Volume 28, Issue 6

The major diagnostic features of Ellis van Creveld syndrome (EvC) includes disproportionate short stature, polydactyly, ectodermal anomalies, and structural heart defects. We describe three siblings with EvC of a nonconsanguineous mating. The history of these siblings well illustrate the clinical manifestations and complications that children with EvC encounter. All three girls had short stature, narrow rib cage, polydactyly and nail hypoplasia. The first daughter died in early infancy in respiratory failure. The second daughter underwent open heart surgery for atrial septal defect repair. The third daughter, diagnosed in utero with fetal ultrasonography, currently is scheduled for surgical excision of extra-digits and extraction of neonatal teeth. Infant mortality rates among patients with EvC is strikingly high due primarily to cardiorespiratory failure. If they survive infancy morbidity is significant. The gene effected in individuals with EvC has recently been identified on the short arm of chromosome 4. Future testing for gene mutations may provide valuable information for premarital counseling and prenatal diagnosis. Three offspring with disproportionate short stature, polydactyly, and ectodermal dysplasia of a non-consanguineous mating, strongly indicate parental heterozygosity for Ellis van Creveld syndrome.

Objective: To ascertain whether increased weight gain during pregnancy resulted in higher birth weight infants. Methods: A database was constructed from valid data of a sample of 159 healthy women between 19 to 37 years of age. The inclusion criteria were: maternal age of 19–37 years, term gestations (37–42 weeks), a baseline weight obtained at 0–15 weeks gestation, and a final weight obtained within 2 weeks of delivery. Weight gain was calculated by subtracting baseline weight from the final weight. A documented height enabled calculation of BMI. A negative screen for gestational diabetes was required. Results: Women with lower first trimester BMI (<25) had infants of lower birth weight than women of higher BMI (>25). Women with lower gain (<35 lbs) delivered smaller infants than women with higher gain (>35 lbs). Women of higher BMI and higher gain delivered the largest infants (F = 5.37; p = 0.0015). Underweight women (BMI <19) gained less weight than women of normal weight (BMI 19–25), who gained the most weight. Obese women (BMI > 29) gained the least weight (F = 6.26; p = 0.0005). Conclusion: The results confirmed that excessive maternal weight gain in pregnancy (> 35 lbs), does result in higher birth weight infants.

Objective: To compare echocardiograms of macrosomic and healthy full term neonates whose weight was appropriate for gestational age (AGA). Methods: Echocardiography was performed on 9 healthy full term AGA neonates and 15 macrosomic neonates. A data base was generated from valid echocardiographic measurements on each infant. Results: Macrosomic infants were heavier than control infants and had a greater body surface area, but their mean cardiac dimensions were similar. The mean LVES volume was smaller than that of the control group when expressed as a fraction of individual LVED values (0.61 ± 0.04 vs 0.64 ± 0.02; p = 0.02). When comparing IVS/PW, it was observed that the ratio was up to and including 1.33 in the control group, while the upper limit of the ratio of the nondiabetic macrosomic infants was 1.6. The shortening fraction (SF%) was increased in comparison to infants of normal weight (40.67% ± 3.34 vs 36.00% ± 1.89; p = 0.0009). The thickened IVS did not elevate SF% by decreasing LVES; the macrosomic infants had a smaller LVES mean volume. Conclusion: IVS/PW ratio of macrosomic infants fell outside of the normal range. Macrosomic neonates were found to have an increased SF% secondary to a proportionally smaller LVES volume, regardless of IVS thickness.

Objective: To determine if there is a relationship between acute improvement in pulmonary gas exchange and surfactant use in near-term (35–39 weeks' gestation) infants with respiratory distress syndrome (RDS). Methods: We examined retrospectively the records of 54 infants admitted during a 15 month period who were 35 or more weeks of gestation, and who demonstrated all the diagnostic features of RDS. Data analyzed included: birth weight; gestational age; Apgar scores; calculated alveolar to arterial oxygen gradient (AaDO 2 ) and oxygenation index (0I); hours of life at intubation; surfactant administration; complications with surfactant administration; use of inotropic medications. Results: A total of 30 of infants were treated with intubation and surfactant administration. Mean FiO 2 at the time of surfactant administration was 0.96. The AaDO 2 decreased from 64.0 ± 14.8 kPa to 41.8 ± 22.5 kPa by 6 hrs (p < 0.0001). There was no relationship between age at treatment (6–89 hr) and response to treatment as measured by changes in AaDO 2 , FiO 2 , or oxygenation index (OI). Conclusions: Near-term infants with severe RDS often respond to exogenous surfactant, suggesting a functional deficiency of endogenous surfactant at a “late” stage in their disease process. We speculate that delayed treatment may still be effective in these patients.

Objective: The objective of the present study was to determine the association between early maternal age and pregnancy outcome at a community hospital. Methods: A retrospective cohort of 188 nulliparous patients was divided into three study groups of adolescent patients and a control group based on maternal age at the time of delivery. Results: Younger adolescents had an excellent prenatal visit record. Overall complication rates were low and similar among groups. The cesarean section rates were not higher for younger adolescents in comparison to the control group. Duration of second stage of labor was shorter in adolescents than in the older patients (34.3 ± 39.5 vs 59.5 ± 39.9 min; t = 3.24; p = 0.002). There were no differences in mean gestational ages at delivery. The mean birth weights were lower in all adolescent groups compared to the control (ANOVA: F = 3.729; p = 0.0124). There were few NICU admissions in adolescent groups. Conclusion: Early maternal age (13 to 19 years) was associated with shorter duration of second stage labor and lower birth weight in a cohort of patients delivering at a community hospital.

Objective : To study the side effects of prolonged prostaglandin therapy especially hyperostosis and other musculoskeletal changes. Methods : Case files of the neonates, with cyanotic heart disease, who had received prostaglandin infusion from early days of life, were reviewed. Patients with periosteal changes were identified. Their radiographs, serum alkaline phosphatase activity, duration and dose of prostaglandin and other side effects related to the prostaglandin were studied. Results : Ten patients developed hyperostosis, who had received PGE1 infusion for a period of 9 to 195 days. Two babies developed coarse facial features, hypertrichosis, and edema of extremities and digital swelling. Serum alkaline phosphatase activity was significantly raised in the patients, with hyperostosis. Besides long bones, ribs and scapulae, the clavicles were also involved. The involvement of clavicles has not been previously reported. Conclusion : Hyperostosis is a common side effect of prolonged prostaglandin therapy. Abnormal facial features, hypertrichosis and coarse skin are additional adverse effects of long term therapy. Serum alkaline phosphatase activity can be used as a marker of the hyperostosis. In addition to other bones clavicles can also be involved. The above effects seem to be both dose and duration dependent.

Objective: To assess the risks and benefits to patients who carry to term after undergoing a Shirodkar cerclage where the cerclage is not removed until the patient presents in labor. Methods: A retrospective analysis was conducted examining all patients who underwent a Shirodkar cerclage employing a 5 mm Mersilene band. All the cerclages were placed by a single operator over a twenty five year span, from 1/01/74 till 10/01/98. Only patients who delivered vaginally or were allowed a trial of labor were included. In all cases, the cerclage was removed under regional anesthesia after the patient presented to the hospital in labor. Results: Ninety six cerclage procedures were performed over that period. Eighty two pregnancies qualified for review. Sixty two patients delivered vaginally (76%). Nine cesareans were indicated for failure to progress in labor (11%) with cervical dystocia possibly implicated in one. There were no cases of ruptured uteri or the development of uterine windows. Of the 82 pregnancies there were five cases (6%) of minor cervical laceration. Conclusion: Allowing patients to proceed to labor with a Shirodkar cerclage in place, does not increase the risks of cervical dystocia, cervical laceration, or uterine rupture above the reported incidence for these complications in patients in whom the cerclage is removed prophylactically.

New York State introduced the first statewide program in the U. S. of expedited HIV testing (48-hour turnaround results) of mothers with unknown HIV status at the time of labor or delivery and their newborns on August 1, 1999. We evaluated the results of this program during its first 5 months at Lincoln Medical and Mental Health Center (Lincoln Hospital) in the Bronx, New York. There were 1,274 total live birth deliveries between August 1 and December 31, 1999. The HIV infection status of 539 mothers (42.3%) was unknown to medical providers in the labor-delivery suite, either due to lack of testing during the current pregnancy or unavailability of HIV documentation at the time of delivery. During labor and delivery, a total of 462 (85.7%) mothers with unknown HIV status consented to expedited HIV testing (Single Use Diagnostic System for HIV-1 antibody or SUDS). The newborns of 77 mothers (14.3%) who did not consent were tested immediately after birth. Seventeen tested positive for HIV-1 antibody by the SUDS test. The results of 10 of these infants (58.8%) were subsequently confirmed positive for HIV-1 antibody by Western Blot analysis. This new rapid HIV testing program facilitated early diagnosis of these previously unknown HIV-exposed infants, although the low positive predictive value of the test in our community calls for careful communication of these results pending confirmation.

The etiology of pre-eclampsia, a disorder specific to pregnancy, has not yet been clearly established. Generalized endothelial dysfunction is thought to occur. Inadequate trophoblast invasion at the feto-maternal junction has also been postulated as the cause. However, recent findings are more suggestive of an inappropriate maternal inflammatory response within the framework of placentation, the innate immune system being primarily involved. This exaggerated maternal intravascular inflammatory reaction to the invading trophoblast leads to the manifestations of pre-eclampsia in the mother and feto-placental unit. The extent of the inflammatory reaction, which is also present in normal pregnancy, is probably determined by genetic factors and any pre-existing disorder affecting the mother or fetus. The process is very complex and cannot be attributed to any one single cause.

Objectives: To review the cases receiving peripartum hysterectomies treated in this hospital during the period 1967–1995. Clinical characteristics, indications, and results were more closely analyzed. Study design: A chart review of all cases operated since January 1967 to December 1995 was done. Demographic and clinical data were extracted, coded, and entered into a computer file for analysis. Indications, type of operation, pre-op planning or emergency decision, blood loss, transfusion, complications, were compared and cross-tabulated. Statistical analysis included: chisquare and Fisher exact tests, where appropriate, and two-sample t test. Results: In 58% of 217 cases the operation was planned, and total hysterectomy was done in 94%. Indications changed through the years, from predominantly elective to almost exclusively emergencies. These were mostly bleeding complications, in particular placenta previa and/or accreta. The presence of a uterine scar or submucous fibroid was associated with 79% (26/33) of accretas, and 51% (19/37) of previas. Among the 126 planned, 57% did not receive a transfusion and 84% of 91 emergencies did have one. The average amount of blood received by the latter was 3009 ml compared to 1262 ml for the former (p < 0.0001). There was a direct relationship between amount of blood loss and volume transfused. There were 26% intraoperatory bleeding complications and 5% urinary tract injuries. Postoperatory morbidity such as bleeding, infections, wound dehiscence, and others was observed in 17% of planned, and 23% of emergencies. Twelve patients needed another operation to treat some of these complications. There were no deaths recorded. Conclusions: Peripartum hysterectomy is a major operation, and in current times almost always an emergency with high risk for significant blood loss. The obstetrician should be ready to do it, and an early decision should save blood and prevent complications. Postoperative complications, mostly bleeding and infections may be severe. Early intervention and proper technique facilitate good outcomes.

Aims: The study investigated factors related to the expectations and wishes concerning delivery of expectant parents. Methods: A self-administered questionnaire on the relevant aspects of delivery was developed, pre-tested, and administered to 545 expectant mothers (n = 336) and fathers (n = 209) attending open house informational events at 3 hospitals around Giessen, Germany. Results: Response rate was 96.3%. Three major areas of interest were identified and converted into scales: “management and obstetrical equipment” (ME; α = 0.81), “medical standards” (MS; α = 0.82), and “hospital conveniences” (HC; α = 0.78). Preferences of participants were influenced by age, gender and parity, as well as by different levels of state- and trait-anxiety. Expectant fathers focused more on HC of the hospital whereas ME, as well as MS, were more important to pregnant women, especially older women from rural areas with high state and/or trait anxiety (p ≤ 0.05). However, MS were also found to be important for younger, nulliparous women with at risk pregnancy. Parents of high-risk pregnancies did not emphasize their wishes for ME (p ≤ 0.05). Conclusion: Fashionable obstetrical equipment of delivery rooms, high medical standards, the reputation of the hospital, and certain conveniences are important issues for expectant parents. However, their importance varies with the above mentioned factors.

Aims: To determine the prevalence, recurrence rate and to identify risk factors for prelabor rupture of the membranes (PROM) after 34 completed weeks in an urban Swedish population. Methods: In a retrospective cohort study a sample of 2880 women aged 25–41 years, resident in the city of Göteborg, was randomly selected from the population register. According to information from the national Medical Birth Register (MBR), 1507 of these 2880 women had given birth 2736 times. 2270 of these deliveries had occurred in hospitals in the city of Göteborg and case records for 2242 of these deliveries were found. The case records were systematically analyzed for the occurrence of PROM and potential risk factors for PROM. 2208 of these deliveries occurred after 34 weeks of gestation. The further analyses were based on these 2208 deliveries. Results: The prevalence of PROM after 34 week of gestation in this urban Swedish population was 12.9% and about 20% of the women in the population had experienced PROM at least once. In the multiple stepwise regression analysis, risk factors for PROM were primiparity, premature contractions, PROM in a previous pregnancy and bleeding in the first trimester. Conclusions: PROM is a common complication at or near term. The risk factors for PROM found in this representative study are difficult to influence and thus provide no guidance about how pregnancies should be managed to reduce the occurrence of PROM in the future.

Myotonic dystrophy is a multi-organ disease inherited in a complicated way. Congenital myotonic dystrophy is a distinct entity with severe symptoms leading to a high rate of perinatal morbidity and mortality. The occurrence of congenital myotonic dystrophy often allows a subsequent diagnosis in the mother with important implications for her life, her further pregnancies and offspring. Genetic principles of anticipation and somatic mosaicism are involved and hamper the prenatal diagnostic possibilities. A family is presented in which maternal myotonic dystrophy and congenital myotonic dystrophy were diagnosed after the third pregnancy. The key features leading to the diagnosis were obstetric history, neonatal hypotonia and asphyxia, facial abnormalities in the mother together with the inability to bury eyelashes and delayed release of grip after shaking hands. The disorder is reviewed with respect to clinical symptoms, pathogenesis and genetics.

The HELLP syndrome is associated with a high rate of prematurity, which is the major cause of neonatal morbidity and mortality. Several studies have demonstrated the feasibility of prolongation of pregnancies complicated by HELLP syndrome. Until now the role of an additive pharmacological regimen, and particularly the role of corticosteroids, is still not clear. We report a case of a successful prolongation of a pregnancy complicated by HELLP syndrome and note a direct relationship with application and withdrawal of corticosteroids. A 26-year old primigravida was admitted with HELLP syndrome in the 25 th week of gestation. We commenced a therapy with 40 mg methylprednisolone i.v. once daily, with clinical symptoms and biochemical parameters improving within two days. On day 6 we discontinued steroid medication with a consecutive deterioration of all biochemical data and clinical symptoms. Corticosteroids were recommenced and within two hours an improvement of all symptoms and laboratory data was observed. Overall we were able to prolong the pregnancy for 33 days. This case report underlines the beneficial effect of corticosteroids in patients with HELLP syndrome. Thus steroids might be helpful for postponing deliveries in very preterm gestation and for stabilizing the maternal status.