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Biomedical subjects

B K Burton

Publications and source records attributed to B K Burton.

At least 19 recordsLinked to original sources
PubMed1992

Limb anomalies associated with chorionic villus sampling.

Data on outcome of pregnancy were obtained in 436 (94%) of 463 patients undergoing chorionic villus sampling (CVS) at Humana Hospital-Michael Reese between January 1, 1989 and November 30, 1990. There were 18 elective abortions, 27 fetal and neonatal losses, and 391 surviving infants. Of the 394 fetuses and infants who were adequately evaluated, a total of 13 (3.3%) had major congenital anomalies, including four with transverse limb reduction deformities, three with cleft lip with or without cleft palate, and one each with a nasal encephalocele, large port-wine stain, craniosynostosis, omphalocele with associated defects, ambiguous genitalia, and undescended testes. The limb malformations in the four affected infants were all very similar and were comparable to those described by others in association with CVS. Three of the cases of limb malformations followed transcervical CVS; one followed a transabdominal procedure. The procedures were performed at 9.5, 9.5, 10.5, and 11 weeks' gestation. An adequate sample was obtained with a single attempt in each case. These observations, in conjunction with others in the literature, suggest that there is an increased risk of limb anomalies associated with CVS. A vascular etiology, related to either decreased fetal perfusion or thrombosis of the sampling site with subsequent embolization, is suggested.

Chorionic Villi Sampling↗
PubMed1991

First report of management and outcome of pregnancies associated with hereditary orotic aciduria.

Two pregnancies in a 25-year-old woman with hereditary orotic aciduria who was managed prenatally on uridine therapy are described. The first pregnancy resulted in an infant with multiple congenital anomalies and a 47,xx,inv(4)(p12q25), +der(22)t(11;22)(p23;q11) karyotype. The proposita was found to be a carrier of a de novo 11;22 translocation and a pericentric inversion of chromosome 4. Subsequently, several carriers of orotic aciduria in this family were identified with the inverted chromosome 4. The second pregnancy resulted in a normal male with an inverted chromosome 4.

Abnormalities, Multiple↗
PubMed1991

45,X/47,XYY mosaicism: clinical discrepancy between prenatally and postnatally diagnosed cases.

45,X/47,XYY mosaicism is a rare chromosomal disorder with clinical information limited to 11 postnatal cases in the literature and with uncertainty regarding prenatal prediction of phenotype and prognosis. We report on 7 new cases of 45,X/47,XYY mosaicism, three detected prenatally and 4 diagnosed postnatally. A clinical comparison of the cases of 45,X/47,XYY mosaicism is presented together with a literature review.

Amniocentesis↗
PubMed1990

Risk of fetal chromosomal anomalies in patients with elevated maternal serum alpha-fetoprotein.

When elevated maternal serum alpha-fetoprotein (MSAFP) results lead to diagnostic amniocentesis, a decision of whether to karyotype fetal cells must be made. We examined our experience with MSAFP screening in 71,563 unselected pregnancies in which karyotyping was performed when amniocentesis was done because of MSAFP elevations. A total of 727 women (1.0%) underwent amniocentesis because of elevated MSAFP values and among this group, seven chromosomal anomalies (incidence one in 104) were detected. Of the 727 women, 658 (91%) had normal amniotic fluid AFP. In this group, there were six (one in 109) chromosomally abnormal fetuses: three with triploidy, two with 47,XXX, and one with 46,XX,1q-. Among the 69 pregnancies with elevated amniotic fluid AFP, one fetal chromosomal anomaly (trisomy 13) was diagnosed. The incidence of all chromosomal anomalies observed in women undergoing amniocentesis because of elevated MSAFP is comparable to that reported in women 36 years of age undergoing testing because of advanced maternal age. We believe that chromosome analysis should be performed on amniotic fluid samples obtained because of elevated MSAFP unless there are compelling financial circumstances that preclude this. Even in such cases, cell cultures should be established until the amniotic fluid AFP result is available. Chromosome analysis is essential when the amniotic fluid AFP is elevated because of the known association between open fetal defects (spina bifida, omphalocele, and scalp defects) and trisomies 13 and 18.

Adolescent↗
PubMed1990

Congenital nephrosis as a cause of elevated alpha-fetoprotein.

Two cases of congenital nephrosis were detected through routine maternal serum alpha-fetoprotein (MSAFP) screening of 95,135 patients. No other cases of congenital nephrosis from this group were reported, resulting in an incidence of approximately one in 47,500 in this low-risk population. In both of these cases, similar to other reported cases of congenital nephrosis having MSAFP screening, the protein concentrations were greater than or equal to 10 multiples of the median (MOM). Therefore, in the case of an MSAFP over 10 MOM and a normal ultrasound examination, congenital nephrosis should be included in counseling regarding the possibility of undetected malformations. Furthermore, in the case of a pregnancy with elevated amniotic fluid AFP with negative acetylcholinesterase and normal ultrasound, the possibility of congenital nephrosis should be mentioned, regardless of family history or ancestry. When a pregnancy is terminated because of these biochemical findings, special and immediate attention to the fetal kidneys using electron microscopy is necessary to evaluate properly the possibility of congenital nephrosis.

Female↗
PubMed1989

Nonketotic hyperglycinemia in a patient with the 9p- syndrome.

We describe a newborn infant with 9p- syndrome and nonketotic hyperglycinemia. This unusual occurrence may not have been coincidental and suggests that there may be a gene for nonketotic hyperglycinemia located on the short arm of chromosome 9.

Abnormalities, Multiple↗
PubMed1989

Translocation t(5;11)(q13.1;p13) associated with familial isolated aniridia.

A father and daughter with isolated aniridia were observed to have an apparently balanced, reciprocal translocation involving chromosomes 5 and 11 [t(5;11)(q13.1;p13)]. No other clinical characteristics often associated with the deletion of 11p13 were observed in this family. This finding, in association with 3 other instances of single breaks at 11p13 and aniridia, supports the assignment of AN2 to 11p13.

Aniridia↗
PubMed1989

Maternal serum alpha-fetoprotein screening.

Maternal serum alpha-fetoprotein screening should be offered to all patients as a routine component of prenatal care. The benefits of MSAFP screening have far exceeded early expectations. This technology not only provides an efficient and cost-effective method of screening for neural tube defects that is applicable to all pregnancies but also provides the physician with important information relevant to a number of other birth defects and complications of pregnancy. Our knowledge of variables affecting MSAFP levels measured during pregnancy is rapidly evolving, and further refinements in the application of MSAFP screening will almost certainly occur. Such refinements can serve only to extend the benefits of this new and very valuable technology in improving the health and well being of mothers and infants.

Chromosome Aberrations↗
PubMed1989

False-positive acetylcholinesterase with early amniocentesis.

Among 93 acetylcholinesterase determinations performed on amniotic fluid samples from pregnancies at 11-14 weeks' gestation, five unexplained false-positive results were observed. In four of the five cases, the ratio of acetylcholinesterase to pseudocholinesterase was compatible with that observed in association with open neural tube defects in later gestation. In contrast, no false-positive results were noted among 951 acetylcholinesterase determinations performed on samples from women at 15-20 weeks' gestation. Repeat amniocentesis was performed several weeks after the first procedure in four of the five cases of early amniocentesis and false-positive results; in each case, the acetylcholinesterase was negative on the second sample. All four pregnancies had a normal outcome. In the remaining case, trisomy 21 was diagnosed in the fetus and the pregnancy was terminated. Positive acetylcholinesterase results should be interpreted cautiously in samples from early amniocentesis, especially when the amniotic fluid alpha-fetoprotein level is not markedly elevated. The acetylcholinesterase-to-pseudocholinesterase ratio is not useful in identifying fetal neural tube defects before 15 weeks' gestation. Repeat amniocentesis may help in determining the significance of a positive acetylcholinesterase result from early amniocentesis when no fetal defect is identified by ultrasonography.

Acetylcholinesterase↗
PubMed1988

Elevated maternal serum alpha-fetoprotein (MSAFP): interpretation and follow-up.

Maternal serum alpha-fetoprotein screening should be offered to all patients as a routine component of prenatal care. The benefits of MSAFP screening have far exceeded early expectations. This technology not only provides an efficient and cost-effective method of screening for neural tube defects that is applicable to all pregnancies but also provides the physician with important information relevant to other complications of pregnancy. Our knowledge of variables affecting MSAFP levels measured during pregnancy is rapidly evolving and further refinements in the application of MSAFP screening will almost certainly occur. Such refinements can only serve to extend the benefits of this new and very valuable technology in improving the health and well-being of mothers and infants.

Algorithms↗
PubMed1988

Outcome of pregnancy in patients with unexplained elevated or low levels of maternal serum alpha-fetoprotein.

Data relating to the outcome of pregnancy were gathered prospectively on patients with elevations of maternal serum alpha-fetoprotein (MSAFP) or with unusually low MSAFP levels (0.25 or fewer multiples of the median) unexplained by ultrasonography. Patients with unexplained MSAFP elevations (2.5 or more multiples of the median, amniotic fluid AFP normal) exhibited a significantly increased incidence of fetal loss, low birth weight, neonatal death, and fetal congenital anomalies compared with controls with normal MSAFP. Patients with unexplained low levels of MSAFP had a significantly greater risk of fetal loss than controls, but there was no increase in the incidence of low birth weight, neonatal deaths, or congenital anomalies.

Birth Weight↗
PubMed1988

Open spina bifida: does cesarean section delivery improve prognosis?

Records were reviewed retrospectively on 72 infants with open spina bifida followed from birth through one year of age. Thirty-two infants were born by cesarean section and 40 vaginally. The following variables were compared between the two groups: 1) mortality in the nursery and between nursery discharge and one year of age, 2) incidence of meningitis in the neonatal period, 3) length of initial hospital stay, and 4) neurologic and developmental status at one year. No significant differences were noted between the two groups. Although it has been suggested that cesarean section may improve the prognosis for infants with open spina bifida, our data do not support that conclusion.

Cesarean Section↗
PubMed1987

Walker-Warburg syndrome with cleft lip and cleft palate in two sibs.

Two sibs are reported with Walker-Warburg syndrome including hydrocephalus, agyria, anterior chamber dysgenesis, and encephalocele. In addition, both had cleft lip and cleft palate and intrauterine growth retardation, findings not previously noted in this condition.

Abnormalities, Multiple↗
PubMed1987

Outcomes in patients with unusually high maternal serum alpha-fetoprotein levels.

In a study group of 166 patients with unusually high maternal serum alpha-fetoprotein values greater than or equal to 5 multiples of the median, 110 (66%) patients had a condition affecting obstetric care compared with 14% in the 2.5 to 2.9 range, 26% in the 3.0 to 3.9 range, and 30% in the 4 to 4.9 range of multiples of median. Fetal anomalies composed a significantly greater proportion (p less than 0.0001) of positive findings in the study group than the group with maternal serum alpha-fetoprotein values of greater than or equal to 2.5 to 4.9 multiples of the median. Fetal death either before 20 weeks or of one twin occurred significantly more often in the study group (p less than 0.0001). Neural tube defects (21%) and fetal death before 20 weeks (19%) were the most common findings in the study group. There was not a statistically significant difference (p less than 0.53) in pregnancy complications or in late complications between the two groups although oligohydramnios and abdominal pregnancies occurred more often in the study group (p less than 0.029 and less than 0.011). Diagnosticians evaluating patients with unusually elevated maternal serum alpha-fetoprotein values must be aware of the usual differential diagnosis as well as rarer causes. One must recognize that finding an unaffected fetus does not preclude the subsequent development of a pregnancy complication.

Female↗
PubMed1987

Elevated maternal serum alpha-fetoprotein levels and oligohydramnios: poor prognosis for pregnancy outcome.

The outcome of 21 pregnancies with elevated maternal serum alpha-fetoprotein levels associated with oligohydramnios was studied. Seven of the 21 pregnancies ended in spontaneous abortion or intrauterine fetal death before week 24 of pregnancy. Five patients experienced premature labor between 24 and 26 weeks of gestation; each fetus was either stillborn or died in the immediate neonatal period. Four patients were delivered of infants after 32 weeks of gestation; each infant was either stillborn or died in the immediate neonatal period. Four patients electively had their pregnancies terminated. One patient was delivered at term of a healthy, growth retarded male infant who on follow-up at age 17 months was developmentally normal. Only three cases were associated with a fetal defect. Patients should be counseled that, even in the absence of a demonstrable cause for diminished amniotic fluid on ultrasonography, raised maternal serum alpha-fetoprotein levels coupled with oligohydramnios seem to carry a poor prognosis.

Amniotic Fluid↗