Tests

A Word About Genetics

After you have completed your infertility workup and have been given your "recipe for success," you still run a 20% risk of having another miscarriage. This will most likely be due to genetics. If you should happen to experience an arrested pregnancy, you should make every attempt to have the fetus analyzed for genetic defect. As soon as you learn of your situation a D & C (dilatation and curettage) should be scheduled as quickly as possible as fetal tissue degrades rapidly.

Contact the Alan Beer Resource Center For Reproductive Immunology & Genetics for instructions. Dr. Kwak will tell you where to send the tissue. Local hospitals are not usually equipped to handle such testing, and even if they are, the testing usually involves attempting to grow live cells from degraded tissue which can lead to inconclusive results. The method used by the lab affiliated with the Alan Beer Resource Center For Reproductive Immunology & Genetics involves sophisticated techniques that are unparalleled in deciphering the riddle of recurrent miscarriage.

Instructions for Preserving Fetal/Placental Tissue & Genetic Testing

Have your doctor preserve the placental tissue in Formalin and the fetal tissue according to directions by the Alan Beer Resource Center For Reproductive Immunology & Genetics.

You can have your own chromosomes tested at the University of Montreal via Dr. Tulandi. It is a simple blood test. I’ve recently heard that the Alan Beer Resource Center For Reproductive Immunology & Genetics is now using another lab for this so it is best to contact them for further instructions. In Montreal you may have the genetic testing of the fetus and tissues done at

Procrea 
1100 Beaumont 
Tel: (514) 345-8535

Unfortunately, genetic tests for IVF patients to test their embryos for chromosomal defect prior to embryo transfer is not yet readily available locally. It has only been offered by

T-CART in Toronto 
Tel: (416) 972-0110

and

Dr. Feinman in California 
Tel: (805) 374-1737

Both centres remove a cell from the embryo(s) and send them to a special facility in the US where the testing is done. As of July, 2001 this procedure costs approximately US$3,000 and should only be considered for couples who run the serious risk of passing on a serious genetically related disease to their offspring such as Cystic Fibrosis or Downs Syndrome. There is another centre in the US where genetic testing can be done.

St. Barnabas Medical Center claims to have the highest fertility rates in the US. 
Tel: (973) 322-8286

Fertility Tests

You can have your own chromosomes tested at the University of Montreal via Dr. Tulandi. It is a simple blood test. I’ve recently heard that the Beer Clinic is now using another lab for this so it is best to contact them for further instructions. In Montreal you may have the genetic testing of the fetus and tissues done at

Procrea 
1100 Beaumont 
Tel: (514) 345-8535

Unfortunately, genetic tests for IVF patients to test their embryos for chromosomal defect prior to embryo transfer is not yet readily available locally. It has only been offered by

T-CART in Toronto 
Tel: (416) 972-0110

and

Dr. Feinman in California 
Tel: (805) 374-1737

Both centres remove a cell from the embryo(s) and send them to a special facility in the US where the testing is done. As of July, 2001 this procedure costs approximately US$3,000 and should only be considered for couples who run the serious risk of passing on a serious genetically related disease to their offspring such as Cystic Fibrosis or Downs Syndrome. There is another centre in the US where genetic testing can be done.

St. Barnabas Medical Center claims to have the highest fertility rates in the US. 
Tel: (973) 322-8286

www.endometriosisassn.org 
The Endometriosis Association (EA) is a non-profit, self-help organization founded by women for women. The EA is dedicated to providing information and support to women and girls with endometriosis, educating the public as well as the medical community about the disease, and conducting and promoting research related to endometriosis.

www.endometriosis.org 
Endometriosis Associations are listening to women everywhere, helping them to realise they are not alone. They have become a powerful, effective international force to keep researchers on course to achieve understanding and, one day, a cure for the disease.

www.ivf.com 
Woman’s guide to overcoming endometriosis.

www.infertilitydocshop.com 
FertilityDocShop is a resource that allows you to find information from doctors in your area that offer Assisted Hatching, Embryo, Sperm, Egg Ovarian Tissue Freezing, Gamete Intra Fallopian Transfer, Intra Cytoplasmic Sperm Injection, In Vitro Fertilization, Pre-Implantation Genetic Diagnosis, Sperm Aspiration, Tubal Ligation, Tubal Ligation Reversal, Vasectomy, Vasectomy Reversal, Zygote Intra Fallopian Transfer and other fertility procedures.

www.medicalandnursing-training.com 
A guide to selected medical and bursing training and vocational schools provides the facts on Endometriosis

Amniocentesis

Amniocentesis is highly recommended for all pregnant females over the age of 35. This procedure is also highly recommended for all couples that have a known genetically related disease in their family histories. For best results, this procedure should be done by a Perinatalogist. This is an Ob/Gyn who specializes in high-risk pregnancies.

Both amniocentesis and CVS (chorionic villus sampling) are procedures to test the chromosomes of the developing baby. Chromosomes contain DNA, which is a genetic code that determines things like eye color, skin type and predisposition to certain inherited diseases. Not only is the information coded for by the DNA on the chromosomes important, but the absolute number of chromosomes is also important.

Normally, an individual has 46 chromosomes. You inherit 23 chromosomes from your mother and 23 from your father. Rarely, during the process of formation of eggs and sperm, a chromosome will either be lost (this is called "monosomy") or gained (this is called "trisomy"). One of the most common trisomies is trisomy 21, which means that the fetus has three copies of chromosome 21, instead of the usual two copies. This is commonly referred to as Down’s syndrome.

Amniocentesis and CVS can both test for the structure and number of chromosomes. Women who are 35 years of age or older are offered amniocentesis or CVS specifically to test for chromosomal number, because the risk of problems with chromosomal number are increased in this age group. Amniocentesis and CVS are also performed in patients of any age when they are known to be at risk of having a child with a genetic disorder, such as cystic fibrosis or sickle cell disease.

THE PROS AND CONS OF EACH TEST

Amniocentesis is typically performed at 15 to 18 weeks gestation and is done by inserting a small needle through the mother’s abdomen and uterus into the amniotic fluid surrounding the baby. A small amount of amniotic fluid is removed for analysis. The needle is associated with minor discomfort, but most women do not find the procedure to be inordinately painful.

CVS is usually performed at 10 to 12 weeks gestation and can be done one of two ways:

1. A small flexible plastic catheter can be inserted through the cervix into the developing placenta. A small amount of tissue is then removed for testing. This is known as a transcervical CVS. 
   
2. A second way to perform CVS is by inserting a small needle through the mother’s abdomen and uterus, much like amniocentesis, but the needle goes into the placenta rather than the amniotic fluid. This is known as a transabdominal CVS. The decision of which method to use is based on the location of the placenta. Like amniocentesis, neither of the two ways to perform a CVS are particularly painful. The results of both tests take about 1 to 2 weeks to complete and are highly accurate.

WHAT ARE THE RISKS?

What are the risks associated with these procedures? Any "invasive" diagnostic test during pregnancy carries a small risk of miscarriage. For amniocentesis and CVS, that risk is in the range of 0 to 1 percent. So, even though this risk is small, each woman must decide for herself if the information she will receive from the test is worth the small risk associated with it.

Another common question is, "Can these procedures damage the baby?" Both amniocentesis and CVS are done with the assistance of ultrasound to enable the person performing the procedure to accurately place the needle or catheter away from the baby. Using this approach, it is exceedingly unlikely that either of these procedures can cause damage to the developing baby.

This article is reproduced from the FamilyFun web site.