| Literature DB >> 30694559 |
Anna Hellkvist1, Johan Wikström2, Ajlana Mulic-Lutvica3, Katharina Ericson4, Christopher Eriksson-Falkerby3, Peter Lindgren3,5, Eva Penno2, Ove Axelsson1,3.
Abstract
INTRODUCTION: Our aim was to investigate the accuracy of postmortem fetal magnetic resonance imaging (MRI) compared with fetal autopsy in second trimester pregnancies terminated due to fetal anomalies. A secondary aim was to compare the MRI evaluations of two senior radiologists.Entities:
Keywords: fetal anomalies; fetal diagnosis; postmortem fetal MRI; prenatal diagnosis; prospective study; second trimester
Mesh:
Year: 2019 PMID: 30694559 PMCID: PMC6618902 DOI: 10.1111/aogs.13548
Source DB: PubMed Journal: Acta Obstet Gynecol Scand ISSN: 0001-6349 Impact factor: 3.636
CNS cases. Diagnoses according to fetal autopsy and MRI reports by two senior radiologists including a comparison, gestational age at termination of pregnancy and days between termination and postmortem MRI and autopsy
| Case number | Diagnosis according to fetal autopsy | Most clinically significant major anomaly | MRI diagnosis by radiologist 1 | MRI diagnosis by radiologist 2 | MRI diagnosis by radiologist 1 vs fetal autopsy | MRI diagnosis by radiologist 2 vs fetal autopsy | Gestational age at termination of pregnancy (d) | Days from termination of pregnancy to MRI (d) | Days from termination of pregnancy to autopsy (d) | Prenatal ultrasound diagnosis |
|---|---|---|---|---|---|---|---|---|---|---|
| 1 | Schizencephaly | Schizencephaly | Schizencephaly | Schizencephaly | 1 | 1 | 22+5 | 0 | 3 | Hydrocephalus |
| 2 | Hydrocephalus | Cerebellar herniation | Hydrocephalus | Closure defect at lumbosacral spine | 1 | 1 | 18+1 | 0 | 3 | Myelomeningocele |
| 6 | Malignant teratoma | Malignant teratoma | Multicystic orbitotemporal tumor | Temporal tumor with mixed cystic and solid parts | 1 | 1 | 20+3 | 1 | 2 | Intracranial process |
| 7 | Cerebellar herniation | Cerebellar herniation | Cerebellar herniation | Cerebellar herniation | 1 | 1 | 17+2 | 0 | 5 | Myelomeningocele |
| 10 | Cerebellar herniation | Cerebellar herniation | Cerebellar herniation | Cerebellar herniation | 1 | 1 | 15+4 | 0 | 2 | Myelomeningocele |
| 13 | Cortical migration disturbance | Cyst in the posterior fossa (Dandy‐Walker) | Corpus callosum agenesis | Enlarged ventricles supratentorially | 1 | 1 | 20+4 | 2 | 6 | Dilated ventricles |
| 15 | Hydrocephalus | Severe brainstem malformation | Corpus callosum agenesis | Enlarged ventricles of the brain | 3 | 3 | 21+3 | 3 | 4 | Dilated ventricles |
| 16 | Syndrome with multiple malformations | Multiple malformations | Corpus callosum agenesis | Corpus callosum agenesis | 2 | 2 | 16+3 | 4 | 5 | Suspicion of Meckel‐Gruber syndrome |
| 17 | Cerebellar herniation | Cerebellar herniation | Corpus callosum agenesis | Cerebellar herniation | 1 | 1 | 18+6 | 1 | 2 | Myelomeningocele |
| 20 | Acrania | Acrania | Anencephaly | Acrania | 1 | 1 | 19+4 | 1 | 5 | Acrania |
| 21 | Occipital bone defect | Occipital meningocele | Occipital encephalocele | Occipital bone defect with encephalocele | 2 | 2 | 17+6 | 1 | 5 | Encephalocele |
| 22 | Hydrocephalus | Intraventricular bleeding | Choroid plexus hemorrhage | Enlarged supratentorial ventricles | 1 | 1 | 21+6 | 4 | 5 | Hydrocephalus |
| 23 | Cortical migration disturbance | Germinal matrix hemorrhage | Intraventricular hemorrhage | Enlarged lateral ventricles | 1 | 1 | 21+3 | 3 | 4 | CNS anomaly |
| 24 | Holoprosencephaly | Holoprosencephaly | Alobar holoprosencephaly | Alobar holoprosencephaly | 1 | 1 | 20+1 | 2 | 3 | Holoprosencephaly |
| 25 | Acrania | Acrania | Acrania | Acrania | 1 | 1 | 17+2 | 1 | 4 | Acrania |
| 31 | Hydrocephalus | Corpus callosum agenesis | Corpus callosum agenesis | Corpus callosum agenesis | 1 | 1 | 20+5 | 5 | 5 | Corpus callosum agenesis |
At the first autopsy the CNS was assessed as normal, but after pre‐ and postnatal MR imaging provided additional information, a neuroautopsy was performed which verified schizencephaly.
Microscopic diagnosis at autopsy.
1: All major anomalies detected by MRI. 2: Some major anomalies detected by MRI, including the most clinically significant. 3: Some major anomalies detected by MRI, but not the most clinically significant. 4: None of the major anomalies detected by MRI.
Non‐CNS cases. Diagnoses according to fetal autopsy and MRI reports by two senior radiologists including a comparison, gestational age at termination of pregnancy, and days between termination and postmortem MRI and autopsy
| Case number | Diagnosis according to fetal autopsy | Most clinically significant major anomaly | MRI diagnosis by radiologist 1 | MRI diagnosis by radiologist 2 | MRI diagnosis by radiologist 1 vs fetal autopsy | MRI diagnosis by radiologist 2 vs fetal autopsy | Gestational age at termination of pregnancy (d) | Days from termination of pregnancy to MRI (d) | Days from termination of pregnancy to autopsy (d) | Prenatal ultrasound diagnosis |
|---|---|---|---|---|---|---|---|---|---|---|
| 3 | Single umbilical artery | Double inlet left ventricle | Single cardiac ventricle | No pathological findings | 3 | 4 | 18+1 | 1 | 4 | Heart anomaly |
| 4 | Did not go through autopsy | Excluded | Bilateral renal agenesis | Not assessed | Excluded | Excluded | 19+0 | 0 | 0 | No information |
| 5 | Heart pathology: | Heart malformation: VSD | Corpus callosum agenesis | Omphalocele | 3 | 3 | 19+0 | 0 | 2 | Multiple anomalies |
| 8 | VACTERL syndrome: | Esophageal atresia | Bowel enlargement with high protein content | Bowel duplication | 2 | 2 | 20+1 | 2 | 3 | Renal and urinary bladder agenesis |
| 9 | Multicystic dysplastic kidney | Multicystic dysplastic kidney | Multicystic right kidney | Multicystic right kidney | 2 | 2 | 18+1 | 0 | 4 | Multicystic right kidney |
| 11 | Omphalocele | Omphalocele | Abdominal wall defect | Vertebral deformation | 1 | 3 | 17+2 | 0 | 6 | Omphalocele |
| 12 | Cysts in the tentorium | Bilateral diaphragmatic hernia | Corpus callosum agenesis | Vermis deformity | 1 | 1 | 18+5 | 1 | 3 | Multiple anomalies |
| 14 | Thanatophoric dysplasia | Skeletal dysplasia | Short long bones | Short long bones | 3 | 3 | 18+1 | 5 | 7 | Skeletal dysplasia |
| 18 | Discrepancy between size of head and extremities | Immature brain Skeletal dysplasia | Normal CNS | Normal CNS | 4 | 4 | 20+3 | 5 | 6 | Discrepancy between size of head and extremities |
| 19 | Arthrogryphosis | Arthrogryphosis | Skull deformity | Extracranial fluid | 4 | 4 | 17+5 | 7 | 7 | Arthrogryposis |
| 26 | Cytomegalovirus infection (prenatally diagnosed) | Multiple organ anomalies | Intraventricular hemorrhage | Intraventricular hemorrhage | 3 | 3 | 19+5 | 1 | 3 | Multiple anomalies |
| 27 | Trisomy 13 | Heart malformation | Alobar holoprosencephaly | Holoprosencephaly | 2 | 2 | 17+5 | 1 | 2 | Heart anomaly |
| 28 | Amniotic band syndrome | Bandlike marks of fetal hands and feet | Skull deformity, difficult to examine | Severely deformed | 3 | 3 | 19+6 | 6 | 11 | Bilateral club feet |
| 29 | Pentalogy of Cantrell: | Abdominal wall defect | Abdominal wall defect/hernia | Kidneys and urinary bladder normal | 1 | 4 | 16+5 | 1 | 4 | Pentalogy of Cantrell |
| 30 | Multiple malformations: | Cerebellar herniation | Deformed skull | Corpus callosum agenesis | 3 | 3 | 17+4 | 3 | 4 | CNS anomaly |
| 32 | Trisomy 18 (prenatally diagnosed) Intrauterine growth retardation | Multiple organ anomalies | Corpus callosum agenesis | Difficult to assess | 4 | 4 | 15+6 | 2 | 3 | IUGR |
| 33 | Arthrogryphosis | Arthrogryphosis | Hyperextension left knee | Club foot right side | 3 | 3 | 21+5 | 2 | 3 | Arthrogryposis |
| 34 | Thanatophoric dysplasia | Skeletal dysplasia | Corpus callosum agenesis | Suspected corpus callosum agenesis | 2 | 2 | 17+6 | 1 | 2 | Skeletal dysplasia |
| 35 | Thanatophoric dysplasia | Skeletal dysplasia | Corpus callosum agenesis | Intraventricular hemorrhage Subarachnoidal hemorrhage | 2 | 2 | 18+0 | 1 | 7 | Skeletal dysplasia |
1: All major anomalies detected by MRI. 2: Some major anomalies detected by MRI, including the most clinically significant. 3: Some major anomalies detected by MRI, but not the most clinically significant. 4: None of the major anomalies detected by MRI.
Figure 1Case 6. Transverse image of fetal brain with a mixed cystic and solid extra‐axial lesion in the right temporal region, which turned out to be a teratoma
Figure 2Case 22. Transverse image of brain showing intraventricular bleeding (black) originating from left germinal matrix (arrow)
Figure 3Case 27. Coronal image showing alobar holoprosencephaly with a large monoventricle surrounded by a thin parenchyma (arrow)
Figure 4Case 31. Fetus with enlarged ventricles and signs of agenesis of the corpus callosum (arrow), which was confirmed by autopsy
Figure 5Case 8. Coronal image showing fetus with Vacterl syndrome. MRI revealed absent kidneys (white arrows point to adrenal glands), vertebral deformities (arrow head) and lung lesions (black arrow) but did not show the associated esophageal and anal atresia