GROUP TOPIC: Patau Syndrome Flashcards
-Trisomy 13
-A serious chromosomal disorder characterized by multiple malformations resulting from an extra copy of all or part of chromosome 13.
-Newborns may be smaller than average and exhibit distinctive facial features, along with poor muscle tone.
-First observed by THOMAS BARTHOLIN in 1657
-However, the actual genetic and chromosomal-related parts of it were discovered by DR. KLAUS PATAU in 1960.
Patau Syndrome
-Trisomy_____
-A serious chromosomal disorder characterized by ______ resulting from an extra copy of all or part of chromosome____.
-Newborns may be smaller than average and exhibit distinctive facial features, along with poor muscle tone.
-First observed by ______ in 1657
-However, the actual genetic and chromosomal-related parts of it were discovered by_________in 1960.
Trisomy 13
A serious chromosomal disorder characterized by multiple malformations resulting from an extra copy of all or part of chromosome 13.
Newborns may be smaller than average and exhibit distinctive facial features, along with poor muscle tone.
First observed by THOMAS BARTHOLIN in 1657
However, the actual genetic and chromosomal-related parts of it were discovered by DR. KLAUS PATAU in 1960.
3 possible causes of trisomy 13
-COMPLETE TRISOMY 13
-MOSAIC TRISOMY 13
-TRANSLOCATION
3 possible causes of trisomy 13: The presence of an extra (third) chromosome 13 in all of the cells.
COMPLETE TRISOMY 13
3 possible causes of trisomy 13: An extra copy of chromosome 13 appears in some cells in the body but not all cells.
MOSAIC TRISOMY 13
3 possible causes of trisomy 13: Can also occur when chromosome 13 becomes attached to another chromosome during the formation of reproductive cells (eggs and sperm) or very early in fetal development.
TRANSLOCATION
PHYSICAL DEFORMITIES:
-Smaller head (________)
-Cleft lip or cleft palate
-Extra fingers or toes (_______)
-The rounded bottom of the feet (rocker-bottom feet)
-Very small or poorly developed eyes (_______)
-Weak muscle tone (_______)
PHYSICAL DEFORMITIES:
Smaller head (microcephaly)
Cleft lip or cleft palate
Extra fingers or toes (polydactyly)
The rounded bottom of the feet (rocker-bottom feet)
Very small or poorly developed eyes ( microphthalmia)
Weak muscle tone (hypotonia)
UNDERDEVELOPED ORGANS:
Heart defects
Abdominal wall defects
The brain often does not divide (__________)
UNDERDEVELOPED ORGANS:
Heart defects
Abdominal wall defects
The brain often does not divide (holoprosencephaly)
-Due to these life-threatening complications, survival beyond a year is rare.
-They have a short life expectancy
-___% of infants with Patau syndrome didn’t last long and passed away during their first few weeks of life. Only ____% of infants survive past their first year.
80%
10%
Detection
- ______________
Combines a blood test with an ultrasound to assess the risk of chromosomal abnormalities - ____________
Collection of fluid behind the neck of the fetus.
Detection
First-trimester screening-
Combines a blood test with an ultrasound to assess the risk of chromosomal abnormalities
Nuchal Translucency-
Collection of fluid behind the neck of the fetus.
Diagnosis
Can be diagnosed “prenatally” through :
_________- Performed between 10-13 weeks of pregnancy, this involves taking a sample of placental tissue for genetic analysis.
_________ - usually done between 15-20 weeks, this test involves analyzing amniotic fluid for chromosomal abnormalities.
Diagnosis
Can be diagnosed “prenatally” through :
Chorionic villi sampling- Performed between 10-13 weeks of pregnancy, this involves taking a sample of placental tissue for genetic analysis.
Amniocentesis - usually done between 15-20 weeks, this test involves analyzing amniotic fluid for chromosomal abnormalities.
Testing
_____________-
Analyzes fetal DNA in the mother’s bloodstream. It has a high accuracy rate for detecting Patau syndrome.
_________________-
A karyotype analysis can confirm the presence of an extra chromosome 13.
Testing
Non-Invasive Prenatal Testing (NIPT)
Analyzes fetal DNA in the mother’s bloodstream. It has a high accuracy rate for detecting Patau syndrome.
Postnatal Testing
A karyotype analysis can confirm the presence of an extra chromosome 13.
TREATMENT/ THERAPY
There is no specific treatment for this syndrome. However, the following measures may be taken to fix the symptoms:
Surgery—to correct the congenital anomalies.
__________ - for nutritional support to those who struggling to eat
Occupational, physical, and speech therapy - To enhance their quality of life and developmental outcomes.
tube fed
