Antenatal Diagnosis of Fetal Abnormalities by N. C. Nevin (auth.), James O. Drife MD, FRCSEd, FRCOG, Dian

By N. C. Nevin (auth.), James O. Drife MD, FRCSEd, FRCOG, Dian Donnai MBBS, FRCP, DCH, DObst, RCOG (eds.)

In few components of medication is development extra astounding than within the box of prenatal analysis. New medical strategies akin to chorion villus sampling, specific ultrasound scanning and cordocentesis are being evaluated via obstetricians, and refinement of biochemical trying out is widening the scope of maternal serum screening. within the laboratory, dramatic advances in molecular biology are happening: households prone to genetic illness might be investigated with gene probes, and preimplantation prognosis of the embryo is now becom­ ing a truth. those technical advances have vital moral and useful implications, between that allows you to be a different raise in public expectancies of the criteria required of antenatal prone. Clini­ cians will desire a excessive measure of ability to notify fit girls concerning the strategies for screening basic pregnancies, and to tips high-risk ladies concerning the advantages and obstacles of prenatal analysis. Obstetricians, scientists and future health carrier managers will face the tricky activity of identifying how prenatal prognosis may be made to be had to girls in a being concerned and comparatively cheap means. Recognising the quick growth during this box, the Royal collage of Obstetricians and Gynaecologists made prenatal analysis the topic of its twenty third research team. a global panel of prime researchers, whose services ranged from molecular biology to philosophy, used to be invited to take part in a 3 day workshop, with time for in-depth dialogue in addition to the presentation of papers.

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References 1. Registrar General (Scotland). Death Registration Tapes. 2. Zador IE, Bottoms SF, Tse GM, Brindlay BA, Sokol RJ. Nomograms for ultrasound visualization of fetal organs. J Ultrasound Med 1988; 7:197-201. 3. Wolfe HM, Sokol RJ, Martier SM, Zador IE. Maternal obesity - a potential source of error in sonographic prenatal diagnosis. Obstet Gynecol 1990; 76:339-42. 4. Nyberg DA, Resta RG, Lathy DA, Hickok DE, Mahoney S, Hirsch JH. Prenatal sonographic findings of Down's syndrome - Review of 94 cases.

There is clearly an impact from screening by whatever method (there, it is AFP) that there is a downward trend in the incidence of the condition generally. I could not put figures on which was the bigger influence, but glancing at the figures it would look as if in that particular population screening was having a bigger impact than any secular downward trend in NTD. Wald: In England and Wales in a survey that Howard Cuckle and I performed, supported by the Department of Health, the majority of the decline was due to screening and antenatal diagnosis by a mixture of ultrasound and AFP.

7. Final diagnosis after delivery in 55 fetuses found to have cystic hygromatous changes ante natally Cystic hygromatous changes only Turner's syndrome with cystic hygroma Trisomy (13, 18 or 21) with cystic hygroma No abnormality at the time of autopsy Generalised hydropic changes only Pulmonary cystadenoma with oedema Cystic hygroma with a limb-body wall defect No abnormality except cleft lip at autopsy Small cervical meningocele only Iniencephaly only Total 22 13 9 3 2 2 1 1 55 It is interesting to note that not a single case was identified for the first time after birth.

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