Patau’s Syndrome in Infants: How to Guide Your Pregnant Patient?

Patau’s Syndrome

For an expectant parent it is vital to know whether their baby is in the pink of health. Modern bio medical technology helps them to know the same even before childbirth so that the best care and treatment is provided to the mother and baby. Birth defects could be detected at an early stage of gestation. One of such defects is the Patau’s Syndrome.

So while you knit those baby sweaters or listen to nursery rhymes read on to know more about this birth defect. After all knowledge is rest assuring, isn’t it?

What is Patau’s Syndrome?

Patau’s syndrome is a chromosomal (DNA) abnormality. Also called as trisomy 13, it is a congenital (present at birth) disorder associated with the presence of an extra copy of chromosome 13. Babies are normally born with 46 chromosomes that are arranged in 23 pairs. Children with Patau’s syndrome have an extra copy (three instead of a pair) of chromosome 13 in every cell of their body.

It is the most severe of all chromosomal abnormalities. The extra chromosome 13 causes numerous physical and mental abnormalities. They would have heart problems, a cleft lip and palate, growth issues, poorly formed eyes and ears, kidney related issues and would be physically immobile.

Patau’s syndrome is named after Dr. Kllaus Patau, who had reported the syndrome for the first time.

How Common Is It?

Don’t worry. Pataus’s syndrome is very rare; 2 out of 10,000 births are affected by the disease.

Due to the severity of the it’s effects, sadly fewer than 20% of afflicted babies survive beyond infancy. Most of them die within the initial three months. Some survive a year and some are lost during pregnancy. The average life expectancy of survivors is about 10 years.

How Can I Get It Diagnosed?

Screening test is the answer and commences from the onset of the first trimester. Trisomy 13 is detected and confirmed by examining the infant’s chromosomal patterns from a blood sample of the baby or the mother and ultrasounds scans. Preliminary tests mostly comprise ultrasound scans and blood tests. However there are tests that serve the purpose of detecting Patau’s syndrome.

Amniocentesis:

This procedure is ideally performed between the 14th and 16th week of pregnancy. With the help of an ultrasound scanner a needle is inserted through the mother’s abdomen into her uterus to extract 20 ml of amniotic fluid that floats around the baby. The fluid carries foetal genetic information from which genetic disorders and medical conditions are found out.

The process is pretty invasive and could be uncomfortable experience for the mother and baby.

Chronic Virus Sampling (CVS):

This pre natal diagnostic procedure is performed between the 10th and 12th week of gestation. This test is usually recommended after unusual alterations are detected in the initial ultrasounds. In this test, with the guidance of an ultrasound a needle or a catheter is inserted through the mother’s vagina or abdominal wall and sample of foetal cells is extracted. These cells are further tested to detect chromosomal alterations that could point towards Patau’s syndrome.

Like amniocentesis, CVS is also invasive causing pain and discomfort to the mother and the baby.

NACE Pre-natal Test:

This Non-Invasive Pre-natal Test (NIPT) is a state-of-art test because of its next generation sequential technology and bio informatics analysis. To detect a Patau’s syndrome, this NIPT test only requires sample of 10 ml of maternal peripheral blood (blood from the arm). This is because the DNA cells of the foetus freely float in the maternal plasma in the blood after 10 weeks of gestation. The test is ideally performed between 10th and the 20th week.

Unlike amniocentesis and CVS, NACE Pre-natal test is completely non-invasive. It is painless and causes neither any discomfort nor poses a risk to the health of the mother or the baby. Doctors recommend this NIPT test to be taken as early as possible so that the best decision could be taken for the mother and child.

Are These Screening Tests Harmful?

Though amniocentesis and CVS detect the Patau’s syndrome in the foetus, these tests have their own complications as well. Besides making it an uncomfortable experience for the mother, these tests could a pose some risks to the mother and baby. Some of these include:

However the NACE pre natal test lies in stark contrast to its conventional counterparts. Being non-invasive, the test is like a walk in the park and doesn’t threaten either the mother’s or baby’s health.

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What About The Results?

The preliminary ultrasounds scans and blood tests only detect the possibility of the baby afflicted to Patau’s syndrome. If the result shows lower risk, less than 1 in 150, then there is no need to worry. On the contrary, if it shows a higher risk, like 1 or 2 in 150, then doctors recommend the patient to do amniocentesis or CVS for further investigations.

The test results for amniocentesis and CVS are usually delivered in 2 weeks. This duration could be emotionally taxing for parents who immediately need to take next step in case their baby is susceptible to Patau’s syndrome.

The NACE pre natal test delivers result at the doorstep in a week’s time. Laboratory test procedures are done in two days. The reports would clearly mention the detection of Patau’s syndrome if any and recommend further medical advice.

What If My Baby Is Detected With Patau’s Syndrome?

Brace yourselves and be strong as this might be hurtful. Being the mother you would need to decide what the best is for your baby and family.

There are two options – either continue with the pregnancy and prepare for a baby with Patau’s syndrome or opt for a terminal abortion. Both are unpleasant experiences. At such an hour the mother or parents need to be supported and taken care by extended family and friends including doctors and mid wives.

Anyone can have a baby with Patau’s syndromes. The chance of having a baby with Patau’s syndromes increases with age, especially after 35 years. Therefore older mothers will have a higher chance of having a baby with Patau’s syndrome. It has nothing to do with the genetics of the parents or family. In most cases these conditions do not run in the family.

Now ‘worrying and thinking’ is not going to be of any help. To keep your apprehensions at bay, have a word with your doctor and take a NACE pre natal test. A wise mother is one who prepares herself beforehand.