anteparto

39
Williams Obstetrics Study Guide -Antepartum 03 Question 251 of 499 < Previous question Next question > You incorrectly answered . Which of the following chromosomes is generally NOT involved in Robertsonian translocation? A. 1 B. 13 C. 14 D. 21 Robertsonian Translocation Question 252 of 499 < Previous question Next question > You incorrectly answered . In the event of a 14/21 translocation in the father, what is the chance of having a child with Down syndrome? A. 1 to 2% B. 5% C. 15% D. 50% Robertsonian Translocation Question 253 of 499 < Previous question Next question > You incorrectly answered . Which specific deletion is associated with Wolf-Hirschorn syndrome? A. 2q B. 4p C. 6q D. 8p Deletion 4p Question 254 of 499 < Previous question Next question > You incorrectly answered .

Upload: riky-sanz

Post on 25-Sep-2015

217 views

Category:

Documents


1 download

DESCRIPTION

MEDICINA

TRANSCRIPT

  • Williams Obstetrics Study Guide -Antepartum 03Question 251 of 499 < Previous question Next question >

    You incorrectly answered .

    Which of the following chromosomes is generally NOT involved in Robertsonian translocation?

    A. 1B. 13C. 14D. 21

    Robertsonian Translocation

    Question 252 of 499 < Previous question Next question >

    You incorrectly answered .

    In the event of a 14/21 translocation in the father, what is the chance of having a child with

    Down syndrome?

    A. 1 to 2%B. 5%C. 15%D. 50%

    Robertsonian Translocation

    Question 253 of 499 < Previous question Next question >

    You incorrectly answered .

    Which specific deletion is associated with Wolf-Hirschorn syndrome?

    A. 2qB. 4pC. 6qD. 8p

    Deletion 4p

    Question 254 of 499 < Previous question Next question >

    You incorrectly answered .

  • What is the mechanism by which some autosomal dominant diseases appear to occur at

    earlier ages with subsequent generations?

    A. penetranceB. imprintingC. variable expressivityD. anticipation

    Anticipation

    Question 255 of 499 < Previous question Next question >

    You incorrectly answered .

    Which of the following X-linked conditions is an example of a trinucleotide repeat disorder?

    A. myotonic dystrophyB. hemophilia AC. hemophilia BD. Hunter syndrome

    Myotonic Dystrophy

    Question 256 of 499 < Previous question Next question >

    You incorrectly answered .

    Which of the following is NOT an autosomal recessive disease?

    A. Tay-Sachs diseaseB. congenital adrenal hyperplasiaC. myotonic dystrophyD. sickle-cell anemia

    Table 12-6

    Question 257 of 499 < Previous question Next question >

    You incorrectly answered .

    Approximately what percentage of the genome encodes genes?

    A.

  • D. 50

    Organization of the Genome

    Question 258 of 499 < Previous question Next question >

    You incorrectly answered .

    Which of the following is an X-linked disease?

    A. von Willebrand diseaseB. neurofibromatosisC. Fabry disease D. Tay-Sachs disease

    Table 12-6

    Question 259 of 499 < Previous question Next question >

    You incorrectly answered .

    Trisomy 18 (Edwards syndrome) occurs in how many newborns?

    A. 1 in 1000B. 1 in 8000C. 1 in 16,000D. 1 in 24,000

    Trisomy 18

    Question 260 of 499 < Previous question Next question >

    You incorrectly answered .

    What is the approximate number of base pairs in the human genome?

    A. 1 millionB. 3 millionC. 1 billionD. 3 billion

    Molecular Genetics

    Question 261 of 499 < Previous question Next question >

    You incorrectly answered .

  • What is the best method for detection of both the size of the trinucleotide expansion and

    methylation of the fragile X gene?

    A. fluorescence in situ hybridization (FISH) B. cytogenetic analysis C. polymerase chain reaction (PCR) D. restriction endonuclease digestion and Southern blot

    Fragile X Syndrome

    Question 262 of 499 < Previous question Next question >

    You incorrectly answered .

    Which of the following characteristics is NOT a usual manifestation of the fragile X syndrome in

    affected males?

    A. autismB. macro-orchidismC. mental retardationD. short stature

    Fragile X Syndrome

    Question 263 of 499 < Previous question Next question >

    You incorrectly answered .

    What is the mechanism by which the expression of a particular disease is dependent on

    whether the mutant gene was of paternal or maternal origin?

    A. penetranceB. imprintingC. uniparental disomyD. anticipation

    Imprinting

    Question 264 of 499 < Previous question Next question >

    You incorrectly answered .

    Which of the following is a mitochondrial genetic disease?

  • A. myoclonic epilepsy with ragged red fibers B. Leigh syndrome C. pigmentary retinopathy D. all of the above

    Mitochondrial Inheritance

    Question 265 of 499 < Previous question Next question >

    You incorrectly answered .

    The gene that contains the unstable trinucleotide repeat (ACG) and is responsible for myotonic

    dystrophy is located on what chromosome?

    A. X B. Y C. 9D. 21

    Myotonic Dystrophy

    Question 266 of 499 < Previous question Next question >

    You incorrectly answered .

    Which of the following is NOT currently used for fetal therapy?

    A. cordocentesisB. fetal tissue biopsyC. stem cell transplantationD. vesicoamnionic shunting

    Percutaneous Umbilical Cord Blood Sampling/

    Fetal Tissue Biopsy/

    Fetal Surgery/

    Stem Cell Transplantation

    Question 267 of 499 < Previous question Next question >

    You incorrectly answered .

    Folic acid and 5,10-methylene tetra-hydrofolate reductase (MTHFR) 677 C T mutations are

    associated with neural-tube defects AND

  • A. renal abnormalitiesB. gastrointestinal defects C. cardiac disease D. musculoskeletal defects

    Neural-Tube Defects/

    Cardiac Defects

    Question 268 of 499 < Previous question Next question >

    You incorrectly answered .

    What is the approximate recurrence risk of structural abnormalities that are multifactorial in

    etiology?

    A. 0.5%B. 1%C. 2 to 3%D. 10 to 15%

    Isolated Structural Anomalies

    Question 269 of 499 < Previous question Next question >

    You incorrectly answered .

    Approximately how many mutations have been shown to cause cystic fibrosis?

    A. 9B. 90C. 900D. 9000

    DNA Chips

    Question 270 of 499 < Previous question Next question >

    You incorrectly answered .

    Angelman and Prader-Willi syndromes are due to imprinting of which chromosome?

    A. 5B. 10C. 15D. 20

  • Imprinting

    Question 271 of 499 < Previous question Next question >

    You incorrectly answered .

    What is the recurrence risk of trisomy, either the same involved chromosome or different, in a

    young mother who had a previous pregnancy complicated by an autosomal trisomy?

    A. 1%B. 3%C. 5%D. 10%

    Fetal Aneuploidy

    Question 272 of 499 < Previous question Next question >

    You incorrectly answered .

    What are the multiple coding sequences within a gene called?

    A. exonsB. intronsC. promotersD. demoters

    Coding DNA: Genes

    Question 273 of 499 < Previous question Next question >

    You incorrectly answered .

    Which of the following is transmitted via multifactorial inheritance?

    A. Marfan syndrome B. Fabry syndrome C. neurofibromatosis D. neural-tube defect

    Examples of Multifactorial or Polygenic Defects

    Question 274 of 499 < Previous question Next question >

    You incorrectly answered .

  • In women with no obstetrical or family history of aneuploidy, which of the following is the

    most powerful maternal predictor of aneuploidy?

    A. ageB. raceC. parityD. socioeconomic status

    Fetal Aneuploidy

    Question 275 of 499 < Previous question Next question >

    You incorrectly answered .

    Additionally, you counsel the patient in Question 14 that fetal ultrasonography and

    echocardiography should be performed in future pregnancies at what gestational age?

    A. 6 to 8 weeksB. 10 to 12 weeksC. 20 to 22 weeksD. 26 to 28 weeks

    Congenital Heart Defects

    Question 276 of 499 < Previous question Next question >

    You incorrectly answered .

    What in vitro technique is used to synthesize large amounts of specific DNA sequences over a

    relatively short period of time?

    A. Southern blottingB. restriction endonuclease reactionC. polymerase chain reaction D. allele-specific oligonucleotide reaction

    Polymerase Chain Reaction (PCR)

    Question 277 of 499 < Previous question Next question >

    You incorrectly answered .

    The fetal death rate following amniocentesis approximates which of the following?

    A. 1:100B. 1:200C. 1:400

  • D. 1:500

    Fetal Aneuploidy

    Question 278 of 499 < Previous question Next question >

    You incorrectly answered .

    What is the risk of having anomalous children result from incest (brother-sister or parent-

    child)?

    A. 1 to 5%B. 10 to 15%C. 25 to 30%D. 35 to 40%

    Consanguinity

    Question 279 of 499 < Previous question Next question >

    You incorrectly answered .

    Which of the following diseases is caused by a single mutation?

    A. cystic fibrosisB. myotonic dystrophyC. diabetes mellitusD. sickle-cell anemia

    Coding DNA: Genes

    Question 280 of 499 < Previous question Next question >

    You incorrectly answered .

    Which of the following conditions is NOT inherited in an autosomal dominant fashion?

    A. achondroplasiaB. adult polycystic kidney diseaseC. Marfan syndromeD. cystic fibrosis

    Table 12-6

    Question 281 of 499 < Previous question Next question >

    You incorrectly answered .

  • At term, what is the risk of delivering an aneuploid fetus in a 35-year-old woman?

    A. 1:50B. 1:100C. 1:200D. 1:400

    Fetal Aneuploidy

    Question 282 of 499 < Previous question Next question >

    You incorrectly answered .

    Your newly pregnant patient informs you that her sister was born with spina bifida. You

    counsel her which of the following regarding her fetus' risk for this abnormality?

    A. risk is 10 to 15%B. risk equals that of the general populationC. warrants maternal serum alpha-fetoprotein (MSAFP) level measurementD. warrants MSAFP level measurement plus fetal ultrasonographic examination

    Neural-Tube Defects

    Question 283 of 499 < Previous question Next question >

    You incorrectly answered .

    What percentage of stillbirths and neonatal deaths are attributable to chromosomal

    abnormalities?

    A. 1 to 3B. 5 to 7C. 10 to 12D. 15 to 20

    Fetal Aneuploidy

    Question 284 of 499 < Previous question Next question >

    You incorrectly answered .

    Your patient's first child had an atrioventricular defect. You counsel her that the risk of

    recurrence of the same defect in future pregnancies is which of the following?

  • A. 20%B. 40%C. 60%D. 80%

    Congenital Heart Defects

    Question 285 of 499 < Previous question Next question >

    You incorrectly answered .

    In which of the following chromosomal inversion types does the inverted segment contain

    material from only one arm and does not contain the centromere?

    A. pericentricB. paracentricC. unicentricD. monocentric

    Chromosomal Inversion

    Question 286 of 499 < Previous question Next question >

    You incorrectly answered .

    Women with which of the following characteristics should be offered amniocentesis for fetal

    karyotyping?

    A. previous child was 47,XYYB. twin gestation regardless of maternal ageC. will be 35 years or older at time of deliveryD. prior history of 3 first-trimester spontaneous abortions

    Table 13-1

    Question 287 of 499 < Previous question Next question >

    You incorrectly answered .

    Your patient has just spontaneously aborted a 7-week gestation. You counsel her that

    aneuploidy accounts for approximately what percentage of first-trimester abortion?

    A. 30B. 50C. 70D. 90

  • Fetal Aneuploidy

    Question 288 of 499 < Previous question Next question >

    You incorrectly answered .

    Isolated fetal structural defects are most commonly found in which of the following organs?

    A. liver B. heartC. bladderD. neural tube

    Congenital Heart Defects

    Question 289 of 499 < Previous question Next question >

    You incorrectly answered .

    The most common hemoglobinopathy in the U.S. is found among persons belonging to which

    ethnic or geographic background?

    A. MediterraneanB. Middle EasternC. Southeast AsianD. African American

    Ethnic Groups at High Risk

    Question 290 of 499 < Previous question Next question >

    You incorrectly answered .

    AFP can be found in which of the following body fluids?

    A. fetal urineB. fetal serumC. maternal serumD. all of the above

    Alpha-Fetoprotein (AFP)

    Question 291 of 499 < Previous question Next question >

    You incorrectly answered .

  • Your 25-year-old newly pregnant patient informs you that her cousin was born with

    anencephaly, which has a multifactorial etiology. How do you counsel her regarding her fetus'

    risk for this abnormality?

    A. is greater than that of the general populationB. warrants pregnancy terminationC. warrants amniocentesis at 14 to 16 weeksD. warrants MSAFP level measurement at 16 weeks

    Isolated Structural Anomalies

    Question 292 of 499 < Previous question Next question >

    You incorrectly answered .

    Which of the following has NOT been associated with an increased risk of fetal neural-tube

    defects?

    A. concurrent trisomy 13B. poorly controlled diabetesC. first-trimester acetaminophen useD. high maternal fever early in gestation

    Neural-Tube Defects

    Question 293 of 499 < Previous question Next question >

    You incorrectly answered .

    In screening your patient's fetus for neural-tube defects at 16 weeks gestation, you obtain an

    MSAFP result that is 4.0 MoM. Your patient has no history indicating an increased risk for this

    defect. Which of the following is the next best step in her management?

    A. ultrasonographic examinationB. repeat MSAFP measurementC. amniocentesis for fetal karyotyping D. amniocentesis for amnionic fluid AFP level measurement

    Maternal Serum AFP Screening

    Question 294 of 499 < Previous question Next question >

    You incorrectly answered .

    Exposure to which of the following drugs is associated with an increased risk of fetal neural-

    tube defects?

  • A. carbamazepineB. isotretinoinC. valproic acidD. all of the above

    Neural-Tube Defects

    Question 295 of 499 < Previous question Next question >

    You incorrectly answered .

    At which gestational age is the highest level of amnionic fluid AFP observed?

    A. 7 weeksB. 11 weeksC. 13 weeksD. 17 weeks

    Alpha-Fetoprotein (AFP)

    Question 296 of 499 < Previous question Next question >

    You incorrectly answered .

    What is the mechanism by which both members of one chromosome pair are inherited from

    the same parent?

    A. imprintingB. variable expressivityC. uniparental disomyD. anticipation

    Uniparental Disomy

    Question 297 of 499 < Previous question Next question >

    You incorrectly answered .

    In screening your patient's fetus for neural-tube defects at 16 weeks gestation, you obtain an

    MSAFP result which is 3.0 MoM. Your patient has no history indicating an increased risk for this

    defect. Which of the following is the next best step in her management?

    A. repeat MSAFP level measurementB. amniocentesis for fetal karyotyping C. amniocentesis for amnionic fluid AFP level measurementD. ultrasonography and amniocentesis for amnionic AFP level measurement

  • Maternal Serum AFP Screening

    Question 298 of 499 < Previous question Next question >

    You incorrectly answered .

    In screening your patient's fetus for neural-tube defects at 17 weeks gestation, you obtain an

    MSAFP result of 5.0 MoM. Your patient has no history that points to an increased risk for this

    defect. Ultrasonography reveals a viable singleton gestation with no structural anomalies,

    normal amnionic fluid index, and fetal measurements consistent with gestational age. Which

    of the following is the next best step in her management?

    A. reassuranceB. repeat MSAFP level measurementC. amniocentesis for fetal karyotypingD. amniocentesis for amnionic fluid AFP level measurement

    Amniocentesis

    Question 299 of 499 < Previous question Next question >

    You incorrectly answered .

    Which of the following maternal serum analytes is NOT included in the "triple screen" for Down

    syndrome?

    A. AFPB. placental lactogenC. unconjugated estriolD. chorionic gonadotropin

    Multiple-Marker Screening

    Question 300 of 499 < Previous question Next question >

    You incorrectly answered .

    Unexplained elevated abnormal AFP levels are associated with which of the following

    complications?

    A. fetal deathB. low birthweightC. preterm rupture of membranesD. all of the above

    Unexplained Elevated Abnormal Maternal Serum AFP Levels

  • Question 301 of 499 < Previous question Next question >

    You incorrectly answered .

    Open spine defects are associated with specific cranial lesions in what percentage of cases?

    A. 5B. 33C. 67D. 99

    Ultrasonographic Examination

    Question 302 of 499 < Previous question Next question >

    You incorrectly answered .

    Which of the following is a maternal serum marker used in first-trimester Down syndrome

    screening?

    A. placental lactogenB. acetylcholinesteraseC. pregnancy-associated plasma protein AD. all of the above

    Multiple-Marker Screening

    Question 303 of 499 < Previous question Next question >

    You incorrectly answered .

    Which of the following is the most common cause of familial mental retardation?

    A. trisomy 13B. Down syndromeC. 47,XXY genotypeD. fragile X syndrome

    Fragile X Syndrome

    Question 304 of 499 < Previous question Next question >

    You incorrectly answered .

    Southern blotting is a technique used to identify which of the following?

  • A. histonesB. deoxyribonucleic acid (DNA)C. ribonucleic acid (RNA)D. proteins

    Southern Blotting

    Question 305 of 499 < Previous question Next question >

    You incorrectly answered .

    Levels of MSAFP are influenced by which of the following maternal factors?

    A. raceB. diabetic statusC. maternal weightD. all of the above

    Maternal Serum AFP Screening

    Question 306 of 499 < Previous question Next question >

    You incorrectly answered .

    Cystic fibrosis is inherited via which genetic transmission pattern?

    A. imprintingB. X-linked C. autosomal recessive D. autosomal dominant

    Cystic Fibrosis

    Question 307 of 499 < Previous question Next question >

    You incorrectly answered .

    Which of the following accounts for the largest portion of elevated MSAFP levels in the absence

    of fetal anomaly?

    A. fetal deathB. maternal obesityC. multiple gestationD. incorrect gestational dating

    Maternal Serum AFP Screening

  • Question 308 of 499 < Previous question Next question >

    You incorrectly answered .

    Which of the following fetal cranial ultrasonographic findings is NOT associated with neural-

    tube defects?

    A. lemon signB. banana signC. cabbage signD. ventriculomegaly

    Ultrasonographic Examination

    Question 309 of 499 < Previous question Next question >

    You incorrectly answered .

    Approximately what percentage of couples with recurrent pregnancy loss will have either a

    balanced Robertsonian or reciprocal translocation?

    A.

    You incorrectly answered .

    Increased risk of which of the following is associated with chorionic villous sampling performed

    after 9 weeks gestation?

    A. fetal deathB. limb-reduction defectsC. oromandibular defectsD. cavernous hemangiomas

    Chorionic Villus Sampling

    Question 311 of 499 < Previous question Next question >

    You incorrectly answered .

  • Which of the following conditions may be prevented by preconceptional folic acid

    supplementation?

    A. urogenital defectsB. cleft lipC. fragile X syndromeD. neural-tube defects

    Neural-Tube Defects

    Question 312 of 499 < Previous question Next question >

    You incorrectly answered .

    Antenatal cystic fibrosis screening should be offered when both members of a couple are from

    which of the following ethnic groups?

    A. Southeast AsianB. Ashkenazi JewishC. African AmericanD. Hispanic American

    Carrier Screening

    Question 313 of 499 < Previous question Next question >

    You incorrectly answered .

    Which of the following patients need NOT be offered screening for fragile X syndrome?

    A. males with unexplained mental retardationB. females with unexplained mental retardationC. first-degree relative of patients with known fragile X syndromeD. first-degree relatives of patients with unexplained mental retardation

    Carrier Screening

    Question 314 of 499 < Previous question Next question >

    You incorrectly answered .

    Ultrasonographic measurement of which of the following is commonly used in first-trimester

    Down syndrome screening protocols?

  • A. femur lengthB. intraorbital distanceC. nuchal translucencyD. placental sonolucencies

    First-Trimester Down Syndrome Screening

    Question 315 of 499 < Previous question Next question >

    You incorrectly answered .

    At which gestational age is the highest level of MSAFP observed?

    A. 10 weeksB. 14 weeksC. 18 weeksD. 22 weeks

    Figure 13-2

    Question 316 of 499 < Previous question Next question >

    You incorrectly answered .

    In a woman with an elevated MSAFP level and elevated amnionic fluid AFP, what further

    testing should be performed on the amnionic fluid?

    A. OD 450B. fetal fibronectin assayC. C-reactive protein assayD. acetylcholinesterase assay

    Amniocentesis

    Question 317 of 499 < Previous question Next question >

    You incorrectly answered .

    What percentage of fetuses with Down syndrome can be detected in women older than 35

    years using the triple screen?

    A. 50 to 55B. 65 to 70C. 75 to 80D. 90 to 95

    Multiple-Marker Screening

  • Question 318 of 499 < Previous question Next question >

    You incorrectly answered .

    Which of the following is a risk associated with second-trimester amniocentesis?

    A. chorioamnionitisB. amnionic fluid leakageC. fetal needle stick injuryD. all of the above

    Second-Trimester Amniocentesis

    Question 319 of 499 < Previous question Next question >

    You incorrectly answered .

    In which of the following situations would cordocentesis be appropriate?

    A. red cell alloimmunizationB. nonimmune fetal hydropsC. suspected primary fetal CMV infection D. all of the above

    Percutaneous Umbilical Cord Blood Sampling (PUBS)

    Question 320 of 499 < Previous question Next question >

    You incorrectly answered .

    Which of the following trinucleotide repeats is associated with the fragile X gene (FMR-1)?

    A. CGGB. CAGC. GCTD. GGG

    Fragile X Syndrome

    Question 321 of 499 < Previous question Next question >

    You incorrectly answered .

    What percentage of females with full mutations for fragile X syndrome will have some form of

    mental retardation?

  • A. 5B. 25C. 50D. 100

    Fragile X Syndrome

    Question 322 of 499 < Previous question Next question >

    You incorrectly answered .

    Which of the following has NOT been shown to be an effective method for administering

    medications for fetal medical therapy?

    A. injection into fetal buttockB. injection into amnionic fluidC. injection into the umbilical cordD. oral administration to the mother

    Fetal Medical Therapy

    Question 323 of 499 < Previous question Next question >

    You incorrectly answered .

    In assessing the usefulness of fetal surgery to correct or ameliorate major malformations,

    which of the following should be considered?

    A. maternal risksB. natural history and prognosis of the malformationC. associated high incidence of genetic abnormalitiesD. all of the above

    Fetal Surgery

    Question 324 of 499 < Previous question Next question >

    You incorrectly answered .

    Which of the following changes in the fetal nasal bone have been used as a marker for Down

    syndrome?

    A. absenceB. increased sizeC. decreased sizeD. increased opacification

  • Nasal Bone

    Question 325 of 499 < Previous question Next question >

    You incorrectly answered .

    What percentage of children in the United States are born with a major structural

    malformation detectable at birth?

    A. 1B. 3C. 5D. 7

    Teratology, Drugs, and Other Medications

    Question 326 of 499 < Previous question Next question >

    You incorrectly answered .

    Higher rates of which of the following is a disadvantage of early amniocentesis compared with

    second-trimester amniocentesis?

    A. fetal deathB. foot deformitiesC. membrane ruptureD. all of the above

    Early Amniocentesis

    Question 327 of 499 < Previous question Next question >

    You incorrectly answered .

    Preimplantation genetic analysis techniques can use genetic material from which of the

    following?

    A. blastocystB. first polar bodyC. second polar bodyD. all of the above

    Preimplantation Genetic Diagnosis

    Question 328 of 499 < Previous question Next question >

    You incorrectly answered .

  • What are identical defects with different etiologies called?

    A. hadegensB. parallel dysmorphismsC. phenocopiesD. polymorphisms

    The Defect Must Be Completely Characterized

    Question 329 of 499 < Previous question Next question >

    You incorrectly answered .

    Of the following conditions, which cannot be ameliorated by antepartum vesicoamnionic

    shunting?

    A. urethral atresiaB. renal cystic dysplasiaC. posterior urethral valvesD. ureteropelvic junction obstruction

    Urinary Shunts

    Question 330 of 499 < Previous question Next question >

    You incorrectly answered .

    Approximately what percentage of children have birth defects identified by their teen years?

    A. 5%B. 10%C. 15%D. 25%

    Teratology, Drugs, and Other Medications

    Question 331 of 499 < Previous question Next question >

    You incorrectly answered .

    What percentage of congenital anomalies (structural or functional) are caused by teratogens?

    A. 10B. 25C. 50

  • D. 75

    Teratology, Drugs, and Other Medications

    Question 332 of 499 < Previous question Next question >

    You incorrectly answered .

    Which of the following represents the fetal period?

    A. implantation through week 8B. implantation through week 12C. week 9 until termD. week 12 until term

    Exposure Must Occur During a Critical Developmental Period

    Question 333 of 499 < Previous question Next question >

    You incorrectly answered .

    Damage to a large number of cells during the preimplantation period of development will likely

    result in which of the following?

    A. cell division to compensate for lost cellsB. death of the embryoC. major structural malformationsD. none of the above

    Exposure Must Occur During a Critical Developmental Period

    Question 334 of 499 < Previous question Next question >

    You incorrectly answered .

    Which of the following statements in advocacy of antenatal repair of congenital diaphragmatic

    hernia is true?

    A. Less than 30% of neonates survive postnatal hernia repair.B. Antenatal surgery is associated with only a 15% incidence of preterm birth.C. Several antenatal repair procedures are associated with improved neonatal survival.D. None of the above are true.

    Congenital Diaphragmatic Hernia

    Question 335 of 499 < Previous question Next question >

  • You incorrectly answered .

    Fetal medical therapy is LEAST likely to show beneficial effects in which of the following fetal

    conditions?

    A. cardiac arrhythmiasB. maternalfetal infectionC. posterior urethral valvesD. congenital adrenal hyperplasia

    Fetal Medical Therapy/

    Fetal Surgery

    Question 336 of 499 < Previous question Next question >

    You incorrectly answered .

    What proportion of patients seeking counseling for birth defects have a genetic condition?

    A. < one thirdB. one halfC. two thirdsD. three fourths

    Teratology, Drugs, and Other Medications

    Question 337 of 499 < Previous question Next question >

    You incorrectly answered .

    Antenatal repair of spina bifida has been shown to be associated with which of the following?

    A. minimal maternal morbidityB. improved lower extremity mobilityC. reduced need for ventriculoperitoneal shunt placementD. none of the above

    Neural-Tube Defects

    Question 338 of 499 < Previous question Next question >

    You incorrectly answered .

    To establish teratogenicity, which of the following criteria must be met?

  • A. agent must cross the placentaB. biologically plausible cause and effectC. consistent findings between epidemiological studiesD. all of the above

    Evaluation of Potential Teratogens

    Question 339 of 499 < Previous question Next question >

    You incorrectly answered .

    Which of the following approximates the incidence of major structural or functional

    abnormalities found in neonates?

    A.

    You incorrectly answered .

    Thoracoamnionic shunting is performed to prevent which of the following?

    A. pectus carinatumB. congenital scoliosisC. pulmonary hypoplasiaD. left ventricular hypertrophy

    Thoracic Shunts

    Question 341 of 499 < Previous question Next question >

    You incorrectly answered .

    Which of the following procedures has the highest fetal death rate?

    A. second-trimester amniocentesisB. transcervical chorionic villus samplingC. transabdominal chorionic villus samplingD. all have approximately equivalent rates

    Chorionic Villus Sampling

  • Question 342 of 499 < Previous question Next question >

    You incorrectly answered .

    Pulmonary sequestration and congenital cystic adenomatoid does NOT result in which of the

    following?

    A. fetal hydropsB. pleural effusionC. oligohydramniosD. pulmonary hypoplasia

    Congenital Cystic Adenomatoid...

    Question 343 of 499 < Previous question Next question >

    You incorrectly answered .

    By how many weeks of gestation is formation of the heart complete?

    A. 8B. 10C. 12D. 14

    Figure 14-1

    Question 344 of 499 < Previous question Next question >

    You incorrectly answered .

    Which are the special genes that play an essential role in the establishment of positional

    identity of structures along the body axis?

    A. chronomorphic genesB. homeobox genesC. sequential transcription genesD. vertebrate morphometric genes

    Homeobox Genes

    Question 345 of 499 < Previous question Next question >

    You incorrectly answered .

  • Disruption of metabolic pathways requiring folic acid cause birth defects in all of the following

    structural areas EXCEPT

    A. heartB. neural tubeC. lip and palateD. reproductive tract

    Disruption of Folic Acid Metabolism

    Question 346 of 499 < Previous question Next question >

    You incorrectly answered .

    Which of the following fetal structures is NOT involved in the synthesis of alpha-fetoprotein

    (AFP)?

    A. liverB. yolk sacC. bone marrowD. gastrointestinal tract

    Alpha-Fetoprotein (AFP)

    Question 347 of 499 < Previous question Next question >

    You incorrectly answered .

    Which of the following enzymes is needed to detoxify the oxidative intermediates of several

    potentially teratogenic drugs?

    A. areneoxidaseB. aromataseC. epoxide hydrolaseD. folate dehydrogenase

    Oxidative Intermediates

    Question 348 of 499 < Previous question Next question >

    You incorrectly answered .

    What is the average number of prescriptions, other than for vitamins, received by women

    during pregnancy in the United States?

    A. 1B. 3

  • C. 5D. 7

    Teratology

    Question 349 of 499 < Previous question Next question >

    You incorrectly answered .

    Individuals of Jewish ancestry are at increased risk for which of the following diseases?

    A. CanavanB. GaucherC. Tay-SachsD. all of the above

    Jewish Ancestry

    Question 350 of 499 < Previous question Next question >

    You incorrectly answered .

    Which of the following represents the embryonic period?

    A. fertilization through week 6B. fertilization through week 10C. week 2 through week 8D. week 1 through week 12

    Exposure Must Occur During a Critical Developmental Period

    Question 351 of 499 < Previous question Next question >

    You incorrectly answered .

    Periconceptual folate supplementation lowers the rate of birth defects in mothers taking which

    type of medication?

    A. anticonvulsantsB. corticosteroidsC. hypoglycemics including insulinD. phenothiazines

    Disruption of Folic Acid Metabolism

    Question 352 of 499 < Previous question Next question >

  • You incorrectly answered .

    What is the safe daily threshold dose of alcohol during pregnancy?

    A. 1 ozB. 3 ozC. 5 ozD. not established

    Dose Effect

    Question 353 of 499 < Previous question Next question >

    You incorrectly answered .

    What is the most rational initial approach when a major fetal malformation is discovered using

    ultrasonography?

    A. MSAFP testingB. fetal karyotypingC. parental karyotypingD. serial ultrasonographic examinations

    Incidental Findings of a Major Structural Defect

    Question 354 of 499 < Previous question Next question >

    You incorrectly answered .

    Which of the following is associated with mental retardation, cardiac defects, joint defects, and

    craniofacial anomalies?

    A. alcoholB. amphetaminesC. lysergic acidD. heroin

    Alcohol

    Question 355 of 499 < Previous question Next question >

    You incorrectly answered .

    Which of the following periods is most critical with regard to structural malformations?

  • A. prefertilizationB. zygote (ovum)C. embryonicD. fetal

    Exposure Must Occur During a Critical Developmental Period

    Question 356 of 499 < Previous question Next question >

    You incorrectly answered .

    Anticonvulsant medications are teratogens via what mechanism(s)?

    A. accumulation of free oxide radicals in fetal tissuesB. lowered fetal folate levelsC. both of the aboveD. unknown

    Anticonvulsant Medications

    Question 357 of 499 < Previous question Next question >

    You incorrectly answered .

    Which of the following abnormalities is NOT an effect of fetal warfarin exposure?

    A. midfacial hypoplasiaB. stippled bone epiphysesC. ventral wall defects D. cerebral malformations

    Warfarin Compounds

    Question 358 of 499 < Previous question Next question >

    You incorrectly answered .

    Which of the following antihypertensives is associated with congenital hypocalvaria, renal

    tubular dysgenesis, oligohydramnios, and neonatal hypotension?

    A. sodium nitroprussideB. enalapril C. clonidineD. labetalol

    Angiotensin-Converting Enzyme (ACE) Inhibitors

  • Question 359 of 499 < Previous question Next question >

    You incorrectly answered .

    During what period of gestation can exposure of a female fetus to exogenous androgens cause

    complete masculinization?

    A. 2 to 5 weeksB. 7 to 12 weeksC. 14 to 18 weeksD. 22 to 24 weeks

    Hormones

    Question 360 of 499 < Previous question Next question >

    You incorrectly answered .

    Which of the following is true of high doses of vitamin A ingested during pregnancy?

    A. It is a potent teratogen.B. Supplementation of greater than the recommended daily allowance is not advised.C. It increases the early pregnancy loss rate.D. It should be given at high doses only to treat related maternal diseases.

    Vitamin A

    Question 361 of 499 < Previous question Next question >

    You incorrectly answered .

    Which of the following compounds is highly teratogenic and has been detected in serum

    almost 3 years after cessation of therapy?

    A. isotretinoinB. etretinateC. tretinoinD. vitamin A

    Etretinate

    Question 362 of 499 < Previous question Next question >

    You incorrectly answered .

  • What is the risk of developing vaginal clear-cell adenocarcinoma following in utero exposure to

    diethylstilbestrol (DES)?

    A. 1 in 10B. 1 in 100C. 1 in 1000D. 1 in 10,000

    Diethylstilbestrol

    Question 363 of 499 < Previous question Next question >

    You incorrectly answered .

    Which of the following is NOT a condition associated with an elevated MSAFP level?

    A. omphalocoeleB. cloacal extrophyC. oligohydramniosD. complete molar pregnancy

    Table 13-7

    Question 364 of 499 < Previous question Next question >

    You incorrectly answered .

    Which antineoplastic agent is associated with severe cranial and limb abnormalities?

    A. bleomycinB. tamoxifen citrateC. methotrexateD. platinum

    Methotrexate and Aminopterin

    Question 365 of 499 < Previous question Next question >

    You incorrectly answered .

    Which group of defects are seen in infants of epileptic mothers at a rate almost 10 times that

    of the general population?

    A. facial cleftsB. digital abnormalitiesC. cardiac anomalies

  • D. gastrointestinal strictures

    Anticonvulsant Medications

    Question 366 of 499 < Previous question Next question >

    You incorrectly answered .

    Approximately how many drugs or substances are suspected or proven teratogens?

    A. 30B. 60C. 300D. 600

    Table 14-1

    Question 367 of 499 < Previous question Next question >

    You incorrectly answered .

    Fluorescence in situ hybridization (FISH) is used to detect which of the following?

    A. new mutationsB. aneuploidyC. polyploidyD. fragile X syndrome

    Fluorescence In Situ Hybrid (FISH)

    Question 368 of 499 < Previous question Next question >

    You incorrectly answered .

    Which of the following antimicrobials is a folate antagonist but not associated with adverse

    fetal effects?

    A. trimethoprimB. nitrofurantoinC. tetracyclineD. erythromycin

    Sulfonamides

    Question 369 of 499 < Previous question Next question >

    You incorrectly answered .

  • Fetal tissue biopsy has been used for antenatal diagnosis of which of the following diseases?

    A. muscular dystrophyB. epidermolysis bullosaC. mitochondrial myopathyD. all of the above

    Fetal Tissue Biopsy

    Question 370 of 499 < Previous question Next question >

    You incorrectly answered .

    In utero exposure to DES causes which of the following?

    A. male infertilityB. testicular cancerC. uterine malformationsD. vaginal duplication

    Diethylstilbestrol

    Question 371 of 499 < Previous question Next question >

    You incorrectly answered .

    What is an advantage of transcervical chorionic villous sampling compared with second-

    trimester amniocentesis?

    A. lower fetal death rate B. test results received at an earlier gestational ageC. able to perform even if vaginal bleeding is present D. able to perform on an extremely anteverted or retroverted uterus

    Chorionic Villus Sampling

    Question 372 of 499 < Previous question Next question >

    You incorrectly answered .

    Which craniofacial defect is most strongly associated with use of isotretinoin?

    A. malformed or absent earsB. hypotelorismC. hypoplastic upper lip

  • D. microphthalmia

    Isotretinoin

    Question 373 of 499 < Previous question Next question >

    You incorrectly answered .

    Which of the following antiviral drugs, used as an aerosol inhalation agent in intensive care

    nurseries, consistently produces hydrocephalus and limb abnormalities in rodents?

    A. acyclovirB. amantadineC. famciclovirD. ribavirin

    Antivirals

    Question 374 of 499 < Previous question Next question >

    You incorrectly answered .

    Approximately what percentage of fetuses exposed in utero to isotretinoin will have at least

    one major malformation?

    A. 5B. 20C. 30D. 50

    Isotretinoin

    Question 375 of 499 < Previous question Next question >

    You incorrectly answered .

    According to the Centers for Disease Control and Prevention (CDC), what proportion of

    pregnancies involve cocaine use?

    A. 1 in 500B. 1 in 200C. 1 in 50D. 1 in 20

    Cocaine

    Question 376 of 499 < Previous question Next question >

  • You incorrectly answered .

    What is the most typical problem seen with tetracycline ingestion during the fetal period of

    gestation?

    A. alopeciaB. stained deciduous teethC. hypoplastic fingernails and toenailsD. peeling and discolored skin

    Tetracyclines

    Question 377 of 499 < Previous question Next question >

    You incorrectly answered .

    Fetuses carrying an allele for a rare polymorphism in the transforming growth factor gene are

    at increased risk of which of the follow- ing congenital malformations if their mothers smoke?

    A. cardiac anomaliesB. cleft lip and/or palateC. limb deformitiesD. spina bifida

    Tobacco

    Question 378 of 499 < Previous question Next question >

    You incorrectly answered .

    What is the most rational initial approach when two minor structural abnormalities are

    discovered using ultrasonography?

    A. MSAFP testingB. fetal karyotypingC. parental karyotypingD. serial ultrasonographic examinations

    Incidental Findings of a Major Structural Defect

    Question 379 of 499 < Previous question Next question >

    You incorrectly answered .

  • Which of the following antimicrobials given to the mother near delivery may result in

    significant hyperbilirubinemia in the preterm neonate?

    A. penicillinsB. cephalosporinsC. macrolidesD. sulfonamides

    Sulfonamides

    Question 380 of 499 < Previous question Next question >

    You incorrectly answered .

    Exposure to which of the following hormones is most likely to cause virilization of the female

    fetus?

    A. danazolB. medroxyprogesterone acetateC. norethindroneD. norgestimate

    Danazol