1、1. 對孕婦及胎兒損傷最小的產前診斷方法是（） (7.0分)A. B型超聲掃描 B. 胎兒鏡檢查 C. 羊膜穿刺術 D.絨毛取樣2. A 36-year-old 2nd gravida mother has had amniocentesis done because there is a positive family history of cystic fibrosis and the mother has gestational diabetes and polyhydramnios. Amniotic fluid analysis shows:(1)-fetoprotein level

2、 is raised (2)Acetyl cholinesterase level is raised (3)-Human chorionic gonadotropin level is normal What is the most likely diagnosis?(7.0分)A.Neural tube defectB.Edward syndromeC.Patau syndromeD.Downs syndromeE.Esophageal atresia3. A 30-year-old Caucasian woman elects a chorionic villi sampling (CV

3、S) procedure secondary to a First Trimester Test that was screen positive for Down syndrome, risk 1 in 75. She has a history of polycystic ovaries and is obese. The CVS revealed a normal female karyotype, and the family was given the good news. A level II ultrasound 4 weeks later revealed normal fet

4、al anatomy with the fetal gender visualized as male. Which of the following is the most appropriate and direct follow up testing to clarify the true gender of the fetus?(7.0分)A.21-hydroxylase testing on reserved chorionic villi cellsB.Maternal genetic testing for congenital adrenal hyperplasiaC.Pate

5、rnal karyotypingD.Amniocentesis for fetal karyotypingE.Repeat level II ultrasound4. You are seeing a baby for her 1-month well-child check. She has been diagnosed with achondroplasia by a geneticist. There is no family history of achondroplasia, and the parents are unaffected. The couple was told th

6、at there is a 1-2% recurrence risk to a subsequent pregnancy. What is the best answer to explain why the recurrence risk to this couple is increased above the general population incidence of achondroplasia (1 in 20,000) when the parents are unaffected?(7.0分)A.The possibility of non paternityB.The pa

7、rents themselves may be mosaic for the conditionC.The possibility of consanguinityD.Gonadal mosaicismE.The possibility of skewed X-inactivation5. Your 35-year-old gravida 3 para 2 Caucasian patient has just undergone a chorionic villi sampling (CVS) secondary to a prior pregnancy affected with triso

8、my 21. Her CVS results are normal, 46,XX. The pregnancy history is significant for hypothyroidism, well-controlled with 88 micrograms of levothyroxine daily. She had hyperemesis that resulted in a brief hospitalization for intravenous fluids in the first trimester.Why should this patient undergo mat

9、ernal serum screening in the second trimester of this pregnancy? (7.0分)A.Rule out a twin pregnancyB.Confirmation of CVS resultsC.Determine the risk for open fetal defectsD.Assess the risk for trisomy 18E.Rule out maternal cell contamination in the CVS result6. A healthy couple from the Dominica

10、n Republic presents at the end of the first-trimester of their first pregnancy. The pregnancy history is thus far unremarkable. The couple is highly concerned because they recently learned they are first cousins. They are contemplating pregnancy termination and are seeking counseling regarding the r

11、isks of adverse pregnancy outcome. What will provide the most comprehensive risk assessment information?(7.0分)A.A maternal serum screening testB.Amniocentesis or chorionic villi sampling to assess the fetal karyotypeC.Karyotype analysis on both parentsD.A detailed family historyE.Targeted level II u

12、ltrasound to assess for fetal anomalies7. A Caucasian female infant has a positive newborn screen for cystic fibrosis. Genetic testing has identified a mutation in each of the patients CFTR genes. Parental studies confirmed that the patients mother and father are each carriers. The couple is concern

13、ed about their two other children and their risks of being carriers of cystic fibrosis. What is the risk to this patients unaffected siblings to be cystic fibrosis carriers?(7.0分)A.2 in 3B.1 in 3C.1 in 2D.1 in 4E.3 in 48. A 13-year-old African-American female presents for her annual well child check

14、. The parents report there is a significant family history of cancer. The family history reveals that 2 of the patients maternal aunts were diagnosed with breast cancer in their late 30s. One of these aunts recently had genetic testing for the BRCA1 and BRCA2 genes. The results revealed a mutation i

15、n the BRCA2 gene, which was also identified in the other affected aunt. The family wants their daughter tested for this mutation. What is the most appropriate recommendation in this case?(7.0分)A.Refuse to test the patient; it is unnecessary because the patients mother does not have cancerB.Comply wi

16、th the parents request, as results may alter medical managementC.Recommend the patient start mammogram screening at age 25D.Comply with testing only after a copy of the results identifying the familial mutation is obtainedE.Refuse to test the patient until the child is an adult9. A 17-year-old Afric

17、an American adolescent is pregnant for the first time. She has visited you in the adolescent clinic because she has sickle cell trait (Hgb AS) and wonders what the risk is of having a child with sickle cell disease. The father is a 19-year-old African American man, with whom she has been in a monoga

18、mous relationship and who does not have sickle cell disease.You should advise:(7.0分)A.That the carrier status of the father of the pregnancy needs to be determined before you can accurately answer her question.B.Proceed directly to amniocentesisC.nor the father has sickle cell disease, the product o

19、f this pregnancy cannot be affected.D.Assuming a carrier frequency of 1/14 among African Americans in the United States, there is a 1/112 chance this pregnancy will be affected.E.There is a 1 in 4 chance that the product of each pregnancy will have sickle cell disease.10. Which of the following sex

20、chromosome linked diseases has the clinical feature of short stature, streak gonads, and degradation of oocytes by 2 years of age?(8.0分)A.Duchenne-Becker muscular dystrophyB.Turner syndromeC.Klinefelter syndromeD.Wiskott-Aldrich syndromeE.Hemophilia A11. Availability of DNA testing for many single d

21、isease traits has allowed routine prenatal screening of couples for disorders prevalent in their ethnic group. Which of the following genetic disorders has a similar incidence in different ethnic groups and would not be subject to different criteria for screening? (7.0分)A. Tay-Sachs disease B. Thala

22、ssemias C. Cystic fibrosis D. Down syndrome 12. A couple seek molecular testing for prenatal diagnosis of an autosomal recessive condition. The haplotype in coupling with the mutation is found in both parents by analysis of the parents and the affected child. Analysis of chorionic villus tissue from

23、 the fetus reveals that the fetus inherited only the maternal haplotype in coupling with the mutation. You would counsel them: (7.0分)A. The fetus could be homozygous unaffected if recombination occurred in the mother. B. The fetus could be affected if recombination occurred in the father. C. The fetus is most likely a carrier. D. All of the above. 13.  A couple decide to