Most Common baby Anomalies

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.

Risk increases
as a function
of maternal age.

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

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.

Risk increases
as a function
of maternal age.

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

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.

Risk increases
as a function
of maternal age

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

Numerical Anomalies of Sex Chromosomes These consist of XXY (Klinefelter's Syndrome) and XO ( Turner's Syndrome) anomalies.

Numerical anomalies of XO type sex chromosomes can lead to severe developmental problems in the fetus or to its death before the term of the pregnancy or at birth.

With regards to numerical anomalies of XXY type sex chromosomes, the first symptoms will generally manifest themselves in young men at puberty (infertility and male hormone deficiency).

No specific
risk factors.

No increase
in risk
due to
maternal age.

Diagnosis made through Amniocentesis and Amnio-Express®.

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. Certain individuals with spina bifida can lead active lives while others are unable to walk and may suffer from incontinence.
• 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.

Folic Acid
Deficiency.

Family History.

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).

Nevertheless anencephaly can be detected during the first trimester nuchal translucency scan.