In about two meters of DNA strands, humans have a pair of 23 chromosomes. This means every healthy individual has a total of 46 chromosomes in their body. Unfortunately, not every birth is a normal one.
There are many cases in which an abnormality may occur in the morphology of chromosomes. Also known as chromosomal disorders, they may be passed down in families or may occur during conception.
When this happens, the baby is born with certain behavioral and neurological complications. These may affect their facial symmetry and digestive tract as well. According to the World Health Organization, nearly 240,000 babies die every year from congenital disorders within 28 days of birth.
One such (very rare) disorder is the Patau syndrome or a congenital abnormality affecting chromosome 13. In this article, we will discuss this condition in detail along with the possible treatment options and long-term prognosis.
Condition Prevalence and Implications
Also known as Trisomy 13, Patau syndrome occurs when a baby is born with a copy of a part or all of chromosome 13. The actual cause of this condition is unknown. A prenatal diagnosis is possible for this condition due to visible physical abnormalities.
The safest method used for this diagnosis is non-invasive prenatal testing (NIPT) which analyzes cell-free fetal DNA found in maternal blood. Patau syndrome is characterized by cerebral defects, a cleft palate or lip, additional toes or fingers, weight gain complications, underdeveloped internal organs, and issues with cognitive function.
As per the Cleveland Clinic, Trisomy 13 primarily affects the baby’s face, heart, and brain development. It is so rare that only 1 in 20,000 babies are born with this condition. The numbers are also low because many babies do not make it out alive. Patau syndrome carries a high risk of miscarriage and stillbirth. There is also a 1% risk of recurrence.
Treatment Options
Getting to know that one’s baby may suffer from developmental delays or birth defects is not easy. Parents may be overcome with feelings of loss, guilt, and helplessness. Currently, there is no cure for Patau syndrome.
Given the challenging complications that babies must suffer, treatment is often focused on symptom management. Let’s look at the three most common treatment and disease management options for Trisomy 13.
Pregnancy Management
Once a diagnosis is made for Patau syndrome, the healthcare provider will deliver serious information regarding the complications involved and treatment options. The consultation will include discussing care for ongoing pregnancy through genetic counselors.
Disease management during pregnancy will depend on the gestational stage of the diagnosis. During the early stages, the care provider may discuss pregnancy termination as one of the options. If the parents choose to not proceed or the fetus is beyond the termination age, the discussion will shift towards labor and delivery.
In some cases, the labor must be induced due to developmental issues with the fetus. This may also be needed due to emotional stressors and other complications like preeclampsia. Both tocolysis (to prevent preterm uterine contractions) and C-sections are not viable options due to the condition’s lethal nature.
Pregnancy management for Patau syndrome mainly revolves around procedures for resuscitation. Obstetric care providers and neonatal nurses will be involved throughout this stage for safe labor and delivery.
Postpartum and Surgical Care
During the pregnancy management stage, efforts are made to prevent a miscarriage or stillbirth. Once the baby is born, they are attended to by neonatal intensive care nurses. Vital signs are monitored for at least a month since many babies may die a few weeks after being born.
As for the mother, she is also monitored for any post-birth complications. In the case of preeclampsia, most women recover soon after childbirth. They will be administered medication to prevent seizures and high blood pressure.
When the mother is stable, she may be placed under the direct care of nurse practitioners. Even family nurses can help with the transition to parenthood. Trained through family nurse practitioner online programs or offline courses, these nurses will educate new parents on basic infant care (especially given the Trisomy 13 condition).
According to Cleveland State University, family nurses will focus on holistic care using their knowledge of pharmacology and pathophysiology. They may assist neonatal nurses in understanding postpartum changes. For the first few months of life, no surgical interventions are performed on the baby.
They will depend upon the severity of physical and neurological defects. Surgery will affect the baby’s chances of survival, for better or for worse. The most common surgical intervention required for babies born with Patau Syndrome concerns the heart.
Physical and Speech Therapy
If the baby is safely past the stage of pregnancy, delivery, and surgery, it will require physical, speech, and audiological therapies to reach full developmental potential. These therapies will primarily focus on their daily living skills, including sensory processing and motor control.
During the growth stages, regular check-ups become important and the baby must be administered medication to reduce symptoms. With proper pain management and additional therapies, medical intervention focuses on improving the child’s living conditions.
Now that we’ve discussed the condition and the available treatment options, let’s talk about the long-term outlook. As per the Mississippi State Department of Health, Patau syndrome is so serious that less than 10% of babies live for one year. The median life expectancy after birth is just 7 to 10 days.
There is only one known case of a surviving child who lived up to 32 years after birth. Perhaps medical science may advance to an extent that even this genetic disorder has a cure in the future. As of now, the sole focus is to manage symptoms and improve the baby’s quality of life.
Throughout his career, Andras Kovacs has developed a deep understanding of DNA and its applications in genealogy and genetic testing. He has helped thousands of individuals uncover their ancestral heritage, using cutting-edge DNA analysis to trace family lineages and reveal connections across generations.