Brought to you by : http://1nurses.com

Disclaimer All information and pictures presented in this slideshow were meant for EDUCATIONAL purposes only. 1Nurses.com 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. 1Nurses.com 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.

All information and pictures presented in this slideshow were meant for EDUCATIONAL purposes only. 1Nurses.com 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. 1Nurses.com 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.

Definitions Gene: smallest unit of a single characteristic Chromosome: structural elements in the cell nucleus that carry the genes and convey genetic information Each cell (except RBO) contain all of the chromosomes from both parents in the nucleus 23 pairs of chromosomes come from each parent Autosome: one of the 22 pairs of chromosomes that is not responsible for determining the sex of the child Sex Chromosome: X and Y chromosomes responsible for sex determination

Gene: smallest unit of a single characteristic

Chromosome: structural elements in the cell nucleus that carry the genes and convey genetic information

Each cell (except RBO) contain all of the chromosomes from both parents in the nucleus

23 pairs of chromosomes come from each parent

Autosome: one of the 22 pairs of chromosomes that is not responsible for determining the sex of the child

Sex Chromosome: X and Y chromosomes responsible for sex determination

Chromosomal Defects Abnormal Number Monosomy: one less than the diploid number (45) Trisomy: one more than the diploid number (47) Mosaicism: some cells have the correct number of chromosomes and some have more or less than the correct number of chromosomes Abnormal Structure Deletion: loss of a chromosomal segment Translocation: the occurrence of a chromosomal segment at an abnormal site either on another chromosome or in the wrong position on the same chromosome

Abnormal Number

Monosomy: one less than the diploid number (45)

Trisomy: one more than the diploid number (47)

Mosaicism: some cells have the correct number of chromosomes and some have more or less than the correct number of chromosomes

Abnormal Structure

Deletion: loss of a chromosomal segment

Translocation: the occurrence of a chromosomal segment at an abnormal site either on another chromosome or in the wrong position on the same chromosome

Prenatal Diagnosis Maternal Serum Alpha-fetoprotein (MSAFP) Done at 16 – 18 wks gestation High MSAFP: incorrect dates; multiple gestation; neural tube defects, abdominal wall defects; renal anomalies; esophageal or intestinal obstructions Low MSAFP: incorrect dates; chromosomal defect (esp. Trisomy 21) Ultrasound

Maternal Serum Alpha-fetoprotein (MSAFP)

Done at 16 – 18 wks gestation

High MSAFP: incorrect dates; multiple gestation; neural tube defects, abdominal wall defects; renal anomalies; esophageal or intestinal obstructions

Low MSAFP: incorrect dates; chromosomal defect (esp. Trisomy 21)

Ultrasound

Amniocentesis Usually done at 16 – 18 wks gestation Fluid analysis may require up to 2-3 wks Can usually determine: fetal sex, metabolic disorders, chromosomal abnormalities Chorionic Villus Sampling (CVS) Usually done at 8 – 10 wks gestation Fetal cell analysis usually takes 24 – 48 hours

Amniocentesis

Usually done at 16 – 18 wks gestation

Fluid analysis may require up to 2-3 wks

Can usually determine: fetal sex, metabolic disorders, chromosomal abnormalities

Chorionic Villus Sampling (CVS)

Usually done at 8 – 10 wks gestation

Fetal cell analysis usually takes 24 – 48 hours

Newborn Care History Family History: any similar relatives, frequency of spontaneous abortions Prenatal History: fetal activity, maternal exposures, uterine malformations

History

Family History: any similar relatives, frequency of spontaneous abortions

Prenatal History: fetal activity, maternal exposures, uterine malformations

Newborn Assessment Face: configuration, spacing of feature, location of features Head: size and shape of skull, fontanel Eyes: structure, location, color of iris Ears: low set or correct location, skin tags Nose: number of nares, location, flattened bridge Oral: size and shape of tongue, mouth, jaw Neck: webbing, extra folds Hands & Feet: broad, square, polydactyly, abnormal creasures, contractures, overriding fingers or toes

Face: configuration, spacing of feature, location of features

Head: size and shape of skull, fontanel

Eyes: structure, location, color of iris

Ears: low set or correct location, skin tags

Nose: number of nares, location, flattened bridge

Oral: size and shape of tongue, mouth, jaw

Neck: webbing, extra folds

Hands & Feet: broad, square, polydactyly, abnormal creasures, contractures, overriding fingers or toes

Family Support Crisis Grief – loss of “perfect child” Genetic counseling Identify the normal

Crisis

Grief – loss of “perfect child”

Genetic counseling

Identify the normal

Trisomy 21 a.k.a. Down’s Syndrome Caused by an extra chromosome 21 Normal Karyotype Trisomy 21 ( 47,XY,+21)

a.k.a. Down’s Syndrome

Caused by an extra chromosome 21

Trisomy 21 Incidence 1 : 650 – 1000 live births, parental age related 75 % abort spontaneously Sex ratio: 3 males / 2 females Most common autosomal chromosomal disorder causing mental retardation Risk Factors maternal age Parental carrier of translocation Prenatal Testing Triple screen (alpha-fetal protein decreased, estriol decreased, beta-HCG increased) If positive, amnio or CVS may be indicated

Incidence

1 : 650 – 1000 live births, parental age related

75 % abort spontaneously

Sex ratio: 3 males / 2 females

Most common autosomal chromosomal disorder causing mental retardation

Risk Factors

maternal age

Parental carrier of translocation

Prenatal Testing

Triple screen (alpha-fetal protein decreased, estriol decreased, beta-HCG increased)

If positive, amnio or CVS may be indicated

Clinical Presentation Size: small, 20% are premature Skull: short and round with a flat occiput, separated sutures Eyes: slant upward and outward Prominent epicanthal fold Moon-shaped face Brushfield’s spots Cheeks: red Palate: narrow and short Nose: short with flat bridge Tongue: protrudes, tongue thrusting Skin loose around lateral and dorsal aspects of neck 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 Ears: low-set, posteriorly rotated ears

Size: small, 20% are premature

Skull: short and round with a flat occiput, separated sutures

Eyes: slant upward and outward

Prominent epicanthal fold

Moon-shaped face

Brushfield’s spots

Cheeks: red

Palate: narrow and short

Nose: short with flat bridge

Tongue: protrudes, tongue thrusting

Skin loose around lateral and dorsal aspects of neck

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

Ears: low-set, posteriorly rotated ears

Clinical Presentation Umbilicus: herniated Feet: wide space between great toe and 2 nd toe, deep crease between great toe and the 2 nd toe, flat feet Heart: VSD Duodenal atresia Muscular hypotonia Retarded psychomotor development Hyperlaxity of ligaments Velvety, loose adhering mottled skin in infancy, coarse skin in adolescence Mouth frequently open/frequently open mouth Visual and/or hearing impairment

Umbilicus: herniated

Feet: wide space between great toe and 2 nd toe, deep crease between great toe and the 2 nd toe, flat feet

Heart: VSD

Duodenal atresia

Muscular hypotonia

Retarded psychomotor development

Hyperlaxity of ligaments

Velvety, loose adhering mottled skin in infancy, coarse skin in adolescence

Mouth frequently open/frequently open mouth

Visual and/or hearing impairment

Prognosis Congestive heart failure d/t CHD Upper respiratory tract infections Developmentally delayed Mildly to severely mentally retarded: IQ ranges from 25 – 70 Increased risk for thyroid problems and leukemia

Congestive heart failure d/t CHD

Upper respiratory tract infections

Developmentally delayed

Mildly to severely mentally retarded: IQ ranges from 25 – 70

Increased risk for thyroid problems and leukemia

Trisomy 18 a.k.a. Edward’s Syndrome, Trisomy E, Trisomy 16 – 18 Caused by an extra chromosome 18 Normal Karyotype Edward’s Syndrome (47,XY, +18)

a.k.a. Edward’s Syndrome, Trisomy E, Trisomy 16 – 18

Caused by an extra chromosome 18

Trisomy 18 Incidence 1 : 6000 – 8000 live births F > M (4 : 1) Most die in embryonic or fetal life Risk factors Increased paternal and maternal age Prenatal screening Good indicator is if in maternal serum during mid trimester have low human chorionic gonadotrophin and low unconjugated estriol Ultrasound If anomalies seen, amnio or CVS may be indicated

Incidence

1 : 6000 – 8000 live births

F > M (4 : 1)

Most die in embryonic or fetal life

Risk factors

Increased paternal and maternal age

Prenatal screening

Good indicator is if in maternal serum during mid trimester have low human chorionic gonadotrophin and low unconjugated estriol

Ultrasound

If anomalies seen, amnio or CVS may be indicated

3 Types of Trisomy 18 Full Form Every cell in the body has 3 chromosome 18 instead of 2 Severe form Mosaic Form Some cells have 3 chromosome 18 and others have 2 Less severe form Partial Form In some cells there may be an extra copy of part of chromosome 18 Severity dependent on anomalies

Full Form

Every cell in the body has 3 chromosome 18 instead of 2

Severe form

Mosaic Form

Some cells have 3 chromosome 18 and others have 2

Less severe form

Partial Form

In some cells there may be an extra copy of part of chromosome 18

Severity dependent on anomalies

Clinical Presentation Prenatal hx: feeble fetal activity, polyhydramnios, small placenta, single umbilical artery Post-dates SGA Weight: low birth weight in term infant Weak cry Response to sound decreased Ears: low set and/or abnormal shape Mouth: micrognathia, microstomia, cleft lip, cleft palate Mental retardation Heart: VSD, PDA, ASD Feet: rocker bottom, big toe shortened and dorsiflexed, clubfeet Crossed legs Diastasis recti Pectus carinatum GU defects: horseshoe kidneys, hydronephrosis, polycystic kidneys

Prenatal hx: feeble fetal activity, polyhydramnios, small placenta, single umbilical artery

Post-dates

SGA

Weight: low birth weight in term infant

Weak cry

Response to sound decreased

Ears: low set and/or abnormal shape

Mouth: micrognathia, microstomia, cleft lip, cleft palate

Mental retardation

Heart: VSD, PDA, ASD

Feet: rocker bottom, big toe shortened and dorsiflexed, clubfeet

Crossed legs

Diastasis recti

Pectus carinatum

GU defects: horseshoe kidneys, hydronephrosis, polycystic kidneys

Clinical Presentation 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 Syndactyly Eyes: ptosis of one or both eyelids, epicanthal folds Head: abnormally prominent occiput, microcephaly Hernias: umbilical, inguinal Redundant skin folds esp. over the back of the neck Males: cryptorchidism

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

Syndactyly

Eyes: ptosis of one or both eyelids, epicanthal folds

Head: abnormally prominent occiput, microcephaly

Hernias: umbilical, inguinal

Redundant skin folds esp. over the back of the neck

Males: cryptorchidism

Prognosis 20 – 30% die during the first month 90% die by age one 1% chance of surviving to 10 yrs 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. Although they function with severe handicaps, all older children with Trisomy 18 smile, laugh, interact, relate to their families, and achieve some psychomotor maturation. Mosaic cases may show milder phenotypic expression and prolonged survival.

20 – 30% die during the first month

90% die by age one

1% chance of surviving to 10 yrs

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.

Although they function with severe handicaps, all older children with Trisomy 18 smile, laugh, interact, relate to their families, and achieve some psychomotor maturation.

Mosaic cases may show milder phenotypic expression and prolonged survival.

Care Management No treatment beyond supportive care NG or GT feedings Orthopedic management Cardiac management Genetic counseling Parental support Apnea monitoring / O 2 if needed

No treatment beyond supportive care

NG or GT feedings

Orthopedic management

Cardiac management

Genetic counseling

Parental support

Apnea monitoring / O 2 if needed

Trisomy 13 a.k.a. Patau’s Syndrome, 13+ Syndrome, 13 – 15 D Syndrome, Trisomy Syndrome Caused by an extra chromosome 13 Normal Karyotype Trisomy 13 (47,XX,+13)

a.k.a. Patau’s Syndrome, 13+ Syndrome, 13 – 15 D Syndrome, Trisomy Syndrome

Caused by an extra chromosome 13

Trisomy 13 Incidence 1 : 5000 live births Male = Female Risk Factors Increases with maternal and paternal age Increases with increased parity Parental carrier of balanced translocation Prenatal Screening Ultrasound If anomalies seen, amnio or CVS may be indicated

Incidence

1 : 5000 live births

Male = Female

Risk Factors

Increases with maternal and paternal age

Increases with increased parity

Parental carrier of balanced translocation

Prenatal Screening

Ultrasound

If anomalies seen, amnio or CVS may be indicated

Clinical Presentation Severe mental and psychomotor retardation Ears: malformed, low-set Hands: flexion deformities; polydactyly, simian crease, clenched hands Heart: VSD, PDA, ASD, rotational anomalies (dextrocardia) Eyes: microphthalmos, colobomas of iris, cataracts, retinal dysplasia, close set (may fuse into one) Nose: broad and flattened Mouth: cleft lip and palate Hernias: umbilical hernia, inguinal hernia Kidneys: polycystic Skin: cutaneous hemangiomas Head: dermal sinus on scalp, microcephaly Brain: gross defects, grand mal seizures, myoclonic jerks, seizures, holoprosencephaly

Severe mental and psychomotor retardation

Ears: malformed, low-set

Hands: flexion deformities; polydactyly, simian crease, clenched hands

Heart: VSD, PDA, ASD, rotational anomalies (dextrocardia)

Eyes: microphthalmos, colobomas of iris, cataracts, retinal dysplasia, close set (may fuse into one)

Nose: broad and flattened

Mouth: cleft lip and palate

Hernias: umbilical hernia, inguinal hernia

Kidneys: polycystic

Skin: cutaneous hemangiomas

Head: dermal sinus on scalp, microcephaly

Brain: gross defects, grand mal seizures, myoclonic jerks, seizures, holoprosencephaly

Clinical Presentation Skin loose around lateral and dorsal aspects of neck Single umbilical artery Apnea Genitalia Female: bicornate/septate uterus Male: cryptorchidism Mouth: cleft lip, cleft palate Spine: meningomyelocele Feet: rocker bottom Low-birth weight Omphalocele GI XR or US may reveal abnormal rotation of internal organs

Skin loose around lateral and dorsal aspects of neck

Single umbilical artery

Apnea

Genitalia

Female: bicornate/septate uterus

Male: cryptorchidism

Mouth: cleft lip, cleft palate

Spine: meningomyelocele

Feet: rocker bottom

Low-birth weight

Omphalocele

GI XR or US may reveal abnormal rotation of internal organs

Prognosis 82% die within the first month 5 - 10% survive the first year Survival to adulthood rare Common disorders if survive beyond 1 month of age Severe mental retardation Feeding disabilities GE reflux Slow post natal growth Apnea Kidney defects Seizures Developmental disabilities Scoliosis

82% die within the first month

5 - 10% survive the first year

Survival to adulthood rare

Common disorders if survive beyond 1 month of age

Severe mental retardation

Feeding disabilities

GE reflux

Slow post natal growth

Apnea

Kidney defects

Seizures

Developmental disabilities

Scoliosis

Care Management No treatment beyond supportive care Parental support

No treatment beyond supportive care

Parental support

Turner’s Syndrome a.k.a. TS, Monosomy X, Gonadal Dysgenesis, Bonnevie-Ullrich Syndrome, XO Syndrome Is the absence of one set of genes from the short arm of one X chromosome Normal Karyotype Turner’s Syndrome (45,X)

a.k.a. TS, Monosomy X, Gonadal Dysgenesis, Bonnevie-Ullrich Syndrome, XO Syndrome

Is the absence of one set of genes from the short arm of one X chromosome

Turner’s Syndrome Incidence 1 : 2000-3000 live-born females Females only affected 98% of pregnancies with TS spontaneously abort 10% of pregnancies that spontaneously abort have TS Risk Factors Increased paternal age Mother with mosaic or deletional Turner’s Syndrome SHOX gene association SHOX gene provides instructions for making a protein that regulates activity of other genes

Incidence

1 : 2000-3000 live-born females

Females only affected

98% of pregnancies with TS spontaneously abort

10% of pregnancies that spontaneously abort have TS

Risk Factors

Increased paternal age

Mother with mosaic or deletional Turner’s Syndrome

SHOX gene association

SHOX gene provides instructions for making a protein that regulates activity of other genes

Clinical Presentation Short stature; mean birth weight 2.9 kg; average height: 4’7” Webbed neck Low posterior hairline Micrognathia Ears: low-set, sometimes malformed, prone to otitis media Widely spaced hypoplastic nipples on a shield-shaped chest Increased carrying angle at the elbow Heart: coarctation of the aorta, aortic vavular stenosis, bicuspid aortic valve, aortic dissection Eye: ptosis, strabismus, amblyopia, cataracts, epicanthal folds, dry eyes, red-green color blindness Congenital hip dislocation Abnormal growth patterns Congenital lymphedema of hands and feet

Short stature; mean birth weight 2.9 kg; average height: 4’7”

Webbed neck

Low posterior hairline

Micrognathia

Ears: low-set, sometimes malformed, prone to otitis media

Widely spaced hypoplastic nipples on a shield-shaped chest

Increased carrying angle at the elbow

Heart: coarctation of the aorta, aortic vavular stenosis, bicuspid aortic valve, aortic dissection

Eye: ptosis, strabismus, amblyopia, cataracts, epicanthal folds, dry eyes, red-green color blindness

Congenital hip dislocation

Abnormal growth patterns

Congenital lymphedema of hands and feet

Clinical Presentation Absent or retarded development of secondary sexual characteristics that normally appear at puberty Absent menstruation Absence of normal vaginal moisture infertility Gonadal dysplasia Horseshoe kidney Unilateral renal agenesis Intelligence: not at risk for mental retardation, better verbal then visuospatial abilities Broad nasal bridge

Absent or retarded development of secondary sexual characteristics that normally appear at puberty

Absent menstruation

Absence of normal vaginal moisture

infertility

Gonadal dysplasia

Horseshoe kidney

Unilateral renal agenesis

Intelligence: not at risk for mental retardation, better verbal then visuospatial abilities

Broad nasal bridge

Prognosis Females are basically normal despite failure of sexual development At risk for Middle ear infections Scoliosis Arthritis Cataracts Hashimoto’s thyroiditis Kidney abnormalities High blood pressure Obesity Diabetes mellitus Osteoporosis Keloid formation

Females are basically normal despite failure of sexual development

At risk for

Middle ear infections

Scoliosis

Arthritis

Cataracts

Hashimoto’s thyroiditis

Kidney abnormalities

High blood pressure

Obesity

Diabetes mellitus

Osteoporosis

Keloid formation

Care Management Early Supportive care Surgery to correct treatable defects Late Growth hormone therapy Estrogen replacement therapy Counseling and psychiatric support 2 – 5% have some ovarian function and can menstruate and become pregnant Others can have children using donor eggs and in-vitro fertilization

Early

Supportive care

Surgery to correct treatable defects

Late

Growth hormone therapy

Estrogen replacement therapy

Counseling and psychiatric support

2 – 5% have some ovarian function and can menstruate and become pregnant

Others can have children using donor eggs and in-vitro fertilization

VATER Association VATER = V ertebral anomalies A nal atresia T racheo- E sophageal fistula, R adial and renal dysplasia Incidence Unknown Etiology Unknown

VATER = V ertebral anomalies

A nal atresia

T racheo- E sophageal fistula,

R adial and renal dysplasia

Incidence

Unknown

Etiology

Unknown

Clinical Presentation Three or more of the following defects must be present: Vertebral anomalies Anal atresia with or without fistula TEF with EA Radial dysplasia, including thumb or radial hypoplasia, polydactyly, and syndactyly Renal anomaly Single umbilical artery

Three or more of the following defects must be present:

Vertebral anomalies

Anal atresia with or without fistula

TEF with EA

Radial dysplasia, including thumb or radial hypoplasia, polydactyly, and syndactyly

Renal anomaly

Single umbilical artery

Prognosis FTT Possibility of normal life after slow mental development during infancy Care Management Supportive care Surgery: surgical correction of anomalies

Prognosis

FTT

Possibility of normal life after slow mental development during infancy

Care Management

Supportive care

Surgery: surgical correction of anomalies

Get More Free Nursing Lectures,Nursing Care Plans, & Nursing Resources @ http://1nurses.com