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Biomedical subjects

M P Kambich

Publications and source records attributed to M P Kambich.

6 recordsLinked to original sources

Midtrimester amniocentesis. Influence of operator caseload on sampling efficiency.

OBJECTIVE: To evaluate the impact of operator caseload on the sampling efficiency for early and standard, midtrimester amniocentesis. STUDY DESIGN: Prospective ascertainment of genetic amniocenteses performed during 36 months, grouped into early (13-14 weeks' gestation) and standard procedures (15-20 weeks' gestation). Details of each amniocentesis were recorded immediately after sampling, and pregnancy outcomes were retrieved via questionnaires completed by the delivering physician. Sampling efficiency was evaluated separately in the early and standard cohorts in relation to operator caseload. RESULTS: In total, 193 and 707 patients underwent early and standard amniocentesis, respectively. Forty of 46 physician-operators performed < 50 total procedures during the study interval (group A). When compared to operators performing > or = 50 cases (group B, n = 6), a higher rate of single-pass success was noted among group B physicians for both early and standard procedures (A vs. B, early: 40/45 vs. 145/148, P = .018; standard: 243/295 vs. 384/412, P < .0001). Logistic regression confirmed an independent effect of physician caseload on sampling efficiency and a significant interaction between physician caseload and simultaneous ultrasound guidance in predicting single-attempt success. CONCLUSION: Operator caseload directly influenced sampling efficiency for both early and standard, midtrimester amniocentesis.

Adult↗

Maternal genetic disease and pregnancy.

This article reviews classic genetic diseases and illustrates the effect of an existing maternal condition on maternal and fetal well-being during pregnancy. The management issues discussed may serve as a framework for treatment when reproductive issues are encountered with other maternal genetic diseases.

Female↗

Isolated hyperechoic fetal bowel: significance and implications for management.

OBJECTIVE: The objective of this study was to determine the significance of isolated hyperechoic fetal bowel. STUDY DESIGN: Forty-five cases with prospective, ultrasonographic diagnosis of isolated hyperechoic fetal bowel were reviewed. Fetal variables, including aneuploidy, deoxyribonucleic acid studies for cystic fibrosis, congenital infection, growth retardation, and intrauterine death were reported. RESULTS: Thirty-four of the 45 cases (76%) resulted in live-born infants without detected abnormalities. However, hyperechoic bowel was associated with cystic fibrosis in two cases (4%), congenital infection in two cases (4%), and fetal alcohol syndrome in one case. Termination of pregnancy was elected in three cases and intrauterine fetal death occurred in three cases (7%). Growth retardation was observed in five of 39 (13%) live-born infants. CONCLUSION: Isolated hyperechoic fetal bowel is associated with significant pathologic disorders. Women whose fetuses are diagnosed as having isolated hyperechoic bowel should be offered additional prenatal diagnostic options, including maternal serologic studies for congenital infection, fetal karyotype, and deoxyribonucleic acid testing for cystic fibrosis. In addition, continuing ultrasonographic evaluation of fetal growth and antenatal biophysical assessment should be considered.

Cystic Fibrosis↗

Congenital malformations subsequent to chorionic villus sampling: outcome analysis of 1048 consecutive procedures.

We wished to identify the types and frequencies of malformations among continuing pregnancies exposed to chorionic villus sampling (CVS) and to determine whether selected procedure-related variables differ between the normal and anomalous cohorts. CVS was performed in 1048 patients between May 1988 and January 1992. Prospective assessment of perinatal outcome was ascertained by (1) physician-patient phone contact within 1 week of sampling, (2) ultrasound evaluation of the fetal anatomy at mid-gestation, (3) a detailed post-partum questionnaire completed by the referring obstetrician, and (4) a telephone interview with each patient after the expected date of confinement. Twenty-seven major malformations were documented among 938 pregnancies (live born, n = 934; electively terminated, n = 4), and included cardiac malformations (5), hypospadias (5), craniosynostosis (2), pyloric stenosis (2), inguinal hernia (2), polydactyly (2), syndactyly, distal extremely hemimelia, anencephaly, hydrocephalus, cleft lip and palate, omphalocele, diaphragmatic hernia, thanatophoric dysplasia, and unilateral cataract. Normal and anomalous cohorts were similar with respect to sampling method (transabdominal/transcervical ratio), mean gestational age at CVS, single-pass success rate, and mean total sample weight. No relationship between any procedure-related variable and the risk of malformation was observed.

Chorionic Villi Sampling↗

A comparison of pregnancy loss between transcervical and transabdominal chorionic villus sampling.

OBJECTIVE: To evaluate the comparative safety of transcervical and transabdominal chorionic villus sampling (CVS). METHODS: From May 1988 to January 1992, CVS was performed by two operators at 9-12 weeks' gestation in 1048 singleton pregnancies. The sampling method for each patient, transabdominal or transcervical, was chosen primarily based upon placental location; the transabdominal route was used for anterior or fundal location and the transcervical route for posterior placentation. Perinatal outcome was assessed by post-procedure patient telephone contact, mid-gestation ultrasound evaluation, postpartum questionnaire completed by the referring obstetrician, and telephone interview with each patient after delivery. RESULTS: Complete follow-up was available in 1012 cases (97%). Excluding 39 elective abortions, 35 of 973 euploid pregnancies aborted spontaneously. The difference in fetal loss rate between transcervical and transabdominal CVS approached statistical significance (5.2 versus 2.9%; P = .058). Bleeding before CVS (P = .006) and multiple placental aspirations (P = .022) were associated with fetal loss for the entire study group. An interaction between uterine position and sampling method was also indicated; an increased loss rate was associated with transcervical CVS in the presence of uterine retroversion (P = .0017). CONCLUSION: Despite choosing the preferred CVS method for each patient, an increased loss rate may be associated with transcervical sampling in the presence of uterine retroversion.

Abdomen↗

Clinical and pathologic findings in 2 siblings with congenital nephrotic syndrome.

We report the clinical and pathologic findings of 2 siblings affected with congenital nephrotic syndrome (CNS). The parents were a nonconsanguineous Mexican couple. The first sibling was born at term and developed proteinuria, hypoproteinemia, edema and ascites by its second month of life; he died septic at 6 months of age. The second sibling was diagnosed with congenital nephrosis during the second trimester of pregnancy. Prenatal demonstration of reno-placentomegaly can help in making the presumptive diagnosis of CNS in patients with high maternal serum and amniotic fluid AFP, normal acetylcholinesterase and normal karyotype. The pathologic findings of the kidneys of these siblings demonstrate that tubular microcysts are not critical to the disease process and are only the manifestation of a progressive disease in which the primary renal defect probably resides in a lack of integrity of the glomerular epithelial cells serving as filter.

Female↗