Prenatal diagnosis of deletion of chromosome 6p presenting with hydrops fetalis

OBJECTIVE: To report the first known case of 6p deletion presenting in utero with hydrops fetalis and multiple anomalies in the second trimester of pregnancy. METHODS: A thirty-year-old woman (gravida 3 para 1 abortion 1) was referred to our hospital at 18 weeks of gestation because of suspicion of fetal anomaly on routine ultrasound examination. A detailed anomaly scan revealed a single viable fetus with marked skin edema, marked ascites, pleural effusion, hydronephrosis of left kidney, absence of right kidney, cardiac anomaly and oligohydramnios. The fetal face was not visible due to the fetal position. Fetal karyotyping revealed 46,XX,del(6)(p21.3). The couple opted to terminate the pregnancy. RESULTS: A hydropic female fetus was aborted and the autopsy revealed hydrops fetalis with bilateral cleft lips, hydronephrosis of left kidney, absence of right kidney, spleen, and thymus gland, truncus arteriosus, and single umbilical artery. Cord blood and tissue culture confirmed that the fetus had deletion of chromosome 6p. CONCLUSION: Deletion of short arm of chromosome 6 can result in hydrops fetalis in early pregnancy.     

Etiology and outcome of non-immune hydrops fetalis in southern Thailand

OBJECTIVE: To study the etiology and outcome of non-immune hydrops fetalis in southern Thailand. METHODS: The medical records and videotape recordings of all pregnant women diagnosed with non-immune fetal hydrops, from January 1993 to December 2002 were reviewed. RESULTS: Non-immune hydrops fetalis was documented in 71 cases. The causes of fetal hydrops were identified in 87.3%. Homozygous alpha-thalassemia-1 dominated as the cause of non-immune fetal hydrops (28.2%), followed by structural abnormalities (15.5%) and infection (12.7%). The underlying etiology remained unknown in 9 cases (12.7%). The overall survival rate of non-immune hydrops fetalis cases was 4.2%. Spontaneous regression occurred in 2 cases. Two cases were lost to follow up after initial evaluation. Termination of pregnancy was performed in 47 cases. There were 12 dead fetuses in utero, 2 stillbirths, 5 early neonatal deaths and only 3 cases survived. CONCLUSIONS: Homozygous alpha-thalassemia-1 is the most common cause of non-immune hydrops fetalis in southern Thailand, and the overall prognosis of non-immune hydrops fetalis is poor. We suggest that an effective thalassemia-screening program for prevention and control of homozygous alpha-thalassemia-1 be established in all areas where the alpha-thalassemia-1 gene is prevalent.     

Fetal Cardiac Rhabdomyoma With Hydrops Fetalis

Rhabdomyoma is the most common cardiac tumor in fetuses, often associated with the tuberous sclerosis complex, especially when multiple tumors and a positive family history of tuberous sclerosis are noted. The tumor is often benign and has a tendency to regress but may increase in size until the early third trimester. Fetal cardiac rhabdomyoma complicated by hydrops fetalis and leading to fetal death is rare. We report 2 cases of fetal cardiac rhabdomyoma with hydrops fetalis and provide a review of the literature.     

Prenatal diagnosis of thalassemia in Songklanagarind Hospital in southern Thailand

A thalassemia screening program for pregnant women has been established in Songklanagarind Hospital since 1992. After genetic counseling, a total of 5078 pregnant women accepted entry into a screening program for thalassemia. Couples at risk who should receive prenatal diagnosis were 2.8%. Total cases who accepted prenatal diagnosis were 135. Total clinical cases were 40 (29.6%) with achievement by prenatal diagnosis of 33 cases (82.5%). Genetic amniocentesis is the most acceptable method for prenatal diagnosis. Five cases (12.5%) were misdiagnosed due to contamination of maternal blood cells in amniotic fluid cases. Questionable results were reported in 2 cases (5%). Abortion occurred in one case (0.7%). Improvement of surgical technic in prenatal diagnosis reduced the complications and contamination of maternal cells. This program shows the feasibility of prevention and control of thalassemia disease in southern Thailand.     

A comparison of fetal behaviour in breech and cephalic presentations at term

Objective To evaluate fetal behaviour in breech and cephalic fetuses at term, using a computerised fetal behaviour program.
Design An observational study.
Setting Pregnancy Assessment Centre, University Hospital, Nottingham.
Sample Twenty-six breech and 58 cephalic fetuses between 36 and 41 weeks.
Methods Behaviour (fetal heart rate and activity) was recorded with the use of Doppler ultrasound. The duration of recording was 60 minutes or more in all but four recordings (minimum 49 minutes).
Main outcome measures Behavioural criteria studied were 1. the relative percentage time spent in low and high variation fetal heart rate patterns; 2. the duration and recurrence of fetal activity; 3. the number of accelerations in low and high fetal heart rate variation; and 4. the number of fetal behavioural state transitions.
Results Breech fetuses differed from the cephalic group in that they were lighter than the cephalic fetuses (median 3105 g vs 3400 g;   P < 0.01  ) and were born to older mothers (median maternal age 30 years vs 28 years;   P < 0.01  ). No significant differences were found in rates of movement, numbers of accelerations and time exhibiting low and high fetal heart rate variation. However, breech fetuses exhibited significantly more state transitions (median 5.2h vs 3.69h;   P = 0.01  ).
Conclusions This study shows that breech fetuses are neurologically different from their cephalic counterparts in otherwise healthy pregnancies, and that subtle behavioural differences can be demonstrated in utero using this computerised method.     

Sleep–wake cycles in normal fetuses

Objective  

To study the normal ranges of sleep–wake cycles in normal fetuses.     

A comparison of fetal behaviour in breech and cephalic presentations at term.

OBJECTIVE: To evaluate fetal behaviour in breech and cephalic fetuses at term, using a computerised fetal behaviour program. DESIGN: An observational study. SETTING: Pregnancy Assessment Centre, University Hospital, Nottingham. SAMPLE: Twenty-six breech and 58 cephalic fetuses between 36 and 41 weeks. METHODS: Behaviour (fetal heart rate and activity) was recorded with the use of Doppler ultrasound. The duration of recording was 60 minutes or more in all but four recordings (minimum 49 minutes). MAIN OUTCOME MEASURES: Behavioural criteria studied were 1. the relative percentage time spent in low and high variation fetal heart rate patterns; 2. the duration and recurrence of fetal activity; 3. the number of accelerations in low and high fetal heart rate variation; and 4. the number of fetal behavioural state transitions. RESULTS: Breech fetuses differed from the cephalic group in that they were lighter than the cephalic fetuses (median 3105 g vs 3400 g; P < 0.01) and were born to older mothers (median maternal age 30 years vs 28 years; P < 0.01). No significant differences were found in rates of movement, numbers of accelerations and time exhibiting low and high fetal heart rate variation. However, breech fetuses exhibited significantly more state transitions (median 5.2/h vs 3.69/h; P = 0.01). CONCLUSIONS: This study shows that breech fetuses are neurologically different from their cephalic counterparts in otherwise healthy pregnancies, and that subtle behavioural differences can be demonstrated in utero using this computerised method.     

A comparison of fetal behaviour in term fetuses exposed to anticonvulsant medication with unexposed controls

Objective To compare behaviour in term fetuses exposed to anticonvulsants with unexposed controls.
Design An observational study.
Setting Pregnancy Assessment Centre, University Hospital, Nottingham, UK.
Sample Seventeen fetuses whose mothers were taking anticonvulsants and 94 fetuses whose mothers were on no medication between 28 and 41 weeks.
Methods Behaviour (fetal heart rate and activity) was recorded with the use of Doppler ultrasound. The duration of recording was 60 minutes or more in all but four recordings (minimum 49 minutes).
Main outcome measures Behavioural criteria studied were: 1. the relative percentage time spent in low and high variation fetal heart rate patterns; 2. the duration and recurrence of fetal activity; 3. the number of accelerations in low and high fetal heart rate variation; and 4. the number of fetal behavioural state transitions.     

Effect of a clinical practice guideline on physician compliance.

OBJECTIVES: To evaluate the effect of a clinical practice guideline for cesarean section due to dystocia on physician compliance, pregnancy outcome, and cesarean delivery rates, and to identify factors associated with physician non-compliance. DESIGN: A cross-sectional study. SETTING: A university hospital, Southern Thailand. STUDY PARTICIPANTS: All 719 medical records of women undergoing a cesarean section due to dystocia (failure to progress; cephalopelvic disproportion) before and after implementation of the guideline, from 1 January 1998 to 31 December 2000. INTERVENTION: A clinical practice guideline for cesarean section due to dystocia was implemented on 1 June 1999. MAIN OUTCOME MEASURES: Physician compliance, pregnancy outcomes, and cesarean section rates. Multivariate logistic regression was used to identify factors associated with physician non-compliance. Independent variables consisted of maternal age, height, parity, type of service, and birthweight. RESULTS: Physician compliance with the guideline was 89.2%. Maternal complications were less in the period after implementation of the guideline. Fetal outcomes were not different between the two periods. The cesarean section rates due to dystocia decreased after implementation of the guideline, from 10.7% in 1999 to 8.6% in 2002. Private practice, maternal short stature, and birthweight > or = 3500 g were significant predictors of physician non-compliance. CONCLUSIONS: Physician compliance was high. A clinical practice guideline can reduce the cesarean section rates due to dystocia without increasing adverse outcomes. Physician non-compliance was more common in women with well known risk for cephalopelvic disproportion, and private practice.