A healthy 19-year-old primigravida is in the 12th week of her pregnancy when she develops vaginal spotting of blood and mild cramping abdominal pain. The pregnancy up to that point has been uncomplicated. On physical examination she is afebrile. There is vaginal bleeding but no exudate. A spontaneous abortion occurs a day later. Which of the following conditions is most likely to produce these findings?

A Placental insufficiency

B Chromosomal abnormality

C Congenital infection

D Toxemia of pregnancy

E Maternal drug use

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A 26-year-old G4 P3 woman gives birth via normal spontaneous vaginal delivery at term. The infant has Apgar scores of 9 and 10 at 1 and 5 minutes and weighs 2950 gm. The placenta is delivered 10 minutes later and weighs 500 gm. Examination of the placenta reveals that the umbilical cord is 100 cm long. Which of the following abnormalities is most likely to have been observed?

A Velamentous insertion

B Placenta previa

C Abruptio placenta

D Amnion nodosum

E Nuchal cord

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A 19-year-old woman is G2 P1. Her previous gestation resulted in a normal term birth at home. Her current pregnancy results in the birth of a 2990 gm baby at 35 weeks. At birth the infant appears hydropic and icteric, but no congenital anomalies are present. The baby's hemoglobin is 8.5 g/dL. The placenta is also hydropic, but microscopic examination of the placenta shows no inflammation of either fetal membranes or placental villi, and there is no meconium staining. Which of the following mechanisms is the most likely explanation for these events?

A Maternal rubella infection in the first trimester

B A maternal chromosomal abnormality

C Maternal antibodies crossing the placenta

D Elevated maternal serum glucose

E Increased maternal phenylalanine levels

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No fetal movement has been felt for the past day by a 25-year-old gravida 3 para 2 woman in her 39th week of pregnancy. Prior to that time, the pregnancy was uncomplicated. The baby is stillborn upon vaginal delivery a day later, after rupture of membranes occurs. Microscopic examination of the placenta reveals marked acute chorioamnionitis. Which of the following infectious agents is most likely responsible for these findings?

A Cytomegalovirus

B Treponema pallidum

C Herpes simplex virus

D Toxoplasma gondii

E Group B streptococcus

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A 17-year-old primigravida has noted no fetal movement during the pregnancy, and she is now at 18 weeks gestation. Oligohydramnios is noted on ultrasound scan, making it difficult to visualize fetal internal organs, but the size of the baby appears consistent for 18 weeks gestational age. Following a counseling session with their physician, the parents decide to proceed with prostin induction for a medically indicated termination of pregnancy. Autopsy reveals no external anomalies upon examination of the the stillborn male. Which of the following findings is most likely to explain this deformation sequence?

A Toxoplasmosis

B Urethral atresia

C Tracheal stenosis

D Imperforate anus

E Right renal agenesis

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A 32-year-old G2 P1 woman has an uncomplicated vaginal delivery of a 30 week gestational age male infant. Apgar scores of 5 and 7 at 1 minute and 5 minutes are recorded at the time of birth. The baby then begins to exhibit increasing respiratory difficulty in the next hour, culminating in the need for intubation and mechanical ventilation. Which of the following laboratory tests during gestation is most likely to predict the complication observed in this infant?

A Maternal serum alpha fetoprotein

B Chromosome analysis on fetal cells from amniocentesis

C Fluorescence polarization (fpol) on amniotic fluid

D TORCH titers on maternal blood

E Maternal cocaine screen on blood and urine

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A 33-year-old G3 P2 woman gives birth at 38 weeks gestation to a male infant who weighs 2270 gm. Apgar scores are 7 and 9 at 1 and 5 minutes after birth. This neonate has no external anomalies present on physical examination except that he appears somewhat disproportionate, with a head size more appropriate for gestational age than body size. The pregnancy was uncomplicated. Which of the following conditions is most likely to account for these findings?

A Trisomy 18

B Niemann-Pick disease

C Gestational diabetes

D Congenital rubella

E Maternal tobacco use

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A genetic counselor elicits the history that three adult males and one adult female in a family of 10 over 3 generations are mentally retarded, the males more severely so. Physical examination of these affected males reveals no major morphologic anomalies, though their testes appear to be slightly enlarged, without mass lesions present. These males have been healthy, without a history of major illnesses. Which of the following genetic abnormalities is the most likely etiology for these findings?

A Klinefelter syndrome

B Gaucher disease

C Fragile X syndrome

D Phenylketonuria

E Down sydrome

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A 21-year-old G2P1 woman feels that she is large for dates. She has felt fetal movement for the past week. She has a screening ultrasound scan performed at 16 weeks gestation. This ultrasound reveals that there is markedly increased amniotic fluid (polyhydramnios). Which of the following fetal abnormalities is most likely to cause this finding?

A Renal agenesis

B Ventricular septal defect

C Cytomegalovirus infection

D Small intestinal atresia

E Anencephaly

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A 25-year-old gravida 3 para 2 woman gives birth at term to twins. Twin A weighs 2290 gm and twin B weighs 2910 gm. Twin A is pale while twin B exhibits plethora with hydrops fetalis. Which of the following is the most likely cause for these findings?

A Diamnionic-dichorionic placenta

B Congenital infection

C Erythroblastosis fetalis

D Twin-twin transfusion syndrome

E Placental hemangioma

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A 24-year old primigravida gives birth at term to an infant with Apgar scores of 8 and 10 at 1 and 5 minutes. No congenital anomalies are noted. The infant develops abdominal distention over the first week of life. An ultrasound scan is performed that suggests the presence of meconium ileus. Subsequently, the infant has persistent steataorrhea during childhood. Which of the following laboratory test findings is most likely related to this child's underlying disease?

A Decreased serum thyroxine

B Positive human immunodeficiency virus serology

C Elevated sweat chloride

D Increased urine homovanillic acid

E Hyperbilirubinemia

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A 20-year-old primigravida experiences a stillbirth at 28 weeks gestation. An autopsy is performed, and the fetus is found to have a hemivertebra, anal atresia, tracheo-esophageal fistula, and renal multicystic dysplasia. The placenta appears normal, and no amnionic bands are seen and no body wall defects are present. Chromosome analysis reveals a 46, XX karyotype. There is no history of any prior birth in this family with such findings. Five subsequent pregnancies in this woman yield normal term births. Which of the following descriptive terms best applies to the abnormalities in this stillborn fetus?

A Deformation

B Disruption

C Sequence

D Single gene mutation

E Association

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A 23-year-old G3 P2 woman gives birth to a normal term male. The pregnancy was uncomplicated. Apgar scores are 10 and 10 at 1 and 5 minutes following birth. The infant weighs 2930 gm and the placenta weighs 550 gm. Which of the following umbilical cord findings is most likely to be found on gross and microscopic examination of this infant's placenta?

A 90 cm length

B One artery and one vein

C Paracentral (slightly off-center) insertion into the placental disk

D A single knot near the midpoint

E Focal infiltration by neutrophils

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A 20-year-old G2 P1 woman has had an uncomplicated pregnancy, but she has received no prenatal care. She goes into labor at term. During the birth process, she experiences sudden extensive hemorrhage with profuse vaginal bleeding. The baby is liveborn and weighs 2790 gm. Which of the following is the most likely diagnosis?

A Umbilical cord prolapse

B Placenta previa

C Chorioamnionitis

D Placental infarction

E Gestational diabetes

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A clinical study is performed to determine when fetal malformations are most likely to occur during gestation when mothers who have not received prior immunization become infected by rubella virus. The study examines abortuses for congenital anomalies. When in gestation are malformations most likely to arise with rubella infection?

A Implantation

B 5 weeks

C 3 months

D 6 months

E Term

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An 18-year-old primigravida gives birth at term via uncomplicated vaginal delivery. The baby weighs weighs 1500 gm and the placenta weighs 330 gm. No congenital anomalies are noted. Which of the following conditions is most likely to produce these findings?

A Prematurity

B Intrauterine growth retardation

C Maternal diabetes mellitus

D Cystic fibrosis

E Abruptio placenta

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A 7-month-old infant has failure to thrive, with vomiting and diarrhea noted since 1 month of age. Developmental neurologic milestones are not being met. A physical examination reveals hepatomegaly. The eyes show cataract formation in the crystalline lenses. The baby dies of fulminant Escherichia coli septicemia at 8 months of age. Which of the following congenital abnormalities is most likely to produce these findings?

A Von Gierke's disease

B Marfan's syndrome

C Galactosemia

D Congenital rubella

E Phenylketonuria

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A 27-year-old G4 P3 woman gives birth at term to a 2900 gm infant with Apgar scores of 9 and 10 at 1 and 5 minutes following birth. Since 1 of 3 siblings has had a prior diagnosis of a congenital disease, this infant is tested for sweat chloride and is found to have an elevated level. Which of the following conditions is most likely to complicate this infant's neonatal period?

A Pneumonia

B Hyperglycemia

C Meconium ileus

D Right heart failure

E Hepatic failure

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A 10-year-old child has joints that show marked hypermobility, and her skin is hyperextensible. These features are most suggestive of which of the following inherited diseases?

A Marfan syndrome

B Osteogenesis imperfecta

C Ehlers-Danlos syndrome

D Von Recklinghausen disease

E Xeroderma pigmentosa

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A 24-year-old primigravida has some cramping pain followed by passage of some fluid along with a foul-smelling discharge late in the second trimester. The fetus is stillborn 2 days later. Examination of the fetal membranes microscopically show neutrophilic infiltrates. Which of the following organisms is most likely to be responsible for these findings?

A Mycobacterium tuberculosis

B Herpes simplex virus

C Escherichia coli

D Treponema pallidum

E Candida albicans

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A 25-year-old woman has a workup for infertility. She has never experienced menarche. On physical examination she is short, with a broad chest and a webbed neck. She has normal intelligence. A blood sample is obtained for chromosome analysis. Which of the followin karyotypes is she most likely to have?

A 47, XXX

B 45, X

C 46, XX

D 47, XXY

E 46, XX / 47, XXY

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A study is performed to analyze causes for fetal loss. Autopsy findings from abortuses and stillborn fetuses are collected. Which of the following conditions is most likely found to compromise fetal survival prior to delivery:

A Hypoplastic left heart

B Diaphragmatic hernia

C Galactosemia

D Spina bifida

E Toxoplasmosis

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A 30-year-old G2 P1 woman gives birth at 37 weeks gestational age. Apgar scores are 8 at 1 minute and 10 at 5 minutes. The baby is noted to weigh 4150 gm. However, within 3 hours after delivery, the baby is irritable and exhibits seizure activity. Laboratory studies show that the baby's blood glucose is 22 mg/dl. Which of the following is the most likely diagnosis?

A Congenital syphilis

B DiGeorge syndrome

C Gestational diabetes

D Acute pancreatitis

E Rhabdomyosarcoma

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A clinical study is performed involving persons who have an inherited genetic mutation involving a large gene that encodes for a structural protein known as fibrillin. Affected persons develop aortic root dilation, mitral valve prolapse, and dislocated ocular lenses. Of the following statements regarding this inherited condition, which is the most accurate?

A Features of the condition typically appear early in life

B Heterozygotes do not usually manifest the disease

C Spontaneous new mutations are infrequent

D Gene expression is often uniform, especially in families

E Genes coding for enzymes are typically implicated

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A 25-year-old primigravida experiences a spontaneous abortion at 13 weeks gestation. She had an uncomplicated pregnancy up to that time. There is no family history of congenital abnormalities. Her nutritional status is normal. Which of the following is the most likely cause for her fetal loss?

A Placental abruption

B Umbilical cord torsion

C Congenital syphilis

D Trisomy 16

E Bicornuate uterus

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A 39-year-old G3 P2 woman has felt minimal fetal movement since 16 weeks gestaion.. She gives birth at 30 weeks gestation to a stillborn male. At autopsy this fetus is found to have lungs that are only 1/3 the weight of normal for that gestational age. There are no external anomalies noted, but the baby's nose is flattened and there are prominent infraorbital creases, as well as contractures of the arms. Which of the following is most likely to cause these findings?

A An auto accident suffered by the mother

B Maternal polyhydramnios

C Renal agenesis

D Decreased fetal surfactant production

E Cystic fibrosis

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A 31-year-old G2 P1 woman has an uncomplicated pregnancy and gives birth at term. Examination of the newborn reveals aniridia. The external genitalia are ambiguous. Chromosome analysis reveals male sex with a 46, XY karyotype. The infant does not meet developmental milestones and it is apparent by the age of two that mental retardation is present. At the age of 3 the child is found to have a left renal mass. Which of the following conditions is this child most likely to have?

A WAGR syndrome

B Edwards syndrome

C Tay-Sachs disease

D Amnionic band syndrome

E Galactosemia

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A 25-year-old mother notes that her 18 month old child is not keeping up with the normal growth curve for the past 5 months. She has noted that her child has not been feeding well over that time. The baby's abdomen seems larger than it should be. On physical examination, there is a left upper quadrant mass. Which of the following is the most likely diagnosis in this child?

A Recessive polycystic kidney disease

B Cystic fibrosis

C Galactosemia

D Neuroblastoma

E Cystic hygroma

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A 21-year-old primigravida gives birth at 29 weeks gestation. At one minute after birth, the baby appears blue in color, has a heart rate of 40/minute, exhibits no respirations, is flaccid with no movement, and does not respond to stimulation. Which of the following is the baby's Apgar score most likely to be at 1 minute?

A 0

B 1

C 2

D 3

E 4

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A clinical study reveals that malformations occur in some, but not all, fetuses whose mothers contract a certain viral infection during pregnancy. Which of the following maternal exposures is most likely to result in cardiac malformation in the fetus?

A A week before her first missed menstrual period

B At 5 weeks gestation

C A day following premature rupture of membranes (PROM)

D At 16 weeks gestation

E During delivery

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An autopsy study is conducted to determine distinguishing features for abortuses and stillbirths, since there are medicolegal ramifications to such a classification. A fetal death certificate is required when the findings suggest survival in utero to 20 weeks gestation. Which of the following features is most likely to be present in an "abortion" rather than a "stillbirth"?

A Absence of congenital malformations

B Manner of delivery

C Presence of maceration

D Presence of infection

E Weight of the body

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A 33-year-old G4 P3 woman gives birth to a male infant at 32 weeks gestation. The baby weighs 3550 gm. No congenital anomalies are noted. An episode of hypoglycemia is treated with intravenous glucose. An hour after birth, the infant develops respiratory distress. Intubation with positive pressure ventilation is performed to maintain adequate oxygenation. Which of the following prenatal tests on the mother would most likely have predicted this outcome?

A Elevated serum alpha-fetoprotein

B Ultrasound scan demonstrating polyhydramnios

C Amniocentesis with 47, XYY karyotype

D Elevated hemoglobin A1C

E Increased serum beta-human chorionic gonadotropin

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A 20-year-old primigravida gives birth at term to twins. The babies are both male, but one weighs 2100 gm and the other weighs 2700 gm. The larger baby is plethoric and the smaller baby exhibits pallor. No congenital anomalies are noted on examination of both babies. Over the next year, the babies develop to become approximately the same size. How are the differences between these twins best explained?

A The mother had an elevated hemoglobin A1C

B A chromosomal abnormality is present in one baby

C The placenta was monochorionic

D One baby was infected with Herpes simplex virus

E There was a maternal dietary deficiency of iron

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A 16-year-old primigravida gives birth to a 38 week gestational age male. At the time of delivery, it is noted that the umbilical cord has a single artery and vein. Which of the following is the most significant result of this finding in the cord?

A There is a greater likelihood for congenital anomalies

B Maternal diabetes is probably present

C There is increased risk for infection

D Fetal hypoxia will lead to respiratory distress

E This appearance is typical for the umbilical cord.

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A 24-year-old G1 P1 woman gives birth to a male infant at 36 weeks gestation. Microscopic examination of the placenta following delivery reveals that numerous polymorphonuclear leukocytes are present in the fetal membranes (both chorion and amnion). Which of the following is most likely to be associated with this placental finding?

A Herpes simplex infection

B A multiple gestation

C Meconium staining

D Abruptio placenta

E Premature rupture of membranes

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A 45-year-old woman is worried about having a child with Down syndrome if she becomes pregnant. What procedure can you do in the course of giving prenatal care that will best allow you to determine if the fetus has Down syndrome?

A Amniocentesis

B Ultrasonography

C Maternal serum alpha-fetoprotein

D Maternal blood typing

E Pap smear

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A 32-year-old woman gives birth at 31 weeks gestation. Within an hour following delivery, the neonate develops respiratory distress and expires despite intubation and mechanical ventilation. An autopsy is performed. The lungs are firm and airless; on microscopic examination the lungs demonstrate extensive pink hyaline membranes in alveoli. Which of the following conditions is most likely to cause these findings?

A Trisomy 16

B Twin-twin transfusion

C Two vessel umbilical cord

D Maternal diabetes mellitus

E Lack of surfactant

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A 30-year-old G3 P2 woman has felt minimal fetal movement by 17 weeks gestation. On examination the uterine size appears small for dates. An ultrasound scan shows growth retardation. Amniocentesis is performed and chromosome analysis on fetal cells reveals a 47 XX, +13 karyotype. Whichc of the following ultrasound findings is most likely to be present in this fetus?

A Oligohydramnios

B Cystic hygroma of the neck

C Polydactyly

D Hepatomegaly

E Neural tube defect

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A 29-year-old G4 P3 woman gives birth via vaginal delivery at 40 weeks gestation. The infant boy weighs 3020 gm. The placenta is delivered 10 minutes later and weighs 540 gm. Upon gross inspection, the fetal surface of the placenta has a greenish appearance. Which of the following is the most likely diagnosis for this placental appearance?

A Placenta previa

B Abruptio placenta

C Amnion nodosum

D Chorioamnionitis

E Meconium staining

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A 16-year-old primigravida delivers a 2000 gm infant girl at 38 weeks gestation. Apgar scores are 6 and 8 at 1 and 5 minutes after delivery. The placenta weighs 400 gm. Which of the following statements is the most appropriate interpretation of these findings?

A The birth weight suggests a significantly increased risk for death.

B The mother has diabetes mellitus type 1.

C The neonate is more likely to develop intraventricular hemorrhage.

D Respiratory distress syndrome is likely to occur.

E A congenital infection is likely to be present.

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A study is peformed of twin placentas. These placentas are examined grossly and microscopically following delivery. Most of these twin placentas are found to be diamnionic and dichorionic upon microscopic examination of dividing membranes. Which of the following is most likely to be found with increased frequency in infants with such placentas?

A Non-identical twins.

B Twin-twin transfusion syndrome.

C Congenital malformation

D Infection

E Failure to thrive.

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A 2-year-old child has failure to thrive. The child exhibits convulsions. On physical examination there is hepatomegaly along with multiple ecchymoses of various ages of the skin. Laboratory studies show a blood glucose of 31 mg/dL. Liver biopsy us performed and microscopic examination shows hepatocytes filled with clear vacuoles that stain positively for glycogen. Which of the following inborn errors of metabolism is this child most likely to have?

A McArdle syndrome

B Hurler syndrome

C Tay-Sachs disease

D Von Gierke disease

E Pompe disease

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A 10-year-old boy is mentally retarded, but able to carry out activities of daily living, including feeding himself and dressing himself. On physical examination, he has brachycephaly and oblique palpebral fissures with prominent epicanthal folds. On the palm of each hand is seen a transverse crease. Upon auscultation of the chest, there is a loud systolic murmur. Which of the following diseases will he most likely develop by the age of 20:

A Chronic renal failure

B Hepatic cirrhosis

C Acute leukemia

D Acute myocardial infarction

E Aortic dissection

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