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OB Final Exam > OB > Flashcards

OB Flashcards

1
Q

What are prenatal diagnostic tests that are available?

A
  1. Amniocentesis
  2. Cordocentesis
  3. Chronic Villi Sampling
  4. Ultrasound
  5. Fetoscopy
  6. Amniography
  7. Radiography
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2
Q

Different Amniocentesis procedures include?

A
  1. Chromosomal Analysis (Karyotyping)
  2. Bilirubin Level Determination (In fetal hemolytic
    disease)
  3. AFP determination in cases of elevated maternal
    serum AFP
  4. Evaluation of fetal lung maturity (LS ratio)
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3
Q

Chronic Villi Sampling Procedures?

A
  1. Chromosmal Analysis

2. Biochemical Disorders

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4
Q

Ultrasound Determinations?

A
  1. Wide variety of structural malformations

2. Guidance of other procedures

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5
Q

Fetoscopy Procedures?

A
  1. Detects hemoglobinopathies/ other disorders via fetal
    blood
  2. Directly views fetus
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6
Q

Radiography Procedures?

A
  • Limited to evaluation of fetal skeletal abnormalities RARELY
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7
Q

Amniography Procedures?

A
  1. Detection of gross external fetal malformations
  2. Determination of genitourinary tract disorders
  3. Determination of gastrointestinal tract disorders
    (will swallow contrast in amniotic fluid)
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8
Q

Exam timing for amniocentesis, CVS, and ultrasound?

A
  • Amniocentesis: depends upon the procedure needed and the reason for performing
  • CVS: 1st trimester
  • Ultrasound: can be performed throughout entire pregnancy, dependant upon reason for performing
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9
Q

Who are “high risk” patients for these examinations?

A
  1. Maternal age 35 years old
    (Most common, associated with ^ risk of chromosome anomalies)
  2. Previous child with a chromosomal abnormality or positive family history
    (Recurrence varies with each anomaly)
  3. Mother is a known carrier for an X linked disorder
    (This means the abnormal gene is located on the X chromosome, only MALE offspring are affected, passed from mother to son)
  4. Parent carries to an autosomal recessive disorder that can be diagnosed in utero
    (25% recurrence rate if previous child has it)
  5. Positive family history for NTD
    (NTD can be inherited as multifactorial disorders)
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10
Q

Potential benefits to mother for detecting?

A
  1. Termination
  2. Prenatal Therapy
  3. Aiding the obstetrician
  4. Referral of mother before delivery to centers where neonatology and pediatric services are available
  5. Prevention of unwarranted life-saving methods on a “unsalvageable” fetus
  6. Allowing families to make appropriate psychological and social adjustments for birth of an abnormal child
  7. Relief of anxiety in patients known to be at risk
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11
Q

What is the amniocentesis procedure?

A

Thin spinal needle is inserted thru maternal abdominal wall with direct real-time U/S guidance. The needle punctures the amnion to enter the amniotic cavity
**Success rate is generally high with low risk

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12
Q

Exam timing for amniocentesis?

A
  1. 16-17 weeks (Genetic Amniocentesis)
  2. 23-24 weeks (DX of Fetal Hemolytic Disease)
  3. 3rd trimester (Assessment of Fetal Maturity)
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13
Q

Complications of amniocentesis?

A
  • Abortion
  • Premature Labor
  • Chorioamnionitis
  • Transitory episodes of abdominal pain
  • Rectus sheath hematoma
  • Placental hemorrhage
  • Umbilical cord hemorrhage
  • Fetal injuries
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14
Q

Reasons for ultrasound assessment?

A
  • Confirm IUP
  • Presence of pathology
  • Presence of multiple gestations
  • Determination of gestational age
  • Detection of congenital anomalies
  • Placental localization
  • Estimation of amniotic fluid volume
  • Determination of most appropriate site for amniocentesis
  • Determination for depth and angle of entry for needle puncture
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15
Q

Considerations for puncture?

A
  • Placenta should be avoided
  • Stay away from fetal head, whenever possible
  • Attempt to puncture close to uterine ML to avoid vessels
  • Fewer punctures assures less risk
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16
Q

Types of Amniocentesis?

A

Genetic and Spectrophotometric

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17
Q

What is genetic amniocentesis?

A

Done 16-17 weeks

Reasons: adequate amount of amniotic fluid and viable cell content is sufficient for culture

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18
Q

Process for genetic amniocentesis?

A
  • Desquamated cells are present in amniotic fluid
  • Fetal cells culture in approx. 3 weeks
  • Harvested cells are examined
  • Photographs are taken of chromosomes
  • Chromosomes are matched from enlarged photos
  • This is called KARYOTYPING
  • Diagnosis is made of sex and abnormalities
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19
Q

Results of genetic amniocentesis?

A

90% are normal
6% are abnormal
*Normal does not mean baby will be free of malformations, because many problems cannot be detected

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20
Q

What is spectrophotometric analysis?

A

Assesses amniotic fluid bilirubin

  • Begins 23-24 weeks
  • Reasons: determines severity of fetal hemolytic DZ and provides an indication of fetal maturity
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21
Q

In a normal fetus, the amniotic fluid bilirubin concentration does what?

A

Decreases along a normal curve and virtually disappears by 36-38 weeks. Bilirubin levels are ELEVATED in a sensitized fetus

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22
Q

What is amniocentesis for fetal maturity?

A

Different cells can be assessed, but the L/S RATIO is considered to be the most important
*3rd trimester

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23
Q

What is L/S mean?

A

Lecithin/Sphingomyelin

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24
Q

Certain cells from the fetal ling alveoli produce what?

A

Surface-active phospholipids to reduce the surface tension of the aveoli, so they dont collapse on expiration

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25
Q

Premature infants do not have the ability to produce these surfactants, so they will develop?

A

Respiratory Distress Syndrome

Secondary to Hyaline Membrane Disease

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26
Q

L/S Ratios greater than what indicate fetal lung maturity?

A

> 2

Ratios of 1 indicates immaturity

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27
Q

What is chorionic villus sampling?

A

Real-time guided biopsy for prenatal diagnosis of fetal disorders in the 1st trimester

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28
Q

Timing of CVS?

A

Approximately 11 weeks, definately >8 weeks for compression of chorion laeve and only villi in area of chorion frondosum and visualization

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29
Q

Process of CVS?

A
  • Transcervical catheter into uterus or transabdominal puncture into uterine wall
  • Catheter is advanced to chorion frondosum under ultrasound guidance
  • A plastic syringe applies suction to obtain a small amount of villous tissue
    (TransCervical for posterior chorion frondosum and Transabdominal for anterior or fundal chorion frond)
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30
Q

Advantages of CVS?

A
  • Earlier determination of abnormalities (for termination)

- Results within days, rather than weeks

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31
Q

Disadvantages of CVS?

A
  • If unsuccessful, amniocentesis must be performed
    (Fibroids most common reason for procedure fail)
  • Possible hemorrhage, thus abortion
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32
Q

Role of ultrasound during CVS?

A
  • Visualization of and guidance to chorion frondosum

- Documentation and rechecking of fetal heart

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33
Q

What is cordocentesis?

A

Ultrasoun guided or fetoscope-guided needle puncture of umbilical cord

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34
Q

Purposes of cordocentesis?

A
  • To obtain fetal blood for prenatal diagnosis (diagnostic)

- To transfuse blood to fetus with hemolytic disease (Therapeutic)

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35
Q

Procedure of cordocentesis?

A
  • 22 gauge spinal needle
  • Puncture usually at placental cord origin, but can be in free-floating cord
  • Umbilical vein is preferred target
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36
Q

Reasons for having Diagnostic cordocentesis?

A
  • Evaluation of fetus for immunologic hemolytic disease
  • Rapid karyotyping
  • Detection of fetal infection
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37
Q

What is fetoscopy?

A

Direct visualization of the fetus and umbilical cord using a small bore endoscope
*15-21 weeks

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38
Q

Fetoscopy procedure?

A
  • Fetoscope inserted transabdominally thru uterine wall into amniotic cavity
  • Real-time ultrasound used to survey uterus and determine most suitable passage sites
39
Q

Reasons for fetoscopy?

A
  • Prenatal diagnosis of specific fetal anomalies by direct visualization
  • To guide cordocentesis for fetal blood sampling
40
Q

What is alpha fetoprotein testing?

A

Measurements of alpha fetoprotein concentration in maternal serum (MSAFP) and amniotic fluid
*15-20

41
Q

AFP is initially produced by?

A

Yolk sac, and then by liver

42
Q

AFP levels can detect?

A

Open neural tube defects and other congenital anomalies

43
Q

The highest concentration of AFP is found in?

A

fetal blood then amniotic fluid then maternal serum

44
Q

AFP concentrations in all rise gradually until when?

A

Midtrimester with peak concentrations at 16 weeks

45
Q

What can be cause of increased MSAFP?

A
  • If the fetal body is not covered by a normal integument
  • Some body wall defects
  • Impaired fetal swallowing
  • Increased permeability of fetal kidneys
  • Increased placental permeability (Will not cause ^ AFAFP)
  • Fetal death
  • Multiple gestations
  • Gestational age 2 wks or more greater than estimated clinically
46
Q

What causes increased AFAFP?

A

Almost all are due to NTD

*Women with elevated MSAFP are offerd amnios to determine AFAFP levels

47
Q

What causes decreased MSAFP?

A
  • Chromosomal defects (especially trisomies)

- Increased risk of trisomy 21

48
Q

All of the trisomy disorders represent what?

A

An extra chromosome on the numbered pair

49
Q

What does trisomy 13 represent?

A

A third chromosome on the 13th pair

  • RARE disorder with a poor prognosis
  • Its recurrence risk is LOW
50
Q

What are the congenital abnormalities associated with trisomy 13?

A
  • Cranial malformations (Holoprosencephaly: 78%)
  • Facial Anomalies (Proboscis/Cleft Lip: 70%)
  • Cardiac Defects (Ventriculoseptal defect: 90%)
  • Omphalocele or umbilical hernia (40%)
  • Renal Malformations (Polycystic kidneys: 31%)
  • Limb Malformations (Polydactyly: 70% & Rocker Bottom)
  • Symmetric growth retardation in 3rd trimester
  • Meningomyelocele RARELY present
51
Q

What is medical name for trisomy 18?

A

Edwards syndrome

52
Q

What is trisomy 18?

A

ONE of the MOST COMMON chromosomal abnormalities, extra chromosome on pair 18

53
Q

What is the prognosis of trisomy 18?

A

Poor

*Survival length=5 days, 90% deceased by 1 year of age

54
Q

What are the HALLMARK signs for trisomy 18?

A
  • Polyhydramnios
  • IUGR (Makes fetus susceptible to premature delivery and fetal distress)
  • Congenital Abnormalities
55
Q

Congenital abnormalities associated with trisomy 18 include?

A
  • Cranial anomalies (Hygromas, Nuchal thick, Enlarged CM, Choroid plexus cyst, “Strawberry shaped cranium)
  • Facial malformations (Cleft lip: 10-20%)
  • Meningomyeloceles (10-20%)
  • Caridac anomalies (congenital heart dz, septal defects: 90%)
  • Gastrointestinal disorders (Hernia and omphalocele)
  • Renal anomalies (horseshoe)
  • Skeletal dysplasia (overlapped index finger over a clenched hand and inward curving of 5th digit: 80%)(Clubfoot or rockerbottom)
56
Q

What also can be present with trisomy 18?

A

Small placenta and SUA (80%)

57
Q

A trisomy 18 fetus is at higher risk for?

A
  • Stillbirth and neonatal death

Fetal movements may be decreased in utero

58
Q

What is the medical name for trisomy 21?

A

Downs syndrome

  • Present in approximately 1/600 births
  • Caused by extra chromosome in number 21
59
Q

Trisomy 21 is associated with?

A

Advanced maternal age and low AFP levels

60
Q

Prognosis of trisomy 21?

A

Depends on associated anomalies which are present
*Mental retardation is always present
(Common problems: heart failure, respiratory, premature aging and eye problems)

61
Q

T or F? Many structural anomalies that are present in Down’s are not obvious enough to be detected sonographically

A

True

62
Q

Other anomalies that can be identified with trisomy 21?

A
  • Craniofacial: cystic hygroma, round and small ears- 54%
  • Heart defects: septal defects- 50%
  • Gastrointestinal: duodenal atresia- 30%
  • Skeletal: shortened femurs, hypoplasia, and inward curving of middle phalanx of 5th digit- 60%
  • Thickened nuchal fold: best measured in 2nd tri- 42%
63
Q

What is triploidy?

A

A complete extra set of chromosomes

64
Q

What is triplody caused by?

A

Fertilization of 2 sperm. Only about 1% are conceived. Most end in spontaneuos abortion
*Extremely rare to progress to birth

65
Q

What is triploidy prognosis?

A

Lethal (survival rate= few hours)

66
Q

Most common ultrasound finding of triploidy?

A
  • Severe symmetrical IUGR
  • Oligohydramnios
  • Placental abnormalities (Partial hydaditiform)
  • Other sonographic findings are nonspecific)
67
Q

Triploidy should be considered and karyotping performed anytime there is?

A

Severe IUGR associated with any other congenital anomaly

68
Q

What is Turners syndrome?

A

Genetic abnormality marked by the absence of the X or Y sex chromosome

  • Most end in spontaneous abortion
  • The larger the hygroma, the POORER the prognosis
  • Incidence is 1/5000
69
Q

What gender is associated with Turner’s syndrome?

A

The infants present as female due to the first X of the pair, but there are mosaics where part of the 2nd chromosome is present

70
Q

Turners syndrome is characterized by?

A
  • Short stature
  • Immature sexual developmental
  • Short and webbed neck: cystic hygroma
  • Small mandible
  • Poor motor skills
  • Hearing impairment
  • Cubitus valgus: abnormal elbow angle (70%)
71
Q

Associated sonographic findings of Turners syndromes?

A
  • Cystic hygroma
  • Nonimmune hydrops
  • Cardiac defects (20%)
  • Renal anomalies
  • Abnormally-formed ovaries
72
Q

If the fetus is male what syndrome should be considered?

A

Noonans syndrome

*Thought to be the male counterpart of Turners

73
Q

What finding is present with Noonans that is not present with Turners?

A

Mental retardation

74
Q

A male fetus with what two things will suggest Noonans?

A

Nuchal cystic hygroma and congenital heart disease

75
Q

What is the most common region for cystic hygroma?

A

Occipital region

  • If cystic hygroma is in another area than this, it is usually associated with chromosomal anomalies
  • If it is an isolated finding the prognosis is relatively GOOD
76
Q

What is Meckel-Gruber Syndrome?

A

Autosomal Recessive Disorder- 25% risk of recurrence

77
Q

Common associated anomalies with Meckel-Gruber Syndrome?

A
  • Occipital Encephalocele
  • Polycystic Kidneys
  • Polydactyl
78
Q

Other anomalies that can be associated with Meckel-Gruber Syndrome

A
  • Facial disorders (30% cleft lip)
  • Cranial anomalies (Microcephaly)
  • Short limbs
  • Ventriculomegaly
  • Omphalocele
  • Echogenic kidneys
  • Oligohydramnios
79
Q

What syndrome does Meckel-Gruber Syndrome mimic?

A

Trisomy 13

*AFP will be markedly elevated with Meckel-Gruber

80
Q

What is Beckwith-Weidemann Syndrome?

A

Autosomal Dominant Disorder

*Placental Endrocrine Dysfunction- increased levels of growth hormones

81
Q

Common associated anomalies with Beckwith-Weidemann Syndrome?

A
  • Omphalocele (and other malrotation)
  • Macroglossia
  • Gigantism
  • Hepatosplenomegaly
  • Nephromegaly
  • Cardiac anomalies
  • Diaphragmatic Hernia
82
Q

Caudal Regression Syndrome is associated with?

A

Poorly controlled maternal diabetes mellitus

83
Q

Causes of Caudal Regression Syndrome?

A

Incomplete development of caudal portion of embryo

84
Q

Common associated anomalies with Caudal Regression Syndrome?

A
  • Absent lower spine and sacrum
  • No bladder
  • SUA
  • Genital defects
  • Renal agenesis
  • Oligohydramnios
  • Fusion of lower extremities
  • Imperforate anus absent rectum
85
Q

Facts about syndromes?

A

1/180 births have chromosomal abnormalities

86
Q

An inherited dominant disorder carries what risk of recurrence?

A

50%

87
Q

An inherited recessive disorder carries what risk of recurrence?

A

25%

88
Q

X-linked disorders are inherited by?

A

Boys from their mothers, with a 50% chance of being affected

89
Q

T or F?

All daughters of affected X-linked males will be carriers

A

True

90
Q

What is mosaism?

A

Gene mutation

May occur in a portion of a cell making it difficult to predict the outcome/affect

91
Q

What is Amniotic Band Syndrome?

A

Early rupture of amnion results in amniotic bands that stick, entangle, and disrupt fetal parts resulting in congenital malformations

92
Q

Ultrasound findings of Amniotic Band Syndrome?

A
  • Abnormal SHEET or BAND that attaches to fetus or flaps with fetal movement
  • Restriction of fetal mobility due to entrapment by amniotic band
  • Fetal deformities and malformations:
    * Extremity amputation
    * Edema
    * Postural and body wall defects
    * Facial clefts
93
Q

What is medical name for trisomy 13?

A

Patau

OB Final Exam (1 decks)

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