Biomedical subjects

N C Rose

Publications and source records attributed to N C Rose.

24 records · Page 2Linked to original sources

PubMed1991

Interstitial deletion of 4(q21q25) in a liveborn male.

We describe a liveborn male with a de novo deletion of 4(q21q25). The findings in this infant are compared with those of other 4q interstitial deletion patients with similar break-points. Given the reproducible findings including skull asymmetry, cardiac defects, renal cysts, "butterfly" vertebrae, as well as a particular dysmorphic face with developmental delay, there is evidence for an interstitial 4q deletion syndrome.

Abnormalities, Multiple↗

PubMed1991

Self-rated physical activity level during the second trimester and pregnancy outcome.

To examine the relationship between level of physical activity during pregnancy and subsequent pregnancy outcome, we asked women enrolling for maternal serum alpha-fetoprotein (MSAFP) screening in Maine during the years 1984-1988 to rate their usual physical activity level as light, moderate, or vigorous. Overall, 23,091 women were approached and 21,342 (92%) responded. Ten percent rated their physical activity level as light, 84% as moderate, and 6% as vigorous. Those who identified their physical activity level as vigorous were, on average, slightly older and more educated, and weighted less than women in the other two categories. However, there were no significant differences in the rates of low birth weight or fetal or neonatal death.

Adult↗

PubMed1985

Discordant amniotic band sequence in monozygotic twins.

Multiple congenital anomalies were identified at 16 weeks gestation in one fetus of an unsuspected twin pregnancy while ultrasound examination was performed before routine genetic amniocentesis. Further sonographic studies documented the amniotic band sequence (ABS) and transient oligohydramnios in the affected fetus. The latter finding supports the theory of amnion rupture followed by amniotic fluid leakage through an ineffective chorion barrier as the pathogenesis of compression related anomalies in this syndrome. Extensive craniofacial involvement including hydrocephalus, encephalocele, and multiple facial clefts in the affected fetus, combined with an erroneous ultrasound diagnosis of ABS in the unaffected twin, created an extremely difficult management and counseling situation. A review of ABS, the embryology of placental membrane development, and a discussion of selective termination procedures are presented.

Adult↗

PubMedDate not supplied

Prenatal characteristics of congenital nephrosis: results of a survey.

The purpose of this study was to evaluate the prenatal characteristics of congenital nephrosis of the Finnish type (CNF). Patients presenting with elevated maternal serum and/or amniotic fluid alpha-fetoprotein levels, normal ultrasound examinations and normal fetal karyotypes were included. A retrospective cohort study was conducted using questionnaires sent to all board certified clinical geneticists. Perinatal outcome, including histologic verification of CNF, was obtained. Forty index cases met the above criteria. Ten cases ultimately did not have the diagnosis of CNF, with a median MSAFP level of 7.59 MoM (range 2.7-27.64 MoM) and a median AFAFP level of 10.99 MoM (range 1.47-128.6 MoM). In the affected cohort of index pregnancies, the initial median MSAFP level was 14.49 MoM (range 3.1-38.0 MoM); the median AFAFP level was 40.0 MoM (range 2.4-80.9). MSAFP and AFAFP levels may be lower than previously recognized in patients carrying fetuses with CNF. There is significant overlap between the affected and unaffected patients.

Female↗

PubMedDate not supplied

Prenatal presentation of congenital chloride diarrhea: clinical report and review of the literature.

A case of congenital chloride diarrhea was diagnosed after delivery in a patient whose antenatal course was notable for massively dilated small and large bowel and persistent, severe hydramnios refractory to therapy. The pathophysiologic mechanism is a dysfunctional chloride-bicarbonate exchange in the brush border of the ileum. Antenatal presentation, prenatal diagnosis, and a review of the current literature are discussed.

Adult↗

PubMedDate not supplied

The single ventricle heart in the fetus: accuracy of prenatal diagnosis and outcome.

OBJECTIVES: The purpose of this study was to determine the diagnostic accuracy of fetal echocardiography in evaluating anatomic details of the single ventricle heart and the outcome of fetuses diagnosed with this anomaly. STUDY DESIGN: This is a retrospective study of 57 fetuses in which the results of fetal echocardiography were compared with the diagnoses at postnatal echocardiography, and postnatal surgical outcome was reviewed. RESULTS: Diagnostic accuracy was present in predicting morphology of the predominant ventricle, visceral situs, presence of pulmonary or aortic outflow tract obstruction, and presence of obstructed pulmonary venous outflow (sensitivity 100%). However, the ability to predict for a ductal dependent pulmonary circulation was poor (sensitivity 63%). Errors were made in the fetal assessment of ventricular size and viability such that in three cases, postnatal plans were altered toward a two-ventricular intervention. Of the 57 fetuses, intervention was elected in 37 (75%). Termination or nonintervention was elected in 14, and and 6 died before intervention. Of those operated on, 71% are presently alive after various stages of intervention. CONCLUSIONS: Accurate diagnosis of the fetal single ventricle heart is possible, and outcome is improving. Caution must be used in judging ventricular size and in predicting ductal dependent pulmonary circulation.

Echocardiography↗