【医学课件】产前诊断

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1、 產前診斷產前診斷 Prenatal Diagnosis鄭博仁副教授鄭博仁副教授 Prenatal ScreeningnHistorynMaternal serum screeningnUltrasoundnInvasive testingGenetic HistorynPrevious historynFamily historynEthnic groupnMaternal AgePrior HistorynPrevious aneuploid fetusnKnown balanced translocation carriernKnown inversion carriernHistory

2、 of recurrent miscarriage nHistory of stillbirthnPrevious anomalous fetusFamily HistorynAutosomal dominant conditionsnAutosomal recessive conditionsnX-linked recessive conditionsnMental retardationnCongenital cardiac diseaseEthnic BackgroundnAfrican AmericannItalian, Greek or MediterraneannSoutheast

3、 AsiannEastern European JewishnFrench CanadiannCajunThalassemianDOH ,Taiwan, now recommend offering screening to all prenatal and preconception patientsnCarrier frequency and carrier detection rate vary based on on ethnic backgroundCystic FibrosisnCarrier DetectionMaternal Age1/101/201/401/501/1001/

4、1000 OSCAR - A One Stop Clinic for Assessment of Risk for fetal anomalies. nUltrasound markers of chromosomal anomalies - fetal nuchal translucency thickness at 10-13 weeks.Developments & Innovations Leading to OSCAR Increased fetal nuchal translucency thickness in a case of T21 nUltrasound mark

5、ers of chromosomal anomalies - fetal nuchal translucency thickness at 10-13 weeks.nBiochemical markers of chromosomal anomalies - free hCG & PAPP-A at 10-13 weeks.Developments & Innovations Leading to OSCARMaternal Serum ScreeningnSecond TrimesterqAFP, hCG, UE3qDetection rate for aneuploidy

6、and screen-positive rate vary with maternal ageMaternal Serum ScreeningnFirst TrimesterqFree -hCG and PAPP-AqCombined with nuchal translucency screeningqDetection rate 82-91%qFalse positive rate 3.3-7.9%孕婦血清甲型胎兒蛋白昇高可能之原因孕婦血清甲型胎兒蛋白昇高可能之原因妊娠年齡低估妊娠年齡低估先兆性流產先兆性流產多胞胎多胞胎胎兒異常胎兒異常 無腦兒無腦兒 開放性神經管缺損開放性神經管缺損 Tu

7、nersTuners症症 腸阻塞腸阻塞 皮膚缺損皮膚缺損遺傳性孕婦持續性甲型胎兒蛋白遺傳性孕婦持續性甲型胎兒蛋白胎盤血管瘤胎盤血管瘤New PossibilitiesnFetal cells in the maternal circulationnFetal DNA in the maternal circulationUltrasoundnMajor anomalies are frequently associated with chromosomal abnormalitiesnThe incidence of chromosomal abnormalities varies great

8、ly with the type of anatomic defectq80% for fetal hydrops early in gestation q2% for facial cleftsUltrasoundnMajor anomaliesUltrasound Soft Signsn“Soft signs are ultrasound findings that do not represent anatomic abnormalities but are associated with karyotypic abnormalitiesnIf fetal karyotype is no

9、rmal, these findings do not have clinical significanceUltrasound Soft SignsnThese findings are used to increase suspicion for karyotypic abnormalities nDifferent findings are associated with different risks of aneuploidyq 5% for a thickened nuchal fold in a high risk patientq 0.2% for a choroid plex

10、us cyst in a low risk patientUltrasoundn“Soft signs產前遺傳診斷技巧產前遺傳診斷技巧n超音波超音波 平安平安n 妊娠中期操作妊娠中期操作n羊水穿刺羊水穿刺 操作危險性操作危險性0.5%n 妊娠中期操作妊娠中期操作n 廣泛使用廣泛使用n絨毛切片絨毛切片 操作危險性操作危險性0.1%n 妊娠初期操作妊娠初期操作n 高難度高難度n臍帶穿刺臍帶穿刺 操作危險性操作危險性1%n 妊娠中期操作妊娠中期操作n 極高難度極高難度n胎兒組織切片胎兒組織切片 操作危險性操作危險性3%n 妊娠中期操作妊娠中期操作n 非常高難度非常高難度n胚胎切片胚胎切片 發展中發展

11、中n 產前診斷的一般準則產前診斷的一般準則n高遺傳危險性高遺傳危險性n嚴重性疾病嚴重性疾病n無法治療無法治療n可靠的產前診斷測試可靠的產前診斷測試n妊娠終止可被接受妊娠終止可被接受產前診斷的應用產前診斷的應用n孕婦血清n 篩檢 甲型胎兒蛋白AFP測定n超音波 構造異常 n羊水穿刺 甲型胎兒蛋白測定n 染色體分析n 生化分析n絨毛切片 DNA分析n 染色體分析n 生化分析 n臍血採樣 染色體分析n DNA分析n Invasive TestingnWays to obtain fetal cells for karyotype and DNA testingqChorionic villus sa