaly and its severity.

If a problem is observed in the fetus, according to the type of anomaly observed, it should be determined whether the above anomaly is one of the cases in which the forensic doctor allows abortion or not, and in general, when an anomaly is observed in the fetus, it is necessary to consult with perinatologist colleagues.

Research is currently underway to understand the effects of COVID 19 infection on expectant mothers. Information about this virus is limited, but there is currently no evidence that pregnant mothers are at greater risk of severe disease than the general population. However, due to changes in the body and immune system during pregnancy, we know that pregnant mothers can be affected by some respiratory infections. Therefore, it is very important that they take precautions to protect themselves from COVID-19 and report possible symptoms (including fever, cough, or difficulty breathing) to their doctor.

Corona laboratory diagnosis protocols and their eligibility vary depending on where you live. However, WHO (World Health Organization) recommendations are that pregnant mothers with symptoms of COVID-19 should be prioritized for testing. Because this group may need specialized care if they have COVID-19. But remember that a negative test for the coronavirus does not rule out 100% infection. Therefore, in the conditions of the spread of this virus, take the health recommendations seriously and be sure to consult your doctor before doing the test.

Pregnant mothers should take the same preventive measures as everyone else to avoid contracting COVID-19. You can protect yourself by using the following: Wash your hands regularly with alcohol wipes or soap and water. Remember that frequent and thorough hand washing with soap and water is the best way to prevent the virus./ Keep the distance between yourself and others (at least 1.5 to 2 meters) and don't be in crowded spaces./ Avoid touching your eyes, nose, and mouth./ When you sneeze or cough, cover your mouth and nose with a tissue or, if not available, with your elbow. Throw the used tissue in the bin with the door./ If you have a fever, cough, or difficulty breathing, contact your doctor or the nearest health center immediately./ Remember that expectant mothers, even those affected by COVID-19, should attend their usual care appointments (prenatal screening, routine prenatal care, etc.). But they must follow the health recommendations (use of masks, gloves,...)

It seems that the coronavirus is mainly transmitted through close contact with an infected person and respiratory particles or by surfaces contaminated with the virus. The issue of whether a pregnant mother can transmit the coronavirus to her fetus or her baby after delivery has not yet been fully investigated. But there are reports that fortunately mothers and babies who tested positive are doing well. However, this issue needs more research.

  • Staying at home for pregnant mothers does not mean absolute rest, because the possibility of blood clots in pregnant women is more than in other people. Pregnant mothers should be active at home, consumption of warm liquids is recommended for this group of mothers.
  • Pregnant mothers should contact their doctor or medical center in case of visible symptoms such as excessive weight gain or swelling of hands and face.
  • Pregnant mothers can monitor the health of the fetus by monitoring its movements, and if they notice a decrease in the movement of the fetus, they should contact their doctor or a medical center.
  • Pregnant mothers should not travel in closed and crowded environments.
  • If the weather is clean and suitable, pregnant mothers can be in the sunny weather for a short and limited period by following the health tips.
  • At present, anxiety and worry resulting from the spread of Corona are very common, therefore pregnant mothers are advised to avoid stress and contact a psychologist/psychiatrist if needed to better control their anxiety.

Ultrasound (screening) in the third trimester is performed at 28-30 weeks of pregnancy and the purpose is to check and find anomalies in the fetus that could not be identified during the screening of the second trimester. 38.5% of anomalies are detected in the third-trimester screening and this group of anomalies is called Late Onset Anomaly. For example, about 40% of urinary system anomalies can be detected after 24 weeks. Also, anomalies in the digestive system of the fetus can generally be examined and identified after the 24th week of pregnancy. Of course, anomalies such as umbilical hernia or gastroschisis (abdominal wall closure defect) can be investigated and identified during the screening during the first trimester of pregnancy. Diseases related to the skeletal system of the fetus(Bone dysplasia) can generally be identified after the 24th week of pregnancy. It should be noted that the severe forms of bone dysplasias that cause stillbirth or the birth of a baby with low breathing capacity and cause death after birth can be identified during the screening of the second trimester.

It can be done from the 11th week of pregnancy to the 13th week of 6 days so that the fetal length (CRL) is in the range of 45 to 84 mm.

If you don't have an ultrasound to calculate the gestational age, don't worry. In the screening ultrasound, the length of the fetus is measured first. If the gestational age is suitable, the first-trimester screening is done, otherwise, you will be guided.

Your screening ultrasound must have the necessary criteria to record information in the institution's risk assessment software so that we can use this ultrasound for screening. Therefore, contact HopeGene Medical Institute to answer this question.

no Mental retardation has different causes, in this screening, only three chromosomal disorders, i.e. Down's syndrome, Edward's syndrome, and Pato's syndrome is screened

no Answers are based on probabilities. The accuracy of this screening is 90-94%, there is a 6-10% chance of error.

It is recommended to consult as soon as possible so that they can guide you about diagnostic tests (amniocentesis or CVS) or supplementary tests (NIPT) based on the mother's age and gestational age and other conditions.

Yes. Because the screening of the second trimester is done only by measuring the amount of four hormones Inhibin - A, AFP, UE3, and Total - hCG in the mother's blood.

Genetic and perinatology counseling and targeted ultrasound (spinal cord) are recommended.

  • Yes, HopeGene Medical Institute is the only center that can measure amniotic fluid alpha photoprotein (AFP) concentration in those undergoing amniocentesis for any reason, based on which the risk of nerve cord disorders is calculated. If the amniotic fluid alpha-photoprotein concentration increases, amniotic fluid acetylcholinesterase is measured.
  • If amniotic fluid acetylcholinesterase is positive even though ultrasound findings are normal, diagnosis of disorders
  • Neural tube defects (NTDs) are recorded.

Considering that the common defects and syndromes under investigation, including Down's syndrome (trisomy 21), Edward's syndrome (trisomy 18), and Pato's syndrome (trisomy 13) are also seen in families that have no history, so it is recommended Let all women at any age perform screening tests for chromosomal abnormalities and necessary ultrasounds. On the other hand, in the ultrasound of the first trimester, the fetal length (CRL), which determines the gestational age, is measured accurately and according to the standards of the International Fetus Association (FMF), which determines the importance of determining the age and growth of the fetus in the design of pregnancy. It is basic.

Screening for chromosomal abnormalities: If ultrasound indicators are combined with laboratory indicators (Free β-hCG and PAPP-A) and maternal age, the number of women needing an invasive test will significantly decrease from about 20 to less than 3%, and at the same time, the amount It increases the diagnosis of Down syndrome and other chromosomal disorders from less than 50% to more than 95%.Accurate determination of gestational age.

With early diagnosis of many fetal disorders, in affected fetuses, pregnancy can be terminated earlier and with fewer complications. Screening of pregnant mothers for pre-eclampsia: The 11-13 week scan can be used to identify women at increased risk of developing pre-eclampsia (preeclampsia) during pregnancy. (In this center, in the ultrasound of the first trimester of pregnancy, color doppler ultrasound is performed with an advanced method to screen for pregnancy poisoning.)

A second-trimester screening ultrasound is done between the 16th week of pregnancy and the 22nd week of pregnancy. In pregnancies whose age is well determined and it seems that they do not need amniocentesis, the examination at 20-22 weeks is optimal. Also, if the age of pregnancy is not well determined, early scanning is required to determine the exact age and anatomical examination. In Iran, it should be noted that if there is an anomaly that requires a legal abortion, a forensic doctor is needed to obtain a legal abortion license before 18 weeks and 6 days, so it is better to schedule the time of the anomaly scan in a form so that if there is Anomaly leading to abortion, its diagnosis should be done before 18 weeks and 6 days.

If the NT is equal to or more than 3mm in the first-trimester screening and the diagnostic tests are Low Risk, in this case, an anomaly. The scan will be performed in the 16th week, and if NF is reported to be more than 6mm, diagnostic tests need to be performed to check TORCH. Infectious diseases transmitted from mother to fetus) and if NF is less than 6mm, it is necessary to repeat the anomaly scan in the 18th week of pregnancy and perform an echocardiography of the fetus. In societies where the laws are based on the Sharia of the religion of Prophet Moses (PBUH), the time of anomaly is in the 16th and 17th week, so that if the fetus has an anomaly leading to legal abortion, it can be determined before the 18th week. Some centers recommend that the anomaly scan be done at 16 weeks so that it has the same time as the time of genetic investigation of amniocentesis or quadruple serum screening.

If no abnormality is observed in the examination of the fetus, the time of performing the sonogram of the anomaly scan is at least 30 minutes, and if there is an anomaly in the fetus, the examination time is more than one hour depending on the type of anomaly. In the ultrasound scan, all organs and organs of the fetus are examined and measured in a systematic and specific form, and the measurements are compared with the tables of reference books to determine how the fetus grows and develops and whether it is standard or non-standard. Determine the development of the fetus.

  1. When the mother is obese, the fat on the abdominal wall causes us to not be able to evaluate the fetus well, so it is recommended to repeat the abnormal ultrasound in the 24th week of pregnancy.
  2. When things like choroid plexus cysts are observed as an isolated finding in the examination of the fetus and it is recommended to perform anomalous sonography in the 25th week of pregnancy, because the above-mentioned cysts mostly disappear by the 25th week, and the sonographer must be sure about this. (An isolated finding is a finding that is not accompanied by a specific anomaly in the fetus and is observed in a low-risk fetus.)
  3. If during the ultrasound scan, it is observed that the uterine arteries have flow with There is a little resistance of the wings. It is necessary to re-examine the above-mentioned artery in the 25th week of pregnancy.

  • Since the fetus has grown in the second trimester of pregnancy, the examination of the fetus is cross-sectional and the entire fetus
  • cannot be seen in one scan. 

It is better if the bladder is half full.

About 60% of fetal anomalies are identified during the second-trimester anomaly scan, and a series of fetal anomalies, including/ anomalies related to the digestive system, urinary system, and bones, can be detected in the following weeks.



Screening for newborn metabolic disorders

Lethargy, laxity, whining, restlessness, frequent vomiting, weak sucking milk, weakness, difficulty in healing or breathing hard, seizures, difficulty in developmental skills in the child such as holding, laughing, rolling, sitting and etc.

It means the result of the screening test (newborn heel stick test) is positive, the confirmatory tests do not confirm the result and the baby hasn't related signs or symptoms. Actually, several conditions such as childbirth stress, infections during birth, mother use of antibiotics during pregnancy newborn use of antibiotics and etc., can cause a false positive result.

Lethargy, laxity and whining, restlessness, frequent vomiting in the child, not feeding well, poor sucking in the child, breathing disorder or difficulty breathing, seizures, delay in acquiring developmental skills in the child such as holding the neck, laughing, rolling, sitting and...

It may be necessary to repeat the test or perform more tests for three reasons: a) If the sampling of your baby was done within the first 24 hours after birth. b) If the blood sample is not suitable. (The conditions of sampling or sending the sample to the laboratory are not optimal) c) If there is an abnormal finding in the conducted test.

? Before trying to get pregnant, it is recommended to get specialized genetic counseling with your child's documents in hand. In this consultation, after drawing the genealogy and taking a detailed medical history, and checking the tests performed on the affected person, the analysis of the genealogy information is done, and based on that, the probability of the recurrence of this disease in your future children is explained. And the available solutions and tests are described with the description of the benefits and limitations and the success rate of the tests, etc. for having a child without metabolic disease similar to the affected child. In such cases, if the family wishes, it is suggested to first examine the affected person using the NGS technique. In the next step, if the disease-causing mutation is found and confirmed in the affected person, it is recommended to check and confirm the same mutation in the parents, and based on the results, diagnostic methods can be used before and during pregnancy, PGD and suggested PND. If your baby is diagnosed with metabolic disease, there is a possibility that your next child will also get this disease. In this case, it is necessary to consult a geneticist before the next pregnancy. Currently, there are accurate methods of prenatal diagnosis to identify and prevent the next child from being infected.

We cannot cure these diseases, but with early diagnosis and intervention, the dangerous complications of the disease can be controlled. The control of this group of diseases in the past was done by restricting the diets, and according to the type of disease, diets, drugs, synthetic enzymes, dialysis, etc. can be used. Of course, nowadays, various treatment methods such as gene therapy, enzyme therapy, bone marrow transplant, etc. have been introduced for a number of these diseases, and some of them have succeeded in obtaining the necessary approvals.

Primary cases refer to diseases that are included in the screening program from the beginning and their course is completely clear and treatable, and there is a sensitive and accurate test to confirm them. But some cases are accidentally found in the screening test that was not included in the program before, and those cases need to be investigated and followed up, which are known as secondary cases.

No, in some cases where the enzyme deficiency is mild, the test may be negative in infancy, and over time, symptoms may appear following stress such as infection-surgery or prolonged fasting. At any age, with the appearance of suspicious symptoms, metabolic tests should be repeated at the discretion of the attending physician. In cases where the baby is ill or hospitalized and not well fed, the test result may be falsely negative and the test should be repeated a few days after proper feeding.

No, this test is only a preliminary test for the possible diagnosis of the disease, and there is a possibility of a false positive error in it, and to confirm the disease, other additional tests must be requested depending on the case identified by the attending physician, and after that, the disease can be confirmed. The baby made a decision. In some special circumstances, depending on the discretion of the attending physician, it may be necessary to start treatment before the results of additional tests are ready to avoid serious complications.

After performing our screening test, the rest of the dried blood sample is stored on filter paper for use in future confirmatory tests. If the initial sample is small or the results are not satisfactory, it will be used. Also, this sample can be used in cases where the baby is lost and a definite diagnosis is needed for genetic tests.

No, in countries that are part of the national program, this test is conducted as a standard without obtaining permission from parents. In our country, only two congenital hypothyroid diseases and PKU are part of the national program that is routinely performed for all newborns, but other diseases that have not yet entered the national program are done after consulting the parents and if they wish, by signing a consent form. Takes.

Most babies are born healthy, only in a few cases they may have metabolic congenital diseases that are asymptomatic at birth, but if they become symptomatic, they will cause severe complications for the baby, so it needs quick intervention before this happens. These diseases can be identified and treated or prevented to a significant extent by screening tests before they become symptomatic. If the screening is done in the early days after birth, the chances of the affected child is treated on time will be higher.

It is better to feed the baby before and after sampling. The baby should be kept warm and the heel should be massaged before the sampling to ensure better blood flow.

  1. Be sure to contact HopeGene Medical Institute's Neonatal Metabolic Disease Screening Department at the scheduled time (2-7 days old) to determine the time and perform the screening of your baby.
  2. If you are contacted to perform more tests, act quickly because if your baby is suffering from these diseases, quick action is very important and decisive to control it.
  3. Before leaving the institution, make sure that your exact address and phone number are correctly registered and provided to the relevant medical staff. In case of a change of location, immediately inform HopeGene Medical Institute of the address and phone number of the new location.

This test is performed by taking a few drops of blood from the heel of the foot with a fine lancet and does not cause any harm to the baby except for the slight pain caused by the needle tip.

Metabolic diseases are a group of disorders in which the metabolism of one or more types of food (protein, sugar, fat) is problematic, and thus: The child cannot use these substances for growth and development. Consumption of milk as a baby food that contains these compounds on the one hand and the inability of the affected baby's body to use these foods, on the other hand, causes the accumulation of these compounds in his body, which can be very dangerous for him and a toxic state for him. Have.

As you know, the prevalence of these diseases among people is very low. It may be thought that these diseases should not be screened according to the standards due to their low prevalence. This is while we, using the Multiplex, MS/MS technique, will be able to evaluate more than 37 diseases by performing only one test. For this reason, the prevalence of these diseases increases from 1 in 1000 to 1 in 1500. Therefore, according to the World Health Organization, screening for these diseases is very appropriate and affordable.

After the birth of the baby, contact the Neonatal Metabolic Diseases Screening Department of HopeGene Medical Institute, and attend the institution at the appointed time. While you are holding your baby, one of the nurse colleagues or the laboratory technician will collect a few drops of a blood sample from the heel of your baby's foot, and then this blood sample will be referred to the newborn screening laboratory. These tests are very simple and risk-free, and the results are obtained in a short time.



Genetics

If there is a person suffering from hereditary and genetic disorders in the family, priority should be given to testing, and examining the affected person himself, and in the next step, if the affected person is not available, check the mandatory carriers or parents. The affected person (in cases of suspected autosomal recessive disorders or diseases caused by consanguineous marriage). Examining people based on the genealogy of possible disease carriers faces limitations and is not recommended.

 Genetic testing should be done after genetic counseling. In the course of the discussion, it will be determined whether such an experiment is necessary or not. In general, if genetic testing is necessary for an individual or a family, it is better to do it as soon as possible. For example, if the couple has visited before marriage, doing it at that time has priority over doing it after marriage. On the other hand, despite being informed about all aspects, some families sometimes postpone the investigations according to their opinion and choice until after marriage. However, if necessary, genetic tests must be done before pregnancy. If a family has not done these tests at the mentioned times for any reason, it is still better to do these tests as soon as possible (even in the early weeks of pregnancy).

Before trying to get pregnant, Specialist genetic counseling is recommended with the documents of sick people in the presence of couples. First of all, we should know that mental retardation has different causes, these causes are divided into two main groups, genetic and non-genetic, and their genetic causes are very diverse. It has a family in the affected person. As a result, genetic counseling is recommended before trying to get pregnant. In this consultation, after drawing a genealogy and taking a detailed history, the analysis of the genealogy information is done by a geneticist, and the probability of recurrence of this disease in the family is calculated based on the analysis and analysis of the genealogy, and since the causes of this The disease is different, the necessary genetic tests in the affected person are described in the order of importance, mentioning their benefits and limitations, and the appropriate steps based on the test results for the couple. So that the family can take action if they wish

Specialist genetic counseling is recommended with the patient's documents in hand. In this consultation, after drawing the genealogy, a detailed medical history is taken from the couple who are planning to get married and people with RP, then the analysis of the genealogy information is done by a genetic specialist, and based on that, the basic risk in family marriage ( caused by the common genes of the couple) and the probability of recurrence of the RP disease in the family is calculated, then the available solutions and tests are described with the description of the benefits and limitations for having children who do not have the same disease as the people in the family. It is worth mentioning that, if the family wishes, check genes related to hereditary eye diseases in affected people using the NGS technique. It can be done at HopeGene Institute, based on its results, solutions and next steps are presented with mention of benefits and limitations

Yes. In family marriages, genetic counseling is recommended before marriage. In this consultation, after drawing the genealogy and taking a detailed medical history of the couple and the affected person, and checking the answers to the results of the tests performed on individuals and questions about other hereditary diseases in the family, the analysis and celebration of the genealogy is done. Based on that, both the basic risk in family marriage (caused by the shared genes of the couple) and the risk of recurrence of hereditary hearing loss in your children and your future spouse will be specifically explained, and the necessary information about the available tests will be given. Genealogy analysis is given with an explanation of the benefits and limitations of having healthy children. (It should be noted that deafness has various causes, but more than half of the cases are genetic).

Because if there is an affected person in a family, the priority is to carry out a genetic test to check the affected person, it is recommended to prepare a blood sample from your child in special tubes (EDTA tube) and deliver it to the genetics laboratory for the DNA bank. Let his sample be available whenever you are ready to do the test.

Despite its high accuracy compared to other methods, this examination is not a diagnostic test and is classified as a screening test. Another important point is that this review covers only some chromosomes.

To know whether a person or a family needs to do a genetic test or not, they need to be consulted first. Genetic counseling must be done by a genetics specialist or a doctor trained and licensed for genetic counseling. It is important to remember that counseling before and after genetic testing is necessary.

There are different types of genetic tests. Some tests are based on chromosomal studies and some are based on DNA studies. For example, a screening test for Down's or Turner's syndrome or trisomy 18 and the like is a chromosomal examination. However, the study of monogenic diseases such as thalassemia and hemophilia or Duchenne's disease and the genetic causes of deafness and blindness and the like require DNA examination.

Any kind of medical test that is done to investigate a person's condition in terms of infection or probability of infection or whether he is a carrier in terms of diseases and genetic and hereditary conditions is called a genetic test.

No, there is no need to fast to perform any of the genetic tests.

These tests can be done on different samples. Some are performed on blood samples, some on tissue samples, and some on amniotic fluid samples or placental villi of the fetus and any nucleated cell in the body of a living or non-living person, fetus, etc.