Fetal hemivertebra: associations and perinatal outcome

Basude, Snehalata; McDermott, L.; Newell, Sarah; Wreyford, Ben; Denbow, M.; Hutchinson, J.; Abdel-Fattah, Sherif A.

doi:10.1002/uog.13401

Cited by 39 publications

(53 citation statements)

References 17 publications

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“…However, there is currently no clear information in the literature about the diagnostic yield of chromosomal analysis performed prenatally for cases of VD and most published studies are also limited by their retrospective nature. In a large cohort of 45 fetuses with prenatally identified VD (Basude et al, ), karyotype analysis was performed only in 15 cases with one abnormal result of trisomy 18. In a recent postnatal cohort of individuals with VD and congenital scoliosis, karyotype and chromosomal microarray were, respectively, reported abnormal in 7% of patients (45 tested) and 31% of patients (32 tested; Beauregard‐Lacroix et al, ).…”

Section: Discussionmentioning

confidence: 99%

“…Sixty to 80% of fetuses with vertebral malformations diagnosed prenatally have associated anomalies (Basude et al, ; Zelop, Pretorius, & Benacerraf, ). VD are associated with multiple syndromic etiologies, such as Klippel‐Feil syndrome, Alagille syndrome, spondylocostal dysostosis (SCD), or VACTERL (vertebral malformations, anal atresia, cardiac malformation, tracheoesophageal fistula, renal and radial anomalies, and limb defects) association.…”

Section: Introductionmentioning

confidence: 99%

“…Rarely, chromosomal abnormalities have been reported in patients with vertebral anomalies (e.g., trisomy 18 [Basude et al, 2015], 16p11.2 deletion [Al-Kateb et al, 2014;Lin et al, 2018], and 7q36.1q36.3 deletion [Song et al, 2016]). TBX6 gene is included in the 16p11.2 microdeletion.…”

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confidence: 99%

“…Non-isolated VD is associated with high fetal morbidity and mortality (Basude et al, 2015;Wax et al, 2008). Few information is available about the long-term outcome of fetuses with isolated VD.…”

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confidence: 99%

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Retrospective analysis of fetal vertebral defects: Associated anomalies, etiologies, and outcome

Lemire

Beauregard‐Lacroix

Campeau

et al. 2019

American J of Med Genetics Pt A

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Our objectives were to describe fetal cases of vertebral defects (VD), assess the diagnostic yield of fetal chromosomal analysis for VD and determine which investigations should be performed when evaluating fetal VD. We performed a retrospective chart review for fetuses with VD seen between 2006 and 2015. Cases were identified from CHU Sainte‐Justine's prenatal clinic visits, postmortem fetal skeletal surveys, and medical records. Cases with neural tube defects were excluded. Sixty‐six fetuses with VD were identified at a mean gestational age of 20 weeks. Forty‐seven (71.2%) had associated antenatal anomalies, most commonly genitourinary, skeletal/limb, and cardiac anomalies. Thirteen mothers (19.7%) had pregestational diabetes (95% CI [10.1%–29.3%]). Fifty‐three cases had chromosomal analysis. Three had abnormal results (5.6%): trisomy 13, trisomy 22, and 9q33.1q34.11 deletion. Thirty‐four (51.5%) pregnancies were terminated, one led to intrauterine fetal demise and 31 (46.9%) continued to term. Of 27 children who survived the neonatal period, 21 had congenital scoliosis and 3 had spondylocostal dysostosis. Seven had developmental delay. In conclusion, prenatal evaluation of fetuses with VD should include detailed morphological assessment (including fetal echocardiogram), maternal diabetes screening, and chromosomal microarray if non‐isolated. Our findings provide guidance about management and counseling after a diagnosis of fetal VD.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

mentioning

confidence: 99%

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confidence: 99%

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Retrospective analysis of fetal vertebral defects: Associated anomalies, etiologies, and outcome

Lemire

Beauregard‐Lacroix

Campeau

et al. 2019

American J of Med Genetics Pt A

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show abstract

“…During routine screening for fetal abnormalities, an ultrasound assessment of the fetal spine during the second trimester is often sufficient for detecting vertebral malformations. Two‐thirds of the cases with hemivertebra malformations might be expected to be diagnosed via a prenatal ultrasound examination . Therefore, vertebral malformations will likely prove to be common indicators of the 16p11.2 recurrent microdeletion in fetuses.…”

Section: Discussionmentioning

confidence: 99%