Characteristics and outcome and the omphalocele circumference/abdominal circumference ratio in prenatally diagnosed fetal omphalocele.

OBJECTIVE: To evaluate the outcome of fetuses with prenatally diagnosed omphalocele and to investigate the predictive value of the omphalocele circumference/abdominal circumference (OC/AC) ratio - a measure for the relative size of the omphalocele. MATERIALS AND METHODS: This study includes all fetuses prenatally diagnosed with omphalocele at our centre between 1995 and 2007. Medical records and footage of ultrasound examinations were reviewed. Omphalocele was classified in four groups: isolated, chromosomal, syndromic, and multiple anomalies. RESULTS: Eighty-eight cases were identified: 21 (24%) were isolated and 67 had additional structural anomalies. Of the 44 fetuses (50%) with chromosomal anomalies, 2 had omphalocele as a solitary finding. Fifty-three pregnancies (60%) were terminated because of the size of the lesion or associated structural or chromosomal anomalies. Twenty-one cases resulted in a live birth, of which 17 were vaginal deliveries (81%, all uncomplicated) including 3 cases of giant omphalocele (≥5 cm). The OC/AC ratio was found predictive for herniation of the liver, respiratory insufficiency and type of surgical reconstruction. Currently, 12/88 fetuses (14%) are alive and well, including 2 infants with multiple anomalies. CONCLUSION: Identification of omphalocele should arouse suspicion of genetic abnormalities, even in cases that appear isolated. The OC/AC ratio may influence counselling regarding the postnatal course.

Early second-trimester diagnosis of sirenomelia.

Two cases of sirenomelia are described, detected in the 14th and 16th weeks of gestation by transvaginal ultrasonography. A hypothesis for the aetiology of sirenomelia and its associated anomalies is discussed.

First-trimester uteroplacental and fetal blood flow velocity waveforms in normally developing fetuses: a longitudinal study.

Our objectives were to obtain a complete overview of uteroplacental and fetal hemodynamics early in pregnancy and to record flow velocity waveforms in the vitelline artery using color Doppler equipment. Flow velocity waveforms were recorded in 18 uneventful pregnancies between 6 and 16 weeks of gestation. Doppler recordings were made of the left and right uterine and spiral arteries from 6 weeks of gestation onwards. Recordings of c the umbilical artery, fetal aorta and fetal cerebral arteries started in weeks 7, 8 and 9, respectively. Where possible, the vitelline arteries were also recorded. The resistance and pulsatility indices and 95% confidence intervals for predictions were calculated.For the uterine and spiral arteries, characteristics of the waveforms were assessed. The resistance index of both uterine and spiral arteries gradually decreased with advancing pregnancy. For the umbilical artery, aorta and cerebral artery, the earliest possible Doppler recordings and characteristics of the waveforms were established. The pulsatility index of the umbilical arteries and fetal aorta showed a sharp decrease towards the 16th week. The pulsatility index of the fetal cerebral artery showed only a mild decrease towards week 16. In a longitudinal analysis, there were significant changes of the resistance and pulsatility indices for each patient. In the vitelline artery, recordings were possible in eight out of 18 fetuses, and only in weeks 7 and 8 of gestation. The pulsatility index showed a wide range and was not dependent on menstrual age.Knowledge of the normal flow velocity waveforms in the maternal uteroplacental and fetal circulations early in pregnancy may lead to a better understanding of physiological mechanisms.

Cephalocele and cystic hygroma: diagnosis and differentiation in the first trimester of pregnancy with transvaginal sonography. Report of two cases.

Two case reports are presented of fetuses with malformations in the neck region, detected in the first trimester of pregnancy by transvaginal ultrasonography. In one fetus a septated cystic hygroma was visualized. Trisomy 18 was found. The other fetus presented with a cephalocele. The ultrasound diagnosis was confirmed at autopsy in both cases. Sonographic criteria to distinguish between cystic hygroma and occipital cephalocele in the first trimester of pregnancy are discussed.

Ultrasound diagnosis of fetal abnormalities and cytogenetic evaluation.

Over a 6 1/2 year period, in 288 pregnancies a variety of fetal malformations were detected by ultrasound. Two hundred and ten fetuses (73 per cent) were karyotyped. Gestational age at detection ranged from 11 to 38 weeks. The incidence of an abnormal karyotype in the total series was 14 per cent and 14.7 per cent in the 210 pregnancies in which a karyotype was performed. Single structural anomalies were found in 149 cytogenetically investigated fetuses, of which 25 had a chromosomal abnormality (17 per cent). Multiple structural malformations were present in 61 fetuses, of which 16 had an abnormal karyotype (26 per cent). Trisomy 18 was the most frequent finding. The most constant ultrasound finding in cases of an abnormal karyotype was polyhydramnios and severe IUGR in combination with structural defects. There is a need for extensive detailed ultrasound examination in high-risk pregnancies.