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Biomedical subjects

R J Wapner

Publications and source records attributed to R J Wapner.

105 records · Page 6Linked to original sources

Brief clinical report: not all cystic hygromas occur in the Ullrich-Turner syndrome.

We report two sib fetuses with nuchal systic hygroma and cleft palate. This condition is probably recessively inherited as the parents have normal chromosomes (G-banded) and the fetuses were of opposite sex. Nuchal cystic hygroma is a nonspecific malformation, which reflects a delay in development of the connection between the jugular lymph sacs and the internal jugular vein. This fetal malformation and its equivalent in the adult, neck webbing, has been reported to be a part of a variety of genetic malformation syndromes. Some suggestions for counseling parents of an affected fetus are made: If the chromosome karyotype of an affected fetus is unknown, ultrasound examination, rather than AFP studies, is suggested for future pregnancies.

Adult↗

Real-time ultrasonographic evaluation of normal fetal adrenal glands.

Using real-time ultrasonography, the normal fetal adrenal glands can be consistently imaged after 30 weeks of gestational life. It was found that the normal fetal adrenals had specific size, shape, and echogenicity and could be consistently separated from the adjacent kidneys. The long axis of the adrenal gland had a range of 14 to 22 mm, compared with a range of renal lengths of 27 to 42 mm, with a ratio of the long axes of fetal adrenal to fetal kidney of .48 to .66. These figures compare favorably with dimensions of the adrenals and kidneys found in newborn autopsies. Since certain in utero abnormalities change the size and shape of normal fetal adrenal glands, these data should serve as a reference to evaluate adrenal disturbances. In addition, it would be expected that failure to image either the kidney or adrenal gland after 30 weeks would strongly imply abnormality in that gland.

Adrenal Glands↗

Renal agenesis: spectrum in utero findings.

Three cases of renal agenesis are presented, representing the spectrum of abnormality seen in utero. Severe oligohydramnios was seen in all three cases. In two cases ultrasound demonstrated fetal paraspinal structures resembling kidneys, while in the third no renal shapes were identified. The urinary bladder could not be imaged in any of the cases. Autopsy findings demonstrated that the reniform structures represented only fetal adrenal glands of varying sizes. It is suggested that the examination of the renal tract in severe oligohydramnios should be directed toward the fetal urinary bladder, because the identification of reniform outlines can be misleading.

Adult↗

Ultrasonographic parameters in the prenatal diagnosis of Meckel syndrome.

The ability to make a prenatal diagnosis of Meckel syndrome (encephalocele, polydactyly, and polycystic kidney) by ultrasound is described. Three cases are detailed; in 2 of these the diagnosis was made at 18 and 36 weeks' gestation, respectively. In case 1 Meckel syndrome was identified by the presence of oligohydramnios, microcephaly, and enlarged cerebral ventricles. In case 2 oligohydramnios was associated with an encephalocele, bilateral renal enlargement, and a polydactyly. In case 3 the diagnosis was excluded in a fetus at risk. The usefulness of ultrasound in making this diagnosis is discussed for cases in which the amniotic fluid alpha-fetoprotein value is normal, inconclusive, or unobtainable.

Abnormalities, Multiple↗

Ultrasound criteria for in utero diagnosis of microcephaly.

Microcephaly (small head) is clinically important only if there is concomitant micrencephaly (small brain). Extensive studies on patients in mental institutions have shown that there is close correlation among microcephaly, micrencephaly, and mental retardation when the head is more than three standard deviations below the norm. If the small head is less than two standard deviations below the norm, no strong correlation exists with eigher small brain or mental retardation. High-resolution ultrasound permits imaging of the fetal head in utero, allowing accurate evaluation of head size and detection of intracranial anomalies. The microcephalics detected in utero over a 2-year period form the basis of this series, showing close correlation with the known clinical data on children with microcephaly. An approach to ultrasound detection and evaluation of fetal microcephaly is proposed.

Female↗

Analysis of biparietal diameter as an accurate indicator of gestational age.

To date, there have been 25 studies attempting to correlate biparietal diameter and gestational age; of these, 17 meet specific criteria and thus are included in this evaluation. Although all studies have shown an increase in biparietal diameter with advancing gestational age, between 17 wk and term there is a discrepancy of approximately 3 wk. In this evaluation the charts are compared and the variations analyzed. An ideal table is constructed by combining the mean gestational age, calculated from a statistical analysis, and the variation at each millimeter point, determined by comparison of all the studies. It is hoped that this new 90% composite table, which consists of a range of gestational ages in weeks for each biparietal diameter, will not only provide more realistic indications of fetal age but also will serve as a reminder to sonographers, obstetricians, and patients of the relative accuracy and variations of biparietal diameter measurements.

Cephalometry↗

Maternal outcome in class H diabetes mellitus.

The term class H diabetes mellitus has recently been used to describe pregnant diabetic women with ischemic heart disease. In such patients, the risks of abortion may approach those of continuing the gestation. Because significant cardiac disease can occur with diabetes of even recent onset, a baseline electrocardiogram is thus recommended for all pregnant diabetic women. Review of the literature reveals 11 cases, 8 of which resulted in maternal death. The authors have successfully treated a class H diabetic woman who delivered a healthy infant at 36 weeks' gestation.

Adult↗

International, collaborative experience of 1789 patients having multifetal pregnancy reduction: a plateauing of risks and outcomes.

OBJECTIVE: To develop the most up-to-date, complete data base of multifetal pregnancy reduction (MFPR) from cases, and to provide the best counseling for couples with multifetal pregnancies. METHODS: From nine centers in five countries, 1789 completed MFPR cases were collected and outcomes evaluated. Pregnancy losses were defined as through 24 weeks and deliveries categorized in groups of 25-28, 29-32, 33-36, and 37 or more weeks. RESULTS: Overall, the pregnancy loss rate was 11.7% but varied from a low of 7.6% for triplets to twins and increased with each additional starting number to 22.9% for sextuplets or higher. Early premature deliveries (25-28 weeks) were 4.5% and varied with starting number. Loss rates by finishing number were highest for triplets and lowest for twins, but gestational age at delivery was highest for singletons. CONCLUSIONS: Multifetal pregnancy reduction has been shown to be a safe and effective method to improve outcome in multifetal pregnancies. Outcomes are worse with higher-order gestations and support the need for continued vigilance of fertility therapy.

Abortion, Spontaneous↗

Accuracy of prenatal diagnosis of congenital heart defects.

OBJECTIVES: (1) To evaluate the detection and accuracy of fetal echocardiography for congenital heart defects (CHD). (2) To compare the detection and accuracy of a team of maternal fetal medicine specialists and radiologists (MFM/R) with those of perinatal cardiologists (PC). METHODS: All fetal echocardiograms performed from 1/91 to 6/95 were reviewed retrospectively. CHD diagnoses made prenatally were compared with postnatally-confirmed diagnoses. RESULTS: 106 heat defects were correctly detected prenatally. There were 10 incorrect diagnoses, 6 false-negatives and 4 false-positives. Overall detection rate (sensitivity) was 95%, while overall accuracy was 87%. Detection rate for MFM/R and PC were 91 and 97%, respectively (p = 0.4). Accuracy was 74% for MFM/R and 92% for PC (p = 0.02). CONCLUSIONS: CHD can be identified reliably by prenatal echocardiography. The involvement of a PC in the prenatal diagnosis of these defects may improve diagnostic accuracy.

False Negative Reactions↗

Congenital diaphragmatic hernia: prognosis and prenatal detection.

Fifty consecutive cases of isolated congenital diaphragmatic hernia were reviewed for prenatal ultrasound and neonatal physical findings. These were compared to survival and the need for extracorporeal membrane oxygenation (ECMO). No prenatal findings predicted survival or the need for ECMO. In left-sided hernias, the presence of the liver in the chest predicted (p = 0.02) the requirement for ECMO. In a cohort of 13 prenatally diagnosed inborn cases, the ultrasound triad of polyhydramnios, mediastinal shift and intrathoracic stomach predicted the presence of liver in the chest (p < 0.03).

Extracorporeal Membrane Oxygenation↗

The new genetic era in reproductive medicine: possibilities, probabilities and problems.

The "New Genetic Era" will be a period of enormous exponential growth in our knowledge of the structure and function of the basic information blocks of life. The Human Genome Project will soon provide a complete and accurate sequence of the human genome. This will give us an abundance of basic genetic knowledge and provide a molecular understanding of disease, allowing for improved diagnosis and more sensitive and specific screening for disease. This will, we hope, lead to better treatments, prevention and cures through gene therapy, patient-specific drug design, and earlier and more specific behavioral interventions to prevent disease. With this information comes a complexity of legal, ethical and social concerns about potential use and abuse. The public has expressed its concerns about the potential for genetic discrimination. However, genetic information is enhancing our knowledge as to the causes of infertility, allowing diagnosis of more diseases in the prenatal period, and may aid our identification of patients at increased risk for breast and ovarian cancer. Doctors involved in reproductive medicine must become knowledgeable about the new genetic era so as to offer our patients the most appropriate and informed care.

Cloning, Organism↗