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Fetal Skeletal Lethal Dysplasia: The clinical management and decision-making in pregnancies in which there is suspicion of lethal fetal malformations during the prenatal period, such as lethal skeletal dysplasia SDdemand a multidisciplinary approach coordinated by an experienced physician. Based on the presentation of a case of osteogenesis imperfecta type IIA, we offer and discuss recommendations with the intention of organizing clinical and laboratory investigations aiming toward the clinical management, prognosis, and etiological diagnosis of these malformations, as well as genetic counselling to patients who wish to become pregnant.

Skeletal dysplasias SDsor osteochondrodysplasias OCDsare a group of bone exqueleticas with clinical and etiological heterogeneous characteristics. They affect the bone tissue and cartilage, resulting in changes in the growth, shape and development of the skeletal system.

The OCDs can be very rare; however, as a group, their prevalence is estimated at around 2. Due to the suspicion of a presumptive diagnosis of SD based on early gestational ultrasound findings, a range of clinical diagnosis with different outcomes may be considered. Based on the severity of the condition, such considerations and observations can impose difficulties to an appropriate clinical management of these fetuses, the pregnant women, and their families regarding genetic counselling.

In face of a medical emergency for the fetus with a presumed lethal SD, and the presence of a rather uniform gestational ultrasound phenotype among lethal SDs, clinical management guidelines become crucial. They may assist physicians to define proper etiological diagnosis and clinical prognosis, as well as genetic counselling, once few of these genetic disorders may present with considerable recurrence risks. This article aims, through the presentation of a clinical case of a lethal SD with radiological features OI type IIAto review the most common lethal SDs in the perinatal period, highlight their clinical and radiologic features, and compare the reported case with the literature.

Furthermore, recommendations for the clinical management of similar cases are discussed. A year-old pregnant woman in her 6th pregnancy, with 5 previous vaginal deliveries, was referred to our outpatient prenatal clinic due to a malformation in her fetus detected by an ultrasound in the Family Care Clinic.

Her family history was unremarkable.

A prenatal ultrasound fetal disppasias at 23 weeks of pregnancy revealed an estimated fetal weight of g and shortening of the long bones, so the hypothesis of an SD was considered. At 39 weeks of pregnancy, an ultrasound revealed an estimated fetal weight of g and fetal malformations characterized by hypotelorism, short esqueleticqs saddled nose, micrognathia with redundancy of soft tissue in the face and neck, very short ribs, and narrow thoracic cage Fig.

Furthermore, it was possible to observe skeletal abnormalities with shortening of the fetlaes more pronounced in esqueletidas femora and humeri. Fetal hypocalcification of the skull was displqsias, and complete and normal visualization of the encephalon, cerebral hemispheres, ventricles and the posterior fossa was apparently present.

A fetal echocardiography showed normal cardiac activity, with a thoracic diameter well below the third percentile, in addition to the presence of a mild to moderate tricuspid regurgitation.

The small thoracic diameter suggested a high probability of severe pulmonary hypoplasia. A history of Zika virus infection was suspected when the mother was 20 weeks and 4 days pregnant due to clinical manifestations described as arthralgia during 10 days, moderate fever, and erythematous exanthema spots on the body. Real-time polymerase chain reaction PCR for Zika virus could not be performed. At 39 weeks and 3 days of gestational age, the patient delivered a singleton male live newborn with facial malformation and very short limbs.


The Apgar score was 1 for the 1st minute of life, and 0 for the 5th minute.

The newborn died due to cardiorespiratory arrest 15 minutes after birth. A esqueleticqs examination of the baby was performed after we obtained the parents’ authorization, and it included skeletal X-ray scans. Genetic molecular tests were not performed Fig. The anatomopathological study revealed a deformed neonate esueleticas measuring 38 cm below the 3rd percentile and weighing 1, g below the 3rd percentilewith extreme shortening of all members.

The skull was very soft, with no cranium ossification, and visualization of the meninges was evident.

displasias esqueleticas fetales pdf

A narrow thoracic cage was present, and the shortening and deformities of the limbs were significant. The internal examination did not reveal any specific findings, except an important pulmonary hypoplasia Fig. The radiographic images of the skeleton showed extreme shortening and deformity of the long bones with severe loss of ossification, especially on the skull. The lethal forms of SD represent a group of genetic disorders that are clinically and genetically heterogeneous, and whose cardinal manifestations are observed in the perinatal period with severe and prominent phenotypic features.

In addition, due to the low incidence of lethal SDs, the presence of variable phenotypes, overlapping features and the lack of a positive family history, it is difficult to achieve a specific etiological diagnosis and, therefore, a clinical prognosis may be uncertain to access.

In the presence of an ultrasound finding indicative of a possible lethal SD, complementary tests can be of clinical relevance to document each case, such as three-dimensional 3D ultrasound, magnetic resonance imaging with 3D reconstruction, and invasive methods for collecting material for molecular investigation through DNA extraction from the amniotic fluid or cordocentesis.

However, the latter plays an extremely important role in the definition of phenotypic features in the post-natal period, especially ezqueleticas an SD is suspected. In addition to radiography, autopsy and collecting material for molecular investigation through fetal DNA analysis are ideal.

Even so, in the absence of confirmatory genetic tests, a range of differential diagnoses of lethal SDs must be considered based on the clinical and radiological findings Fig.

Among 5, births, 1, newborns The ultrasonographic diagnosis was suggestive in Out of 18 cases classified as Esqueleeticas, 10 were of thanatophoric dysplasia Currently, with the increasing advance in molecular diagnosis, diagnostic hypotheses can be displaias confirmed or excluded, thereby improving the accuracy of the genetic counselling. Hence, the importance of detailed clinical records of Dispoasias cases, including clinical and epidemiological data, radiographs, photographs, and storage of biological material paraffin block-embedded tissue for DNA extraction, for example is essential.

Gene sequencing or exome sequencing for a panel of genes related to SD are now available. Once an experienced clinician in lethal SDs confirms the diagnosis, genetic counselling can be properly offered to the families. In the study by Barbosa-Buck et al, 13 the association of advanced paternal age with de novo SD cases was shown, especially in the thanatophoric dysplasia group.

In the presence of advanced paternal age, there is a higher risk of occurrence of new mutations de novo per generation compared with advanced maternal age, especially in men, due to the large number of cell divisions during spermatogenesis.

If the diagnosis of an SD is certain, it is essential to assess whether it is classified as lethal, since we should instruct parents as to the severity of the condition. Based on subtle radiographic differences, Sillence et al 21 subdivided the OI type II disorder into three further groups.

Type IIA is characterized by short, broad crumpled femora and continuously beaded ribs; type IIB, by short, broad crumpled femora, but normal ribs or ribs with incomplete beading; and type IIC, by long, thin, inadequately modeled, rectangular long bones with multiple fractures, and thin, beaded ribs. The newborns with lethal SDs survive during a few days after birth, and rarely survive for more than one year; the treatment involves intensive support and ventilatory assistance.

The treatment should focus on the relief of the symptoms and on support. The importance of medical assistance aiming at the quality of life of the baby through a palliative treatment to relieve the pain by means of potent analgesics should be emphasized. As the majority of newborns die in the perinatal period, rapid and effective assistance is essential for the patients’ comfort, with minimal handling due to the esqueeleticas of fractures when it is the case, such as in this report of OI type IIA.


With the same importance, we must emphasize the relevance of medical documentation as much as radiological plates and photographs, especially in cases in which no etiological diagnosis has been established with certainty. The anatomopathological study is recommended in cases in which there is presence or suspicion of associated congenital malformations, such as polydactyly.

Displasias esqueleticas fetales pdf

Findings of internal malformations suggested by gestational ultrasound should be confirmed, and they contribute to the differential diagnosis of the lethal cases associated with congenital malformations, such as the short-rib polydactyly group 15 Table 1. The prognosis of a lethal SD, due to the severity of the condition, is quite limited. The physician must be used to talking to parents about the possibility of a lethal case, which itself requires great sensitivity and empathy. The use of simple and accessible esqueleticzs facilitates the decision-making in the management and treatment of such cases.

As there may be implications in the course of pregnancy and during the postnatal care, the parents should receive multidisciplinary support and adequate guidance regarding the continuation of pregnancy, the risks of recurrence for new pregnancies and the postnatal care, respecting the culture, religion and the laws of each community.

Clinical esqqueleticas and decision-making in cases in which a lethal disease is suspected in the prenatal period, such as a lethal SD, demands a multidisciplinary approach coordinated by an experienced physician.

Secondly, all efforts in collecting good quality documentation, including X-ray plates and photographic material, are essential. Thirdly, biological samples amniotic fluid, blood, paraffin block-embedded tissue for DNA extraction and posterior gene sequencing exome panel or Sanger gene sequencing should be stored; and, lastly, autopsy, including post-mortem X-ray plates, once the multiple congenital malformations suspected should be pursued.

The genetic counselling for a fetzles of lethal SD will be enormously enriched with the precise knowledge of the recurrence risks if each of these recommendations is fulfilled.

Skeletal dysplasia | Radiology Reference Article |

This case report and photographic documentation were approved for publication by the Ethical Committee Board of one of our institutions, under protocol numbers CAAE Camera G, Mastroiacovo P. Prog Clin Biol Res ; Am J Med Genet ;61 Prevalence of lethal osteochondrodysplasias in Denmark.

Am J Med Genet ;32 The birth prevalence rates for the skeletal dysplasias. J Med Genet ;23 Evaluation of prenatal-onset osteochondrodysplasias by ultrasonography: Antenatal diagnosis of lethal skeletal dysplasias.

Am J Med Genet ;75 Monitoring dominant germ cell mutations using skeletal dysplasias registered in malformation registries: Int J Epidemiol ;22 Basel D, Steiner RD. Genet Med ;11 Use of three-dimensional ultrasound imaging in the diagnosis of prenatal- onset skeletal dysplasias. Ultrasound Obstet Gynecol ; 21 Prenatal diagnosisof fetal skeletal dysplasias by combining two-dimensional and three-dimensional ultrasound and intrauterine three-dimensional helical computer tomography.

Ultrasound Obstet Gynecol ;24 Community Genet ; 7 Clinical epidemiology of skeletal dysplasias in South America. Professional Practice and Guidelines Committee. Statement on guidance for genetic counseling in advanced paternal age. Genet Med ;10 Smith’s recognizable patterns of humanmalformation. Nosology and classification of genetic skeletal disorders: Guidelines for the prenatal diagnosis of fetal skeletal dysplasias.

Recurrence ofachondrogenesis type 2in sibs: Additional evidencefor germline mosaicism. Mol Syndromol ;2 Osteogenesis imperfecta type II delineation of the phenotype with reference to genetic heterogeneity. Am J Med Genet ;17 Address for correspondence Juan Clinton Llerena Jr. Rui Barbosa, ,