Meckel Gruber Syndrome Research Paper

Describe None Reported XYY Chromosome? No Raised by whom? Both parents Parent’s marital status Married Did serial killer spend time in an orphanage?

Research has been with the fetal tissue for several kinds of diseases to help find a

The exact cause of spina bifida is unknown. It seems to run in families.

Damage to the brain tissue as a result of periventricular leukomalacia can lead to serious consequences for the affected neonate. It is associated with the development of cerebral palsy, intellectual impairment, and disturbances of vision, hearing, and speech. Though the pathology can be seen in later preterm and term infants, it

Reflective Journal Caesarean Section Observation On September 20th, I observed a caesarean delivery of a baby boy. The procedure was scheduled to begin at 1700. The mother arrived at 1500 accompanied by her husband. She settled in the room that she would remain after the procedure. The mother was G2P1 and have had a previous caesarean to deliver her first child.

The disease is a mutation of the X chromosome on a gene named methyl-CpG-binding protein 2 or MeCP2. Although MeCP2 is a genetic mutation, the defective gene is never inherited from the parents. The MeCP2 gene generates a multi-functional protein necessary in the development of the nervous system, especially the brain. Rett Syndrome affects the brains functions causing an impact on learning, speech, sensory sensations, mood, breathing, cardiac function, as well as chewing, swallowing and digestion. Female offspring have two X chromosomes; the child survives because the extra X chromosome she has is normal enough, whereas male offspring are born with one X chromosome.

1. Similar to other diseases like, say, cancer, having family members who have it can increase your chance of getting it, though specific genes have been difficult to truly pin. 2. For those with Down syndrome, a gene contained in the extra chromosome increase the risk. 3.

Of the percentage effected, girls are at a greater risk of being born with the syndrome than boys making up 80% of the effected. Similar to down syndrome, people born with Edwards syndrome are born with an extra chromosome 18 in the DNA strand that disrupts

Sarah is a 24yo, G3 P0020, who is currently 10 weeks 5 days. She has a notable history for 2 prior first trimester losses; one required a D & C. She is obese with a BMI of 39. Because of these losses, she has been followed very closely with this pregnancy. She also had fairly significant bleeding between 6-8 weeks and a subchorionic hemorrhage was noted, but on her last scan at 8 weeks it was no longer seen. She has had a small cyst on the left ovary.

The older the mother gives birth, the higher the risk of the baby receiving the condition. For example, a mother the age of 30 has a one in a thousand, a mother the age of 35 has a

Also, initiating prompt delivery in the presence of fetal acidosis, late decelerations, or poor beat-to-beat variability (Behrman, 2004).

23 inherited from the father called paternal and 23 from the mother called maternal. On the 46 chromosomes there are alleles that code for certain traits. If some allelic traits are not expressed (imprinted) can cause genetic disorders like Prader-Willi or Angelman syndrome (2013, Klug). Prader-Willi Syndrome and Angelman Syndrome Prader-Will and Angelman are two

Firstly, assessing the patient blood pressure, any bleeding, taking history and then taking blood samples for complete blood count, showing low red blood cells, test for bilirubin confirming hemolysis as it increased to more than 1.2 milligram per deciliter, platelet, ALT, AST, LDH (Schub & Boling, 2014). Concerning the fetal monitoring, test like fetal heart monitoring, occasional ultrasound, cardio-tocho-graph, and Doppler blood flow studies would be done (Schub & Boling, 2014). Overall, the nurses are asked to monitor all maternal and fetal systems, and watch for any of the symptom mentioned above, assess for any complication like seizure, hypovolemic shock, always maintain the safety of the patient as well as complete bed rest for them (Schub & Boling,

1. The additional tests that need to be performed are amniocentesis and cordocentesis. Cordocentesis is based on using high-resolution ultrasound with colour Doppler enhancement of blood flow, in which the umbilical vein is seen at the level of the cord insertion into the placenta. A needle is used and injected into the umbilical vein and fetal blood collected.

Birth, of course, does not mark the beginning of human development; rather, development begins at conception. Once the fertilized egg is produced, there are many events and hazards that can influence how it develops and becomes a person. During the nine months of prenatal development is critical in determining the health and optimal structure of a newborn. (Lazinski, 2008). Can be tested through ultrasound sonography, fetal MRI, chorionic villus sampling, amniocentesis and blood screening.