Chromosomal Disorders Nursing Lecture Resource


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Chromosomal Disorders Nursing Lecture Resource

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  2. 2. Disclaimer <ul><li>All information and pictures presented in this slideshow were meant for EDUCATIONAL purposes only. does not claim any liability from the use of this slide and does not guarantee any action that might result from the use of this material. does not claim any ownership for the images and articles presented in this report. All articles and Images are the respective Copyright property of the respective owners. </li></ul>
  3. 3. Definitions <ul><li>Gene: smallest unit of a single characteristic </li></ul><ul><li>Chromosome: structural elements in the cell nucleus that carry the genes and convey genetic information </li></ul><ul><ul><li>Each cell (except RBO) contain all of the chromosomes from both parents in the nucleus </li></ul></ul><ul><ul><li>23 pairs of chromosomes come from each parent </li></ul></ul><ul><ul><li>Autosome: one of the 22 pairs of chromosomes that is not responsible for determining the sex of the child </li></ul></ul><ul><ul><li>Sex Chromosome: X and Y chromosomes responsible for sex determination </li></ul></ul>
  4. 4. Chromosomal Defects <ul><li>Abnormal Number </li></ul><ul><ul><li>Monosomy: one less than the diploid number (45) </li></ul></ul><ul><ul><li>Trisomy: one more than the diploid number (47) </li></ul></ul><ul><li>Mosaicism: some cells have the correct number of chromosomes and some have more or less than the correct number of chromosomes </li></ul><ul><li>Abnormal Structure </li></ul><ul><ul><li>Deletion: loss of a chromosomal segment </li></ul></ul><ul><ul><li>Translocation: the occurrence of a chromosomal segment at an abnormal site either on another chromosome or in the wrong position on the same chromosome </li></ul></ul>
  5. 5. Prenatal Diagnosis <ul><li>Maternal Serum Alpha-fetoprotein (MSAFP) </li></ul><ul><ul><li>Done at 16 – 18 wks gestation </li></ul></ul><ul><ul><li>High MSAFP: incorrect dates; multiple gestation; neural tube defects, abdominal wall defects; renal anomalies; esophageal or intestinal obstructions </li></ul></ul><ul><ul><li>Low MSAFP: incorrect dates; chromosomal defect (esp. Trisomy 21) </li></ul></ul><ul><li>Ultrasound </li></ul>
  6. 6. <ul><li>Amniocentesis </li></ul><ul><ul><li>Usually done at 16 – 18 wks gestation </li></ul></ul><ul><ul><li>Fluid analysis may require up to 2-3 wks </li></ul></ul><ul><ul><li>Can usually determine: fetal sex, metabolic disorders, chromosomal abnormalities </li></ul></ul><ul><li>Chorionic Villus Sampling (CVS) </li></ul><ul><ul><li>Usually done at 8 – 10 wks gestation </li></ul></ul><ul><ul><li>Fetal cell analysis usually takes 24 – 48 hours </li></ul></ul>
  7. 7. Newborn Care <ul><li>History </li></ul><ul><ul><li>Family History: any similar relatives, frequency of spontaneous abortions </li></ul></ul><ul><ul><li>Prenatal History: fetal activity, maternal exposures, uterine malformations </li></ul></ul>
  8. 8. Newborn Assessment <ul><li>Face: configuration, spacing of feature, location of features </li></ul><ul><li>Head: size and shape of skull, fontanel </li></ul><ul><li>Eyes: structure, location, color of iris </li></ul><ul><li>Ears: low set or correct location, skin tags </li></ul><ul><li>Nose: number of nares, location, flattened bridge </li></ul><ul><li>Oral: size and shape of tongue, mouth, jaw </li></ul><ul><li>Neck: webbing, extra folds </li></ul><ul><li>Hands & Feet: broad, square, polydactyly, abnormal creasures, contractures, overriding fingers or toes </li></ul>
  9. 9. Family Support <ul><li>Crisis </li></ul><ul><li>Grief – loss of “perfect child” </li></ul><ul><li>Genetic counseling </li></ul><ul><li>Identify the normal </li></ul>
  10. 10. Trisomy 21 <ul><li>a.k.a. Down’s Syndrome </li></ul><ul><li>Caused by an extra chromosome 21 </li></ul>Normal Karyotype Trisomy 21 ( 47,XY,+21)
  11. 11. Trisomy 21 <ul><li>Incidence </li></ul><ul><ul><li>1 : 650 – 1000 live births, parental age related </li></ul></ul><ul><ul><li>75 % abort spontaneously </li></ul></ul><ul><ul><li>Sex ratio: 3 males / 2 females </li></ul></ul><ul><ul><li>Most common autosomal chromosomal disorder causing mental retardation </li></ul></ul><ul><li>Risk Factors </li></ul><ul><ul><li>maternal age </li></ul></ul><ul><ul><li>Parental carrier of translocation </li></ul></ul><ul><li>Prenatal Testing </li></ul><ul><ul><li>Triple screen (alpha-fetal protein decreased, estriol decreased, beta-HCG increased) </li></ul></ul><ul><ul><li>If positive, amnio or CVS may be indicated </li></ul></ul>
  12. 12. Clinical Presentation <ul><li>Size: small, 20% are premature </li></ul><ul><li>Skull: short and round with a flat occiput, separated sutures </li></ul><ul><li>Eyes: slant upward and outward </li></ul><ul><li>Prominent epicanthal fold </li></ul><ul><li>Moon-shaped face </li></ul><ul><li>Brushfield’s spots </li></ul><ul><li>Cheeks: red </li></ul><ul><li>Palate: narrow and short </li></ul><ul><li>Nose: short with flat bridge </li></ul><ul><li>Tongue: protrudes, tongue thrusting </li></ul><ul><li>Skin loose around lateral and dorsal aspects of neck </li></ul><ul><li>Hands: fingers are short, hands are square, thumbs are low set, separated more than usual from second finger, 5 th finger is short and curves inward, single/bilateral simean crease </li></ul><ul><li>Ears: low-set, posteriorly rotated ears </li></ul>
  13. 13. Clinical Presentation <ul><li>Umbilicus: herniated </li></ul><ul><li>Feet: wide space between great toe and 2 nd toe, deep crease between great toe and the 2 nd toe, flat feet </li></ul><ul><li>Heart: VSD </li></ul><ul><li>Duodenal atresia </li></ul><ul><li>Muscular hypotonia </li></ul><ul><li>Retarded psychomotor development </li></ul><ul><li>Hyperlaxity of ligaments </li></ul><ul><li>Velvety, loose adhering mottled skin in infancy, coarse skin in adolescence </li></ul><ul><li>Mouth frequently open/frequently open mouth </li></ul><ul><li>Visual and/or hearing impairment </li></ul>
  14. 15. Prognosis <ul><li>Congestive heart failure d/t CHD </li></ul><ul><li>Upper respiratory tract infections </li></ul><ul><li>Developmentally delayed </li></ul><ul><li>Mildly to severely mentally retarded: IQ ranges from 25 – 70 </li></ul><ul><li>Increased risk for thyroid problems and leukemia </li></ul>
  15. 16. Trisomy 18 <ul><li>a.k.a. Edward’s Syndrome, Trisomy E, Trisomy 16 – 18 </li></ul><ul><li>Caused by an extra chromosome 18 </li></ul>Normal Karyotype Edward’s Syndrome (47,XY, +18)
  16. 17. Trisomy 18 <ul><li>Incidence </li></ul><ul><ul><li>1 : 6000 – 8000 live births </li></ul></ul><ul><ul><li>F > M (4 : 1) </li></ul></ul><ul><ul><li>Most die in embryonic or fetal life </li></ul></ul><ul><li>Risk factors </li></ul><ul><ul><li>Increased paternal and maternal age </li></ul></ul><ul><li>Prenatal screening </li></ul><ul><ul><li>Good indicator is if in maternal serum during mid trimester have low human chorionic gonadotrophin and low unconjugated estriol </li></ul></ul><ul><ul><li>Ultrasound </li></ul></ul><ul><ul><li>If anomalies seen, amnio or CVS may be indicated </li></ul></ul>
  17. 18. 3 Types of Trisomy 18 <ul><li>Full Form </li></ul><ul><ul><li>Every cell in the body has 3 chromosome 18 instead of 2 </li></ul></ul><ul><ul><li>Severe form </li></ul></ul><ul><li>Mosaic Form </li></ul><ul><ul><li>Some cells have 3 chromosome 18 and others have 2 </li></ul></ul><ul><ul><li>Less severe form </li></ul></ul><ul><li>Partial Form </li></ul><ul><ul><li>In some cells there may be an extra copy of part of chromosome 18 </li></ul></ul><ul><ul><li>Severity dependent on anomalies </li></ul></ul>
  18. 19. Clinical Presentation <ul><li>Prenatal hx: feeble fetal activity, polyhydramnios, small placenta, single umbilical artery </li></ul><ul><li>Post-dates </li></ul><ul><li>SGA </li></ul><ul><li>Weight: low birth weight in term infant </li></ul><ul><li>Weak cry </li></ul><ul><li>Response to sound decreased </li></ul><ul><li>Ears: low set and/or abnormal shape </li></ul><ul><li>Mouth: micrognathia, microstomia, cleft lip, cleft palate </li></ul><ul><li>Mental retardation </li></ul><ul><li>Heart: VSD, PDA, ASD </li></ul><ul><li>Feet: rocker bottom, big toe shortened and dorsiflexed, clubfeet </li></ul><ul><li>Crossed legs </li></ul><ul><li>Diastasis recti </li></ul><ul><li>Pectus carinatum </li></ul><ul><li>GU defects: horseshoe kidneys, hydronephrosis, polycystic kidneys </li></ul>
  19. 20. Clinical Presentation <ul><li>Hands: clenched and with flexed fingers (usually where index finger overlaps 3 rd and 4 th fingers),flexion contraction of the two middle digits, underdeveloped or absent thumb, simian crease, arches on seven or more fingers, nails underdeveloped </li></ul><ul><li>Syndactyly </li></ul><ul><li>Eyes: ptosis of one or both eyelids, epicanthal folds </li></ul><ul><li>Head: abnormally prominent occiput, microcephaly </li></ul><ul><li>Hernias: umbilical, inguinal </li></ul><ul><li>Redundant skin folds esp. over the back of the neck </li></ul><ul><li>Males: cryptorchidism </li></ul>
  20. 22. Prognosis <ul><li>20 – 30% die during the first month </li></ul><ul><li>90% die by age one </li></ul><ul><li>1% chance of surviving to 10 yrs </li></ul><ul><li>High mortality rate is caused by congenital heart malformations, gastrointestinal and genitourinary anomalies, feeding difficulties, and associated central nervous system defects that produce central apnea. </li></ul><ul><li>Although they function with severe handicaps, all older children with Trisomy 18 smile, laugh, interact, relate to their families, and achieve some psychomotor maturation. </li></ul><ul><li>Mosaic cases may show milder phenotypic expression and prolonged survival. </li></ul>
  21. 23. Care Management <ul><li>No treatment beyond supportive care </li></ul><ul><li>NG or GT feedings </li></ul><ul><li>Orthopedic management </li></ul><ul><li>Cardiac management </li></ul><ul><li>Genetic counseling </li></ul><ul><li>Parental support </li></ul><ul><li>Apnea monitoring / O 2 if needed </li></ul>
  22. 24. Trisomy 13 <ul><li>a.k.a. Patau’s Syndrome, 13+ Syndrome, 13 – 15 D Syndrome, Trisomy Syndrome </li></ul><ul><li>Caused by an extra chromosome 13 </li></ul>Normal Karyotype Trisomy 13 (47,XX,+13)
  23. 25. Trisomy 13 <ul><li>Incidence </li></ul><ul><ul><li>1 : 5000 live births </li></ul></ul><ul><ul><li>Male = Female </li></ul></ul><ul><li>Risk Factors </li></ul><ul><ul><li>Increases with maternal and paternal age </li></ul></ul><ul><ul><li>Increases with increased parity </li></ul></ul><ul><ul><li>Parental carrier of balanced translocation </li></ul></ul><ul><li>Prenatal Screening </li></ul><ul><ul><li>Ultrasound </li></ul></ul><ul><ul><li>If anomalies seen, amnio or CVS may be indicated </li></ul></ul>
  24. 26. Clinical Presentation <ul><li>Severe mental and psychomotor retardation </li></ul><ul><li>Ears: malformed, low-set </li></ul><ul><li>Hands: flexion deformities; polydactyly, simian crease, clenched hands </li></ul><ul><li>Heart: VSD, PDA, ASD, rotational anomalies (dextrocardia) </li></ul><ul><li>Eyes: microphthalmos, colobomas of iris, cataracts, retinal dysplasia, close set (may fuse into one) </li></ul><ul><li>Nose: broad and flattened </li></ul><ul><li>Mouth: cleft lip and palate </li></ul><ul><li>Hernias: umbilical hernia, inguinal hernia </li></ul><ul><li>Kidneys: polycystic </li></ul><ul><li>Skin: cutaneous hemangiomas </li></ul><ul><li>Head: dermal sinus on scalp, microcephaly </li></ul><ul><li>Brain: gross defects, grand mal seizures, myoclonic jerks, seizures, holoprosencephaly </li></ul>
  25. 27. Clinical Presentation <ul><li>Skin loose around lateral and dorsal aspects of neck </li></ul><ul><li>Single umbilical artery </li></ul><ul><li>Apnea </li></ul><ul><li>Genitalia </li></ul><ul><ul><li>Female: bicornate/septate uterus </li></ul></ul><ul><ul><li>Male: cryptorchidism </li></ul></ul><ul><li>Mouth: cleft lip, cleft palate </li></ul><ul><li>Spine: meningomyelocele </li></ul><ul><li>Feet: rocker bottom </li></ul><ul><li>Low-birth weight </li></ul><ul><li>Omphalocele </li></ul><ul><li>GI XR or US may reveal abnormal rotation of internal organs </li></ul>
  26. 29. Prognosis <ul><li>82% die within the first month </li></ul><ul><li>5 - 10% survive the first year </li></ul><ul><li>Survival to adulthood rare </li></ul><ul><li>Common disorders if survive beyond 1 month of age </li></ul><ul><ul><li>Severe mental retardation </li></ul></ul><ul><ul><li>Feeding disabilities </li></ul></ul><ul><ul><li>GE reflux </li></ul></ul><ul><ul><li>Slow post natal growth </li></ul></ul><ul><ul><li>Apnea </li></ul></ul><ul><ul><li>Kidney defects </li></ul></ul><ul><ul><li>Seizures </li></ul></ul><ul><ul><li>Developmental disabilities </li></ul></ul><ul><ul><li>Scoliosis </li></ul></ul>
  27. 30. Care Management <ul><li>No treatment beyond supportive care </li></ul><ul><li>Parental support </li></ul>
  28. 31. Turner’s Syndrome <ul><li>a.k.a. TS, Monosomy X, Gonadal Dysgenesis, Bonnevie-Ullrich Syndrome, XO Syndrome </li></ul><ul><li>Is the absence of one set of genes from the short arm of one X chromosome </li></ul>Normal Karyotype Turner’s Syndrome (45,X)
  29. 32. Turner’s Syndrome <ul><li>Incidence </li></ul><ul><ul><li>1 : 2000-3000 live-born females </li></ul></ul><ul><ul><li>Females only affected </li></ul></ul><ul><ul><li>98% of pregnancies with TS spontaneously abort </li></ul></ul><ul><ul><li>10% of pregnancies that spontaneously abort have TS </li></ul></ul><ul><li>Risk Factors </li></ul><ul><ul><li>Increased paternal age </li></ul></ul><ul><ul><li>Mother with mosaic or deletional Turner’s Syndrome </li></ul></ul><ul><li>SHOX gene association </li></ul><ul><ul><li>SHOX gene provides instructions for making a protein that regulates activity of other genes </li></ul></ul>
  30. 33. Clinical Presentation <ul><li>Short stature; mean birth weight 2.9 kg; average height: 4’7” </li></ul><ul><li>Webbed neck </li></ul><ul><li>Low posterior hairline </li></ul><ul><li>Micrognathia </li></ul><ul><li>Ears: low-set, sometimes malformed, prone to otitis media </li></ul><ul><li>Widely spaced hypoplastic nipples on a shield-shaped chest </li></ul><ul><li>Increased carrying angle at the elbow </li></ul><ul><li>Heart: coarctation of the aorta, aortic vavular stenosis, bicuspid aortic valve, aortic dissection </li></ul><ul><li>Eye: ptosis, strabismus, amblyopia, cataracts, epicanthal folds, dry eyes, red-green color blindness </li></ul><ul><li>Congenital hip dislocation </li></ul><ul><li>Abnormal growth patterns </li></ul><ul><li>Congenital lymphedema of hands and feet </li></ul>
  31. 34. Clinical Presentation <ul><li>Absent or retarded development of secondary sexual characteristics that normally appear at puberty </li></ul><ul><li>Absent menstruation </li></ul><ul><li>Absence of normal vaginal moisture </li></ul><ul><li>infertility </li></ul><ul><li>Gonadal dysplasia </li></ul><ul><li>Horseshoe kidney </li></ul><ul><li>Unilateral renal agenesis </li></ul><ul><li>Intelligence: not at risk for mental retardation, better verbal then visuospatial abilities </li></ul><ul><li>Broad nasal bridge </li></ul>
  32. 36. Prognosis <ul><li>Females are basically normal despite failure of sexual development </li></ul><ul><li>At risk for </li></ul><ul><ul><li>Middle ear infections </li></ul></ul><ul><ul><li>Scoliosis </li></ul></ul><ul><ul><li>Arthritis </li></ul></ul><ul><ul><li>Cataracts </li></ul></ul><ul><ul><li>Hashimoto’s thyroiditis </li></ul></ul><ul><ul><li>Kidney abnormalities </li></ul></ul><ul><ul><li>High blood pressure </li></ul></ul><ul><ul><li>Obesity </li></ul></ul><ul><ul><li>Diabetes mellitus </li></ul></ul><ul><ul><li>Osteoporosis </li></ul></ul><ul><ul><li>Keloid formation </li></ul></ul>
  33. 37. Care Management <ul><li>Early </li></ul><ul><ul><li>Supportive care </li></ul></ul><ul><ul><li>Surgery to correct treatable defects </li></ul></ul><ul><li>Late </li></ul><ul><ul><li>Growth hormone therapy </li></ul></ul><ul><ul><li>Estrogen replacement therapy </li></ul></ul><ul><ul><li>Counseling and psychiatric support </li></ul></ul><ul><ul><li>2 – 5% have some ovarian function and can menstruate and become pregnant </li></ul></ul><ul><ul><li>Others can have children using donor eggs and in-vitro fertilization </li></ul></ul>
  34. 38. VATER Association <ul><li>VATER = V ertebral anomalies </li></ul><ul><li> A nal atresia </li></ul><ul><li>T racheo- E sophageal fistula, </li></ul><ul><li>R adial and renal dysplasia </li></ul><ul><li>Incidence </li></ul><ul><ul><li>Unknown </li></ul></ul><ul><li>Etiology </li></ul><ul><ul><li>Unknown </li></ul></ul>
  35. 39. Clinical Presentation <ul><li>Three or more of the following defects must be present: </li></ul><ul><ul><li>Vertebral anomalies </li></ul></ul><ul><ul><li>Anal atresia with or without fistula </li></ul></ul><ul><ul><li>TEF with EA </li></ul></ul><ul><ul><li>Radial dysplasia, including thumb or radial hypoplasia, polydactyly, and syndactyly </li></ul></ul><ul><ul><li>Renal anomaly </li></ul></ul><ul><ul><li>Single umbilical artery </li></ul></ul>
  36. 40. <ul><li>Prognosis </li></ul><ul><ul><li>FTT </li></ul></ul><ul><ul><li>Possibility of normal life after slow mental development during infancy </li></ul></ul><ul><li>Care Management </li></ul><ul><ul><li>Supportive care </li></ul></ul><ul><ul><li>Surgery: surgical correction of anomalies </li></ul></ul>
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