Validation of the Quintero staging system for twin-twin transfusion syndrome

OBJECTIVE: To validate an established staging system for twin-twin transfusion syndrome. METHODS: Prospective observational study in a tertiary referral fetal medicine center of 52 consecutive cases of twin-twin transfusion syndrome. Each pregnancy was assessed longitudinally for a variety of prognostic factors including fetal biometry, amniotic fluid volume, arterial and venous Doppler sonogram abnormalities, and the presence of hydrops. Data were used to determine stage at diagnosis and first treatment, and worst stage throughout pregnancy. Perinatal outcome was assessed by stage. Management comprised serial amnioreduction, septostomy, selective reduction, or delivery, alone or in combination. RESULTS: Median gestation at presentation and first treatment were both 21 weeks (range 14-34 and 15-34), and at delivery it was 29 weeks (range 16-40). Sixty-three percent of pregnancies (33 of 52) were at least stage III at presentation. Forty-five percent of pregnancies (22 of 49) progressed to a more advanced stage. Overall survival was 47% (47 of 100), with no difference between donor and recipient fetuses (40% [20 of 50] versus 54% [27 of 50] [chi(2) P =.5]). Survival rates were 58% (15 of 26), 60% (six of ten), 42% (20 of 48), 43% (six of 14), and 0% (none of two) for stages I-V, respectively, with no significant influence of stage at presentation on survival. Survival was poorer where stage increased, versus decreased (27% [12 of 44] versus 94% [17 of 18] chi(2) P <.001). Kaplan-Meier survival curves indicated that staging at presentation identified pregnancies at greater risk of earlier rather than later gestational perinatal loss. CONCLUSION: The Quintero staging system did not distinguish good from bad outcome at presentation, and thus should be used with caution in guiding initial management of twin-twin transfusion syndrome. However, prognosis was influenced by a change in stage, and pregnancies progressing to higher stage disease were at increased risk of earlier perinatal loss. Staging may thus be more useful in monitoring disease progression.     

Serial aggressive platelet transfusion for fetal alloimmune thrombocytopenia: platelet dynamics and perinatal outcome

OBJECTIVES: Our purpose was to describe the fetal loss rate and platelet dynamics in fetal alloimmune thrombocytopenia managed by serial platelet transfusions. METHODS: Retrospective analysis over 10 years of consecutive pregnancies affected by fetal alloimmune thrombocytopenia requiring in utero platelet transfusions. RESULTS: There were 2 perinatal losses in 12 pregnancies managed by 84 platelet transfusions. One was obviously procedure related from exsanguination despite platelet transfusion. The attributable procedure related fetal loss rate was 1.2% per procedure but 8.3% per pregnancy. The median rate of fall in fetal platelet count per day after transfusion was lower at the placental cord insertion (n = 54) 40.5 x 10(9)/L (range, 5.4-96.1 x 10(9)/L) compared with that at the intrahepatic vein (n = 30) 50.9 x 10(9)/L,(range, 29.5-91 x 10(9)/L) (P = .0009). CONCLUSION: Pooling our results with those previously published yields a cumulative risk of serial weekly transfusions of approximately 6% per pregnancy, indicating the need for development of less invasive approaches.     

X-linked inheritance of Dandy-Walker variant

We report a family in which two sisters had three male fetuses with isolated Dandy-Walker variant (DWV) diagnosed on antenatal ultrasound. DWV is one part of a spectrum of abnormalities related to Dandy-Walker malformation (DWM) which commonly occur in association with other anomalies with or without chromosome abnormalities. The majority of cases are sporadic but rare reports of recurrence in siblings exist. This is the second report suggesting that isolated DWM/DWV can be inherited as an X-linked recessive trait.     

Essence of care involving nursing students

In 2001 the Department of Health published The Essence of Care, which aims to improve patient care by identifying and measuring good practice benchmarks. Educators and trainers need to integrate such initiatives into course curricula and develop innovative approaches to enable the contribution of nursing students. This paper describes the initial phase of collaborative work between the University of Southampton's School of Nursing and Midwifery and the local NHS trust which was designed to achieve these aims, including the development of a good practice evaluation tool which students complete at the end of their clinical placements.     

Is maternal underweight really a risk factor for adverse pregnancy outcome? A population-based study in London

Objective To determine the maternal and fetal risk of adverse outcome during pregnancy in relation to low maternal body mass index in an unselected population.
Design Retrospective analysis.
Methods Information for the years between 1988 and 1997 was extracted from a validated maternity database, including all but one of the maternity units in the North West Thames Region; 215,105 completed singleton pregnancies were studied. Comparison of pregnancy outcome was made on the basis of maternal body mass index at booking. There were 176,923 with a normal weight body mass index (= 20 < 25). There were 38,182 with an underweight body mass index (  < 20  ). Comparisons included antenatal complications (e.g. gestational diabetes, pre-eclampsia); intervention in labour, maternal morbidities (e.g. infection, postpartum haemorrhage, pulmonary thromboembolism); and neonatal outcome (admitted to special care baby unit at 24 hour of age, gestation at delivery, birthweight, stillbirth). Data are presented as percentages of outcomes in the normal and underweight groups with adjusted odds ratios and confidence intervals according to body mass index group.
Results In the underweight group only antenatal anaemia, preterm delivery and birthweight below the 5th centile were more frequent than in women of normal body mass index. The prevalence of certain complications, including development of gestational diabetes mellitus, pre-eclampsia, obstetric intervention and postpartum haemorrhage, were significantly lower in those with low body mass index.
Conclusion Low maternal body mass index is associated with increased prevalence of some pregnancy complications, notably preterm delivery and low birthweight, but overall the outcome is favourable and several adverse outcomes are less common in this group of women.     

Germline mutations of the p53 tumor-suppressor gene in children and young adults with second malignant neoplasms.

BACKGROUND. Acquired mutations in the p53 tumor-suppressor gene have been detected in several human cancers, including colon, breast, and lung cancer. Inherited mutations (transmitted through the germline) of this gene can underlie the Li-Fraumeni syndrome, a rare familial association of breast cancer in young women, childhood sarcomas, and other malignant neoplasms. We investigated the possibility that p53 mutations in the germline are associated with second primary cancers that arise in children and young adults who would not be considered as belonging to Li-Fraumeni families. METHODS. Genomic DNA was extracted from the blood leukocytes of 59 children and young adults with a second primary cancer. The polymerase chain reaction, in combination with denaturant-gel electrophoresis and sequencing, was used to identify p53 gene mutations. RESULTS. Mutations of p53 that changed the predicted amino acid sequence were identified in leukocyte DNA from 4 of the 59 patients (6.8 percent). In three cases, the mutations were identical to ones previously found in the p53 gene. The fourth mutation was the first germline mutation to be identified in exon 9, at codon 325. Analysis of leukocyte DNA from close relatives of three of the patients indicated that the mutations were inherited, but cancer had developed in only one parent at the start of the study. CONCLUSIONS. These findings identify an important subgroup of young patients with cancer who carry germline mutations in the p53 tumor-suppressor gene but whose family histories are not indicative of the Li-Fraumeni syndrome. The early detection of such mutations would be useful not only in treating these patients, but also in identifying family members who may be at high risk for the development of tumors.     

High-energy bilateral talar neck fractures secondary to motocross injury.

The authors present a case of bilateral Hawkins type II talar neck fractures sustained during a motocross race in a 23 year old man. Due to the complexity of the injuries, open reduction with internal fixation and primary subtalar joint arthrodesis was performed bilaterally. This is one of the few cases of bilateral talar neck fractures reported in the literature in the past 15 years and one of the first utilizing open reduction and internal fixation with concomitant subtalar joint arthrodesis as a primary treatment.