2007HGSA/RANZCOG 唐氏综合征,爱德华兹综合征和神经管缺陷的产前筛查检测
In Australia and New Zealand, prenatal screening tests are available to identify pregnancies at increased risk of chromosome anomalies such as trisomy 21, trisomy 18 and some structural anomalies such as neural tube defects. Ultrasound and maternal serum screening tests identify fetuses with an increased likelihood of having one of these conditions. Sometimes these conditions are not compatible with live birth, some are associated with long-term and serious morbidity, and some require neonatal investigation or treatment. There is usually no intrauterine fetal therapy.
Screening tests lead to an offer of a diagnostic test (ultrasound, chorionic villus sampling or amniocentesis) to women with pregnancies identified at increased risk of fetal anomaly. In the event of the diagnosis of an anomaly, the woman and her partner may choose to terminate or continue with the pregnancy.
Prenatal screening is best implemented in the context of a comprehensive program that coordinates pre-test counselling and information, biochemical and ultrasound measurements, post-test interpretation, counselling and support during decision making and, where indicated, follow-up consultations and diagnostic testing.
大洋洲人类遗传学学会与皇家澳大利亚和新西兰的妇产科医师学会2007年共同开发的唐氏综合征,爱德华兹综合征和神经管缺陷的产前筛查检测指南。
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皇家澳大利亚和新西兰妇产科医师学会(RANZCOG)成立于1998年10月23日,由皇家澳大利亚妇产科医师学会(RACOG)和皇家新西兰妇产科医师学会(RNZCOG)合并而成。