The procedure is usually carried out at 14-16 weeks. Amniocentesis tests for chromosome disorders, and is 99.8% reliable for chromosome number, there is however a risk of miscarriage (usually 1/250 or less) after the procedure. This is one of the reasons why amniocentesis has only been offered to over 35's (since they have a much higher risk of having a Down syndrome child)(Webb 1990). Previous studies on amniocentesis concentrated on problems that might arise during pregnancy or immediately after, these studies found that children whose mothers had amniocentesis are more likely to have breathing problems in the first few days after birth. A study performed by Jo-Anne Finegan in Toronto followed 88 women who had, had amniocentesis, there was an increased incidence of ear infection in this group.
One study conducted by Helle Kieler of the Karolinska Institute in Stockholm, Sweden found that in men born between 1976 and 1978 who had ultrasound scans in the womb, 32 percent more than expected were left-handed. Kieler believes that a process called cavitation takes place. Brain Development is affected by vibration of small bubbles in the body fluids during ultrasound scans (Sample, 2001). Kathleen Stassen Berger states in the textbook, Developing Person through Childhood and Adolescence that “Preschool teachers notice that about one child in ten prefers the left hand” (Berger, 2012, p.231). Christian Jarrett in Psychology Today agrees, stating that 10% of the population is left handed (Jarrell, 2013).
Sensorial Symptoms Disorders related to sight are likely to arise in half of the affected population. Strabismus and cataracts touch 20%... ... middle of paper ... ...y in men with Down syndrome: a case report".Fertil Steril 86 (6): 1765.e1–3. (14) Jeffrey S. Dungan &; Sherman Elias (Last revision 2008). "Prenatal diagnostic testing". Merck manual home health handbook.
There are many possible reasons why a child may grow slowly, including: hereditary factors (short parents), diseases affecting the kidneys; heart, lungs or intestines; hormone imbalances; severe stress or emotional deprivation; infections in the womb before birth; bone diseases; and genetic or chromosomal abnormalities. The Turner Syndrome (known as Ullrich-Turner Syndrome in Germany) is a congenital disease. A German doctor named Ullrich published his article in 1930. American doctor Henry Turner recognized a pattern of short stature and incomplete sexual maturation in otherwise normal females. He published a comprehensive medical description of the syndrome.
Down's Syndrome Down's syndrome is a genetic condition involving an extra chromosome, this change occurs around the time of conception. A person with Down's syndrome has forty-seven chromosomes instead of the usual forty-six. A relatively common genetic disorder, Down's strikes 1 out of 600 babies. In 95 percent of all cases, the disorder originates with the egg, not the sperm, and the only known risk factor is advanced maternal age-at age 35, a woman has 1 chance in 117 of having a baby with Down's; at 40, her odds are 1 in 34. (Graves, 1990) People with Down's syndrome all have a certain degree of learning disability .
This excess genetic material, in the form of additional genes along the 21st chromosome, results in DS. The estimated incidence of Down syndrome is between 1 in 1,000 to 1 in 1,100 live births. Each year approximately 3,000 to 5,000 children are born with this chromosome disorder. It is believed there are about 250,000 families in the United States who are affected by DS. (Berg, 614) Discussed in this paper will be a more detailed description of the pathophysiology of Down syndrome, as well as the discovery, possible causes, physical features, associated conditions, possible treatment, electroneurodiagnostic corollaries, and psychosocial issues.
Down syndrome is a chromosomal disorder that occurs when a baby is born with an extra chromosome in each of their cells. It is the most common of the chromosomal disorders. One in every 691 babies is born with DS (Down syndrome) and there are approximately over 400,000 people living with DS in the United States today. Although it is not genetic, it has been proven that mothers older than thirty-five are more likely to have a baby with Down syndrome. Individuals with Down syndrome have varied cognitive delays, meaning that they learn and develop slower than the average person, but they are still able to live normal lives.
Rett syndrome is a neurological disorder that mainly affects females. According to “The Molecular Pathology of Rett syndrome: Synopsis and Update”, it states that the disorder starts to be recognizable when the child is between six to eighteen months of age. The affected child will loose their ability to speak and hand movements. Through research, MECP2 is in the X chromosome gene (2006). An estimate of females that suffer from Rett syndrome is 1 in 1,000 and in the United States, it is approximately 16,000 young and adult females that are affected (Rett Syndrome, 2008).
MFS has been recognized for more than 100 years, in fact it was speculated that Abraham Lincoln had the disorder (Amado & Thomas, 2002). There is still no current cure, but early recognition and intervention can play a key role in the prevention of the sudden cardiac complications (Midla, 2008). For those Marfan patients diagnosed the life expectancy is close to normal, yet tends to be under diagnosed (Pyrietz, 2000). The nurse should have a broader understanding of MFS since recognition is essential for the diagnosis. Since MFS is primarily an inherited disorder, it of equal importance that the nurse understands that a referral to a geneticist is an imperative n... ... middle of paper ... ...ssion, and anxiety can occur (Giarelli et al., 2010).
Patients were enrolled in the study if they fulfilled the following criteria : (i) presenting within 12 h onset of symptoms (typical chest pain lasting for > 30 min); (ii) ≥1 mm ST-segment elevation of in at least two contiguous electrocardiogram leads except V2-V3 which required 1.5 mm for female and 2 mm for male patients or new onset left bundle-branch block; (iii) treatment with primary PCI (angioplasty and/or stent deployment).All primary PCI procedures were performed in a single high-volume tertiary center (>3000 PCI/year) by expert operators performing more than 75 PCIs per year (15 of them are primary PCI). The study protocol was app... ... middle of paper ... ...R for two different end points. The ratio of 3.6 predicted in hospital mortality with 78% sensitivity and 82% specifity. On the other hand, the ratio of 3.3 predicted 6 months mortality with 71% sensitivity and 76% specifity. Our values are different from previous studies regarding the cut off V/GFR ratios.