Pre-Implantation Genetic Diagnosis (PGD) in Fertility Treatments

May 15, 2010

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For couples undergoing in vitro fertilization (IVF), pre-implantation genetic diagnosis (PGD) is a procedure undertaken to screen the embryos for a host of genetic diseases and disorders to ensure the delivery of a healthy baby. PGD helps physicians to identify some genetic defects within the embryo, prior to implantation, before the pregnancy is established. The couple can then decide whether or not they want to continue with the pregnancy. The procedure was first conducted in 1988 and since then this technology is increasingly being used in fertility clinics in the United States.

PGD is normally recommended for couples where one or both of the parents are a known carrier of a genetic disease such as hemophilia. The procedure involves the removal of one or two cells from an embryo which are then screened for genetic abnormalities. PGD identifies the embryos with chromosome abnormalities, thereby avoiding their transfer during an in vitro fertilization procedure. The analysis helps to detect certain inherited or chromosomal diseases such as Down syndrome, Thalassemia, cystic fibrosis, hemophilia A, Tay-Sachs disease, and Turner syndrome among others, prior to implantation.

Most fertility clinics offer PGD in select cases such as:

Women over the age of 35 who have had miscarriages or failed attempts at becoming pregnant through IVF Women who have repeated pregnancy loss due to genetic disorders or who already have one child with a genetic problem Any couple who have been unable to become pregnant through multiple IVF cycles Couples who wish to identify a tissue match for a sick sibling who can be cured with transplanted cells

For couples who are at risk of passing on serious inheritable genetic diseases to their offspring, a diagnosis before embarking on a pregnancy is preferable to medically invasive, emotionally demanding prenatal diagnostic techniques. However couples with genetic disorders should receive adequate counseling about the risks of misdiagnosis and the possibility of no diagnosis before going in for PGD.

East Bay Fertility Center California, offers a wide range of infertility treatments along with expert medical counseling to couples facing difficulty in conceiving. Under the guidance of Dr. Ellen U. Snowden, Medical Director and Reproductive Endocrinologist, medical staff at East Bay provides dedicated treatment for infertility and reproductive endocrine issues.

At the center, PGD is offered as an option to couples who are at high risk of passing on a genetic disease to their children. The Center’s IVF experience and access to advanced genetic testing and counseling holds the promise of increasing the probability of a successful pregnancy outcome from an in vitro fertilization procedure and reducing the incidence of genetic disease. The use of this advanced genetic testing procedure allows only normal embryos to be transferred back into the uterus, providing a much better chance of achieving a full-term pregnancy with chromosomally healthy embryos.

Testing times

May 15, 2010

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When Martina Navratilova was diagnosed with breast cancer recently, her first reaction was — ‘Why me?’ She was, after all, “a lifelong athlete, strong, healthy, and had eaten nutritionally all her life”, which made accepting the situation that much harder. But Martina was lucky that her cancer was caught early. Yet, the tennis great admitted she’s partly to blame because she went four years without a mammogram check-up. “Another year and I could have been in trouble,” she reportedly said.

Despite your best efforts, you may not be always able prevent diseases, but you can ensure speedy recovery by diagnosing them early. So even if you are the superwoman — trying to juggle between varied responsibilities — spare some time for yourself and get a few tests done.

In your 20s and 30s

What: A tried and tested way to test cervical cancer (caused by Human Papilloma Virus — HPV). Pap smear is a swab of cells taken from your cervix that is tested for any abnormalities.
When: Ideally, from the time you get sexually active. If you’ve had several normal Paps in a row and a negative HPV test, get tested every other year. Else, if you have multiple sexual partners, are a smoker or have any other disease, get tested every year.

A precursor to HPV test is the cervical cancer vaccine which is being recommended for girls from 12 onwards. This greatly reduces the risk of cervical cancer.
FACTOID: India reports approximately one fourth of the world’s cases of cervical cancer each year.

Pre-pregnancy tests
What: Tests to ensure good health of your baby. Tests for thalassemia and German measles (Rubella) top the list. Thalassemia is generally passed on from parents to children, hence it’s best to get tested beforehand. It is a simple blood test that picks up the levels of haemoglobin. People who have thalassemia have problems with the alpha or beta globin protein chains of haemoglobin. Similarly a rubella test detects anti-bodies to the rubella virus in a sample of blood. If exposed to rubella, you could get afflicted and transmit it to the baby.
When: Pre-pregnancy or immediately after marriage.
FACTOID: Reportedly, one out of every 25 Indians is a carrier of thalassemia.

What: With increasing cases of fibroids, endometriosis and Polycystic Ovarian Syndrome, a sonography must feature in your regular test-list. Often these diseases are asymptomatic and a routine sonography can detect a number of irregularities. A pelvic sonography also gives a clearer picture of two cancers — of the uterus and that of the ovary.
When: Once in your mid-20s. If the results are clear, you can defer it for three years. But after 40, do it every year because the risk factors shoot up.
FACTOID: It is estimated that the incidence of endometriosis is about 5 – 20 per cent.

Other tests
What: Tests for lipid profile, cholesterol and diabetes. With increasing incidents of heart problems among women too, go for regular testing of cholesterol levels and lipid profile. Ditto for diabetes, especially if you are detected with high cholesterol. And if you are slightly overweight, a thyroid test is a must.
When: Begin these in your mid-30s. 40s and beyond

What: Regardless of whether you feel a lump in your breast or not, a mammography and a sonography should be done every year after 40.

CA 125 test
What: A blood test that is also a tumor-marker, designed to detect ovarian tumours. Include this aspect too with your sonography.
FACTOID: In India, one in 22 women is likely to suffer from breast cancer in her lifetime.

Bone density test
What: A test to find out whether you’re at risk for osteoporosis.
When: Any stage but especially at the menopausal or the perimenopausal phase. It determines the density, thickness and strength of the bones as an osteoporosis-afflicted patient is extremely prone to fracture. If detected early, specific treatments are available.
FACTOID: An estimated 300 million plus people in India suffer from osteoporosis.

Who should consider genetic testing?

February 14, 2010

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Inherited diseases such as cystic fibrosis often occur in families with no known risk of them.

Gene mutations can pass silently for generations until two carriers mate; then children have a one-in-four chance of getting the disease. Some insurers cover genetic testing to see if parents carry a gene, and prenatal testing to see if a baby has a disease or a condition like Down syndrome.

The risk of certain genes varies by racial and ethnic groups.

The American College of Medical Genetics says that women who are pregnant or considering pregnancy should be offered testing for cystic fibrosis, a lung disease, and spinal muscular atrophy, a relatively common and devastating neurological disorder.

If you’re an Ashkenazi, or Eastern European Jew, testing for nine diseases is recommended, including the neurological disorders Tay-Sachs, familial dysautonomia and Gaucher disease. Blacks should consider testing for sickle cell disease.

Blacks, Hispanics, Asians and Mediterranean people are more likely than other groups to carry genes that cause thalassemia, a serious blood disorder. All pregnant women should be offered testing for Down syndrome, which is caused by an extra chromosome, not hereditary genes.

Notes: 6th National Thalassemia Conference & Workshops

December 25, 2009

6th National Thalassemia Conference & Workshops
17th – 19th December 2009

Day 1: Conference Inauguration – Pearl Continental Hotel, Lahore

Ceremony started with Tilawat-e-Quran at 4 pm, Mr. Hussain Jafri, Secretary General TFP Punjab Chapter gave Welcome Address, and Dr. Yasmeen Rashid Secretary General TFP gave introduction of TFP.
TFP was established in 2004, Thalassemia patients registered with TFP are 25000, 39 NGOs working with TFP till date.

Prevention program being designed and developed by the help of WHO.

More than 15 billion are being subjected for the prevention by Punjab Government.

Mr. Iqbal, TFP Exec. Comm. Member being called to let us know the feedback of a Thalassemic parent, Dr. Jovaria Manna, Chairperson, Medical Advisory Board briefed us about scientific sessions and workshops of the next two days.

Dr. Jovaria informed us about Uniform Protocol, book on iron chelation therapy guideline which she has edited and being distributed all over Pakistan.

Mr. Iqbal told us about his blood bank and Thalassemia center, which is in Karachi and working successfully.

Address by Guest of honor Prof. Majeed Chaudhry, Principal, FJMC & Prof. Humayun Maqsood, Principal, FMCMD.

Both of them appreciated TFP’s work and event and and promised to support conference by all means.

Lt. Gen (R) Moin-ud-din Haider, President TFP thanked all for attending, requested for moral and monetary support for TFP and societies, told us about government being concerned in Thalassemia issue these days and gave shields to the mentioned below patients on their achievements.

1) Ayesha Murtuza from Abbotabad – LLB
2) Laiba Mukhtar from Lahore – 3rd position in Inter & 1st in I.COM
3) Master Abdul Samad – 5th passed Hafiz-e-Quran
4) Mujtaba Shareef – Hafiz-e-Quran
5) Miss. Atiya Kamran from Karachi – Inter pass, married
6) Mr. Ejaz Haider from Karachi – Volunteer for Fatimid
7) Ameen Tipu – Earning, married & have two kids
8) Usman – Hafiz-e-Quran

– End of day 1 –

Day 2: Patient Safety Awareness Workshop in Collaboration with World Health Organization – Fatima Memorial College of Medicine & Dentistry, Lahore

Started at 9:30 am with Tilawat-e-Quran, Dr. Yasmeen Rashid gave briefing over the workshop objectives; workshop was conducted by WHO on their World Alliance Of Patient Safety.

She briefed about iron chelation, transfusion, screening, hepatitis, aids, etc.

She even requested the NGOs to care about screening, cleaning and hygiene.

Later on Mr. Hussain Jafri briefed us about World Alliance of Patient Safety program.

WHO launched this program in October 2004.

Programs started under World Alliance:
1) Patients for patient safety
2) Patient safety research
3) WHO patient safety campaigns
4) Education and training
5) Implementing change

You can read about IAPO – International Alliance of Patients Organization at their website: IAPO

After Mr. Hussain, Dr. Jovaria came on dice to give us guidance over Patients Safety, she told us a patient should be aware of everything, he should ask the nurse while getting transfuse about screening, blood bag details, make sure that blood belongs to him, patient should get vaccination done, she even advice to get splenotomy done by good doctor not by any general surgeon.

After Dr. Jovaria, Question and Answer session was conducted, followed by panel-list of three doctors, three society member and three patients.

I was given the chance to be among the three patients, was given chance to brief over my activities and, which got appreciated by all the people attending.

– End of day 2 –

Day 3: Prevention & Treatment of Hepatitis B & C of Patients Receiving Multiple Blood Transfusions – Fatima Jinnah Medical College, Lahore

Day 3rd was a bit hard to manage, as there were two things going on side by side at the same timings, one side conference over Hepatitis, other side scientific sessions over exjade, prevention & genetic counseling.

Not much new was being told, but there was a session which I wanted to attend badly and I have made notes of it, sharing it with you

Management of Pregnancy in Thalassemia Major – Dr. Yasmeen Rashid:

Patient who want to start new family should work hard to get her ferritin as low as 500, and must maintain her hemoglobin at 10 – 11 gram.

Pre Pregnancy Counseling:
Iron chelation is discontinued for 9 months

Pre Pregnancy Evaluation:
Cardiac, Liver, Vessels, Pancreas, Viral Infection, Iron Status – all things should be monitored closely.

During Pregnancy:
1) Iron should be around 300 to 500 for better health of baby.
2) Hemoglobin should be maintained at 10 – 11 gram.
3) Low blood transfusion, small quantity every 10 to 15 days to give enough oxygen to the body.
4) Vital signs should be monitored during transfusion.
5) Discontinue iron chelation.
6) Continuous check on ferritin level.
7) Cardiac monitoring every 3 months.
8) Endocrine function, oral glucose test should be done
9) Last but not the least, Best doctors!

Effects on the fetus if anything is wrong:
1) Fetal Hypoxia
3) Premature Labor
4) Fetal Demise

One should wait for normal delivery to happen, but as it takes lots of efforts/energy so the patient should be monitored closely for cardiac functions.

In case of IUGR or Fetal distress cesarean should be performed.

Iron Chelation should be started within the first week after delivery.

– End of day 3 –

Program Guide: Day 1 , Day 2 , Day 3 a , Day 3 b

Pictures: 6th National Thalassemia Conference & Workshops

Note: I have made notes of my interested topics only, but I have attended almost every session… If you want to know about anything kindly drop a comment I will try to respond as soon as possible… But to be frank there wasn’t much new knowledge to hear.

Couples urged to follow doctors’ pre-marital advice

December 24, 2009

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Those who intend to get married should follow their doctor’s instructions to avoid health problems, Pre-marital Screening Committee chairman Dr Ahmed Kamal Naji has said.

“This should be coupled with a sound diet system, physical exercise, observing weight, giving up smoking, decreasing intake of stimulants like tea, coffee, carbonated drinks and sugars for their negative effect on fertility and fetus growth,” he explained.

Dr Naji said couples should never take any medicines without consulting their doctors.
“Women should take folic acid before pregnancy to minimise any deformation to the fetal nervous tube. For women with some types of heart diseases, the case has to be stable before pregnancy for the sake of the mother’s life,” he advised.

He added that during pregnancy, the mother should have appropriate treatment which does not affect the foetus, especially medicines taken for thyroid gland, epilepsy, blood clotting, blood pressure and diabetes. “All these are necessary to avoid any hard and lengthy trouble in the future,” he stressed.

The national pre-marital check-up and counselling programme, which was launched recently, screens would-be couples for potential inherited infections or diseases they could give to their babies, especially in close-blood marriages.

Family marriages play a great role in the infection of inherited diseases caused by recessive inheritance, such as the sickle cell anemia and thalassemia.

Dr Naji said according to the type of the disease, avoidance possibilities can be discussed.

However, he said screening did not include tests that check fertility of any of the couples.

A statement issued recently by the pre-marital screening committee has emphasised that it did not mean that marriages outside the family will guarantee that babies will be free of inherited diseases or even recessive inherited diseases.

“That is why it is important to conduct certain tests to determine if the person is carrying the disease.

Therefore, pre-marital screening is important for relative and non-relative couples,” it says.

The statement explains that the potential infection of congenital diseases among couples of family relationships is higher.

“The closer the relation, the higher is the infection as every individual, regardless of age or health condition, has about 5 -10 defective genes which do not cause any disease for the person carrying them, as he possesses similar genes that are disinfected.”

“When the couple carrying infected genes get married, their children might receive double dose of those genes, that is to say, each of the father and mother gives infected genes. This causes health problems according to the type of the infected gene.”

The Supreme Council of Health has divided the diseases to be screened for into two categories: contagious and inherited diseases.

The purpose of including contagious diseases such as hepatitis B and C, and HIV/Aids is to avoid some of them through treatment or vaccination, or else to warn the other party against potential infection.

Other tests in the premarital screening includes haemoglobin abnormalities (thalassemia and sickle cell anemia), hemophilia (A and B) and syphilis.

“Many of the inherited diseases have no cure, some are difficult to treat and their treatment might be very costly and might require some advice or counselling in addition to other lengthy procedures,” Dr Naji said.

He added that premarital screening has become an appropriate, effective and less expensive tool to combat and prevent inherited diseases, adding that it implied great benefits for the whole society as it protects against inherited diseases which cost much to be cured or treated.

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