Midtrimester genetic amniocentesis with simultaneous ultrasound guidance.
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Biomedical subjects
Publications and source records attributed to R R Lenke.
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Recent court decisions and advances in medical technology have put the doctor in the position of serving many masters at the same time. The conflicts created often do not deal with good or bad medicine, but rather with the concept of alternative choices. It is unfair to ask the medical field to be solely responsible for making decisions involving such widespread social and economic consequences.
Simultaneous ultrasound was used to determine if there was a correlation between visualized intraamniotic bleeding, placental location, and fetal-maternal hemorrhage. It was hoped to then determine which Rh-negative patients should receive Rh immunoglobulin. Visualized intraamniotic bleeding showed no correlation to fetal-maternal hemorrhage. Intraamniotic bleeding was commonly associated with needle insertion through an anterior placenta, but also occurred regardless of placental location and in the absence of placental needle traversal. No correlation was found between placental location and fetal-maternal hemorrhage as evidenced by evaluation of maternal serum alpha-fetoprotein. The Kleihauer test was not as sensitive as alpha-fetoprotein.
A 27-week fetus with severe nonimmune hydrops was found to have a reciprocating atrioventricular tachycardia with the rate of 275 beats per minute. Maternal digitalization produced improvement without conversion. Large doses of propranolol were without effect. Twelve days later quinidine was added, and conversion to sinus rhythm occurred after only two hours and persisted to term. The infant has no heart disease. Literature review confirms digoxin as the first choice for treatment of fetal reciprocating tachycardia, with excellent transplacental passage. Propranolol has not been demonstrably effective, and has poor placental passage. Verapamil also produced poor cord blood levels in two trials. Placental passage for procainamide is uncertain, but long-term use has been unsatisfactory. Quinidine is recommended as the second drug for treatment of resistant fetal tachyrhythmias.
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Intrapartum death of a normal fetus is rare and usually is preceded by an ominous fetal heart rate pattern. The sudden, unexpected intrapartum death of a monitored premature fetus occurred in a woman being treated for premature labor with betamethasone and terbutaline. The cause of the event has remained obscure.
A total of 1312 nonstress tests were performed in the 14-month period between May 1, 1981, and June 30, 1982. There were 323 tests in 194 patients that were nonreactive and subsequently required a contraction stress test using nipple stimulation. The authors found that the results obtained using nipple stimulation were as predictable as contraction stress tests using oxytocin infusion.
It has been advocated that if a patient develops acute pyelonephritis during pregnancy, she should receive suppressive therapy for the remainder of the gestation to prevent a recurrence of the disease. We have prospectively evaluated 200 patients following an acute episode of pyelonephritis during pregnancy. All patients were followed in a special clinic. Half the patients received nitrofurantoin as suppressive therapy. Recurrent pyelonephritis occurred in 7% of the patients receiving suppressive therapy versus 8% of those patients receiving close surveillance in the clinic. The results cast doubt upon the need for suppressive therapy and instead dramatized the beneficial effects of close surveillance with cultures. The data also suggest, at least in a high-risk population, that patients with gram-negative bacilluria of less than 10(5) colonies/ml may have a substantial risk of developing symptomatic recurrences. Prompt treatment of even low levels of gram-negative bacilluria should be considered in patients at risk for recurrent disease.
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A woman with classical phenylketonuria (PKU) adhered poorly to a phenylalanine-restricted diet but did receive tyrosine supplementation from the 14th week of gestation until delivery. At birth the infant demonstrated a head circumference more than two standard deviations below the mean but at 2 years of age had a development quotient (DQ) of 94. This case illustrates the fact that while single case reports may be of value in disproving a theory, they are not sufficient to prove an association because biologic variation may explain one's results. Thus, while tyrosine supplementation may explain the relatively normal DQ, the results are also compatible with the moderate degree of phenylalanine restriction obtained. Current evidence favors the elevated maternal phenylalanine level as the cause of defects in offspring of women with PKU, but tyrosine supplementation should be considered if the level is subnormal.
Untreated maternal phenylketonuria (PKU) may result in nonphenylketonuric offspring with mental retardation, microcephaly, congenital heart disease, and low birth weight. We obtained information about 34 pregnancies in which dietary therapy was instituted to lower the concentration of phenylalanine in maternal blood in an attempt to avoid fetal damage. The outcomes varied from mental normality with no evidence of fetal effect to neonatal death due to congenital heart disease. Dietary therapy with control of the maternal biochemical abnormalities is not yet of proved efficacy in preventing these fetal effects. The available data tend to support initiation of dietary therapy prior to conception for best results, but the number of cases is small and points to the need for further research.
The efficacy of the nitrite dipstick and microscopic urinalysis in predicting culture results were evaluated for 146 urine cultures from 56 women at risk for recurrent pyelonephritis. There were 111 negative cultures, 18 positive cultures, and 17 contaminated cultures. Nitrites were not detectable in either negative or contaminated cultures. Bacilluria was present in 10% of negative cultures and in 18% of contaminated cultures. Pyuria was present in 14% of negative and in 24% of contaminated cultures. Among the 18 positive cultures, nitrite was present in only 22%, bacilluria in only 61%, and pyuria in only 67%. These results suggest that positive cultures cannot be accurately predicted by either microscopic urinalysis or the nitrite dipstick, and that routine culturing should be performed as part of the outpatient management of women at risk for recurrent pyelonephritis.
Since many women with phenylketonuria (PKU) will have children of their own, we were interested in ascertaining the effect of maternal PKU and hyperphenylalaninemia on the offspring of such women. We reviewed the literature on this subject and obtained additional unpublished data through an international survey. Data were collected on 524 pregnancies in 155 women; in 34 pregnancies a low-phenylalanine diet was begun after or shortly before pregnancy was established. Among untreated pregnancies, the frequencies of mental retardation, microcephaly, and congenital heart disease were greatly increased over those in the normal population, and these increases correlated with the mother's blood levels of phenylalanine. Ninety-five per cent of mothers with blood phenylalanine concentrations of 20 mg per deciliter or higher had at least one mentally retarded child. Bias introduced by case-finding methods cannot explain these results. It is not clear from our review whether dietary treatment begun after conception is helpful, but treatment begun before conception should be evaluated.
The American College of Obstetricians and Gynecologists has recommended that when using biochemical screening for Down syndrome, the cut-off selected for counseling the patient should be consistent with the Down syndrome risk at which the obstetrician routinely offers prenatal cytogenetic diagnosis on the basis of maternal age alone. They also state that multiple marker testing in women over the age of 35 years cannot be recommended for routine Down syndrome screening as an equivalent alternative to offering prenatal cytogenetic diagnosis. The American College of Medical Genetics has issued similar statements. We wanted to determine current practices in regard to these suggestions. A questionnaire was mailed to members of the Society of Perinatal Obstetricians asking: (1) At what maternal age do they offer counseling/amniocentesis? (2) Do they adhere to the Colleges' recommendations with regard to counseling/amniocentesis? (3) Do they change the risk for women age 35 years or over based on serum screening? Results showed that (1) Most members currently identify attaining the age of 35 years as a separate risk factor. (2) There were wide variations in the risk quoted for women 35 years old. (3) Many members used a different risk for their biochemical screening cut-off. (4) 74% of the members would increase the age-related risk for women over 35 years based on serum screening and 49% would decrease this risk based on serum screening. Among members, there were wide variations in the risks quoted; the biochemical screening cut-off used; and the use of serum screening in women over the age of 35 years.