M. Dommergues

Fetal lung volume measurement by magnetic resonance imaging in congenital diaphragmatic hernia

Objective To study the potential for prenatal magnetic resonance imaging to predict pulmonary hypoplasia in congenital diaphragmatic hernia.

Three‐dimensional ultrasonographic assessment of fetal lung volume as prognostic factor in isolated congenital diaphragmatic hernia

Objectiveu2003 To evaluate the potential of three‐dimensional ultrasound to predict outcome in congenital diaphragmatic hernia.

Accuracy of fetal lung volume assessed by three-dimensional sonography

To determine the accuracy and precision of prenatal three‐dimensional (3D) ultrasound in estimating fetal lung volume using the rotational multiplanar technique (VOCAL™) by comparing it to postmortem volume measurements.

A nomogram of fetal lung volumes estimated by 3-dimensional ultrasonography using the rotational technique (virtual organ computer-aided analysis).

Objective. The purpose of this study was to build a nomogram of normal fetal lung volumes throughout gestational age estimated by 3‐dimensional ultrasonography using the rotational technique (Virtual Organ Computer‐Aided Analysis [VOCAL]; GE Healthcare, Kretztechnik, Zipf, Austria). Methods. Fetal lung volume was assessed in 146 healthy fetuses by 3‐dimensional ultrasonography using the technique of rotation of the multiplanar imaging (VOCAL). Inclusion criteria were healthy women with singleton normal pregnancies, normal fetal morphologic ultrasonographic findings, reliable dating established by dates and by ultrasonographic measurement of the crown‐lump length in the first trimester, and gestational age from 20 to 37 weeks. Exclusion criteria were discordance between clinical and ultrasonographic dating, patients lost to follow‐up, and birth weight disorders. Each patient was scanned once during pregnancy. Results. The right, left, and total mean pulmonary volumes ranged, respectively, from 5.37, 4.66, and 9.95 cm3 at 20 weeks to 46.06, 37.34, and 84.35 cm3 at 37 weeks. The logistic transformation analysis yielded the following formulas: right lung volume = exp(4.07/[1 + exp(21.90 − gestational age/5.44)]); left lung volume = exp(3.82/(1 + exp[22.03 − gestational age/5.17)]); and, total lung volume = exp(4.72/[1 + exp(20.30 − gestational age/6.05)]). Conclusions. A new nomogram of fetal lung (right, left, and total) volumes throughout gestational age using the rotational technique (VOCAL) is described, and reference values have been generated.

Congenital cystic adenomatoid malformation of the lung: Prenatal management and prognosis☆

Thirty-two cases of congenital cystic adenomatoid malformation of the lung diagnosed antenatally are reported. Antenatal diagnosis has made it possible to document the progress of the condition in utero and the postnatal prognosis. It has been possible to advise on termination and intrauterine intervention, to counsel the parents, and to plan arrangements for delivery and postnatal care among obstetricians, neonatologists, and pediatric surgeons. According to Stockers classification there were 12 cases of type I, 15 of type II, and 5 of type III. Five pregnancies were terminated. Antenatal drainage of a cyst was performed in four patients with two survivors. Thirteen babies showed relative regression of the cyst as pregnancy progressed. After delivery the extent of the cystic malformation was assessed by chest x-rays and computed tomography scanning in 25 and angiography in 6. Treatment consisted of observation in 4, embolization in 2, operation as an emergency in 3, and electively around 4 months in 15.

Sonographic prenatal diagnosis of central nervous system abnormalities

Introduction Over the past 20 years, the spectrum of neonatal neurological malformations has changed due to the diffusion of ultrasound, performed either routinely or as required by maternal alpha-fetoprotein screening or history.DiscussionWe review and illustrate the potential of ultrasound for the prenatal diagnosis of abnormalities in size or shape of the skull (macrocephaly, microcephaly, craniostenosis), neural tube defects, ventriculomegaly, hydrocephalus, posterior fossa defects (abnormalities in the size of the cisterna magna, cerebellar abnormalities), midline abnormalities (holoprosencephaly, abnormalities of the corpus callosum), ischemic lesions and hemorrhage, tumours, and focalized hyperechogenic images. The limits of fetal ultrasound screening and of the various diagnostic strategies implemented when a fetal brain abnormality is suspected are discussed. Overall, gross lethal abnormalities such as anencephaly or major hydrocephaly are accessible to prenatal sonographic screening, and nearly always result in termination of the pregnancy. However, hydrocephaly may progress late in gestation and remain undiscovered unless a third trimester ultrasound is performed. A majority of cases with myelomeningocele are diagnosed prenatally, resulting either in termination of the pregnancy or in neonatal management. A growing number of more subtle abnormalities, including midline or posterior fossa abnormalities can be spotted by fetal ultrasound, but their postnatal outcome cannot always be predicted accurately, despite the use of fetal magnetic resonance imaging. In such cases, a trans-disciplinary approach involving perinatologists, pediatric radiologists, neuropathologists, neurosurgeons or neurologists familiar with neonates is crucial to counseling the parents. Some brain abnormalities are still extremely difficult or even impossible to diagnose in utero despite advances in sonographic imaging. This is due to the fact that severe neurological impairment may result from conditions that do not affect substantially affect the morphology of the brain, and that major structural abnormalities may develop late in gestation, and thus remain undetected at second trimester ultrasound.ConclusionUltrasound screening identifies a growing number of central nervous system abnormalities, resulting in substantial changes in the neonatal presentation of neurological congenital abnormalities.

Genotyping microsatellite DNA markers at putative disease loci in inbred/multiplex families with respiratory chain complex I deficiency allows rapid identification of a novel nonsense mutation (IVS1nt −1) in the NDUFS4 gene in Leigh syndrome

Complexxa0I deficiency, the most common cause of mitochondrial disorders, accounts for a variety of clinical symptoms and its genetic heterogeneity makes identification of the disease genes particularly tedious. Indeed, most of the 43 complexxa0I subunits are encoded by nuclear genes, only seven of them being mitochondrially encoded. In order to offer urgent prenatal diagnosis, we have studied an inbred/multiplex family with complexxa0I deficiency by using microsatellite DNA markers flanking the putative disease loci. Microsatellite DNA markers have allowed us to exclude the NDUFS7, NDUFS8, NDUFV1 and NDUFS1 genes and to find homozygosity at the NDUFS4 locus. Direct sequencing has led to identification of a homozygous splice acceptor site mutation in intronxa01 of the NDUFS4 gene (IVS1nt −1, G→A); this was not found in chorion villi of the ongoing pregnancy. We suggest that genotyping microsatellite DNA markers at putative disease loci in inbred/multiplex families helps to identify the disease-causing mutation. More generally, we suggest giving consideration to a more systematic microsatellite analysis of putative disease loci for identification of disease genes in inbred/multiplex families affected with genetically heterogeneous conditions.

Serial transabdominal amnioinfusion in the management of gastroschisis with severe oligohydramnios

Two fetuses with gastroschisis diagnosed in utero (at 19 weeks gestation) had severe oligohydramnios at 30 to 31 weeks. Serial transabdominal amnioinfusions were performed to fill the amniotic cavity with saline, thereby avoiding the potential consequences of fetal exposure to severe oligohydramnios. In both cases, premature rupture of membranes occurred at 36 weeks, and the fetuses were delivered by cesarean section. There were minimal lesions of the extraabdominal bowel. After primary closure of the abdomen, the postoperative course was uneventful. These observations show that serial amnioinfusion is a feasible therapeutic approach for severe third-trimester oligohydramnios associated with gastroschisis.

Tracheal obstruction in experimental diaphragmatic hernia: an endoscopic approach in the fetal lamb

Congenital diaphragmatic hernia (CDH) is associated with a neonatal mortality of up to 50 per cent resulting from pulmonary hypoplasia. Experimental ligation of the trachea increases pulmonary growth in fetuses with experimental diaphragmatic hernia (EDH). To provide a potentially reversible tracheal occlusion (TO) using a minimally invasive procedure, we designed the endoscopic placement of a latex tracheal balloon in fetal lambs with EDH. Following surgical creation of a left EDH at 85 days gestation, endoscopic occlusion of the fetal trachea was performed at 120 days. The fetuses were retrieved at 139 days. The procedure was successful in 5/11 attempts, resulting in liveborns in which the balloon occluded the trachea completely with expanded lungs and reduction of the herniated viscera into the abdomen. These cases were compared with five cases of EDH without TO and six controls. In the TO group, the lung weight was significantly greater but the radial alveolar count, DNA content, and protein content were similar to normal controls. All lung growth parameters were greater in the TO than in the EDH group. Occlusion of the trachea using an endoscopic technique could provide a useful alternative to open fetal surgery in fetuses with CDH.

Prenatal diagnosis of pulmonary sequestration using three-dimensional power Doppler ultrasound

To investigate the contribution of three‐dimensional power Doppler ultrasound to the prenatal diagnosis of pulmonary sequestration.