Authors' objectives:

The objective of this assessment is to determine the effectiveness, safety, cost implications, ethical, legal and social implications of maternal screening for foetal abnormality of the following conditions: Down's syndrome, neural tube defects and thalassaemia.

Authors' results and conclusions: Down's syndrome: A literature review found that screening using triple serum markers during the second trimester combined with ultrasound to date gestation, increased the detection rate of Down's syndrome compared to the use of the last menstrual period, so as to avoid performing amniocentesis and chorionic villi sampling (CVS). Ultrasound is used as a secondary tool if serum marker results are positive. It also found that thickened nuchal fold visualized by ultrasound in the second trimester is not a practical screening tool for decisions on offering amniocentesis. However screening using serum markers followed by invasive prenatal diagnosis by amniocentesis or CVS has to be carried out with caution. It was also found that a screening programme is more cost effective than caring for Down's syndrome children. There are serious ethical and religious issues in screening of maternal serum. It can be concluded that there is sufficient evidence to support the use of triple serum markers combined with ultrasound in second trimester, but there are major ethical and religious issues especially among the Muslim population. Neural tube defects: There is evidence that the use of maternal serum alpha- fetoprotein and ultrasound is effective to detect neural tube defects. However, there is insufficient evidence to support the use of other modalities of screening. It was found that amniocentesis might cause spontaneous abortion. A screening programme showed cost benefits. However, there are major ethical and religious issues especially among the Muslim population. Thalassaemia: A literature review found that screening tests like MCV/Red cell indices; Hemoglobin A2 estimation, Hb electrophoresis using high performance liquid chromatography or isoelectric focusing; DNA mutation analysis; polymerase chain reaction and other modalities like anti-zeta antibody test are the effective modalities for screening for thalassaemia, However, again there are major ethical and religious issues especially among the Muslim population.

Authors' recommendations: Due to the ethical and religious issues surrounding prenatal screening, invasive diagnostic procedures and termination of pregnancies, a national programme of routine antenatal maternal serum screening for Down's syndrome, neural tube defects and thalassaemia is not recommended. However, screening should be made available to women who request for the test.

Authors' methods: Systematic review

Project Status: Completed

URL for project: http://www.moh.gov.my/

Year Published: 2002

English language abstract: An English language summary is available

Publication Type: Not Assigned

Country: Malaysia

Organisation Name: Malaysian Health Technology Assessment Unit

Contact Address: Health Technology Assessment Unit, Medical Development Division, Ministry of Health Malaysia, Level 21, PERKIM Building, Jalan Ipoh, 51200 Kuala Lumpur, Malaysia. Tel: 603 4045 7781, Fax: 603 4045 77 40

Copyright: Malaysian Health Technology Assessment Unit (MHTAU)