Prenatal Screening

For a healthy outcome.

BOOK A CONSULTATION

Prenatal Screening

For a healthy outcome.

BOOK A CONSULTATION

The thought of testing the health of your baby while still in the womb after you have already been through a lengthy process to become pregnant can be scary.

At Markham Fertility Centre, we will guide you through the early stages of your pregnancy. Our affiliation with Markham-Stoufville Hospital provides access to some of the top obstetric care in the country.

Common Questions

About Prenatal Screening

Prenatal screening can be performed during pregnancy to identify those pregnancies with an increased chance of a chromosomal condition. Most chromosomal conditions are sporadic, meaning that they happen just by chance. Some chromosomal conditions are related to increasing age of the egg at time of fertilization while other chromosomal conditions appear to be occurring at similar rates at any age.

Prenatal screening is not diagnostic, meaning it can only determine whether a baby is likely to have specific health conditions or chromosomal abnormalities. If a result indicates there is a high likelihood of occurrence, further testing would be required to determine with certainty whether your baby has the condition in question.

While all patients can choose to have prenatal screening as part of their early pregnancy care, it may be
most useful for those who:

Are 40+ years old at the time of delivery (based on age at time of egg retrieval for IVF conceptions)
Have had a prior pregnancy affected by a chromosome condition
Have not had prior chromosome screening (i.e. conceived spontaneously, via IUI or via IVF without PGT-A)

The two main types of prenatal screening are:

Enhanced First Trimester Screening (eFTS)

eFTS combines information from an ultrasound and blood test to create a risk score for Down syndrome and Trisomy 18. The ultrasound is called a nuchal translucency (NT) ultrasound and measures fluid at the back of the baby’s neck. The blood test measures protein markers that are being produced by the pregnancy. This prenatal screen is performed between 11 weeks, 2 days gestation and 13 weeks, 3 days gestation. It is able to detect 85-90% of pregnancies with Down syndrome. It is covered by OHIP for all pregnant individuals, but there are several circumstances in which it is not recommended.

Non-invasive Prenatal Screening (NIPS or NIPT)

NIPS or NIPT, is a blood test that examines the DNA fragments that are shed from the placenta. This makes it a highly accurate prenatal screen for the chromosome conditions tested, which include Down syndrome, Trisomy 18, Trisomy 13 and sex chromosome differences. Additional options for chromosomal microdeletion syndromes may be available. This prenatal screen is performed after 9-10 weeks gestation. It is able to detect greater than 99% of pregnancies with Down syndrome. It is covered by OHIP in specific situations which are set by the Ministry of Health.

Prenatal screening can provide timely and valuable information about the health of your baby.

Your Prenatal Screening Journey Begins Here

Now that you are pregnant, it is hard to think about doing more tests. You may or may no require all of the tests highlighted below. We provide information in the journey below only to indicate when certain tests are performed. Your fertility doctor will continue monitoring yours and your baby's health during the first trimester and will recommend tests based on your individual circumstances.

Early Obstetric Ultrasounds - 7 to 9 Weeks gestation

Following a positive bhCG (pregnancy test) you will have an ultrasound at around 7 and 9 weeks gestation to determine the location of the pregnancy, the number of babies and calculate your estimated due date.

Nuchal Translucency (NT) Ultrasound - 11 to 13 weeks gestation

All pregnant individuals are recommended to have an NT ultrasound between 11 and 13 weeks gestation. If you choose to have Enhanced First Trimester Screening (eFTS), this blood work will be done after the ultrasound is complete. Results are usually expected in 7-10 business days.

Chorionic Villus Sampling (CVS) - 12 to 14 weeks gestation

If your prenatal screening results showed a high risk for a chromosomal condition, a CVS can be performed between 12 and 14 weeks gestation. During this procedure a sample of the placenta is taken for diagnostic testing.

Amniocentesis - 15 to 20 weeks gestation

If your prenatal screening results showed a high risk for a chromosomal condition, an amniocentesis can be performed after 15 weeks gestation. During this procedure a sample of the amniotic fluid is taken for diagnostic testing.

Anatomy Ultrasound - 19 to 20 weeks gestation

All pregnant individuals are recommended to have a detailed ultrasound between 19 and 22 weeks gestation. This ultrasound will look at the baby’s growth, organ development, placenta and amniotic fluid levels. This ultrasound is typically arranged by your obstetrician or midwife as you will have graduated from MFC by this point!

Genetic Testing Services Provided by Markham Fertility Centre

Carrier Screening

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Prior to conception, often for those at risk of transferring a genetic disorder.

Preimplantation Genetic Testing (PGT)

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After IVF, testing of an embryo to help eliminate those with genetic abnormalities.

Prenatal Screening

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During pregnancy to identify whether your baby is more or less likely to have certain birth defects.

Common Questions About Prenatal Screening

Who should have prenatal screening?

What is the difference between prenatal testing and prenatal diagnosis?

Prenatal screening are non-invasive ways to assess if your pregnancy has an increased likelihood to be affected with a chromosomal condition. Non invasive tests include Nuchal Translucency Ultrasounds and blood work (NIPT/NIPS) Prenatal screening does not pose a risk of miscarriage, but cannot cannot tell you definitively if a chromosome condition is present or absent.

Prenatal diagnosis involves an invasive procedure such as Chorionic Villus Sampling or amniocentesis to obtain a sample to be tested. There is a risk of miscarriage associated with these procedures. The results are diagnostic and can typically determine with a high degree of accuracy if the baby has a chromosome condition or genetic disorder.

Does Markham Fertility offer Nuchal Translucency (NT) ultrasounds?

Does Markham Fertility offer Chorionic Villus Sampling ()CVS) and amniocentesis?

What is amniocentesis?

Amniocentesis is a diagnostic test that is performed in weeks 15-20 of a pregnancy. A small amount of amniotic fluid is sampled from the amniotic sac that surrounds the fetus. Amniotic fluid contains some of your baby’s cells and is used to find out if your baby has any genetic abnormalities, including Down syndrome, spina bifida, and cystic fibrosis..

To obtain a sample of amniotic fluid, your doctor will first perform an abdominal ultrasound to determine the exact location of the baby in your uterus. Following the ultrasound, the doctor will insert a long, thin needle into your abdomen to collect a small amount of amniotic fluid. This procedure only takes a few minutes and is well tolerated by patients.

Amniocentesis is generally recommended if you are over 35 years of age or if you or your partner (biological father) is a known carrier of a genetic disorder, such as cystic fibrosis.

What is NIPT?

NIPT is short for Non-Invasive Prenatal Test. NIPT is a maternal blood test that can be performed as early as 10 weeks gestation. A blood sample is drawn from the mother and is analyzed. From the blood sample, we can determine the sex of the baby and detect for Down Syndrome (Trisomy 13, 18, 21). The test is non-invasive and has a 99% accuracy rate.

NIPT testing is typically performed on expecting mothers who are at risk of having a child with Down Syndrome.

What is a nuchal translucency test?

A nuchal translucency (NT) test is an optional ultrasound performed in the first trimester of pregnancy, between week 11 and 13 of pregnancy. The test helps determine your baby’s risk of congenital conditions like Down syndrome and is often performed in combination with other tests. The test is highly accurate at detecting conditions when combined with other first-trimester screenings.

Does Markham Fertility Centre offer Trans Nuchal ultrasounds?

Is prenatal screening covered by provincial health insurance (OHIP)?

Enhanced First Trimester Screening (eFTS) is covered by OHIP. Non-invasive prenatal screening (NIPS/NIPT) is covered by OHIP for specific situations which are set by the Ministry of Health. This includes:

Pregnancies in which the age of the egg is 40+ at the estimated date of delivery
Twin pregnancies
Pregnant individuals who have had a prior pregnancy affected by Down syndrome (Trisomy 21),
Trisomy 18, Trisomy 13 or a sex chromosome difference

Knowledge is power.

Prenatal Screening

For a healthy outcome.

Prenatal Screening

For a healthy outcome.

The thought of testing the health of your baby while still in the womb after you have already been through a lengthy process to become pregnant can be scary.

At Markham Fertility Centre, we will guide you through the early stages of your pregnancy. Our affiliation with Markham-Stoufville Hospital provides access to some of the top obstetric care in the country.

About Prenatal Screening

Are 40+ years old at the time of delivery (based on age at time of egg retrieval for IVF conceptions)

Have had a prior pregnancy affected by a chromosome condition

Have not had prior chromosome screening (i.e. conceived spontaneously, via IUI or via IVF without PGT-A)

The two main types of prenatal screening are:

Your Prenatal Screening Journey Begins Here

Genetic Testing Services Provided by Markham Fertility Centre

Carrier Screening

Preimplantation Genetic Testing (PGT)

Prenatal Screening

Common Questions About Prenatal Screening

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