The Journal of Maternal-Fetal & Neonatal Medicine

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Ultrasonographic evidence of persistent hyperextension of the fetal neck: is it a true sign? A diagnostic and prognostic challenge Marcella Pellegrino , Andrea Lombisani , Antonio Lanzone & Daniela Visconti To cite this article: Marcella Pellegrino , Andrea Lombisani , Antonio Lanzone & Daniela Visconti (2020): Ultrasonographic evidence of persistent hyperextension of the fetal neck: is it a true sign? A diagnostic and prognostic challenge, The Journal of Maternal-Fetal & Neonatal Medicine, DOI: 10.1080/14767058.2020.1818223 To link to this article: https://doi.org/10.1080/14767058.2020.1818223

Published online: 30 Sep 2020.

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THE JOURNAL OF MATERNAL-FETAL & NEONATAL MEDICINE https://doi.org/10.1080/14767058.2020.1818223

ORIGINAL ARTICLE

Ultrasonographic evidence of persistent hyperextension of the fetal neck: is it a true sign? A diagnostic and prognostic challenge Marcella Pellegrinoa, Andrea Lombisanib, Antonio Lanzonea,b and Daniela Viscontia a Dipartimento Scienze Salute della Donna, del Bambino e di Sanita Pubblica – UOC Ostetricia e Patologia Ostetrica, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy; bCentro Studi per la Tutela della Salute della Madre e del Concepito, Istituto di Clinica Ostetrica e Ginecologica, Universita Cattolica del Sacro Cuore, Rome, Italy

ABSTRACT

ARTICLE HISTORY

Objective: The purpose of this study was to evaluate the clinical evolution, structural anomalies associated and neonatal outcomes of fetal neck hyperextension in two cases with prenatal ultrasound diagnosis in two different gestational ages. Methods: In 2019, two cases of fetal hyperextension came to our attention. Follow-up information was obtained from hospital medical records and obstetrical care providers. Results: Two woman were investigated in our institution for the presence of fetal abnormalities in the II and III trimester, respectively. In both cases, fetal attitude presented persistent fetal neck hyperextension. One of the two fetuses had a mild ventriculomegaly and suspected for micrognathia. Both had an amniotic fluid increase. One of two had no movement in the lower and upper limbs in ultrasound scans associated with club foot and suspected scoliosis. Both were born by cesarean section with pretty different prognosis: one healthy baby had a retarded psychomotor development and the other one died after 6 months. A precise diagnosis was possible only in one case. Conclusion: The early identification of a fetus with persistent hyperextension of the fetal head should require a detailed ultrasound exam for structural abnormalities and a careful prenatal counseling due to possible postnatal outcome.

Received 17 May 2020 Revised 6 August 2020 Accepted 30 August 2020

Introduction Hyperextension of fetal neck is a persistent condition for the duration of the scan where an excessive extension of the fetal neck is observed. This condition can be diagnosed during fetal life by a normal ultrasonography and, commonly, this is a transient finding and associated with a good prognosis but, if persistent, could cause the fetus to be in a facial position at the moment of delivery or other several rare problems [1]. In literature, the hyperextension of the fetal neck is normally discussed as a dangerous finding in breech presentation of the fetus, giving attention mostly during labor. It is well recorded that this finding can be associated with other abnormalities or atypical attitude of the fetus, caused by different diseases. It can be an isolated form or associated to other structural and/or genetic anomalies [2–4]. Particularly, big masses on the fetal neck or injury of the cervical marrow or iniencephaly or uterine malformations/presence of leiomyomas, multiple

KEYWORDS

Neck hyperextension; prenatal diagnosis; ultrasound; genetics; neuromuscular disease

gestation, placenta previa, or anomalies in the quantity of amniotic fluid could cause an abnormal fetal presentation [3,5–8].Limitation of movement or atypical attitude can result as the phenotype of several structural or presentation anomalies or even in rarer diseases concerning fetal movements that characterize the fetal akinesia deformation sequence (FADS) [9,10]. In this study, we are investigating the importance of fetal attitude, particularly referring to the rare case of persistent hyperextension of the fetal neck that can be associated with other anomalies. In this heterogeneous context, we are reporting two rare cases of hyperextension of the fetal neck. The prognosis of the two fetuses was clearly different.

Materials and methods In 2019, we followed two cases in Obstetric Day Hospital of Fondazione Policlinico Agostino Gemelli in

CONTACT Marcella Pellegrino [email protected] Dipartimento Scienze Salute della Donna, del Bambino e di Sanita Pubblica – UOC Ostetricia e Patologia Ostetrica, Fondazione Policlinico Universitario A. Gemelli IRCCS, Largo A. Gemelli, 8, Rome 00168, Italy ß 2020 Informa UK Limited, trading as Taylor & Francis Group

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Figure 1. (a, b) Ultrasound at 22 and 29 weeks: persistent neck hyperextension next to one myoma. (c, d) Fetal MRI at 32 weeks: bilateral cerebral ventriculomegaly (14 and 11 mm) and a lot of uterine myomas.

Rome. Both fetuses had an abnormal presentation with fetal neck hyperextension respectively at 22 and 32 weeks. Ultrasonography was carried out by a Voluson E8 device. Before carrying out the examinations, informed consent to perform the ultrasound exam was acquired. Moreover, we carried out a fetal RMN, genetic and pediatric counseling.

Results The first case was a 37-year-old patient in her first pregnancy. She was nonsmoker, she did not drink alcohol, and she had no previous general pathology or genetic disorder. She suffered from multiple uterine fibromas. No family history of neuromuscular disease was reported in both parents.

She was reported to us because of anomalies observed during screening test in the second trimester: “the chin profile seems to be fleeing as if there was an ipoplasia of the mandible and/or retrognathia.” The woman had normal first trimester prenatal screening (dual test) and prenatal fetal-DNA test in maternal blood. No amniocentesis was carried out because of the presence of several uterine leiomyomas. During a second level ultrasonography carried out 22 weeks of gestation, the presence of a female fetus with borderline monolateral cerebral ventriculomegaly (10.9 mm) was reported, suspected of micrognathia and the presence of persistent hyperextension of the fetal neck (Figure 1(a,b)). Biometry of the fetus and the amniotic fluid were normal. Other ultrasound scans were taken at 29, 30, and 33 weeks of gestation, confirming the presence of neck hyperextension with the head that touches the fetal sacrum; monolateral cerebral borderline

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Figure 2. (a, b) Ultrasound at 33 weeks: hyperextension of the fetal neck, prefrontal edema, no movements of the upper limbs. (c, d) Fetal MRI: hyperlordotic cervical and dorso-lumbar spine, right-convex rotoscoliosis of the dorso-lumbar spine.

ventriculomegaly and an increase of amniotic fluid index were also found. At 31 weeks and 6 d of gestation, fetal MRI was carried out: bilateral cerebral ventriculomegaly (14 and 11 mm) and hyperextension of the fetal neck were confirmed. No other anomalies were observed (Figure 1(c,d)). An elective cesarean section was performed at 36 weeks of gestation for breech presentation and hyperextension of fetal neck. Upon examination, the child weighed 2720 g, the Apgar scores were 7 at 1 min, 9 at 3 min. She presented hypotonia of the four limbs with plagiocephaly, asymmetry of the virus and no breathing problems. She was admitted to the neonatal pathology care unit where radiography of the column and ultrasound scan of the child neck were taken and showed no anomalies. Encephalic MRI was also obtained and only modest lateral ventricular ventriculomegaly was observed, with expansion of the liquor spaces in the temporal left zone. Genetics on CHG-Array were negative. EEG was normal.

She is now under evaluation by child neuropsychiatrist and is performing physiotherapy. Last evaluation was taken at 8 months old, showing a retarded psychomotor development of 3 months (Brunet–Lezine scale), with axial hypotonia and no persisting attitude of hyperextension and left lateral deviation of the head. Facial dysmorphia is also present. No specific diagnosis has been done so far. The second case is a 35-year-old patient in her second pregnancy. First pregnancy with no previous anamnestic problems. The patient’s father-in-law was affected by amyotrophic lateral sclerosis. The patient is reported to us after carrying out an ultrasonography during the 32nd week in another hospital. During our first evaluation, the fetus showed hyperextension of the fetal neck with the head touching the gluteus, prefrontal edema, abnormal twist of the left foot and no movements of the upper limbs (Figure 2(a,b)). Biometries, amniotic fluid, and velocimetry were normal. First trimester prenatal screening (dual test) and prenatal fetal-DNA test in maternal blood were

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normal. Morphology ultrasound scan at 22 weeks of gestation showed a normal male fetus. Another ultrasound scan taken at 35 weeks of gestation confirmed the abnormal fetal position and showing also an incremented amniotic fluid index (232 mm); no movements of the upper and lower limbs. Fetal MRI was performed showing hyperlordotic attitude of the cervical spine and of the dorso-lumbar passage, associated with right-convex rotoscoliosis of the dorso-lumbar spine (Cobb angle about 45 ). No other anomalies were detected (Figure 2(c,d)). The baby was born by elective cesarean section at 37 weeks of gestation, at birth the weight was 3400 g and the Apgar scores were 1 at 1 min and 5 at 3 min. The baby was admitted on intensive care unit, spontaneous mobility and breathing were absent with general hypotonia. Two postnatal MRI were performed showing intracranial and intracranial hemorrhage, especially in the cervical segment, little spots of periventricular leukomalacia. Array-CHG was taken after genetic counseling and was negative. Muscular biopsy showed nemaline myopathy (NM), resulting in a severe prognosis in the short mid-term. When he was 4 months old, the newborn underwent a new RMN which confirmed the irreversibility of his situation which could be treated in an intensiveinvasive way or by a “comfort care” clinical treatment avoiding intensive-invasive operations. The child died after 5 months after bioethical counseling that confirmed the possibility of not resorting to invasive care (such as gastrostomy or tracheostomy) and the non-reversibility of the underlying pathology, in accordance with the will of parents and pediatricians.

Discussion Fetal head hyperextension can be a fetal attitudes detected by prenatal ultrasound often associated with good prognosis. Historically, this issue was found in breech presentation especially during labor, hence, a cesarean section is typically proposed because of increased risk of injury to the cervical spinal cord during delivery [11,12]. Although this condition is commonly transient, if this fetal attitude is persistent during all duration of the scan before the time of labor, it has to be investigated because in 40% of the fetuses there are abnormalities [12]. Different disease can lead to such a high grade of neck hyperextension: 1.

Neck masses: Hemangioma and lymphangioma are the most common histotype (42.1%), followed by

2. 3.

all types of teratomas (29.7%). Ultrasound and MRI can be integrated to evaluate fetal airways patency before the delivery especially in case of giant cervical tumors [13,14]. Iniencephaly [7]: A rare and often lethal disease of neural tube diagnosed in the first trimester. Neuromuscular and genetic-related disease, including:

 Fetal akinesia deformation sequence;  Arthrogryposis multiplex congenita (AMC);  Congenital myopathies. It is mandatory to assess a good ultrasound check for other sites of contractures or atypical fetal posture. Genetic counseling should be offered about prognosis, etiology of the disease, recurrence in future pregnancies: more than 400 distinct disorders, of which more than 50% have a genetic diagnosis [10,15]. FADS is characterized by a limitation of movements, starting already from 8 weeks of gestation, at least two joints contractures (distal arthrogryposis), pulmonary hypoplasia, facial abnormalities, and polyhydramnios. The etiology varies and exposure to teratogens as well as genetic and neurological origins are also contemplated. The association with central nervous system anomalies is frequent, as in our case [15–19]. AMC can be divided into extrinsic (extrafetal) and intrinsic (fetal) causes: extrinsic etiologies such as uterine fibromas, congenital uterine abnormalities, multifetal pregnancy, maternal myasthenia gravis, or maternal exposures to infections or drugs during pregnancy. These etiologies are generally associated with good outcomes. The majority of cases of arthrogryposis are identified prenatally in the second or third trimester, like our cases. Common ultrasound findings include decreased fetal movements, clenched hands, abnormal extension or flexion and polyhydramnios. Additional findings include intrauterine growth restriction (IUGR), fetal edema or hydrops, brain malformations, cleft lip and/or palate, retrognathia/micrognathia, absence of fetal stomach bubble, large cardiac size/small thorax, diaphragmatic hernia, gastroschisis, hypoechogenicity of fetal long bones, fractures, scoliosis, and pterygia [10]. Congenital myopathies constitute a heterogeneous group of rare muscle diseases characterized by muscle weakness and atrophy, motor delay, and respiratory insufficiency [20]. Sonographic features are heterogeneous and nonspecific, no visible abnormalities are noted in the prenatal period, hence prenatal diagnosis is rare [21–23]. Although first-trimester

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diagnoses of myopathies and muscular dystrophies have been reported [24,25], sonographic abnormalities frequently develop in the third trimester of pregnancy [9,26]. In our case report, a diagnosis of a rare myopathy was done. Nemaline myopathy is autosomal recessive pathology with an incidence of 0.2 per 100,000 live births. NM is classified into six groups according to symptom severity, including hypotonia, muscle weakness, respiratory insufficiency, and feeding problems [27–29]. Prenatal sonographic features include polyhydramnios, fetal akinesia/hypokinesia, contractures, fractures, fetal growth restriction, fetal hydrops, and club foot [30–34]. Muscle biopsy was offered also in utero to diagnose NM, especially if there are previous cases [35]. Ultrasound appearance of neck hyperextension is similar but the etiology and prognosis are completely different. We realized that the follow-up is critical to see how and if the situation changes. Two key things to note: gestational age of onset hyperextension of the neck and the mother perception of fetal movements. In the first case, the first visualization was in the second trimester and fetal movements were always perceived, even if they were poorly visualized; in the second case, however, ultrasound diagnosis took place in the third trimester and the movements initially perceived became almost completely absent. Everything was then confirmed at birth. Multiple uterine myomas can make the diagnosis difficult due to limited ultrasound evaluation. The hostile uterine environment can be a cause of arthrogryposis: first of all oligohydramnios, but also giant leiomyoma [8]. Few studies have shown this. In 60% of cases, in fact, the etiology remains unknown [12]. Another aspect to consider is the correlation with spinal cord injuries by forced and lasting position in the uterus and/or trauma to childbirth. Cesarean section, often preferred as a mode of delivery, does not completely prevent neurological lesions, often already present before birth [12]. MRI should provide this information in particular regardless of the cause hyperextension. Fetal MRI could be useful to assess for brain or other structural abnormalities and to decide how to manage the pregnancy about intrauterine therapy, mode of delivery, and postnatal care. Shrot et al. investigated four cases of fetal head hyperextension and MRI. One patient showed resolution before labor. Structural neck abnormality with airway compromise was noted only in one patient. No airway compromise, cervical spine or spinal cord anomaly was identified in the remaining three patients [36].

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In our first case, MRI was normal except for ventriculomegaly; instead, in second case, MRI described fetal spinal cord injury like hemorrhage, that was confirmed after birth and diagnosis of NM was made. Ultrasound is better than MRI to define the presence or not of fetal movements, to study bone system and to evaluate fetal well-being [23,27].

Conclusions Hyperextension of the fetal neck is a common transient finding but, if persistent, can suggest a more or less serious pathology. It is necessary to carry out a careful morphological-structural study in order to identify the associated anomalies. The evaluation of the quantity of the amniotic fluid can also be an important sign. In both of our studies, its level was increased and the movement of inferior limbs was present in one case and absent in the other one. The ultrasonography can reveal a totally different prognosis, though literature reports cases of hyperextension of fetal neck which are resolved after delivery [12] but the risk of morbidity and mortality must be considered. In this heterogeneous context, persistent hyperextension of the fetal head is a rare finding which, as seen in the two cases reported, must suggest the clinician suspicion of an underlying neuromuscular pathology, excluding other more common determinants of head extension on the fetal trunk. As the ultrasound scans are the first step for the diagnosis, fetal MRI could be a good confirmation of the diagnosis. It is therefore recommended to carry out an adequate counseling for the couple, analyzing all the possible causes of the discovery of this rare finding. Based on our experience, a multidisciplinary approach is necessary to have an accurate prenatal counseling considering the ultrasonography, the RMN study and genetic study, pediatric counseling and bioethical advice in the most severe cases.

Ethical approval The article was conducted according to privacy protection and medical ethics. All parents have given consent to the inclusion of personal and anonymized material.

Acknowledgments The authors thank those parents who bravely face problems next to their children from intrauterine life.

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Disclosure statement

[14]

The authors report no conflict of interest.

Data availability statement We share our data with appropriate protection of sensitive data. Medical history and laboratory examinations of the two pregnancies are stored in our internal computer system.

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