At Procrea Fertility, our team of genetic specialists is committed to providing you with the highest quality medical services and care. All prenatal tests and ultrasound services we offer focus on the same goal; early detection of possible fetal anomalies. If you have not already done so, speak with your physician for information on the test or exam that best suits your needs, and to confirm that the services are offered at your specific Procrea Fertility clinic.

Most Common Anomalies

Wondering about the health of your baby is extremely common and perfectly normal. There are a number of conditions that can cause concern as you progress through your pregnancy. The most common anomalies include:

Trisomy 21 – Also referred to as Down Syndrome

This genetic anomaly occurs at conception when the fetus receives three copies of chromosome 21, rather than two. Trisomy 21 gives rise to intellectual and physical handicaps (including cardiac disorders) for which it is impossible to predict the degree of severity. All pregnant women can bring a pregnancy to term in which the fetus has Down Syndrome and there is no curative treatment.

Appropriate Prenatal Tests:

Trisomy 18 – Also referred to as Edward’s Syndrome

Trisomy 18 also occurs at conception. It is the result of three copies of chromosome 18 in the fetus, rather than two. In almost all cases the fetus does not survive to birth.
Appropriate Prenatal Tests:

  • Combitest® screening done during the first and/or second trimester of pregnancy.
  • Diagnosis made through Amniocentesis and an Amnio-Express® test.

Trisomy 13 – Also referred to as Patau’s Syndrome

Trisomy 13 is a rarer anomaly than trisomy 21 and 18. Most affected fetuses die in utero or shortly after birth. Those who survive suffer severe physical and mental disabilities.

Appropriate Prenatal Tests: Though strong suspicions may arise during an ultrasound or from the Combitest® screening, a formal trisomy 13 diagnosis can only be made through Amniocentesis and an Amnio-Express® test.

Numerical Anomalies of Sex Chromosomes

These consist of XXY (Klinefelter’s Syndrome) and XO (Turner’s Syndrome) anomalies.
Klinefelter’s syndrome (XXY) only affects boys. During childhood, there is a possibility of learning disabilities in regards to speech and reading. In adulthood, they are almost always infertile (low levels or absence of sperm).

Turner syndrome (XO) only affects girls. In general, they have normal intelligence, however, they may have learning disabilities. They have a shorter height than average. In adulthood, they are almost always infertile (ovarian failure).

Appropriate Prenatal Tests: Diagnosis made through Amniocentesis and an Amnio-Express® test.

Neural Tube Defects

Neural Tube Defects occur when the fetus’ brain or spinal cord does not develop normally from the onset of the pregnancy. The two major neural tube defects are:

  • Spina Bifida which is characterized by a faulty closure of the bone structure surrounding the spinal column. This can lead to physical and mental disabilities varying in severity according to the lesion.
  • Anencephaly which is characterized by the absence of a large part of the skull and brain leading to the death of the fetus before or shortly after birth.

Appropriate Prenatal Tests:

  • Most neural tube defects can be detected with an ultrasound in the second trimester and with the Combitest® in the second trimester of pregnancy (from 15 weeks).
  • Anencephaly can be detected during the first trimester nuchal translucency scan.

The following pages in this section provide more information on the prenatal screening tests mentioned above.

Combitest® and Amnio-Express® are registered trademarks of GROUPE OPMEDIC INC.