Genetic Counselling Services

For many individuals/couples either; embarking on the journey to become pregnant, or already being pregnant, can be a very confusing period. We at Siles Health are hoping to help alleviate that confusion by providing you with supportive Genetic Counselling services. Every pregnancy has a risk of abnormality, this can either be inherited or not inherited (sporadic). The main purpose of a Genetic Counsellor is to provide you with up to date information about the options available and emotional support so you can make informed decisions about your pregnancy. These options are as follows:

Pre-Conception Screening Tests

These screening tests are non-invasive and provide us with information that may help us understand if there is a clinical reason for being unable to conceive.

Gynaecological Ultrasound

Is usually performed as an internal examination, however, abdominal examination can be performed if required. Ultrasound is used to assess the pelvic region: the uterus, fallopian tubes and ovarian tissue, to confirm uterine, endometrial and ovarian normality as well as to exclude any pathology.

Egg Timer Test

The Egg Timer Test uses an Anti-Mullerian Hormone(AMH) blood test and an ultrasound to determine the quantity and quality of eggs left within the ovaries.

VCGS Reproductive Genetic Carrier Screening Test

Genetic carrier screening is performed by a simple blood test. The blood test gives individuals and couples information about their risk of having a child with: CysticFibrosis (CF), Fragile X Syndrome (FXS) and SpinalMuscular Atrophy (SMA).

Pre-Conception Diagnostic Tests

These tests are more invasive than screening tests, but provide us with more accurate information or a definitive reason for any fertility issues you may have.Saline InfusionThe saline infusion allows us to clearly visualise the endometrium (lining of the uterus) so we can accurately detect any pathology i.e. polyps.

Tubal Patency

This test allows us to clearly visualise if there are any blockages in the fallopian tubes.

Endometrial Biopsy & Scraping

This biopsy can provide us with information about the normality or abnormality of the endometrial tissue; it can help diagnose any uterine infections or certain medical conditions. It can also provide us with indications of changes in hormonal levels. The scraping of the endometrium can aid in the implantation process of an embryo which will increase fertility success.

Prenatal Screening Tests

A prenatal screening test provides you with a risk assessment for your pregnancy being affected by a particular condition. Screening tests are non-invasive and therefore do not carry a risk of miscarriage.

Non-Invasive Prenatal Screening (NIPS) or Cell Free DNA (cfDNA)

This blood test allows us to examine fetal DNA in the mother’s blood. It currently screens for the major chromosomal conditions such as Down Syndrome, Edwards Syndrome, Patau Syndrome and Sex Chromosome Conditions (ie: Turner’s Syndrome).

Combined First Trimester Screening Test

This screening test utilises ultrasound for fetal measurements and a blood test which provides you with a risk assessment for Down Syndrome. The blood test is best performed at 10 weeks and measures two hormones: beta HCG and PAPP-A. The ultrasound is performed at 12 weeks where fetal biometry measurements, a nuchal translucency measurement(skin fold at nape of neck) and the presence or absence of a nasal bone are assessed.

Mid Trimester Ultrasound Screening

An expertly performed ultrasound is performed at 19 to20 weeks of gestation. This routine examination provides you with a full fetal anatomy survey. This includes assessment of anatomy and any structural changes that may or may not be associated with genetic conditions.

VCGS Reproductive Genetic Carrier Screening Test

Genetic carrier screening is performed by a simple blood test, it will detect if you are a carrier of CysticFibrosis (CF), Fragile X Syndrome (FXS) and SpinalMuscular Atrophy (SMA). It is available at any time in the pregnancy, however, is recommended as early in the first trimester as possible to ensure enough time for decision making.

Pre-eclampsia and Intra-uterine Growth Retardation (IUGR) Screening

By measuring: hormones beta HCG and PAPP-A,maternal blood pressures and urine samples for protein levels. Ultrasound is used for uterine artery Doppler screening, serial fetal growth and placental dysfunction. This helps provide us with earlier recognition and in turn preventative intervention to those at risk.

Prenatal Diagnostic Tests

A diagnostic test will give you a definitive diagnosis (simple yes or no answer). They are invasively performed tests and therefore do carry a risk(albeit a small risk) of miscarriage.Chorionic Villus Sampling (CVS)Is an ultrasound guided procedure that enables usto obtain a small sample of the developing placental tissue. The cells are sent for testing which provides us with a definitive diagnosis (100% accuracy) of any chromosomal abnormalities (variants or imbalances). It carries a 1:500 – 1:1,000* risk of miscarriage. AmniocentesisIs an ultrasound guided procedure that provides usa small sample of amniotic fluid (the fluid surrounding your baby) and is sent for testing which provides us with a definitive diagnosis (100% accuracy) of any chromosomal abnormalities (variants or imbalances). It carries a 1:500 – 1:1,000* risk of miscarriage.

Multidisciplinary Care

Our Genetic Counsellor works very closely with Dr. Charles Siles and our other ultrasound specialists to provide you with all relevant screening and diagnostic testing options. We also have a great team of specialists to whom we refer to for any genetic, neurological, cardiac and other anomalies.