Prenatal Diagnosis Of Fetal Abnormalities Research Articles

Amniotic fluid acetylcholinesterase ratios in prenatal diagnosis of fetal abnormalities

This study examined 141 pregnancies with acetylcholinesterase in the amniotic fluid to determine if an acetylcholinesterase/pseudocholinesterase ratio cutoff could be set to distinguish between neural tube defects, ventral wall defects, other fetal defects, and pregnancy problems. Amniotic fluid specimens with positive or faintly positive acetylcholinesterase bands were studied. They were scanned and analyzed for the acetylcholinesterase/pseudocholinesterase ratio. In 62 of 65 fluid samples from open neural tube defects, the acetylcholinesterase/pseudocholinesterase ratios were > 0.13. All cases with ventral wall defects (n = 29), fetal blood contamination (n = 16), or fetal ascites (n = 2) had acetylcholinesterase/pseudocholinesterase ratios < 0.13. Samples of cystic hygroma fluid (n = 10) had acetylcholinesterase/pseudocholinesterase ratios > 0.13. Two patients with fetal teratomas had intermediate values. All patients with normal outcomes but positive acetylcholinesterase had ratios of < 0.12. Acetylcholinesterase/pseudocholinesterase ratios are a valuable part of a prenatal program to accurately diagnose fetal abnormalities.

The status of prenatal diagnosis and fetal surgery

The last two decades have witnessed the revolutionary development and clinical application of several techniques for prenatal diagnosis of fetal abnormalities. Amniocentesis has helped to establish the diagnosis of major chromosomal and inherited metabolic disorders. Sonography has identified congenital malformations incompatible with life and has permitted the early diagnosis of correctable congenital malformations. Antenatal knowledge of these abnormalities can potentially decrease neonatal morbidity and mortality because the appropriate preparations can be made in advance of the delivery. The International Fetal Surgery Registry of 1985 reported 73 cases of fetal obstructive uropathy treated by in utero placement of a chronic vesico-amniotic shunt. No relationship could be demonstrated between survival and amniotic fluid volume or fetal age at diagnosis or treatment. Twenty-seven of 29 deaths were reportedly due to pulmonary hypoplasia. The data strongly suggests the need to develop a test that evaluates fetal pulmonary status. The registry data on 41 cases of hydrocephalic fetal decompression were reviewed. Survival was 83%, however 54% of cases survived with a moderate to severe handicap. No relationship between duration of shunt placement and outcome could be determined. The outcome data was difficult to interpret. No conclusions were made or implied concerning whether or not these fetuses were actually benefited by the procedure. Fetal surgery can be performed with an acceptable procedure —related mortality and morbidity. As of this date, we can not conclude that in utero fetal surgery has improved survivor morbidity. The registry data points to the need for controls and for a properly designed prospective study.

The psychological impact of prenatal diagnosis of fetal abnormality: strategies for investigation and intervention.

Though there are distinct technical advantages to medical advances allowing prenatal diagnosis of fetal abnormalities, the psychological impact of the use of these procedures has been given little consideration. While early detection of impairment may provide parents with an opportunity for emotional preparation, it also may precipitate a long period of distress. Toward the end of clarifying this indeterminate impact of prenatal diagnosis of fetal abnormality, the literature addressing the emotional consequences of giving birth to an impaired infant is examined for its relevance to the prenatal diagnostic situation. The clinical and research implications of this extrapolation of an existing literature to an important new question are considered. It is concluded that health care professionals must begin to explore systematically the psychological impact of the use of this technology, and must use their increased understanding clinically to promote not only the physical health of the neonate, but also its emotional well-being and that of its parents.

On the use of α-fetoprotein and prolactin in prenatal diagnosis of fetal abnormalities in early pregnancies

In the search for laboratory tests to aid in the diagnosis of fetal malformation we have explored the usefulness of assaying prolactin in amniotic fluid. The results have been compared to those obtained with α-fetoprotein analyses.

Amniocentesis in the prenatal diagnosis of fetal abnormalities

Amniocentesis in the prenatal diagnosis of fetal abnormalities

Gel electrophoresis of amniotic fluid acetylcholinesterase as an aid to the prenatal diagnosis of fetal defects

The presence or absence of a specific acetylcholinesterase (AChE) band was determined by polyacrylamide gel electrophoresis on 272 second trimester amniotic fluid samples. The AChE band was absent from 176 normal samples, including seven which had been scored as false positives by alphafetoprotein (AFP) assay. It was present in all 30 samples from open neural tube defects, of which four had been scored as false negatives by AFP assay. In the remaining 66 pregnancies with abnormal outcome, an AChE band was in general present when AFP was raised and absent when it was normal. However, all six cases of congenital nephrosis had raised AFP and no AChE band, while two of 30 pregnancies ending in spontaneous abortion had an AChE band and normal AFP. These results suggest that AChE electrophoresis is a valuable confirmatory technique for the early prenatal diagnosis of fetal abnormalities.

Review of `The provision of services for the prenatal diagnosis of fetal abnormality in the United Kingdom'. Report of the Clinical Genetics Society Working Party. Supplement No 3 to the Bulletin of the Eugenics Society, November 1978

Review of `The provision of services for the prenatal diagnosis of fetal abnormality in the United Kingdom'. Report of the Clinical Genetics Society Working Party. Supplement No 3 to the Bulletin of the Eugenics Society, November 1978

Attitudes toward abortion and prenatal diagnosis of fetal abnormalities: implications for educational programs.

Abstract Genetic counseling, second trimester amniocentesis, reliable techniques for analyzing fetal amniotic fluid and selective abortion together have the potential to prevent a variety of serious birth defects. Advances in technique and/or changing patterns of childbearing may place a large number of women in age groups where genetic counseling programs are recommended. However, attitudes toward abortion may be a critical variable in ascertaining the potential of genetic counseling programs to reduce birth defects. If opposition to abortion is based on a moral commitment, greater awareness of genetic counseling programs will lead to opposition to these programs. If attitudes toward abortion are based upon an evaluative process, such opposition is less likely to occur. Using a sample of women from the Rochester, New York, area (N = 1,616) whose attitudes toward abortion match U.S. estimates, we find that the greater the knowledge about prenatal screening, the less prevalent are attitudes opposed to abor...

Combined use of alphafetoprotein and amniotic fluid cell morphology in early prenatal diagnosis of fetal abnormalities.

The combined use of alphafetoprotein (AFP) measurement and amniotic fluid cell morphology was assessed in 217 pregnancies with normal outcome (including 12 where an anterior placenta was traversed), and 52 where there was a fetal defect (25 cases of anencephaly, 21 of open spina bifida, 2 of exomphalos, 2 of urogenital atresia, and 2 of intrauterine death). In each case maternal serum and amniotic fluid AFP was measured. Total, viable, and rapidly adherent cells were counted and amniotic fluid cell morphology was examined. On the basis of this experience a scheme is suggested for more precise antenatal diagnosis of fetal abnormalities.

Prenatal diagnosis of fetal abnormalities in the second half of pregnancy

Prenatal diagnosis of fetal abnormalities in the second half of pregnancy