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Biomedical subjects

G H Prescott

Publications and source records attributed to G H Prescott.

At least 19 recordsLinked to original sources
PubMed1988

Sonography at the time of genetic amniocentesis to screen for fetal malformations.

Obstetric ultrasound performed in conjunction with genetic amniocentesis at 14-18 weeks' gestation identified 16 fetuses with structural malformations among 4781 examinations. The outcomes for these 16 fetuses included 12 terminations, two fetal deaths, one related death six months after birth, and one transient abnormality with no apparent significant sequelae. The ultrasound examination failed to detect at least nine other fetuses with structural malformations. The relatively small size and early stage of development of the fetuses at the time of genetic amniocentesis appears to have contributed to the failure of ultrasound to detect these malformations. A brief search for fetal malformations during obstetric ultrasound performed at early genetic amniocentesis appears productive enough to be worthwhile. However, if there is a special indication to search for fetal malformations, the ultrasound examination should probably be repeated later.

Amniocentesis↗
PubMed1986

Utility of a screening examination of the fetal extremities during obstetrical sonography.

The hands, feet, and long bones of the extremities were visualized and an image of the femur was obtained as part of a brief fetal anatomy survey during approximately 6,700 low-risk and high-risk obstetric sonograms. This examination identified four fetuses with five instances of isolated extremity abnormalities and nine fetuses with ten instances of generalized extremity abnormalities. Isolated abnormalities included malformation or complete or partial absence of an extremity. Generalized abnormalities included fused hands and feet, polydactyly, phocomelia, hyperechoic muscle with contractures, and several varieties of dwarfism. Most fetuses had other structural abnormalities as well and two had an abnormal family history. The sensitivity of the fetal anatomy survey for the detection of extremity malformations would not have been changed if the routine femur measurement had been retained but the systematic visualization of the fetal extremities had been done only in selected fetuses with a malformation of any kind or an abnormal family history.

Bone and Bones↗
PubMed1986

Fetal facial abnormalities identified during obstetric sonography.

The orbits and, if readily accessible, the facial profile were visualized as part of a brief fetal anatomy survey during approximately 7100 low-risk and high-risk obstetric sonographic examinations. This examination identified 17 facial abnormalities in 11 fetuses. There were seven abnormalities of the eyes, including three instances of absence of both eyes, two of hypertelorism, one of proptosis, and one of relative prominence. There were seven abnormalities of the nose, including three instances of marked flattening, one of absence, one of a proboscis, one of a single nostril, and one of a sunken appearance. There were two abnormally small chins. There was one marked cleft that involved the nose, lip, and palate. At least two fetuses with abnormal faces were missed entirely and coexistent facial abnormalities were missed in another three fetuses. Of the 11 fetuses with facial abnormalities identified, eight had other structural abnormalities as well, and the other three had either polyhydramnios or a history of teratogen exposure. A brief facial examination done as part of the fetal anatomy survey helps to identify abnormalities in high-risk fetuses but is considerably less productive in low-risk fetuses.

Abnormalities, Multiple↗
PubMed1980

Oral manifestations of the congenital insensitivity-to-pain syndrome.

The congenital insensitivity-to-pain syndrome is a sensory syndrome in which pain is impaired. It has been variably classified under a variety of terms, on occasion leading to some confusion. The condition is present at birth. The patient is usually, but not always, normal with respect to intelligence, development, and psychological adjustments. Other sensory perceptions are normal. Traumatic lesions as a result of self-mutilative acts are not uncommon, especially at an early age. The condition may not be apparent clinically until the time of initial tooth eruption. As the primary teeth erupt, the patient acquires the necessary apparatus for self-infliction of wounds to oral structures, skin, and fingernails. A case of congenital indifference to pain is presented, with clinical documentation of tooth-related problems occurring over a 2-year period and of the steps taken to correct or minimize the traumatic effects of chewing.

Humans↗
PubMed1980

Yellow mutant albinism: cytochemical, ultrastructural, and genetic characterization suggesting multiple allelism.

This report describes three sisters, including monozygotic (MZ) twins, with clinical, ultrastructural, and histochemical features typical of yellow mutant albinism; This form of albinism is clinically similar to the tyrosinase-positive type, but hair bulbs showed (1) organelles similar to red hair pheomelanosomes and (2) absence of tyrosinase activity. Classical tyrosinase-negative albinism was found in a maternal cousin of the probands. Pedigree analysis of this family suggests multiple alleles occupying a single locus.

Adult↗
PubMed1978

Amniotic fluid alpha-fetoprotein elevation with fetal omphalocele and a possible mechanism for its occurrence.

Prenatal diagnosis of genetic disease and congenital malformations has become a major area of study in obstetrics. The assessment of amniotic fluid alpha-fetoprotein (AFP) is useful for the diagnosis of neural tube defects. As more patients have been evaluated abnormal increases have been found in other defects, such as omphalocele, duodenal atresia, and congenital nephrosis. Two patients with omphalocele are reported with AFP measurement. A tenfold elevation of AFP was found in the first patient. In the second case a small omphalocele associated with exstrophy of the cloaca was not accompanied by an abnormal AFP increase. The mechanism of AFP elevation is discussed.

Adult↗
PubMed1978

The importance of accurate gestational age estimation in screening for fetal neural tube defects using maternal serum alpha-fetoprotein levels.

Estimates of gestational age based on menstrual history are often in error, often by as much as 4 weeks. The effect of this problem with respect to a screening program for neural tube defects based on maternal serum alpha-fetoprotein determination is examined. The variance of alpha-fetoprotein values for serum samples assigned to gestational age categories from 15 to 19 weeks of gestation based on menstrual history and that of samples classified according to sonographic estimates do not show clear-cut differences. However, when an individual sample is referred to a calibration curve of normal values, errors in gestational age estimates significantly increase the possibility of a false positive/false negative decision for high-level percentile classification. The effect of such an error is least at 16 to 17 weeks of gestation.

Amniocentesis↗
PubMed1976

Interstitial deletion of the long arm of chromosome no. 7 (7q-) in an infant with multiple anomalies.

An infant is reported with partial deletion of the long arm of chromosome no. 7. She presented with hypertonia, seizures, feeding difficulty, and multiple congenital anomalies. The abnormalities include low-set dysplastic ears, hypoplastic orbital bones, upslanting and small palpebral fissures, prominent cheeks with a relatively large mouth, micrognathia, abnormal creases of the hands and a congenital heart defect. With age her hypotonia and feeding difficulty have improved. Her mother has no detectable chromosome abnormality.

Abnormalities, Multiple↗
PubMed1975

Effects of freezing and thawing on certain properties of early gestation amniotic fluid.

The effects of repeated freezing and thawing. on certain properties of early gestation amniotic fluid were studied. Six anmiotic fluids from 15- to 17-week gestations were investigated. Total protein determinations revealed that there was no significant loss of total protein with rapid freezing and thawing up to 10 times in the space of a few days. Immunoelectrophoresis revealed that the antigenic properties of the amniotic fluid, as ascertained by counting the number of precipitin bands, were unaltered by the repeated freezing and thawing

Amniocentesis↗