16 Jun 2018
Carrier screening for genetic diseases Preconception, Early pregnancy test Genesis Perinatal Care Clinic
Carrier screening in early pregnancy.Advances in genotyping technology resulted in the fast and affordable sequencing of the human genome (genetic information). Conditions like cystic fibrosis (1/25 risk of being a carrier) and spinal muscular atrophy (1/47 -1/90 risk of being a carrier) thalassemias (almost 7% of women are carriers ) are relatively common conditions with a significant impact on the life of the affected individual. Expanded carrier screening can identify not only common recessive conditions but also rare ones. This was till recently offered only as a preconception test. However as Carrier screening can now be completed at a very fast pace it is an option to be considered as an early pregnancy test.
What is carrier screening?
Carrier screening is a type of genetic test that can tell you whether you carry a gene for certain genetic disorders. When it is done before or during pregnancy, it allows you to find out the chances of having a child with a genetic disorder
For some genetic disorders in order for the child to be affected, it needs to inherit the abnormal gene from both parents (autosomal recessive). Individuals who have one abnormal gene are most of the time asymptomatic meaning they do not have the disease or have a very mild form. However, they can pass the abnormal gene to their children. these individuals are called Carriers. For example, for Cystic fibrosis, the carrier is usually completely symptomatic while for B thallasemia the carrier might have mild anemia.
Who should have carrier screening?
It is currently recommended for women to consider having screening for cystic fibrosis, hemoglobinopathies and spinal muscular atrophy if they are planning to get pregnant
How is the testing done?
Usually, a sample of blood is required although some test uses saliva for swab taken from the mouth. The test comes as positive (you have an abnormal variant) or negative (you don’t). If you are found to be a carrier then your partner should be tested to determine his status
Normally you do not need to repeat the test in the future for the same mutation
Should everyone have carrier screening?
Carrier screening in most settings is a voluntary decision. The same applies to the extent of screening you will have. Meaning whether you will opt for a targeted screening or expanded
What is expanded carrier screening?
Current tests offer the option to test for more than 200 conditions. They usually focus on conditions that although rare are expected to have a major impact on the person’s quality of life
How accurate are the tests?
The tests are not perfect. There is a small risk of both false positive and false negative results. A negative – normal test does not guarantee that there no chance for genetic disorders because; 1 does not test for everything 2. there may be a variant mutation that is not detected by the test but still cause problems
What the test providers are trying to calculate for you is the residual risk; meaning the risk after you have a negative test
the following table gives an example for cystic fibrosis
Gregg et al Expanded Carrier Screening Obstet Gynecol Clin N Am 45 (2018) 103–112
At Genesis Perinatal Care Clinic we are offering the most comprehensive carrier screening tests; The test can be scaled from the relatively common diseases to an expanded test that covers more than 270 serious diseases. We have built the proper setting to discuss, counsel and perform both screening and follow up diagnostic tests for genetic conditions
Dr George Michailidis, MRCOG
Fetal &Maternal Medicine Consultant
Obstetrician & Gynaecologist
20 Sep 2017
We are happy to announce the ‘GENESIS’ was granted an Educational Permit by Dubai Healthcare Regulation, what gives us a great opportunity to organize medical events where we can talk about different topics related to:
- Maternal and Fetal Medicine
- Obstetrics and Gynecology
- Management of high risk pregnancies
- Basic and advanced prenatal ultrasound scans
- 3D/4D scans
- And many more…
25 Mar 2016
23 Jan 2016
Zika virus and pregnancy in Dubai
What is Zika virus ?
How is Zika virus transmitted ?
Zika virus is spread by the yellow fever mosquito Aedes aegypti . The specific mosquito can carry a number of other viruses as well like denque fever yellow fever. It is recognised by the white markings on its legs and a specific mark that resemble the music instrument lyra on it thorax . The mosquito has originated in Africa and now is spread in most subtropical regions throughout the word
How do I know if I am infected ?
Symptoms of Zika virus infection in pregnancy
- It is a self limiting infection that usually lasts a few days
- Only one in 5 people who are infected with the virus do actually become ill
Diagnosis of Zika virus infection
- Diagnosis is not easy and is based on a very high index of suspicion
- Symptoms are very similar to those from dengue fever or chinkungunya . Both these viruses are transmitted from the same species of mosquitoes as Zika
- Travel history during pregnancy in areas where zika virus is prevalent is important. CDC is regularly updating its travel information and this can be found online at http://wwwnc.cdc.gov/travel/notices/
- Blood tests can help the diagnosis
Treatment for the pregnant mother with Zika virus infection
- There is no specific medication or vaccine to treat or prevent Zika virus infection during pregnancy
- Ensure good hydration
- Paracetamol is safe to take during pregnancy in mothers with Zika virus infection to relieve some of the symptoms
- In pregnant mothers with laboratory evidence of zika virus disease during pregnancy follow up by a fetal medicine specialist is recommended. Ultrasound scans are performed in 3-4 weeks interval looking for specifically for evidence of microcephaly or cerebral calcifications
Pregnancy advice and Zika virus
Pregnant women considering travelling in an area affected by Zika virus
- Pregnant women should be advised against travelling to areas known to be affected by zika virus. There are no vaccines or medication that can be used in pregnancy to prevent Zika virus.
- The mosquitos responsible for transmitting Zika virus are most active during the day so appropriate measures to avoid mosquito bites should be taken . Wearing long sleeve shirts and long sleeve pants as well a appropriate use of insect repellants is strongly advised
Testing of pregnant women with a possible infection by Zika virus
- To date there is no commercially available test specific for Zika virus . Blood test utilising reverse transcription polymerase test can be used in symptomatic patients . In the US this is facilitated by the local health care departments
Effect of Zika virus to the baby
There is increasing evidence linking Zika virus infection during pregnancy and fetal microcephaly.
What is microcephaly? The term microcephaly is used to describe a fetal head size that is smaller than expected at a certain gestational age. Different cut of points are used but most will take 3 standard deviations from the mean. This means that the circumference of the fetal head is less than the 0.3 % expected for the gestation
The size of the fetal head is mostly dependent on the growth of the fetal brain. Most cases of microcephaly are due to genetic factors. However acquired microcephaly is well described due to infections like toxoplasmosis and rubella. Zika virus has been associated with the increased rate pregnancies affected by fetal micropcephaly in Brazil .
What is the treatment for microcephaly. There is no treatment for microcephaly as this is the result of the damage that has already happened to the fetal brain.
Fetal and Maternal Medicine Consultant
Genesis Perinatal Care Clinic Dubai
Further updated information
Interim Guidelines for Pregnant Women During a Zika Virus Outbreak — United States, 2016
“Aedes aegypti” by Muhammad Mahdi Karim (www.micro2macro.net) Facebook Youtube – Own work. Licensed under GFDL 1.2 via Commons – https://commons.wikimedia.org/wiki/File:Aedes_aegypti.jpg#/media/File:Aedes_aegypti.jpg
“Zika.Virus.Rash.Arm.2014” by FRED – Own work. Licensed under CC BY-SA 3.0 via Commons – https://commons.wikimedia.org/wiki/File:Zika.Virus.Rash.Arm.2014.jpg#/media/File:Zika.Virus.Rash.Arm.2014.jpg
08 Jan 2015
Gestational diabetes has a major impact in pregnancy care especially in Middle East. Lifestyle and diet interventions can help improve outcomes for baby and mother. Furthermore the set the foundations for a long term healthier lifestyle. The following is from the OBGYNnet referring to a recent publication from Diabetes Care ;
Best Diet for Gestational Diabetes | OBGYN.Net: Clinicians should prescribe a low glycemic index diet to women with gestational diabetes mellitus, according to new data from a meta-analysis.
The analysis found that a low glycemic index diet was associated not only with reducing insulin use but also with lower birth weights for the babies. Published in Diabetes Care, the analysis was based on data from nine randomized controlled trials.
– Physicians should recommend that women with gestational diabetes choose foods with a low glycemic index.
– Adhering to a low glycemic index diet will likely improve the health of women with gestational diabetes.
– Although associated with decreased need for insulin and reduced birth weight in infants, a low glycemic diet did not affect maternal weight gain or c-section rates.
A previous Cochrane review found no significant dietary benefit of a low glycemic index diet. However, this latest analysis included more trials that the Cochrane analysis, the authors said.
Total dietary restriction and low carbohydrate diets did not have similar impact on maternal or newborn health, the researchers found. However, a low glycemic index diet reduced the proportion of patients who needed insulin (relative risk, 0.767 [95% CI 0.597, 0.986]; P = 0.039).
“The less frequent use of insulin means that 13 out of 100 patients with GDM will not need to use insulin if they adopt a low GI diet during pregnancy,” the authors reported.
In addition, the average birth weight of babies born to pregnant women with gestational diabetes who consumed a low GI diet was 161.9 g less than that of babies born to women in the control diet group (95% CI: −246.4, −77.4; P = 0.000).
Using a glycemic index scale from 0 to 100 according to the extent to which a food raises blood glucose levels after eating, the authors categorized foods with a glycemic index of less than 55 as low glycemic index foods. Pumpernickel bread, oatmeal, muesli, sweet potato, corn, yam, lima beans, peas, lentils, most fruits, and carrots are among foods deemed to have a low glycemic index, according to the American Diabetes Association.
A low glycemic diet, however, did not affect maternal weight gain or c-section rates, the authors noted.
See more at: http://www.obgyn.net/gestational-diabetes/best-diet-gestational-diabetes
20 Jun 2014
Monochorionic twins (identical twins) present a real management challenge for the obstetric team. In addition to the common twin pregnancy complications like preterm delivery and growth retardation monochorionic twin pregnancies can be affected by twin to twin transfusion syndrome.
Twin to twin transfusion syndrome is a pregnancy complication unique to monochorionic twins. It affects up to 18% of monochorionic twins and if left untreated can lead to loss of both babies. Treatment of choice is laser ablation of the communicating placental vessels. This is not available in Dubai.
There are few centres of excellence around the word with a load of cases to get good level of expertise and good results. Most are in Western Europe and USA.
Given visa restrictions it is imperative that the parents have appropriate counselling and as much notice as possible in order to prepare for possible treatment interventions.
At Genesis we offer a comprehensive monochrorionic twin pregnancy surveillance program aiming to identify early major complications like TTTS and preterm labour.
- Certified Fetal Medicine Consultant supervision.
- First trimester screening, TTTS risk assessment. Documentation preparation for those parents who may need to travel.
- US review from 16 weeks and every 2 weeks till 24 weeks gestation and then 2-3 weeks till delivery.
You can always reach our team for more information and appointments on 044498446.
Dr George Michailidis, MRCOG
Fetal & Maternal Medicine ConsultantObstetrician & Gynaecologist
29 May 2014
Advanced Life Support in Obstetrics, Mediclinic City Hospital
Congratulations to all the Candidates who participated to the latest ALSO course at Mediclinic City Hospital Dubai. The Advanced Life Support Course aims to train healthcare professionals who to best respond to obstetric emergencies.
Many thanks to Dr Rabia, Gina and the rest of the course faculty who have been instrumental to the Course’s success.
Dr George Michailidis
18 Apr 2014
Recent reported cases MERS-COV in UAE have brought a lot of anxiety to pregnant mothers.
What is MERS ?
Middle East Respiratory Syndrome is a severe viral illness first reported in Saudi Arabia in 2012. Patienta present with fever, cough and shortness of breath.
What causes MERS Middle East Respiratory Syndrome?
It can affect the lower respiratory, kidney, intestinal (bowel) and liver cells.
Bats seem to be the primary reservoir for MERS-CoV with camel the most probable intermediate for transmission to humans.
How is MERS-CoV transmitted ?
Case clusters identified till now are suggestive of human to human transmission. Possible modes of transmission are droplets and direct contact transmission. Most cluster cases have been reported in family and health care settings and have been self limited with appropriate vigilance and isolation. WHO believes that MERS-CoV virus has a limited potential for a pandemic.
Clinical presentation and symptoms
Most patients present with severe pneumonia and respiratory distress syndrome
Some have acute renal failure
Incubation period is about 7 days
MERS and Pregnancy
There have been less of a handful cases of confirmed MERS and pregnancy. So it is very difficult to draw conclusions on the effect of MERS CoV to pregnancy. However traditionally pregnant mothers are considered to be in the high risk group for MERS complications due to the changes in their immune response and the fetal effects of a severe respiratory syndrome.
A team from Jordan and the US Centers for Disease Control and Prevention (CDC) published the findings in the Journal of Infectious Diseases about a pregnant mother who has miscarried after contacting MERS-CoV.
Her case was part of a family cluster with a close relative who died from MERS-CoV and her husband who had tested positive for MERS-CoV.
Treatment and vaccines for MERS and pregnancy
There is no specific anti viral treatment for MERS-COV-CoV infection. Patients are receiving supportive treatment
There are no vaccines for MERS-CoV
Prevention of MERS and pregnancy
Simple hygiene rules are very effective in preventing infection from MERS and pregnancy is not an extra reason to be vigilant;
Wash your hands often with soap and water and if this is not available use a sanitizer
Avoid contact with sick people
Avoid touching your eyes mouth and nose as germs spread this way
If you’re ill report to your doctor early. Inform before you reach the clinic so appropriate arrangements can be made to avoid cross infection with other patients (separate waiting area etc)
Further up to date information about MERS can be found at
Dr George Michailidis
Consultant if Fetal & Maternal Medicine
Obstetrician & Gynecologist
Genesis Perinatal Care Clinic, Dubai
30 Jan 2014
Mrs Mirey Karavetian has joined Genesis offering nutritional support and advice to mothers and their family members. Mirey earned her dietetics degree from the American University of Beirut. She has extensive experience as senior dietician in large hospitals in Lebanon.Further to her clinical work she has been teaching clinical nutrition and health quality.
Her blend of education in dietetics and health promotion alongside her great experience in personalised patient care will provide excellent support to our high risk mothers during their pregnancy and after delivery.