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Objectives:
PRETERM LABOR
regular contractions before 37 weeks AOG associated with cervical
change
PRETERM BIRTH
birth before 37 week AOG or 259 days from the first day of last normal
LMP
EXTREMELY PRETERM: <28 weeks
VERY PRETERM: 28-32 weeks
MODERATE TO LATE PRETERM: 32-37 weeks
Cervical change of at least 2 cms and or with 80% effacement
PRETERM
neonate that has a function expected of a newborn with age of gestation
<37 weeks
Prematurity
most common cause of perinatal and infant mortality
Direct Reasons
Delivery for maternal or fetal indications in which labor is induced or the
infant is delivered by prelabor cesarean delivery
Spontaneous unexplained preterm labor with intact membranes
Idiopathic preterm premature rupture of membranes (PPROM)
Twins and higher-order multifetal births
PPROM
Intra-amnionic infection
Cigarette smoking
Prior preterm birth
Low socioeconomic status
Low body mass indexless than 19.8
Nutritional deciencies
Without risk factors
Multifetal gestations
Spontaneous
Progesterone withdrawal
the fetal-adrenal axis becomes more sensitive to
adrenocorticotropic hormone secretion of cortisol
stimulates placental 17- -hydroxylase activity - progesterone
secretion and estrogen production increased prostaglandin
formation
Oxytocin initiation: increases only in labor
By: Rem Alfelor
Contributing Factors
Threatened Abortion bleeding between 6-13 weeks with loss before 24 weeks
Lifestyle
Cigarette smoking
Inadequate maternal weight gain
Illicit drug use
Psychological factors: depression, anxiety and chronic stress
Genetic factors
Birth defects
Interval of pregnancy
Shorter than 18 months and longer than 59 months were associated with
increased risks for both preterm birth and small-for-gestational age
infants.
Infection
causes 25-40% of preterm birth
release of Interleukins and PGE uterine contractions release of
matrix degrading enzymes PROM
Infection: microorganisms elicit release of ILK and TNF stimulate prod of PGE
uterine contractions stimulate release of matrix degrading enzymes PROM
Bacterial Vaginosis
associated with spontaneous abortion, preterm labor, preterm rupture of
membranes, chorioamnionitis, and amnionic fluid infection
Caused by chronic stress, ethnic differences, and frequent or recent
douching
However, no current evidence supports screening and treating for
bacterial vaginosis
Normal, hydrogen peroxide-producing, lactobacillus-pre- dominant vaginal ora is
replaced with anaerobes that include Gardnerella vaginalis, Mobiluncus species,
and Mycoplasma hominis 25
Diagnosis
Uterine activity
regular frequent contractions that may result to cervical dilation and
effacement
Considered inaccurate predictors and only 10% actually go into labor within 7 days
Cervical evaluation
Digital: subjective
Ultrasound
Superior to clinical assessment and more reliable
Clinically predictive of preterm birth
Ultrasonography
Transabdominal
Transperineal
Transvaginal
reliable and reproducible
cervical length of 2.5 mm
sensitivity 76%
specificity 68%
PPV 20%
NPV 96%
Cervical evaluation digital subjective and differs between examiners and by TVS
Cervical length constant throughout pregnancy
Cervical length shortening is faster for patients with history of preterm birth so a
repeat evaluation may be useful
Biochemical markers- fetal fibronectin
Fetal Fibronectin
an extracellular matrix protein expressed during pregnancy located at
choriodecidual junction, uterus and placenta
50 ng/L detected in cervicovaginal fluid at 24-35 weeks AOG
associated with increased risk of preterm delivery
POGS: no evidence to support or refute its use
Physical Examination
Speculum examination: pooling of fluid in posterior vaginal fornix
Ancillary Tests
Ultrasound: AFI, presenting part, Gestational age
pH testing: AF is alkaline (pH 7.1-7.3)
PPROM Risks (mother)
Antepartum
Infection
oligohydramnios
Preterm birth
Abruptio placenta
Psychosocial sequelae
Intrapartum
Increased cesarean delivery
Increased morbidity
Postpartum
Endometritis
Retained Placenta
By: Rem Alfelor
Postpartum hemorrhage
Psychological and Lactation problems
Prematurity
Infection
Cord compression
Fetal distress
Necrotizing enterocolitis
Intraventricular hemorrhage
Confirmation of PPROM
Ultrasonography
Antibiotics
IV for 48 hours
Ampicillin 2 g q6 hours and
Erythromycin 250 mg q 6 hours
Oral (after IV)
Amoxicillin 250 mg 8 hours
Erythromycin 333 mg q 8 hours
Oral to complete 7 days in patients with PPROM being managed
expectantly
Tocolytics
Not used routinely
only when clear benefits exist : transport to a tertiary hospital with a NICU;
to complete corticosteroid
Nifedipine And Atosiban: comparable effectiveness
Nifedipine
Fetal monitoring
Daily until delivery
Fetal well-being and growth
TERM
Delivery usually by induction
Group B streptococcal prophylaxis recommended
Pen G
5 mU IVLD then 2.6 mU q4 until delivery
Ampicillin
2 g IV initial dose, then 1 g q 4 until delivery
Prevention
Genetics
Natividad F. Generalao-Ko, M.D. FPOGS, FPSUOG
By definition genetics is the study of genes, heredity, and the variation of inherited
characteristics
These principles form the basis for screening, diagnosis, and management of
genetic disorders.
GENOMICS: study of how genes function and interact
GENES
Genetic Disorder
Many conditions are unique to the mother while others are passed on from the
father.
Certain disorders are also more prevalent among different sexes and races.
1989 Human genome mapping project was started.
3-5% of all newborns have a recognizable birth defect and the causes are myriad and
frequently not identifiable.
Anomalies are increased in:
Spontaneous abortion
Preterm
Stillborn infants
By: Rem Alfelor
Called the autosomes which are involved in the development and physiology
that do not involve sex determination.
2: sex chromosomes X & Y
Identified SHOX GENE that is missing which is important for bone development
and growth resulting in short stature and skeletal abnormalities.
Normal height in their 1st year of life then will have slow growth rate
Heart murmur associated with narrowing of the aorta high blood pressure.
Scoliosis
X-chromosomal monosomy
Source of cells for procedures & diagnosis:
1.
Peripheral blood
2.
Amniotic fluid
3.
Chorionic villi
4.
Bone marrow
5.
Skin
6.
Internal organs
Page 3 of 8
Staining Technique:
1)
Giemsa or G-banding: most common.
2)
C-banding: is useful for staining material near the centromeres
3)
NOR: banding use for staining satellites and stalks of acrocentric chromosomes
Each chromosome has its individual pattern corresponding to the dark and light
bands produced by staining.
The level of banding achieved is a measure of how well the chromosomes are
spread out and what regions can be identified.
Each chromosome has its individual pattern corresponding to the dark and light bands
produced by staining.
Chromosome number
Arm
Band
Sub band
New technique that allows for the rapid identification of additional (trisomies) or
missing (deletions) chromosomal material.
Reciprocal Translocation
Trisomy 21
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POLYDACTYLY
IMPERFORATE ANUS
Clinical Features
Head and neck
Brachycephaly
Up-slanting palpebral fissures
Epicanthal folds
Brushfield spots
Flat nasal bridge
Folded or dysplastic ears
Open mouth
Protruding tongue
Short neck
Excessive skin at the nape of neck
Most common disorders are
Refractory error 35 to 76 percent
Strabismus 25 to 57 percent
Nystagmus 18 to 22 percent
Cataract occurs in 5 % of newborns.
Frequency increases with age
EYE PROBLEMS
(POSAXIAL)
Chromosomes: <46
Midline defect
Postaxial polydactyly
Equinovarus deformity
Syndactyly or polydactyly
Incidence 1:12000
SYNDACTYLY/ POLYDACTYLY
ROCKER BOTTOM FEET
Major malformations
1% general population
Functional significance
ENCEPHALOCELE
MENINGOYELOCELE
TRISOMY 18 (EDWARD)
Hypertonicity clenched fists and crossed legs, prominent occiput, 5th fingernail
hypoplasia, dorsiflexed short hallux
ECTRODACTYLY
(LOBSTER-CLAW DEFORMITY)
BILATERAL CLUBFOOT
HYPOSPADIAS
Page 5 of 8
TRISOMY 21
Incidence 1:600-800
Associated defects
Mental retardation
Leukemia
Hearing loss, otitis media
Hirschsprung disease, duodenal atresia
Cataracts
Thyroid disease
Hip dislocation
Atlantoaxial instability/dislocation
TURNER: XO
Incidence 1:10000
females
Estrogen replacement
therapy
KLINEFELTER: XXY
Incidence 1:1000
Gynecomastia
Microorchidism
Sterility/azoospermia
Gynecomastia
Normal-borderline IQ
Lack of libido
Anal atresia
WOLF HIRSCHHORN (Del 4p)
Hypotonia, seizures,
developmental delay
hypospadias
ASD
Detectable by FISH
Slow growth
Cat-like cry
Hypotonia, low IQ
Microcephaly
Hypertelorism
Cardiac
Abnormal facies
Thymic Hypoplasia
Cleft palate
Hypocalcemia
Mild microcephaly
Cleft palate
Speech delay
Emotional liability
WILLIAMS (7q11.23)
Short stature
Elfin-facies
Hypercalcemia
Developmental delay
Page 6 of 8
MILLER-DIEKER (17p13)
Lissencephaly (smooth brain)
Severe cognitive, developmental
delay and seizures
TUBEROUS SCLEROSIS
Autosomal dominant
Seizures/MR/Adenoma
Sebaceum
Seizures in early
infancy correlate with
later MR
CV: Rhabdomyomas
Retinal Hamartomas
Incidence 1:20,000
Abnormality in cholesterol
biosynthesis due to single gene mutation: sterol delta-7 reductase gene
Autosomal recessive
Anteverted nostrils
Low-set ears
Small chin
Clenched hand
Failure to thrive
Low IQ
ACHONDROPLASIA (4p16.3)
Autosomal dominant
Short-limb dwarfism
Lumbar lordosis
Normal intelligence
MARFAN (15q21)
Disproportionate growth
Joint hyperextensibility
Lens dislocation
RUBENSTEIN-TAYBI (16p13)
Growth failure
and toes)
Clubbing due to associated cardiopulmonary
problems
Flattening of the arch of his foot
Severe pectus carinatum
Significant kyphosis and joint contractures
Long arms
Marked hyperextensibility of the skin
Widened atrophic scars have thin papery
texture
Hyperextensibility of the joints of the elbow and
fingers
Autosomal dominant
Autosomal dominant
Hyperelasticity
Hyperflexible, hypermobile joints
NEUROFIBROMATOSIS I (17q11)
2 or more Neurofibromas
B
C
Incidence of 1:4000
Autosomal dominant
A
D
FRAGILE X SYNDROME
1:4000 males
Page 7 of 8
Uniparental Disomy
ANGELMAN
Seizures
Abnormal facies
Maxillary hypoplasia
Large mouth
Prognathism
PRADER-WILLI
Low tone
Large appetiteobesity
Hypogonadism
Developmental delay/MR
Marked obesity
Autosomal dominant
Short stature
Congenital heart
disease
Webbed neck
Down slanting
palpebral fissures
One form of Noonan syndrome, that which maps to 12q24.1, is due to mutations in PTPN11
(176876), a gene encoding the nonreceptor protein tyrosine phosphatase SHP2, which
contains 2 Src homology-2 (SH2) domains
Sporadically occurring
Synophrys
GOLDENHAR (14q32)
Vertebroauriculofacial Syndrome
Hemifacial microsomia
KABUKI
Developmental delay
Hearing loss
Unknown cause
Surgical treatment
CHARGE
Incidence 1:10,000
Coloboma
Heart
choanal Atresia
Retardation
Genital hypoplasia
Ear abnormalities,
deafness
Preaxial polydactyly of the thumb (which was associated with radial dysplasia)
VACTERL
Vertebral defects
imperforate Anus
TracheoEsophageal fistula
Renal anomalies
Mild ptosis
Mild ptosis
Page 8 of 8