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Other cardiovascular disorders
Published in Anne Lee, Sally Inch, David Finnigan, Therapeutics in Pregnancy and Lactation, 2019
Exposure to warfarin both before and after this period has been linked with other congenital abnormalities.4,10,11 Central nervous system defects, possibly the result of haemorrhage and scarring and subsequent impaired brain tissue growth, may develop following exposure to warfarin during any stage of pregnancy. These include malformations of the optic pathway, corpus callosum agenesis, Dandy–Walker malformation, areas of atrophy, encephalocoeles, microcephaly and hydrocephalus. Sequelae of this damage include mental retardation, blindness, spasticity and epilepsy. Fetal haemorrhage during the second and third trimesters may also cause damage in previously normally formed organs. In addition, the use of warfarin late in pregnancy may result in bleeding complications for both mother and baby at delivery.8 Fetal harm is not only linked with poor anticoagulant control, it can occur with good control.
Test Paper 7
Published in Teck Yew Chin, Susan Cheng Shelmerdine, Akash Ganguly, Chinedum Anosike, Get Through, 2017
Teck Yew Chin, Susan Cheng Shelmerdine, Akash Ganguly, Chinedum Anosike
On an antenatal ultrasound, a foetus is found to have an intracranial anomaly. At birth, the cranial ultrasound reveals a large cystic mass in the posterior fossa communicating with the fourth ventricle with hypoplasia of the cerebellar vermis.What other associated abnormality would you not expect to be associated with the underlying condition? Subependymal calcificationCorpus callosum agenesisGrey matter heterotopiaSchizencephalyOccipital encephalocele
Individual conditions grouped according to the international nosology and classification of genetic skeletal disorders*
Published in Christine M Hall, Amaka C Offiah, Francesca Forzano, Mario Lituania, Michelle Fink, Deborah Krakow, Fetal and Perinatal Skeletal Dysplasias, 2012
Christine M Hall, Amaka C Offiah, Francesca Forzano, Mario Lituania, Michelle Fink, Deborah Krakow
Radiographic features: The skull shows microcephaly with a sloping frontal bone and a prominent occiput (bathrocephaly). The orbits are relatively large and the skull base steep and sclerotic. The anterior fontanelle is small or closed. The limbs have short, mildly bowed and under-modelled long bones with wide metaphyses. The fingers are short, with fifth finger clinodactyly and a short first metacarpal. There are elongated clavicles, 11 pairs of ribs and some posterior constriction of the ribs. In the spine there are cleft cervical neural arches, coronal clefts and some thoracolumbar platyspondyly. In the pelvis the iliac wings are rounded with horizontal acetabular roofs and medial spurs on the ischia. There are contractures of the shoulders, elbows, hips and knees and there may be dislocations of the hips and radial heads. There is delayed epiphy-seal ossification with no knee epiphyses at birth and poor ossification of the sternum. Intracranial abnormalities have been described (lissencephaly, hypoplastic frontal lobes, agenesis of the corpus callosum, agenesis of cerebellar vermis) and CT or MRI may demonstrate these.
A Novel Nonsense FMN2 Mutation in Nonsyndromic Autosomal Recessive Intellectual Disability Syndrome
Published in Fetal and Pediatric Pathology, 2021
Orhan Gorukmez, Ozlem Gorukmez, Arzu Ekici
A 6.5-year-old male child of consanguineous parents was referred to the genetic department for investigation of delayed intellectual development. He was born via vaginal delivery at term following an uneventful pregnancy with normal birth measurements. He was the second child of the family and his elder brother was healthy. According to the proband’s mother, he started walking at 26 months and speech development was absent at the age of 6.5 years. There was no history of ID in his pedigree (Figure 1). The patient had strabismus, developmental delay, a minor problem in walking, and speech disorder on their physical examination, and he had no dysmorphic features except for a simian crease on the left hand. There was no seizure history. Cranial magnetic resonance imaging (MRI) was performed on the patient and corpus callosum agenesis was observed at 6 years of age. Routine karyotyping and CGG repeats of the FMR1 gene were normal.
A Dysmorphology Based Systematic Approach Toward Perinatal Genetic Diagnosis in a Fetal Autopsy Series
Published in Fetal and Pediatric Pathology, 2018
Shagun Aggarwal, Ashwani Tandon, Aneek Das Bhowmik, Jamal Mohamed Nurul Jain Safarulla, Ashwin Dalal
Targeted or Whole exome sequencing results were available in four cases (Case 14, 18, 27, 28, Table 1). Case 14 concluded to be a connective tissue disorder, showed double heterozygous putative pathogenic mutations in FBN1 and FBN2 on NGS, which cause Marfan syndrome and Beals syndrome, respectively; supporting autopsy diagnosis. Case 18 was concluded to be a syndromic corpus callosum agenesis with cortical microdysgenesis on basis of gross and histopathological findings, and the history of a previously affected sibling. NGS results showed presence of biallelic EPG5 mutations, indicating a diagnosis of Vici syndrome, which was concordant with clinical features of elder sib. Case 27 was a fetus with early onset unexplained anhydramnios with a similarly affected previous sibling. No definite diagnosis was possible on autopsy, but NGS revealed biallelic ACE mutations confirming autosomal recessive renal tubular dysgenesis as causative. Case 28 had autopsy findings suggestive of a multiple malformation syndrome. NGS results reported a heterozygous ZFPM2 mutation, which was inherited from the father. ZFPM2 variants are reported to be associated with congenital diaphragmatic hernia as seen in this fetus, but this mutation could not explain the additional finding of cystic kidney disease. No other pathogenic variant causative of renal abnormalities could be identified.
Assessment of foetal ventriculomegaly from prenatal to early postnatal period: a single-centre retrospective cohort study
Published in Journal of Obstetrics and Gynaecology, 2022
Nurullah Cihan Sohret, Ayse Neslihan Tekin, Ozge Surmeli Onay, Kamuran Suman, Ozge Aydemir, Melih Velipasaoglu
Postnatal ultrasonographic examination was performed in all the patients before they were discharged. However, despite the fact that all of the newborns were scheduled for a brain MRI following an ultrasonographic evaluation, some of them were lost to follow-up, and we were unable to obtain parental consent for anaesthesia during the MRI in some of them. So far, we have only been able to obtain MRI in 13 cases. Pathologic findings in cerebral MR were demonstrated in nine cases which five of them were in Group 1A and four were in Group 1B. All 4 cases with normal cranial MR were in Group-1A. The most common finding except VM was colpocephaly (Figure 2). While the patients’ prenatal ultrasonographic evaluations were congruent with their postnatal cerebral MR imaging results, MRI detected several abnormalities that ultrasonography did not. MRI outperformed ultrasonography in terms of evaluating brain atrophy and myelination delay. Postnatal ultrasonographic evaluation revealed that VM regressed in 21 mild isolated VM cases in Group 1A. In VM persisting cases, three of them described as nonisolated foetal VM and VP shunt operation required in one of them for hydrocephalus. In Group 1B, two cases regressed out of nine cases. Either isolated or not isolated did not have any effect on regression in this group. In the remaining seven cases, three cases required ventriculoperitoneal shunt placement for hydrocephalus and one case were operated for encephalocele. Surgery requirement for hydrocephalus was significantly higher in Group 1B (p < .001; Table 3). The case with corpus callosum agenesis and occipital cortical dysgenesis did not require any invasive procedure.