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Introduction: To date, no consensus has been reached on the optimal management of congenital lung abnorm

Prenatal detection of a congenital anomaly offers the possibility of early parental counseling and of optimizing postnatal care. When counseling expectant parents, it is important to know how to interpret certain prenatal characteristics, and to be aware of the implications of the anomaly in terms of survival, hospital outcome, and long-term consequences. Prenatal detection rates of abdominal wall defects (AWD; i.e. gastroschisis or omphalocele) and congenital lung malformations (CLM) are relatively high, but not so much is known on the long-term outcome of children born with either of these anomalies. This thesis aims to improve the knowledge on prenatal characteristics and long-term outcome of AWD and CLM, with the ultimate aim to optimize parental counselling and postnatal follow-up. We asked ourselves two general key questions: • Can we identify prenatal characteristics that contribute to the prediction of postnatal morbidity? • What kind of long-term morbidity is seen in these children?

Objective: To determine whether complex gastroschisis (ie, intestinal atresia, perforation, necrosis, or volvulus) can prenatally be distinguished from simple gastroschisis by fetal stomach volume and stomach-bladder distance, using three-dimensional (3D) ultrasound. Methods: This multicenter prospective cohort study was conducted in the Netherlands between 2010 and 2015. Of seven university medical centers, we included the four centers that performed longitudinal 3D ultrasound measurements at a regular basis. We calculated stomach volumes (n = 223) using Sonography-based Automated Volume Count. The shortest stomach-bladder distance (n = 241) was determined using multiplanar visualization of the volume datasets. We used linear mixed modelling to evaluate the effect of gestational age and type of gastroschisis (simple or complex) on fetal stomach volume and stomach-bladder distance. Results: We included 79 affected fetuses. Sixty-six (84%) had been assessed with 3D ultrasound at least once; 64 of these 66 were liveborn, nine (14%) had complex gastroschisis. With advancing gestational age, stomach volume significantly increased, and stomach-bladder distance decreased (both P <.001). The developmental changes did not differ significantly between fetuses with simple and complex gastroschisis, neither for fetal stomach volume (P =.85), nor for stomach bladder distance (P =.78). Conclusion: Fetal stomach volume and stomach-bladder distance, measured during pregnancy using 3D ultrasonography, do not predict complex gastroschisis.

Objective: To determine the predictive value of the fetal omphalocele circumference/abdominal circumference (OC/AC) ratio for type of surgical closure and survival and to describe the trajectory of OC/AC ratio throughout gestation. Methods: This cohort study included all live-born infants prenatally diagnosed with an omphalocele in our tertiary centre (2000–2017) with an intention to treat. The OC/AC ratio and liver position were determined using 2D ultrasound at three periods during gestation (11–16, 17–26, and/or 30–38 weeks). Primary outcome was type of closure; secondary outcome was survival. In the secondary analyses, the predictive value of the OC/AC-ratio trend for type of closure and survival was assessed. Results: Primary closure was performed in 37/63 (59%) infants, and 54/63 (86%) survived. The OC/AC ratio was predictive for type of closure and survival in all periods. Optimal cut-off values for predicting closure decreased throughout gestation from 0.69 (11–16 weeks) to 0.63 (30–38 weeks). Repeated OC/AC-ratio measurements were available in 33 (73%) fetuses. The trend of the OC/AC ratio throughout gestation was not significantly associated with type of closure. All infants without liver herniation underwent primary closure. Conclusion: Type of omphalocele surgical closure and survival can be predicted prenatally on the basis of the OC/AC ratio and liver herniation independent of associated anomalies. Learning objective: The reader will be able to use the OC/AC ratio throughout gestation in all omphalocele cases for prediction of type of closure and survival and thus patient counselling.

Objective: To improve counseling on congenital lung malformations (CLM) by describing long-term outcomes of children either operated on or managed by observation. Study design: We analyzed lung function (spirometry), exercise tolerance (Bruce treadmill), and physical growth of 8-year-old children with CLM who participated in our longitudinal prospective follow-up program. The data are shown as median standard deviation scores (SDS) with IQR, or estimated marginal means (95% CI) on the basis of general linear models. Results: Twenty-nine (48%) of the 61 children had required surgery at a median age of 108 (IQR: 8-828) days, and 32 (52%) were managed by observation. In the surgery group, all lung function measurements (except for forced vital capacity [FVC]) were significantly below 0 SDS, with median FEV1 −1.07 (IQR: −1.70 to −0.56), FEV1/FVC −1.49 (−2.62 to −0.33), and FEF25%-75% −1.95 (−2.57 to −0.63) (all P < 0.001). Children in the observation group had normal FEV1 and FVC, whereas FEV1/FVC (−0.81 (−1.65 to −0.14)) and FEF25%-75% (−1.14 (−1.71 to −0.22)) were significantly below 0 SDS (both P < 0.001). Mean exercise tolerance was significantly below 0 SDS in both groups (observation: −0.85 (95% CI: −1.30 to −0.41); surgery: −1.25 (−1.69 to −0.80)); eight (28%) children in the observation group and ten (40%) in the surgery group scored <−1 SDS. Physical growth was normal in both groups. Conclusion: Children with CLM may be at risk for reduced lung function and exercise tolerance, especially those who required surgery. As little pulmonary morbidity was found in children with asymptomatic CLM, this study supports a watchful waiting approach in this group.

Objectives: To compare the prenatal frame of reference of omphalocele (ie, survival of fetuses) with that after birth (ie, survival of liveborn neonates), and to assess physical growth and neurodevelopment in children with minor or giant omphalocele up to 2 years of age. Design: We included fetuses and neonates diagnosed in 2000-2012. Physical growth (SD scores, SDS) and mental and motor development at 12 and 24 months were analysed using general linear models, and outcomes were compared with reference norms. Giant omphalocele was defined as defect ≥5 cm, with liver protruding. Results: We included 145 fetuses and neonates. Of 126 (87%) who were diagnosed prenatally, 50 (40%) were liveborn and 35 (28%) survived at least 2 years. Nineteen (13%) neonates were diagnosed after birth. Of the 69 liveborn neonates, 52 (75%) survived and 42 children (81% of survivors) were followed longitudinally. At 24 months, mean (95% CI) height and weight SDS were significantly below 0 in both minor (height: -'0.57 (-'1.05 to -0.09); weight: -'0.86 (-'1.35 to -0.37)) and giant omphalocele (height: -'1.32 (-'2.10 to -0.54); weight: -'1.58 (-'2.37 to -0.79)). Mental development was comparable with reference norms in both groups. Motor function delay was found significantly more often in children with giant omphalocele (82%) than in those with minor omphalocele (21%, P=0.002). Conclusions: The prenatal and postnatal frames of reference of omphalocele differ considerably; a multidisciplinary approach in parental counselling is recommended. As many children with giant omphalocele had delayed motor development, we recommend close monitoring of these children and early referral to physical therapy.