Mariah Minera Eniglish 1A T-TH 5:30-6:50 Trisomy 18 Mariah Minera Eniglish 1A T-TH 5:30-6:50

What is Trisomy 18? Trisomy 18 is also known as Edwards Syndrome is a condition that affects chromosomes. Trisomy 18 happens when a baby receives three copies of chromosome 18 in every cell in there body. A baby receives three copies of chromosomes when the baby gets an extra chromosome 18 from one parent.

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Abnormal Chromosomes According to Moore aneuploidy is the major reason for 60% of miscarriages in the first trimester, in addition to having abnormal karyotypes. Aneuploidy: Abnormal number of chromosomes in a cell Karyotype: Number of chromosomes in cell nuclei of an organism or species. Babies with Trisomy 18 are considered medically fragile 5%-10% of babies with Trisomy 18 live past there 1st birthday .

F.I.S.H for Early Detection According to Moore FISH is a useful way to study the number of chromosome copies in interphase cells. FISH stands for Fluorescence, In, Situ, Hybridisation. By using this method FISH shows(1:3000) births of babies with Trisomy 18 can survive tell birth. Pregnancies are lost at the gestation 5.8% being still born and 0.59% live born.

Facial Markers early Detection According to the article Facial Markers … This study shows that nasal markers are being used for early detection of chromosome defects. This technique has been used for the past 15 years. Using the measurements of the nasal bone, Length, the prenasal thickness, and prefrontal space ration helps find specific fetal anomalies. This study started with 132 babies with Trisomy 18 using the nasal markers as signs for Trisomy 18 they were able to diagnose 111 babies.

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Physical Markers For Babies With Trisomy 18 According to the article written by Fuji, distinguishing an chromosomal defect early can help prolong a life by giving the proper care. Distinguishing Markers Overlapping Fingers Rock hard bottom foot Under developed ligaments Low set ears Small head, arms, legs, fingers, toes

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Internal Characteristics Defects of Heart Brain Spinal Cord Internal Organs Difficulty regulating their breathing and body temperate Unable to feed properly (Fuji)

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Valeska Yulianna Monares Minera My aunt found out she was pregnant and a few months in she went to the doctors for what she thought was going to be a routine check up. The doctors ran multiple test and discovered that the baby had Trisomy 18. Giving my aunt and Uncle a very low survival rate for their baby they decided to still carry her tell term. My aunt and uncle are very religious that playing a role in why they decide to keep the baby and not get an abortion. They both have kids of there own but this was there first baby together letting something like that go has to be the hardest decision they had to make . My baby cousin was born on March 4, 2015 she was very tiny the smallest baby I had every seen. She looked different than every other baby but she was beautiful in her own unique way. She had a small arm that didn’t develop fully my family called it her angel wing. Her head was smaller than normal but god was she beautiful. She passed away a month later on April 15,2015. She was a fighter that little one. During her month of life she has trouble feeding and she had to wear an oxygen tank to breath not all the time but sometimes she would start turning blue and purple. She wasn’t expected to live even an hour after birth but she hung on as long as she could and she filled the room with joy and was very much loved during her days alive. Trisomy 18 is a very terrible condition that causes an extreme amount of medical problems and is rare but I feel its important to be aware of it and spread the word.

Valeska Yulianna Monares Minera

Work Cited Page Graham, Eric. "Infants with Trisomy 18 and complex congenital heart defects should not undergo open heart surgery. " Journal of law , Medicine and Ethics. Summer 2016, Vol.44 issue2, p286- 291.6p.https://chaffey.idm.oclc.org/login?url=http://search.ebscohost.com/login.asp x?direct=true&db=a9h&AN=116518560&site=ehost-live.  Kagan, K.O." Facial markers in second and third- trimester fetuses with trisomy 18 or 13 , triploidy or Turner syndrome." Ultrasound in obstetrics and gynecology. Jul 2015, Vol.46 Issue 1, P 65.6P. https://chaffey.idm.oclc.org/login?url=http://search.ebscohost.com/login.aspx ?direct=true&db=a9h&AN=108757662&site=ehost-live Morre, GE. "Examination of trisomy 13,18 and 21 fetal tissues at different diffrent gestational ages using fish." European Journal of Human Genetics.Mar 2000, Vol.8 Issue 3, P223.6p.https://chaffey.idm.oclc.org/login?url=http://search.ebscohost.com/login.as px?direct=true&db=a9h&AN=8850866&site=ehost-live

Work Cited Page Cont. Peristein, David. "Trisomy18 (Edwards Syndrome). 1996- 2017 medicine Net, Inc" http://www.medicinenet.com/trisomy_18_edwards _syndrome/article.htm Yoshimitsu, Fuji. "The diagnostic significance of comorbidities of Congenital heart diseases, low- set ears, and introterine growth restriction in nconates with Trisomies 13 and 18." Iranian Journal of pediatrics. Aug2016, Vol.26 Issue4, P1- 5.5P.https://chaffey.idm.oclc.org/login?url=http://searc h.ebscohost.com/login.aspx?direct=true&db=a9h&AN =118972874&site=ehost-live