Detection of congenital anomalies before or after birth; does it make a difference?

Ultrasound has made it possible to detect structural anomalies in the fetus. In the Netherlands universal population based screening for congenital anomalies was only introduced at the beginning of 2006, which was the reason why prior to this period many congenital anomalies were detected either late in pregnancy or sometimes only at birth. This situation set the scene to investigate whether the outcome of minor and major anomalies was altered by a prenatal detection versus a detection at birth. We investigated the outcome of six major and one minor anomaly. We defined the anomalies as isolated or associated, if either other anomalies or an abnormal karyotype were also present. Prenatal detected spina bifida, associated omphalocele and associated clubfoot revealed a high percentage of terminated pregnancies, intrauterine and neonatal death and survival varied between 14 and 28%. When these anomalies were detected at birth the survival varied between 81 and 100%. Outcome for liveborn infants with a pre- or postnatally diagnosed isolated duodenal obstruction (DO) or gastroschisis was not essentially different despite more prematurity in the prenatal DO group. Adapting prenatal management for gastroschisis may reduce the 10% intrauterine death rate. The morbidity for prenatally detected isolated clubfoot and multicystic dysplastic kidney was reduced due to early confirmation and treatment in a specialized center. Prenatal selection of cases with mild renal pyelectasis at risk of pathology reduced morbidity. In conclusion, depending on the anomaly a prenatal diagnosis may increase or reduce mortality. For a number of anomalies the morbidity will be reduced

Yasuhiro Sakai, Economic Thought of Risk and Uncertainty

markdownabstractAbstract Flow velocity waveforms from the left and right uterine artery were studied relative to transcervical chorionic villus sampling (CVS) between 9 and 11 weeks of gestation in 12 uncomplicated pregnancies and 5 pregnancies resulting in second trimester fetal loss. There was no significant difference in mean pulsatility index (PI) as a measure of downstream impedance, between the left and right uterine artery. There were also no significant changes in PI relative to the CVS procedure both in uncomplicated pregnancies and in pregnancies ending in second trimester fetal loss

Spontaneous abortion rate and advanced maternal age: Consequences for prenatal diagnosis

Abstract Maternal age related and procedure-related fetal abortion rates were studied in 384 women aged 36 and over scheduled for transabdominal chorionic villus sampling (TA-CVS) at 12-14 weeks of gestation. The pre-TA-CVS abortion rate within 30 days of intake (at 6-10 weeks of gestation) rose from 1·9% at age 35-36 years to 10·9% at 40 years and older. Women entering in the 6th week of gestation had a greater probability of aborting before TA-CVS than women entering after day 48. 26 women aborted spontaneously before TA-CVS, the majority of abortions occuring at 10-12 weeks. TA-CVS was done in 346 women. 11 pregnancies were terminated because of genetic anomalies, and 8 women had spontaneous fetal loss. These findings justify delaying prenatal diagnosis in older pregnant women until 12 weeks of gestation

Undetected anomalies in foetuses with a prenatal diagnosis of isolated cleft

The aim of this study was to determine the rate of undetected additional anomalies following a prenatal diagnosis of isolated oral cleft. Data of all infants with a prenatal diagnosis of isolated oral cleft born between 2000 and 2015 were studied retrospectively. Additional anomalies detected after birth were categorized as minor or major and included structural and chromosomal anomalies. Isolated clefts of the lip (CL), lip and alveolus (CLA) and lip, alveolus, and palate (CLAP) were diagnosed prenatally in 176 live-born infants. The type of cleft was more extensive after birth in 34/176 (19.3%) and less extensive in 16/176 (9.1%) newborns. Additional anomalies were diagnosed in 24 infants (13.6%), of which 12 (6.8%) were categorized as major. The latter included two submicroscopic chromosome anomalies and two gene mutations. Postnatal additional anomalies occurred more frequently in CLA and CLAP than in CL, and more in bilateral than in unilateral clefts. Major anomalies are still found in infants with a prenatal diagnosis of an isolated oral cleft. The prevalence of additional anomalies seems to be related to the type and bilaterality of the cleft, and this should be considered during prenatal counselling

Sonographically determined anomalies and outcome in 170 chromosomally abnormal fetuses

Structural pathology and outcome were studied in 170 chromosomally abnormal fetuses. Numerical chromosomal abnormalities were established in 158 (93 per cent) cases, of which 110 (71 per cent) represented trisomies, 30 (18 per cent) Turner syndrome, and 18 (11 per cent) triploidy. Structural chromosomal abnormalities were diagnosed in 12 (7 per cent) cases. Gestational age at referral was significantly shorter for pregnancies with Turner syndrome than for the other chromosomal abnormalities. Referral before 20 weeks of gestation was mainly based on fetal structural pathology alone (92 per cent); after 20 weeks, patients were referred because of structural pathology combined with small for gestational age, oligohydramnios, or polyhydramnios. Referral as a result of suspected multiple organ pathology occurred in 73.5 per cent of pregnancies. An abnormal amniotic fluid volume was present in 59/170 (34.5 per cent) chromosomally affected pregnancies, i.e., oligohydramnios in 31 and polyhydramnios in 28 cases. Birth weight was below the tenth percentile in over half of the chromosomally abnormal fetuses, except for Turnersyndrome. Fetal outcome was poor, with a survival rate at 1 month of 30 per cent for trisomies which was mainly determined by trisomy 21 (14/18=77.5 per cent)

Increased prevalence of abnormal vertebral patterning in fetuses and neonates with trisomy 21

Purpose: To assess the prevalence of an abnormal number of ribs in a cohort of fetuses and neonates with trisomy 21 and compare this with a subgroup of fetuses without anomalies. Materials and methods: Radiographs of 67 deceased fetuses, neonates, and infants that were diagnosed with trisomy 21 were reviewed. Terminations of pregnancy were included. The control group was composed of 107 deceased fetuses, neonates, and infants without known chromosomal abnormalities, structural malformations, infections or placental pathology. Cases in which the number of thoracic ribs or presence of cervical ribs could not be reliably assessed were excluded. The literature concerning vertebral patterning in trisomy 21 cases and healthy subjects was reviewed. Results: Absent or rudimentary 12th thoracic ribs were found in 26/54 (48.1%) cases with trisomy 21 and cervical ribs were present in 27/47 (57.4%) cases. This prevalence was significantly higher compared to controls (28/100, 28.0%, Χ2(1) = 6.252, p = .012 and 28/97, 28.9%, Χ2(1) = 10.955, p < .001, respectively). Conclusions: Rudimentary or absent 12th thoracic ribs and cervical ribs are significantly more prevalent in deceased fetuses and infants with trisomy 21

Tracheal agenesis: approach towards this severe diagnosis. Case report and review of the literature

Tracheal agenesis (TA) is a severe congenital disorder with often an unexpected emergency presentation. There is complete or partial absence of the trachea below the larynx, with presence or absence of a tracheoesophageal fistula (TOF). A neonate with TA is described, and another 48 cases found in literature are reviewed. Due to absence of a TOF, five cases were diagnosed prenatally because of congenital high airway obstruction syndrome (CHAOS). When a TOF is present, polyhydramnion and several other congenital malformations seen on the ultrasound examination should alert clinicians of potential tracheal problems. Prenatal magnetic resonance imaging (MRI) may provide a definitive diagnosis. Postnatal diagnosis is based on recognition of specific clinical signs in the newborn with TA: respiratory distress with breathing movement without appropriate air entry, no audible cry, and failed endotracheal intubation. Despite progress in surgical interventions, mortality remains high. Prenatal diagnosis of TA is possible, but only if a TOF is absent resulting in CHAOS. Prenatal diagnosis of polyhydramnion and other congenital malformation should alert clinicians of potential tracheal problems. Prenatal MRI may provide a definitive diagnosis

Gastroschisis at school age: what do parents report?

Children with gastroschisis are at high risk of morbidity in early life, which could affect long-term outcomes. We determined parent-reported outcomes in school-aged children born in 2000–2012, using paper questionnaires. Parent-perceived child vulnerability and motor function were compared with the Dutch reference data; parent-rated data on cognition, health status, quality of life, and behavior were compared with those of controls matched for age, gender, and maternal education level. Of 77 eligible participants, 31 (40%) returned the questionnaires. Parent-reported motor function was normal in 23 (74%) children. Total scores on health status, quality of life, and behavior did not differ significantly from those of matched controls. Children with gastroschisis had lower scores on cognition (median (interquartile range); 109 (87–127)) than their matched controls (124 (113–140); p = 0.04). Neonatal intestinal failure and increased parent-perceived vulnerability were associated with lower scores on cognition (β − 25.66 (95% confidence interval − 49.41, − 1.91); − 2.76 (− 5.27, − 0.25), respectively). Conclusion: Parent-reported outcomes of school-aged children with gastroschisis were mainly reassuring. Clinicians and parents should be aware of the higher risk of cognitive problems, especially in those with neonatal intestinal failure or increased parent-perceived vulnerability. We recommend multidisciplinary follow-up at school age of children with gastroschisis and neonatal intestinal failure.What is Known:What is New: