Reproductive Genetic Testing

HELPING YOU BUILD HAPPY FAMILIES

For women who have failed IVF or have a poor prognosis for IVF, the fertility doctor may recommend a technique

Reproductive Genetic Tests, which are done at different stages along the reproductive journey, aim to provide valuable information to assist both the Healthcare Practitioner and Patient in making informed decisions about their reproductive options and in doing so help to build a healthy family.

Carrier Screening screens for a wide variety of clinically relevant genetic disorders to determine the risk of having a child with a genetic disorder. Everyone is at risk of having a child affected by a genetic disorder, even if you have no family history or symptoms of disease.

Carrier Screening helps empower you to make informed reproductive decisions prior to falling pregnant.

PREIMPLANTATION GENETIC TESTING FOR ANEUPLOIDIES (PGT-A):

PGT-A is a comprehensive chromosome screening tool that screens embryos before implantation to reduce the risk of having a child with a chromosomal abnormality.

PGT-A has been shown to:

Reduce the time between IVF cycles if another cycle is needed
Increase IVF pregnancy success rates
Improve implantation outcomes
Decrease miscarriage rates

ENDOMETRIAL HEALTH TESTS (EndomeTRIO):

The endometrium has been recognised as a key factor in successful pregnancies during recent scientific studies.

EndomeTRIO has an option of three different tests which can be done individually or as a combination.

ERA – Endometrial Receptivity Analysis

ERA evaluates the status of the woman’s endometrial receptivity, which identifies the best possible window of implantation.

EMMA – Endometrial Microbiome Metagenomic Analysis

EMMA evaluates the endometrium at the microbiological level, to determine the percentage of Lactobacilli and dysbiotic bacteria in the endometrium.

ALICE – Analysis of Infectious Chronic Endometritis

ALICE is a diagnostic test to detect the bacteria causing chronic endometritis (CE)

PRODUCTS OF CONCEPTION SCREENING

More than half of first-trimester miscarriages are caused by chromosomal abnormalities. The POC test is done on the tissue from the miscarriage to evaluate the presence of abnormal chromosome numbers and determine if the miscarriage was caused by the chromosomal abnormality. The test aims to give you answers after a loss and provide your healthcare provider with information for reproductive counselling.

NON-INVASIVE PRENATAL TESTING (NIPT)

NIPT safely and non-invasively screens for the most common chromosomal aneuploidies from as early as 10 weeks gestation. NIPT uses a single maternal blood draw from the mother’s arm, it is more accurate than maternal blood tests and ultrasound in the detection of chromosomal aneuploidies, providing a greater sense of comfort.

NIPT CAN SCREEN FOR THE FOLLOWING CHROMOSOMAL ABNORMALITIES:

Trisomy 21 – Down syndrome
Trisomy 18 – Edwards syndrome
Trisomy 13 – Patau syndrome

Sex chromosome abnormalities – Turner syndrome (monosomy X), Triple X syndrome (XXX), Jacobs syndrome (XYY) and Klinefelter syndrome (XXY)

Additional Options:

All chromosome testing – includes segmental deletions and duplications >7Mb
Microdeletions – 22q11 deletion (Di George); 15q11 deletion (Angelman/Prader-Willi); 1p36 deletion; 4p- (Wolf-Hirshhorn); 5p- (Cri-du-chat) (Extra cost and longer turnaround time)

NEWBORN SCREENING

Newborn screening tests babies in the first few days of life for selected genetic and metabolic diseases that are often not apparent at birth. These congenital (from birth) diseases can progress rapidly to severe illness if not detected early and treatment started. Severe complications such as brain damage and possibly even death, can be prevented by this simple test.

TYPES OF DISORDERS THAT ARE TESTED FOR INCLUDE:

Amino Acid Disorders
Organic acid disorders
Disorders of fatty acid oxidation
Disorders of carbohydrate metabolism
Endocrine disorders

GENETIC COUNSELLING

Genetic Counsellors are healthcare professionals that specialise in genetics and counselling. It is important that genetic tests are done in conjunction with a Genetic counsellor who will enable patients to make informed decisions about the reproductive genetic tests that are available to them. Genetic counsellors assist patients to select the appropriate test by ensuring that they understand the available options and any associated benefits and limitations.

known as Assisted Hatching.

What Is Assisted Hatching?

One of the first steps involved in IVF is fertilisation of the egg. Once this has occurred, the egg, now called an embryo, will start to divide. The embryo(s) is housed in a “shell”, a protein layer known as the zona pellucida. For a successful pregnancy to occur, the embryo has to hatch out of the zona pellucida, and then attach itself to the uterus lining.

Researched based evidence has shown that embryos with a thin zona pellucida have a better chance of hatching and implanting in the endometrium of the uterus. With the assisted hatching technique, the embryologist is able to make a small hole in the zona pellucida, thus aiding the embryo to hatch out. This is done with the use of a high-powered microscope, micro-manipulators and a computer guided laser. The assisted hatching technique is performed a few hours before an embryo transfer.

Indications for Assisted Hatching

According to research, Assisted Hatching may be useful in case of:

Advanced maternal age (older than 38)
Two or more failed IVF cycles
Poor embryo quality
Thick zona pellucida
Frozen embryo transfer

Will Assisted Hatching Increase IVF Success?
Researchers at New York-Cornell Medical College found that there was an increase in implantation in all women studied, particularly in those over age 38 or those who had an elevated FSH level at the start of their menstrual cycle. Couples with multiple failed IVF cycles also benefited from this technique.

Is Assisted Hatching with IVF Safe?
There can be complications from Assisted Hatching. It may be associated with damage to the embryo and a reduction in the viability of the embryo. In addition, Assisted Hatching has been associated with an increased risk of monozygotic (identical) twins.

Talk to your fertility doctor about the risks and benefits of assistant hatching.