[show abstract][hide abstract] ABSTRACT: 201 fetuses and babies with a congenital diaphragmatic herniation or eventration (referred to collectively as CDH) were notified to the Northern Region Congenital Abnormality Survey (NorCAS) in the 13-year period from 1985 to 1997, an incidence of 0.25 per 1000 births. The 1-year survival of all pregnancies associated with CDH was 37%. The 1-year survival of livebirths was 50%. Antenatal scan detected the diaphragmatic defect or associated structural abnormality in 50%. Another major structural abnormality was present in 62 (31%); one of these babies survived and 26 pregnancies were terminated. This group contained four of the six antepartum stillbirths, all three intrapartum stillbirths and four of the five spontaneous miscarriages. Non-isolated CDH occurred in association with Fryns (5), Goldenhar (1) and de Lange (1) syndromes, and in 16 of 17 with a chromosome anomaly. 53% of the 139 fetuses with isolated CDH survived to 1 year of age, and 59% of the 124 liveborn survived. Of 37 fetuses with isolated CDH detected before 25 weeks gestation, 12 pregnancies were terminated. There were 11 survivors among the 25 continuing pregnancies (44%). The overall survival of babies with CDH is very poor but, when a defect is identified by ultrasound before 25 weeks gestation, chromosome analysis and a careful ultrasound scan may suggest which fetuses have an isolated diaphragmatic abnormality and a greater chance of survival.
British Journal of Radiology 05/2000; 73(868):360-5. · 1.22 Impact Factor
[show abstract][hide abstract] ABSTRACT: The aim was to describe trends in prevalence, maternal age-specific prevalence, associated anomalies, clinical outcomes and the sensitivity of antenatal diagnosis of congenital anterior abdominal wall defects (in particular gastroschisis and exomphalos). Data were identified from a population-based register of major congenital abnormalities in the Northern health region of England, the Northern Congenital Abnormality Survey (NorCAS), between 1986 and 1996. 296 cases were notified; there were 133 cases of gastroschisis, 98 exomphalos, 30 limb-body wall defects and 23 other anterior abdominal wall defects. 12 cases could not be classified. In 19 (6 per cent) the initial diagnosis was changed following case review. 30 (30.6 per cent) cases of exomphalos were associated with a chromosomal anomaly compared with 1 (0.8 per cent) case of gastroschisis. The total prevalence for the 11 years was 6.33 (95 per cent CI=5.57-7.08) per 10 000 live births, still births and terminations of pregnancy, and the overall birth prevalence was 4.30 (95 per cent CI=3.68-4.93) per 10 000 live births and still births. For gastroschisis, there was a significant increase over the study period in both the total prevalence (1.48 in 1986 to 5.29 per 10 000 in 1996; chi(2)=8.41, p=0.00433) and the birth prevalence (1.48 in 1986 to 4.72 per 10 000 in 1996; chi(2)=7.42, p=0.00644), but there was no such significant increase for exomphalos (total prevalence chi(2)=2.29, p=0.13055; birth prevalence chi(2)=0.16, p=0.69348). The maternal age-specific prevalence was highest in the 11-19 year age group for gastroschisis but in the 35-39 year age group for exomphalos. Fewer pregnancies with gastroschisis resulted in a termination and a greater proportion of cases were alive at one year compared with exomphalos. The sensitivity of abnormality detection by ultrasonography was 75 per cent and 77.3 per cent for gastroschisis and exomphalos, respectively. Antenatal diagnosis improved from 47.4 per cent during 1986-91 to 80 per cent between 1992-96 for gastroschisis (chi(2)=5.7, p=0.00169), and from 55.6 per cent to 68.8 per cent for isolated exomphalos, although this increase was not significant. Total and birth prevalence of gastroschisis increased in the Northern region between 1986 and 1996. For exomphalos, there was a trend towards an increase in total prevalence and towards a decrease in birth prevalence. This decreasing trend has been accompanied by improvements in antenatal detection and subsequent termination of cases of exomphalos associated with other anomalies.
[show abstract][hide abstract] ABSTRACT: During a 10 year period, a renal tract anomaly was suspected on antenatal ultrasound in 125 fetuses, an incidence of five per 1000 births. 107 live births resulted. Three of six babies with renal failure were stented antenatally. A chromosome anomaly was present in three fetuses (2.4%). No live birth resulted in 14 pregnancies associated with oligohydramnios and no visible fetal bladder. Of those with renal agenesis or bilateral cystic dysplasia, one had a chromosome defect and a further four had extrarenal anomalies. Nine fetuses demonstrated isolated parenchymal hyperechogenicity and trisomy occurred in two of four with bilateral change in enlarged kidneys. All 14 babies with unilateral renal cysts had normal renal function postnatally, but only three of the cystic kidneys showed function. Antenatally, typical multicystic change was seen in 10, and smaller unevenly distributed cysts in four kidneys. Contralateral parenchymal echogenicity and/or pelvicalyceal distension indicating dysplasia was identified in four fetuses. Of 78 fetuses with isolated pelvic with or without calyceal distension the outcome was completely normal in 59% with unilateral, and in 48% with bilateral changes. One baby with unilateral and three with bilateral changes required dialysis or renal transplantation. One of four babies with antenatal ureteric distension had renal failure. Only one of six fetuses with bladder distension is alive in renal failure after in utero stenting.
British Journal of Radiology 06/1998; 71(845):497-500. · 1.22 Impact Factor
[show abstract][hide abstract] ABSTRACT: During the 10 years 1984-1993, a total of 438 fetuses and children with a congenital abnormality, identified antenatally or in the first year of life, were registered from the North Tees Health District with the Northern Region Congenital Abnormality Survey (NorCAS). This represented an abnormality rate of 2% of all births. In total, 252 structural abnormalities (57.5%) were detected by antenatal ultrasound examination. In spite of a targeted education programme, identification of cardiac lesions remained poor. The detection of structural abnormality by antenatal scan rose from 52% in 1984 to 85% in 1993, due mainly to improvements in image quality and resolution of ultrasound equipment. Also important was audit, based both on review of images and feedback from a comprehensive central register (NorCAS).
British Journal of Radiology 05/1997; 70(832):341-6. · 1.22 Impact Factor
[show abstract][hide abstract] ABSTRACT: One hundred and twenty abdominal wall defects were notified to the Northern Region Fetal Abnormality Survey in the five years 1988 to 1992. Gastroschisis occurred in 56, exomphalos in 43, amnion rupture in 11, ectopia vesicae in seven and ectopia cordis in three. Ultrasound failed to identify gastroschisis in 14 and incorrectly diagnosed exomphalos in eight. There was no associated chromosome abnormality and the survival rate, excluding first trimester loss, was 87%. Ultrasound failed to identify exomphalos in ten and incorrectly diagnosed gastroschisis in two. Another structural abnormality was present in 40% and a chromosome anomaly in 28%. Excluding spontaneous first trimester loss, the survival rate was 34%. Delivery of babies away from the regional paediatric surgical centre did not adversely affect the outcome in gastroschisis or exomphalos although closure was delayed, on average, by 2 h. There was one survivor of 11 fetuses with amnion rupture sequence. Six of the seven babies with ectopia vesicae and two of the three with ectopia cordis survived.
[show abstract][hide abstract] ABSTRACT: The antenatal ultrasound findings in a fetus which postnatally had fusiform megalourethra, rectal agenesis, recto-vesical fistula and unilateral renal hypoplasia are described. At 16 weeks gestation a cystic area was seen arising from the perineum. It later became evident that this was the urethra. Initially, an echogenic mass was noted in the pelvis, but by the second trimester, fluid-filled loops of bowel were evident. This combination of developmental abnormalities though rare is well defined. Only one previously recorded case has been suspected antenatally.
[show abstract][hide abstract] ABSTRACT: This study analyses 7 years of data relating to congenital diaphragmatic herniation in the Northern Region. Ninety-nine confirmed cases were notified to the Northern Region Fetal Abnormality Survey between 1985 and 1991, which is an incidence of 0.35 per 1000 births. A specific diagnosis of CDH was made by antenatal ultrasound in 21 fetuses. The rate of detection improved from 6% to 41% but this had no impact on survival; severe pulmonary hypoplasia was found in the majority dying in the first 48 h. Another structural abnormality occurred in 29% and was the primary antenatal scan diagnosis in 11 fetuses. No other reliable indicator of outcome was identified, including the gestation when detected. The incidence of chromosomal abnormality was 5% and Fryns' syndrome 4%.