Prenatal ultrasound detection of facial clefts: a prospective study of 49,314 deliveries in a non-selected population in Norway.

OBJECTIVES: To evaluate prenatal detection of facial clefts by ultrasound examination in a large non-selected population, and to study trends in detection rates over 18 years, as well as the prevalence of isolated cases and those with associated anomalies. METHODS: This prospective follow-up study from January 1987 to December 2004 was divided into two 9-year periods. The study included all registered cases of prenatally or postnatally diagnosed facial clefts in a non-selected population in Norway. RESULTS: A total of 101 fetuses or newborns with facial clefts in a population of 49 314 deliveries were registered. The distribution of clefts was: 25 (25%) cleft lip, 52 (51%) cleft lip and palate, and 24 (24%) cleft palate (CP). No CP was detected prenatally. Cleft lip with or without cleft palate (CL(P)) was detected prenatally in 35/77 (45%) cases, with a significant increase in the detection rate from 34% to 58% between the two 9-year periods (P = 0.03). Over the whole study period CL(P) was detected at a median of 19 + 2 gestational weeks, with no change over time; altogether 24/35 (69%) cases were detected at the routine second-trimester ultrasound examination. Thirty-three of 77 (43%) cases of CL(P) and 14/24 (58%) cases of CP had associated anomalies; 12/101 (12%) had chromosomal aberrations. In 18/101 (18%) the clefts were part of a syndrome or sequence. CONCLUSIONS: The detection rate for CL(P) improved significantly over time. Detection of CL(P) is important because nearly half the cases have associated anomalies.

Prenatal detection of heart defects in a non-selected population of 30,149 fetuses--detection rates and outcome.

OBJECTIVES: To evaluate the detection rate of congenital heart defects (CHD) in a non-selected population and to follow outcome after diagnosis. METHODS: All 30,149 fetuses/newborns that were scheduled to deliver at our hospital between February 1991 and December 2001 were registered prospectively. Of these, 29,460 (98%) fetuses had a prenatal ultrasound scan at our center. The routine fetal examination at approximately 18 weeks' gestation included the four-chamber view and the great arteries of the fetal heart. The follow-up period was 2-13 years. RESULTS: Of 97 major CHDs, 55 (57%) were detected prenatally, 16% (9/55) prior to, 66% (36/55) at and 18% (10/55) after the routine scan. Forty-four percent (19/43) of the isolated CHDs, 67% (36/54) of those with associated malformations and 48% (11/23) of the isolated ductal-dependent CHDs were detected. Thirty-eight percent (37/97) had an abnormal karyotype. Of the 55 major CHDs detected, 44% (24) of the pregnancies with lethal/serious fetal malformations were terminated, 15% (8) died in utero, 42% (23) were born alive and 27% (15) were still alive after 2 years. Of the 42 CHDs detected postnatally, 2% (1) were terminated for other reasons, 98% (41) were born alive and 81% (34) were still alive after 2 years. CONCLUSIONS: Prenatal detection of CHD is still a challenge, with a 57% detection rate only. Isolated defects are detected less frequently. The overall outcome suggests that the most severe defects are detected with the present screening setting; only 27% of the babies with major CHDs detected were still alive after 2 years. Data from long-term follow-up will be of importance for the counseling process.

Universal or selective screening of the neonatal hip using ultrasound? A prospective, randomised trial of 15,529 newborn infants.

The aim of this study was to evaluate whether universal (all neonates) or selective (neonates belonging to the risk groups) ultrasound screening of the hips should be recommended at birth. We carried out a prospective, randomised trial between 1988 and 1992, including all newborn infants at our hospital. A total of 15 529 infants was randomised to either clinical screening and ultrasound examination of all hips or clinical screening of all hips and ultrasound examination only of those at risk. The effect of the screening was assessed by the rate of late detection of congenital or developmental hip dysplasia in the two groups. During follow-up of between six and 11 years, only one late-detected hip dysplasia was seen in the universal group, compared with five in the subjective group, representing a rate of 0.13 and 0.65 per 1,000, respectively. The difference in late detection between the two groups was not statistically significant (p = 0.22). When clinical screening is of high quality, as in our study, the effect of an additional ultrasound examination, measured as late-presenting hip dysplasia, is marginal. Under such circumstances, we consider that universal ultrasound screening is not necessary, but recommend selective ultrasound screening for neonates with abnormal or suspicious clinical findings and those with risk factors for hip dysplasia.

[Children and adolescents with Down syndrome in Sør-Trøndelag 1978-97]. / Barn og unge med Downs syndrom i Sør-Trøndelag 1978-97.

Ultrasound examination offered to nearly all pregnant women in Norway may lead to the identification of fetuses with Down's syndrome. This may lead to termination of pregnancies and to a reduction in the prevalence of live-borns with Down's syndrome. In a retrospective study of hospital records we have examined the prevalence of Down's syndrome, associated malformations and diseases during the last 20 years. 68 children and adolescents with Down's syndrome were identified. 43 were born 1988-97 (1.16 per 1,000 births) and 25 1978-87 (0.8 per 1,000 births; p = 0.13). Congenital heart defects were diagnosed in 33 children (49%). Five children (7.4%) had died by the end of 1997, four with a cardiovascular defect. Four children had moved out of the region. Among 59 persons alive at the time of study, 11 (19%) were treated for hypothyroidism, 26 (44%) had been hospitalised because of infections, and 14 (20%) suffered from problems with sleep obstruction. 23 (39%) had impairments in hearing and 30 (51%) in vision. Ten children (18%) had a weight-for-height above the 97.5 percentile of standard growth charts for Norwegian children. Serum concentration of zink was below reference values in 15 children. We conclude that the prevalence of livebirths with Down's syndrome was not reduced in 1988-97 compared to 1978-87. Children with Down's syndrome have a wide range of somatic disorders and need close and systematic medical follow-up.

Ultrasonography of clinically unstable hips. A prospective study of 143 neonates at birth and early follow-up.

We evaluated the ability of ultrasonography to reduce the treatment rate of hips with clinical instability or uncertain findings at birth. Among 9,514 live births during the period 1988-1990, unstable hips were detected in 143 neonates by the Ortolani and Barlow tests, whereas the physical examination was inconclusive in 59 cases. These 202 neonates were also examined by ultrasound and instability was confirmed in 108 neonates who were treated with the Frejka pillow. The mean femoral head coverage (FHC) was 37%, indicating slight subluxation in the majority of unstable hips. The remaining 94 infants had normal ultrasonographic findings and were not treated. Their mean FHC was 53% and all these hips developed normally, except in 2 girls, who were treated with an abduction splint from age 4-5 months because subluxation developed. We conclude that ultrasound improved the reliability of the neonatal hip evaluation, thus markedly reducing the number of treated infants. Sonography also reduced the use of radiography during followup.

Ultrasonographic evaluation of breech presentation as a risk factor for hip dysplasia.

In order to gain more information of breech position as a risk factor for congenital hip dysplasia or dislocation, the hips of 408 newborns delivered in the breech position were examined by ultrasound. Clinical examination was performed by both experienced paediatricians and orthopaedic surgeons. The infants were re-examined by ultrasound at 2-3 months of age. Twenty-five newborns (6.1%) had neonatal hip instability. Breech presentation as a risk factor was confirmed, with first borns, breech position with extended knees, and high birthweight as special high-risk groups. Ultrasound showed subluxation in most of the unstable hips. The main benefit of using ultrasound was that direct visualization permitted more reliable evaluation, especially when the clinical findings were uncertain. Normal ultrasound findings in false positive and uncertain Ortolani tests reduced the frequency of unnecessary treatment. Because ultrasound was used in follow-up, the need of radiography was reduced. There were no late-detected cases of hip dysplasia or dislocation, indicating that routine follow-up is not necessary in breech infants with normal hips at birth, provided that the neonatal screening is optimal.

Prenatal detection of heart defects at the routine fetal examination at 18 weeks in a non-selected population.

Few studies have addressed the prenatal detection rate of congenital heart defects in a non-selected population at 18 weeks of gestation. Our objective was to assess the change in the prenatal detection rate of congenital heart defects in such a population that resulted from incorporating the four-chamber view at the second-trimester routine ultrasound examination. The prenatal detection rate of heart defects was prospectively compared between 4435 fetuses in Phase I who were scanned without special attention to the heart, and 7459 fetuses in Phase II who were scanned incorporating the four-chamber view. Of the 49 heart defects in Phase 1, 17 (35%) were critical and three (18%) of these were detected prenatally. Of the 90 heart defects in Phase II, 23 (26%) were critical, six (26%) of these were detected prenatally at the 18 weeks' routine scan, and three were detected in the third trimester, providing a total prenatal detection rate of 39%. A defect was classified as critical when a surgical repair was likely to be required because of gross structural complexity having a functional significance, e.g. transposition of the great arteries, hypoplastic left heart syndrome, atrioventricular septal defect, coarctation of the aorta, and large ventricular septal defect. No non-critical heart defects were detected prenatally in either of the phases. The incidences in the total population were 11 and 12/1000 in Phases I and II, respectively. Thirty-two per cent of the critical and 16% of the non-critical defects had associated abnormalities and/or abnormal karyotype.(ABSTRACT TRUNCATED AT 250 WORDS)

Phototherapy-associated changes in mesenteric blood flow response to feeding in term neonates.

Doppler blood flow velocity of the superior mesenteric artery was measured preprandially and postprandially in 12 term neonates during phototherapy and 4 hours after discontinuation of this therapy. The postprandial increase in blood flow velocity was significantly less during than after phototherapy. We suggest that the phototherapy-induced peripheral vasodilation may be responsible for diverting blood from the intestines and limiting the normal neonatal postprandial response.

Late relapses after treatment for acute lymphoblastic leukemia in childhood: a population-based study from the Nordic countries.

Seven late relapses of acute lymphoblastic leukemia occurring 5.5 to 12.3 years after cessation of therapy are reported in 986 patients who had discontinued treatment for leukemia acquired before the age of 15. The study covers patients from the five Nordic countries. Of the 434 patients with ALL who had passed 5 years of follow-up without recurrence, seven have subsequently relapsed so far; an estimated cumulative proportion of 6.9% within the 10 years. In addition, we report a girl 15.9 years old at diagnosis who relapsed 7.3 years after cessation of therapy. These findings confirm that "cure" of acute lymphoblastic leukemia treated in the 1970s cannot be considered definite, even 5 years after discontinuation of therapy.

Relapse rate after cessation of therapy in childhood leukemia. A material from the five Nordic countries.

The experience of four hundred and ninety children from the Nordic countries who had their antileukemic therapy stopped prior to January 1981 is presented. The observation times after stopping therapy were between 1 month and 19 years. One hundred and five children (21.4%) relapsed before January 1981. No children relapsed later than four years after cessation of therapy. The calculated long term relapse rate is 28%.

Relapse rate after cessation of therapy in childhood leukemia. A follow-up report on 277 cases from the five Nordic countries.

Two hundred and seventy-seven children from the Nordic countries who had their antileukemic therapy stopped before January 1979 were surveyed. The children were in remission when therapy was discontinued. So far 64 (23.1%) have relapsed. Central nervous system (CNS) and testicular leukemia have been a problem, but CNS-prophylaxis has been in common use in the Nordic countries only since 1972-1973. Most of the patients relapsed during the first year after stopping therapy, whereas no patient relapsed later than 4 years after cessation of therapy.