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Congenital skeletal abnormalities
Published in Asim Kurjak, CRC Handbook of Ultrasound in Obstetrics and Gynecology, 2019
Thanatophoric dysplasia, which is the most common form of fatal neonatal dwarfism, also exhibits characteristic ultrasonic findings. Besides hydramnios, which is a constant associated symptom, there is marked thickening of soft tissue, and the thorax is abnormally small when compared to the large and protuberant abdomen and large head. The extremities are short and the proximal part is more severely affected (rhizomelic dwarfism) (Figures 8 to 11). Thoracic dysplasia is also noted in congenital hypophosphatasia, short rib polydactyly syndrome, osteogenesis imperfecta, or achondrogenesis and regularly suggests early neonatal death (Figures 12 and 13).
Foetal thoracic hypoplasia: concomitant anomalies and neonatal outcomes
Published in Journal of Obstetrics and Gynaecology, 2022
Munip Akalin, Oya Demirci, Guher Bolat, Ozge Kahramanoglu, Mucize Eric Ozdemir, Ali Karaman
Foetal thoracic hypoplasia refers to severe narrowing of the rib cage in intrauterine life. It can develop primarily as a result of the developmental defect of the thoracic skeleton (sternum and ribs) or thoracic muscles (diaphragm and intercostal muscles) (Paladini and Volpe 2014). Although it is mostly accompanied by skeletal dysplasia, it may rarely develop as a result of foetal neuromuscular diseases and bilateral pulmonary hypoplasia. The most common types of skeletal dysplasias that cause thoracic hypoplasia are thanatophoric dysplasia type 1, achondrogenesis type 2, hypophosphatasia, asphyxiating thoracic dysplasia and short rib-polydactyly syndrome (Yang et al. 1987; Gregersen and Savarirayan 1993; Karczeski and Cutting 1993; Mornet and Nunes 1993). Also, neuromuscular diseases such as foetal akinesia deformation sequence (FADS) can cause this condition (Hellmund et al. 2016). Thoracic hypoplasia is usually diagnosed in the first trimester or early second trimester (Syngelaki et al. 2019). It can be suspected while evaluating the heart in four-chamber view and the thorax in the midsagittal plane (Figure 1). In the presence of such suspicion, the nomograms of the thoracic circumference are used in the diagnosis of thoracic hypoplasia (Chitkara et al. 1987). Thoracic hypoplasia progresses lethally when diagnosed in foetal life, as it results in pulmonary hypoplasia regardless of the underlying cause (Krakow et al. 2009). However, it is important to identify other system anomalies that accompany thoracic hypoplasia to determine possible syndromes. Identification of these syndromes help us to predict both foetal and neonatal prognosis and to determine the risk of recurrence in subsequent pregnancies. Although skeletal dysplasias with thoracic hypoplasia are well defined in the literature, data on concomitant foetal anomalies in these cases are quite limited. In addition, data such as the perinatal outcomes of foetuses with thoracic hypoplasia, the survival time of newborns and the length of stay in the neonatal intensive care unit (NICU) are quite limited. In our study, we investigated other system anomalies accompanying thoracic hypoplasia diagnosed in the prenatal period and perinatal results of foetuses with thoracic hypoplasia. We aim to contribute to the literature on the frequency of concomitant anomalies in thoracic hypoplasia and the outcomes of these pregnancies.