Annelieke Hijkoop

Introduction

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. Most of the presented studies made use of data from the longitudinal multidisciplinary follow-up program at the Erasmus MC-Sophia Children’s Hospital.

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?

The research described in this thesis is divided into three parts: gastroschisis, omphalocele, and congenital lung malformations.

Gastroschisis

Can we identify prenatal 2D or 3D ultrasound markers of complex gastroschisis?

Chapter 2 describes the findings of a longitudinal, prospective cohort study, in which we investigated whether prenatal three-dimensional (3D) ultrasound could distinguish complex gastroschisis from simple gastroschisis. A previous study using magnetic resonance imaging showed stomach-bladder contact in all fetuses with gastroschisis in the third trimester, except for those with intestinal stenosis; their abdominal cavity was filled with dilated bowel loops. We hypothesized that complex gastroschisis would lead to stomach dilatation – which is difficult to measure using two-dimensional ultrasound – and to an increased stomach-bladder distance. We assessed the fetal stomach volume and stomach-bladder distance throughout gestation. With advancing gestational age, the stomach volume increased, and the stomach-bladder distance decreased. The developmental changes in stomach volume and stomach bladder distance did not differ between fetuses with simple and complex gastroschisis.

In chapter 3 we evaluated the association between gestational-age corrected two-dimensional (2D) ultrasound markers and complex gastroschisis. We determined the presence of either gastric dilatation or bowel dilatation using gestational-age specific