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Biomedical subjects

N C Rose

Publications and source records attributed to N C Rose.

At least 19 recordsLinked to original sources
PubMed1998

Diagnosis and management of fetal nuchal translucency.

Fetal nuchal translucency can be measured in most pregnant women in the first and early second trimester. The size of translucency varies slightly with gestational age and crown rump length and is independent of maternal age. Most authors have used a nuchal thickness of > or = 2.5 mm or > or = 3 mm to define abnormal, although some have suggested that the normal variation with gestation requires that different thresholds be used at different gestational ages. The accuracy of nuchal translucency measurement varies between examiners and between patients, likely in relation to examiner skill and image resolution. The small size of a nuchal translucency, less than 3 mm in most cases, probably approximates the threshold of normal interexaminer and intraexaminer variability. The presence of a thickened nuchal translucency is associated with chromosomal abnormality and perhaps with structural abnormality even when the karyotype is normal. Because of the reported variations in the populations studied, the methods used, and the results of screening, it is inappropriate at this time to assign a numeric risk to any individual patient with this finding. However, in both high-risk and low-risk groups, the positive predictive value appears to be high enough that patients with increased nuchal translucency should be counseled by their obstetrician and prenatal diagnostic testing should be offered. Because early genetic diagnosis by CVS has a substantially higher procedure-associated loss rate than amniocentesis in the second trimester, many patients may elect to wait for chromosomal testing. If so, disappearance of nuchal thickening should not be taken as reassurance. As a screening test to be widely applied to a general or low-risk population, the utility of fetal nuchal translucency measurement is uncertain. The reported sensitivity for identification of trisomy 21 has ranged from about 40% to 80%, and the sensitivity for identification of other aneuploidies may be lower than for Down's syndrome. From a cost-risk-benefit standpoint, universal first-trimester ultrasound screening has not been appropriately compared with standard risk assessment using maternal age and multiple-marker serum screening, with amniocentesis as the predominant diagnostic method. Also, the issues of availability and reimbursement have not been addressed. Currently, measurement of nuchal translucency is not a substitute for the standard of obstetrical care, which is to offer multiple-marker serum screening to every pregnant woman at 15 to 20 weeks. Similarly, it is inappropriate to substitute nuchal translucency measurement for genetic counseling and CVS or amniocentesis in women above 35 years of age or those with a significant positive history. Finally, the data are not clear as to whether a normal nuchal translucency decreases the likelihood of chromosomal abnormality in a high-risk population, and such women should not be discouraged from invasive testing because of a normal first-trimester ultrasound study. The data supporting the association between thickened nuchal transluency and chromosomal abnormality are compelling, but further study is needed before adopting routine nuchal translucency screening. Combining first-trimester ultrasonography with early serum screening is currently being investigated and may ultimately prove to be the most efficient means of screening for chromosomal anomaly.

Aneuploidy↗
PubMed1998

An evaluation of the Factor V Leiden mutation in a cohort of African-American pregnant women.

The objective of this work was to study the prevalence of the Factor V Leiden mutation in an obstetrical clinic largely comprised of African-American women. A cross-sectional study was performed evaluating a total of 231 consecutive women of African-American origin. Of these patients, 21 were considered at high risk for thrombosis, but none was found to carry the mutation. One patient (0.4 per cent) of the total was heterozygous for the Factor V Leiden mutation. African-American women do not appear to be at an increased risk of being heterozygous or homozygous for the Leiden mutation. This low prevalence may be confounded by ascertainment bias in a population of pregnant women.

Black People↗
PubMed1997

Maternal serum analyte levels in pregnancies with fetal Down syndrome resulting from translocations.

OBJECTIVE: Our purpose was to determine whether pregnancies affected by fetal Down syndrome resulting from Robertsonian translocations are associated with second-trimester maternal serum analyte levels different from those resulting from fetal trisomy 21. STUDY DESIGN: Pregnancies with Down syndrome caused by Robertsonian translocations were identified through the cytogenetics laboratories at the participating institutions. Those with maternal serum screening values between 15 and 20 weeks were evaluated. RESULTS: Eleven cases of fetal Down syndrome caused by Robertsonian translocations were identified. The median alpha-fetoprotein, unconjugated estriol, and human chorionic gonadotropin levels were 0.68, 0.67, and 2.83 multiples of the median, respectively. These analyte levels are similar to those for fetal trisomy 21. CONCLUSIONS: These data suggest that Down syndrome resulting from either Robertsonian translocations or trisomy 21 will be detected in a similar percentage of cases because the second-trimester maternal serum analyte levels are similar.

Adult↗
PubMed1997

Prenatal analysis of rhesus CcDEe blood groups by heteroduplex generator.

OBJECTIVE: Our purpose was to determine the efficacy of the heteroduplex generator in the prenatal analysis of rhesus CcDEe blood groups. STUDY DESIGN: A cross-sectional study was performed evaluating fetal samples from 85 women undergoing prenatal diagnosis and comparing the results with standard immunologic serotyping on cord blood delivery. RESULTS: Of the 85 samples, 64 were tested, for all CcDEe alleles: one case was discrepant. Twenty-one cases were tested solely for the D antigen. Two novel genotypes were detected in the population by heteroduplex generator and confirmed by deoxyribonucleic acid sequencing. Five cases were indeterminate because of an indistinct banding pattern. CONCLUSIONS: Heteroduplex analysis can identify rhesus blood group alleles and is inexpensive, rapid, and does not use radioactive isotopes.

Alleles↗
PubMed1997

The seroprevalence of the rubeola antibody in a prenatal screening program.

OBJECTIVE: To evaluate the seroprevalence of the rubeola (measles) antibody in several obstetric populations. METHODS: In this cross-sectional study, women presenting for prenatal care underwent measurement of antibodies to the rubeola virus. The study population presented for care at either an urban medical center (group I) or a suburban medical center (group II). These groups were divided further into those receiving care in a resident-supervised clinic (A) and those in a private-practice setting (B). RESULTS: A total of 768 women were tested. Seventy-five (9.8%) women had rubeola antibody titers less than or equal to 0.13 and were classified as seronegative. The lowest percentage of seronegative women (3.2%) was found at the urban resident-supervised clinic site. The highest percentage of seronegative women (20.5%) was found in the suburban resident-supervised clinic site. Women classified as seronegative were younger, with a mean age of 25.0 years. No significant difference was observed based on gravidity, parity, or care received in an urban versus suburban private-practice setting. CONCLUSION: We suggest that an appreciable number of women presenting for prenatal care may lack antibodies to the rubeola virus. In the interest of personal and public health, populations believed to be at risk may benefit from ongoing surveillance of immune status and appropriate vaccination. Additional study is necessary to define best those groups that would benefit from surveillance and vaccination.

Adult↗
PubMed1996

Prenatal diagnosis of a chest wall hamartoma and sternal cleft.

We present the prenatal evaluation and diagnosis of a disorganized chest wall hamartoma with underlying sternal cleft in a family with a prior offspring with the VATER association. The possibility that these conditions are linked to mesodermal defects with a common pathogenic etiology is suggested.

Adult↗
PubMed1996

Tuberculosis: current implications and management in obstetrics.

After years of decline, tuberculosis has again emerged as a serious public health issue. Following the introduction of effective chemotherapy at mid-century, cases of tuberculosis decreased until 1986. Since that time, the number of cases of tuberculosis have dramatically increased, particularly among young persons. The reemergence of tuberculosis is localized to urban areas and is linked to the increase in the incidence of human immunodeficiency virus infection and drug resistance. Since pregnant women are at risk for tubercular infection, an effective method exists to identify women who are asymptomatically infected, provide them with treatment to prevent progression of disease, and investigate their contacts. This review will discuss the issues of diagnosis and treatment of asymptomatic infection and active tuberculosis in pregnant women. Additionally, the need for universal screening of all prenatal patients and the benefit and potential perinatal toxicity of chemotherapy in both immunocompetent patients and those infected with human immunodeficiency virus will be addressed.

Drug Resistance, Microbial↗
PubMed1996

Heteroduplex generator in analysis of Rh blood group alleles.

We describe the use of heteroduplex analysis to enhance the resolution of different rhesus-derived (Rh) isotypes. Heteroduplex analysis of different domains of the Rh D and Rh CE loci can be performed to diagnose a variety of blood group incompatibilities. One application of this technique is the ability to test for fetal-maternal blood group incompatibilities during pregnancy. Several new serotype-specific sequence variations were discovered in the mapping of the Rh locus, and used in the construction of artificial heteroduplex generators (HGs). HGs facilitate the resolution of the Rh isotypes by electrophoretic methods.

Alleles↗
PubMed1995

Kasabach-Merritt coagulopathy complicating Klippel-Trenaunay-Weber syndrome in pregnancy.

BACKGROUND: Klippel-Trenaunay-Weber syndrome is a sporadic genetic syndrome characterized by localized hemangiomas, venous varicosities, and asymmetric osseous hypertrophy of the ipsilateral extremities. Most commonly seen in association with hemangiomas, Kasabach-Merritt syndrome is defined by the presence of thrombocytopenia and a consumptive coagulopathy. CASE: A 22-year-old primigravida with a prior diagnosis of Klippel-Trenaunay-Weber syndrome presented for genetic counseling and delivery management at 37 weeks' gestation. Large varicosities of the vulva required cesarean delivery. Multiple hemangiomas in the right lower quadrant of the abdomen necessitated the use of a left paramedian cutaneous incision. The patient subsequently developed Kasabach-Merritt syndrome and required the transfusion of blood products as well as heparin and aminocaproic acid therapy for her postoperative management. CONCLUSION: Klippel-Trenaunay-Weber syndrome in pregnancy is rare. The potential for a refractory coagulopathy presenting as Kasabach-Merritt syndrome should be considered in any patient who presents with extensive hemangiomas.

Apgar Score↗
PubMed1995

Periconceptional folic acid supplementation as a social intervention.

Periconceptional folic acid supplementation has been shown to decrease the first occurrence of isolated neural tube defects (NTDs) by as much as 50%, and to decrease the recurrence risk for NTDs by more than 70%. The possible mechanisms of vitamin supplementation in the prevention of NTDs are discussed, as are the current recommendations for reproductive-age women. Further, the limitations of dietary and pharmacological recommendations with regard to patient compliance as well as the possibility of grain fortification are reviewed.

Diet↗
PubMed1994

Second-trimester diurnal variation of maternal serum alpha-fetoprotein, human chorionic gonadotropin, and unconjugated oestriol: is it present and does it affect the prediction of a patient's risk for fetal Down syndrome?

Both a cross-sectional and a longitudinal study were performed to investigate whether or not the collection time should be taken into consideration when generating a patient's risk for fetal Down syndrome with multiple marker screening. Diurnal variations of third-trimester alpha-fetoprotein (AFP) levels and first-trimester human chorionic gonadotropin (hCG) levels have been previously reported. In addition, large episodic fluctuations of conjugated and unconjugated oestriol (uE3) as well as a diurnal variation have also been reported in the third trimester. If the levels of these analytes routinely fluctuate during the day, they could affect a patient's risk calculation for fetal Down syndrome. The longitudinal study evaluated ten non-diabetic women who underwent sequential sampling for AFP, hCG, and uE3. The cross-sectional study evaluated 1953 patients for these three markers whose time of sampling was recorded between 8.00 a.m. and 5.59 p.m. Using either study design, no significant effect was seen in the median MOM levels of the screening analytes as a function of the time of day.

Biomarkers↗
PubMed1994

Maternal serum alpha-fetoprotein screening for chromosomal abnormalities: a prospective study in women aged 35 and older.

OBJECTIVE: Our purpose was to determine the detection and false-positive rates for maternal serum alpha-fetoprotein measurement to screen for fetal Down syndrome and other chromosomal abnormalities in women > or = 35 years old. STUDY DESIGN: A total of 3896 women had serum maternal serum alpha-fetoprotein levels measured routinely before amniocentesis for the indication of advanced maternal age. RESULTS: Eighty-five percent (28/33) of fetal Down syndrome pregnancies had second-trimester risks of > or = 1:270 on the basis of a combination of maternal serum alpha-fetoprotein measurement and maternal age. Risks were also > or = 1:270 in 63% of the unaffected pregnancies. Sex chromosome aneuploidies, translocations, and other nonautosomal chromosome abnormalities in this study population were not associated with altered maternal serum alpha-fetoprotein levels; 51.9% (14/27) of these, however, were also assigned risks of > or = 1:270. CONCLUSIONS: Maternal serum alpha-fetoprotein screening is more accurate than age alone for assigning individual Down syndrome risk in pregnant women > or = 35 years old. Counseling for women in this age group should include information regarding the lower sensitivity of maternal serum alpha-fetoprotein screening for detecting fetal Down syndrome and other chromosomal abnormalities (especially sex chromosome aneuploidies) compared with offering amniocentesis to these women.

Adult↗
PubMed1993

Maternal serum screening for neural tube defects and fetal chromosome abnormalities.

Second-trimester maternal serum screening is a noninvasive means of identifying pregnant women at an increased risk for various conditions including a fetus with open spina bifida, fetal Down syndrome, trisomy 18, multiple gestation, and adverse pregnancy outcome. Combinations of several different markers are available for screening. These include alpha-fetoprotein, human chorionic gonadotropin, and unconjugated estriol. In this review, we discuss the benefits and limitations of the screening tests and the suggested protocols for the care of patients.

Chorionic Gonadotropin↗
PubMed1992

Ocular albinism in a male with del (6)(q13-q15): candidate region for autosomal recessive ocular albinism?

We describe a boy with an interstitial deletion of 6(q13-q15) and include "coarse" facial features, upslanting palpebral fissures, thin vermilion border of the upper lip, elongated philtrum, developmental delay, and profound hypotonia. The child's eye findings, pedigree, paucity of maternal ocular changes, and lack of melanin macroglobules in the skin suggest that this individual's phenotype is clinically similar to that of autosomal recessive ocular albinism. Though it is possible that this deletion and his ophthalmic disorder are coincidental, we postulate that the ocular albinism may be due to hemizygosity for a paternally derived ocular albinism gene located on chromosome 6 in the region q13-q15. This patient's deletion is secondary to a recombination of a maternal intrachromosomal inverted insertion of this region. Of the 7 reported 6q1 deletions, this is the only case that is due to a familial chromosome rearrangement.

Albinism, Ocular↗