Specific Birth Defects

Major birth defects are structural changes in one or more parts of the body. They are present at birth. They can have a serious, adverse effect on the health, development, or functional ability of the baby.

Information about Anencephaly

Anencephaly is a serious birth defect in which a baby is born without parts of the brain and skull. It is a type of neural tube defect (NTD). As the neural tube forms and closes, it helps form the baby’s brain and skull (upper part of the neural tube), spinal cord, and back bones (lower part of the neural tube).

Anencephaly happens if the upper part of the neural tube does not close all the way. This often results in a baby being born without the front part of the brain (forebrain) and the thinking and coordinating part of the brain (cerebrum). The remaining parts of the brain are often not covered by bone or skin.

During pregnancy, there are screening tests (prenatal tests) to check for birth defects and other conditions. Anencephaly would result in an abnormal result on a blood or serum screening test or it might be seen during an ultrasound (which creates pictures of the body).

Information about Congenital Heart Defects

CHDs are present at birth and can affect the structure of a baby’s heart and the way it works. They can affect how blood flows through the heart and out to the rest of the body. CHDs can vary from mild (such as a small hole in the heart) too severe (such as missing or poorly formed parts of the heart).

About 1 in 4 babies born with a heart defect has a critical CHD (also known as critical congenital heart disease).

Some CHDs may be diagnosed during pregnancy using a special type of ultrasound called a fetal echocardiogram, which creates ultrasound pictures of the heart of the developing baby. However, some CHDs are not detected until after birth or later in life, during childhood or adulthood.

Information about Trisomy Aneuploidies

Trisomy 21 – Down Syndrome

Down syndrome is a condition in which a person has an extra chromosome. Typically, a baby is born with 46 chromosomes. Babies with Down syndrome have an extra copy of one of these chromosomes, chromosome 21. A medical term for having an extra copy of a chromosome is ‘trisomy.’ Down syndrome is also referred to as Trisomy 21. This extra copy changes how the baby’s body and brain develop, which can cause both mental and physical challenges for the baby.

Although women of any age can have a child with Down Syndrome, the chance of having a child with this condition increases with maternal age.

Trisomy 18 – Edwards Syndrome

Trisomy 18 is the second most common type of trisomy syndrome, after trisomy 21 (Down syndrome). About 1 in every 5,000 babies is born with trisomy 18, and most are female.  In the case of trisomy 18, the baby has three copies of chromosome 18. This causes many of the baby’s organs to develop in an abnormal way. Many babies with trisomy 18 don’t survive past the second or third trimester of pregnancy.

Trisomy 13 – Patau Syndrome

Trisomy 13 Syndrome is a rare chromosomal disorder in which all or a portion of chromosome 13 appears three times (trisomy) rather than twice in cells of the body. In some affected babies, only a percentage of cells may contain the extra 13th chromosome (mosaicism), whereas other cells contain the normal chromosomal pair.

Trisomy 13 occurs in about 1 out of every 10,000 newborns. Most cases are not passed down through families (inherited). Instead, the events that lead to trisomy 13 occur in either the sperm or the egg that forms the fetus.

Sex Chromosome Aneuploidies

Trisomy X

Triple X syndrome, also called trisomy X, is a genetic disorder that affects about 1 in 1,000 females. Females normally have two X chromosomes in all cells — one X chromosome from each parent. In triple X syndrome, a female has three X chromosomes.

Many girls and women with triple X syndrome have no symptoms or only mild symptoms. In other cases, symptoms may be more pronounced — possibly including developmental delays and learning disabilities.

Monosomy X (Turner Syndrome)

A girl inherits one X chromosome from each parent. If a girl has Turner syndrome, one copy of the X chromosome is missing or significantly changed. The missing or altered X chromosome of Turner syndrome causes errors during fetal development and other developmental problems after birth — short stature, ovarian failure and learning disabilities.

XXY (Klinefelter Syndrome)

Klinefelter syndrome occurs when a boy is born with one or more extra X chromosomes. Most males have one Y and one X chromosome. Having extra X chromosomes can cause a male to have some physical traits unusual for males. Many men with an extra X chromosome are not aware that they have it, and they lead normal lives. Klinefelter syndrome occurs in about 1 out of 1,000 males.

XYY (Jacob’s Syndrome)

XYY syndrome is a rare chromosomal disorder that affects males. It is caused by the presence of an extra Y chromosome. Affected individuals are usually very tall. Many experience severe acne during adolescence. Additional symptoms may include learning disabilities and behavioral problems such as impulsivity. Intelligence is usually in the normal range, although IQ is on average 10-15 points lower than siblings.

Chromosomal deletion syndromes

Chromosomal deletion syndromes result from loss of parts of chromosomes. They may cause severe congenital anomalies and significant intellectual and physical disability. Chromosomal deletion syndromes are rarely suspected prenatally but may be incidentally discovered at that time if karyotyping is done for other reasons.

Screening test, Diagnostic test and Ultrasound scans

There are basic types of tests and scans available to detect specific birth defects and chromosomal abnormalities during pregnancy.

Prenatal cell-free DNA (cfDNA) screening, also known as noninvasive prenatal screening, is a method to screen for certain specific chromosomal abnormalities in a developing baby. During prenatal cell-free DNA screening, DNA from the mother and fetus is extracted from a maternal blood sample to screen for the increased chance for specific chromosome problems.

In our clinic, we can offer you to do:

  • iGene test

The iGene test gives the expectant mother complete assurance about the health of her unborn baby. It is more than 99% accurate in the detection of trisomies (an abnormality when three copies of a particular chromosome are present, instead of the usual two copies.) The test can be taken in the clinic from as early as 12 weeks of gestation.


An OSCAR test, or ‘One-stop Clinic for Assessment of Risk for Fetal Anomalies’, is a test carried out in the first trimester to screen for the risk of fetal anomalies, particularly for Down’s Syndrome (Trisomy 21). The test can be taken together with iGene test from as early as 12 weeks of gestation.

  • Diagnostic tests

Diagnostic tests are usually performed after a positive screening test. Types of diagnostic tests include:

  • Chorionic villus sampling (CVS)—examines material from the placenta
  • Amniocentesis—examines the amniotic fluid (the fluid from the sac surrounding the baby).
  • Percutaneous umbilical blood sampling (PUBS)—examines blood from the umbilical cord.
  • Viability Scan

This is an ultrasound examination that is done vaginally ideally at 6-10 weeks of pregnancy to determine the number of embryos present and whether the pregnancy is progressing normally inside the uterus.

Routine Transabdominal Scan

This is done from 15 weeks of pregnancy to examine and measure each part of the fetal body. This scan will also date the pregnancy.

Fetal Anomaly Scan

This is a detailed scan at 19-22 weeks of pregnancy.

During the scan, each part of the fetal body is also examined, position of the placenta is determined, amount of amniotic fluid is assessed, and fetal growth is measured. Special attention is paid to the brain, face, spine, heart, stomach, bowel, kidneys and limbs to detect any abnormalities or defects.

Fetal Well-being Scan with Doppler Studies

This scan aims to determine the growth and health of the fetus by measuring the size of the fetal head, abdomen and thigh bone and calculation of an estimate of fetal weight, examining the movements of the fetus, evaluating the placental position and appearance, measuring the amount of amniotic fluid and assessment of blood flow to the placenta and fetus by colour Doppler ultrasound.

This ultrasound scan is usually carried at about 32 weeks of pregnancy.

Cervical Scan

This is a scan done transvaginally to measure the length of the cervix. This scan is recommended at a later stage of pregnancy to evaluate and detect risk of preterm birth.

Lower Vaginal Swab (LVS)

Also known as Group B streptococcus screening: Vaginal and rectal swabs are taken at 35 to 36 weeks of pregnancy to detect group B strep bacteria. Although group B strep can be present in up to 30% of all healthy women, it’s the leading cause of life-threatening infections in newborns and can also cause mental retardation, impaired vision, and hearing loss. Women who test positive are treated with antibiotics during delivery to protect the baby from contracting the infection at birth.


Cardiotocography or CTG is a test usually done in the third trimester of pregnancy. The test records your baby’s movement, heartbeat, and contractions. It notes changes in heart rhythm when your baby goes from resting to moving, or during contractions if you’re in labor. This is a simple, noninvasive way to reassure you that your baby is healthy and getting enough oxygen.

Labour and Delivery Care

We will discuss your birthing plan and do everything we can to meet your wishes while still keeping you and your baby safe. Your doctor and nurses will help you create a plan that outlines your wishes surrounding labor and delivery, including pain management. All your questions will be addressed promptly and expertly.

Painless Delivery

Epidural anesthesia has become a popular and effective form of childbirth pain relief. This involves the insertion of a sterile guide needle and a small tube (epidural catheter) into the space between the spinal cord and outer membrane of the spinal cord (epidural space). An anesthetic medicine is injected into the catheter to numb your body above and below the point of injection, as needed. The amount of discomfort or pain that you have depends on the amount of anesthetic used. Less anesthetic (often called a light epidural) will allow you to be more active in your labor and feel enough to push effectively. With higher levels of anesthetic, you will feel little or no pain from your contractions. You may be required to remain in bed when an epidural is used. You will also have a tube placed in a vein (intravenous, or IV tube) and a fetal monitor.

Induction of Labor

You can trust that we have we will always want what’s best for you and your baby. If your doctor has concerns about your health or your baby’s health toward the end of your pregnancy, he might suggest speeding up the process. This is called inducing labor, or induction. Instead of waiting for labor to start naturally, your doctor will use drugs or a procedure to start it sooner.

Induction can be the right choice for some women, but it has risks. Why do some women need to have labor induced?

You are 1 to 2 weeks past your due date.

Your water breaks but labor doesn’t start.

You have a health problem like diabetes, high blood pressure, preeclampsia, or eclampsia that puts you or your baby at risk.

If your baby is not growing normally or has an abnormal heart rate

Assisted delivery with Neville Barnes Forceps

In an assisted vaginal delivery, the doctor will use special tools called NB forceps to help move the baby through the birth canal. You will be given medicine to block pain. This may be an epidural block or a numbing medicine placed in the vagina.

The forceps will be carefully placed on the baby’s head. Then, during a contraction, you will be asked to push again. At the same time, the doctor will gently pull to help deliver your baby.

After the doctor delivers the baby’s head, you will push the baby the rest of the way out. If the forceps do not help move your baby, you may need to have a Cesearean section (C-section).

Caesarean Section

A cesarean section is the delivery of a baby through a cut (incision) in the mother’s belly and uterus. It is often called a C-section. In most cases, a woman can be awake during the birth and be with her newborn soon afterward.

A C-section may be planned or unplanned. In most cases, your doctor will call for a C-section because of problems that arise during labor, previous C-section delivery and/or complications in pregnancy such as multiple birth, Cephalo-pelvic disproportion, placenta previa, pregnancy-induced hypertension, malpresentation, fetal distress, failed induction, maternal infection, etc.

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