CASE 1

History:

A 30-year-old gravida 4 para 3 woman has noted minimal fetal movement. She is now at 19 weeks gestation by dates. Her prior pregnancies ended in term births of normal babies who are alive and well at ages 7, 4 and 18 months. On physical examination she measures 17 weeks. A fetal ultrasound is performed and reveals multiple anomalies. A stillborn baby is delivered at 25 weeks.

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Questions:

1. Describe the findings in this case. Is there a specific pattern of inheritance?

2. What is the pathogenesis?

3. Is there additional testing that you would perform?

4. What would you counsel the parents regarding future pregnancies?

CASE 2

History:

A 36-year-old gravida 3 para 2 woman had an uneventful prenatal course, but she received no prenatal care until the third trimester. An ultrasound at 32 weeks gestation suggested that the developing fetus had polydactyly, a cleft lip and palate, and a ventricular septal defect. The baby was born prematurely at 36 weeks. Multiple anomalies were noted at birth. The placenta was normal. Apgar scores were 1 at 1 minute and 3 at 5 minutes. The baby was initially intubated because of poor respiratory effort, and an umbilical vein catheter was placed. However, after discussion with the parents regarding the prognosis, ventilatory support was discontinued and the baby expired 2 hours after birth. An autopsy was performed to determine the findings for genetic counseling.

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Questions:

1. What genetic syndrome is represented here?

2. How do the internal autopsy findings explain the clinical presentation?

3. What do you tell the parents when prenatal testing yields the finding in this case?

4. What if the karyotype revealed a mosaic karyotype?

CASE 3

History:

A 42-year-old gravida 5 para 4 woman had an uneventful prenatal course, though a chromosome analysis performed in the second trimester after amniocentesis at 18 weeks gestation had shown a 47, XX, +21 karyotype. She decided to have the child anyway. Delivery occurred at 38 weeks gestation. At birth, examination of the baby revealed that there were bilateral horizontal palmar creases, low set ears, a flattened facial appearance, oblique palpebral fissures with prominent epicanthal folds, and a short trunk.

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Questions:

1. Why was a chromosome analysis performed in this case?

2. What would a karyotype of the parents show in this case?

3. What are long term complications of this disorder?

4. What would you advise the parents when prenatal testing reveals the finding in this case?

CASE 4

History:

There are three cases of congenital neoplasms presented here.

Example 1:

A fetus was stillborn at term. Ultrasonography had shown a mass lesion in the region of the head.

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Example 2:

A 19-year-old G2 P1 woman had ultrasonography at 19 weeks that demonstrated a mass lesion of the fetus' pelvic region, and an elective termination of pregnancy was performed.

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Example 3:

A liveborn 36 week gestational age infant lived for only 36 hours and had severe fetal hydrops. Ultrasonography had revealed a mass lesion in the right abdominal region.

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Questions:

1. What are the diagnoses for Cases 1, 2 and 3?

2. What are the most common childhood malignant neoplasms? What are the most common benign childhood neoplasms?

3. What are some factors that determine the prognosis?

CASE 5

History:

A term Caucasian girl is the second child born to parents who have no known medical problems. The pregnancy was uncomplicated and the delivery was uneventful, with Apgar scores of 8 at 1 minute and 10 and 5 minutes. The baby was sent home with mother a day after delivery. Within two days, the mother brought the baby back to clinic because the child had seemed irritable and was feeding poorly, with vomiting. When asked about bowel movements, the mother recalled not changing diapers frequently and not noticing any stool in them.

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Questions:

1. What are the differential diagnostic possibilites in this case when the mother brings in the baby?

2. What inherited disorder could account for these findings? What is its frequency and inheritance pattern?

3. What laboratory tests, radiographic studies, or other procedures could you do, for initial diagnosis and then later in life for management of his disease? What diseases are tested for at birth in Utah?

4. Discuss recurrence risks for genetic disorders. What is the risk for having a baby with any significant anomaly? How do you know if an anomaly is related to an environmetal factor or a genetic factor?

CASE 6

History:

A 38 week gestational age baby was born outside of a hospital to a 17-year-old who had a history of intravenous drug use and who smoked 1 pack of cigarettes per day. The baby weighed 2000 gm at birth at 38 weeks. The baby was brought to a hospital emergency room at 5 days following delivery because of marked oozing of blood from the umbilical cord stump. Ecchymoses were noted over the abdomen and scalp as well.

The child was fed only milk in the first year of life. At age one the baby was brought to the emergency room by the grandmother who had noted a hot, swollen area on the right thigh surrounding a 2 cm laceration that was still not healed three weeks after it had occurred. The baby was also found to be anemic.

Questions:

1. What explains the low birth weight (<2500 gm at term)?

2. What vitamin is typically given to newborns to prevent the problem seen here soon after birth?

3. What is a contributing factor for the cellulitis?

4. How do you explain the anemia?

CASE 7

History:

A 38-year-old gravida 5 para 4 mother has a normal prenatal course to 16 weeks gestation. Her doctor has the following tests run: a "triple screen" with maternal serum alpha fetoprotein (MSAFP), beta-HCG, and unconjugated estriol (uE3). The beta-HCG and estriol were normal for gestational age, but the MSAFP was 8 MoM (multiples of the median). A fetal ultrasound was performed and there appeared to be a defect of the back of the torso in the mid-thoracic region. The pregnancy was terminted with a D&E (dilation and extraction) procedure.

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Questions:

1. Why did the physician get a "triple screen" (MSAFP, beta-HCG and unconjugated estriol [uE3]?

2. What is the significance of the laboratory findings?

3. What is the frequency of these kinds of defects?

4. What would happen if the physician did not tell the mother about prenatal diagnostic tests?

5. Is ultrasonography sufficient to detect congenital anomalies?

6. What can you tell parents about potential disabilities for a child with this type of defect?

CASE 8

History:

A 14-month-old child is below the 8th percentile for age in height and 25th percentile in weight. He has had periodic convulsions. On the last of these episodes, which followed a feeding of milk and applesauce, the serum glucose was found to be 27 mg/dL. Additional laboratory findings include serum triglyceride 410 mg/dL, total cholesterol 292 mg/dL, lactate 5.5 mmol/L, and uric acid 11.2 mg/dL. On examination, the child has a very cute, doll-like appearance with prominent cheeks and a protuberant abdomen. An abdominal CT scan reveals an enlarged liver and kidneys.

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Questions:

1. What disorder is most likely represented by these findings?

2. Explain the biochemistry of this disorder.

3. Explain the findings

4. How is this disease treated?

5. What are complications of this disease?