Ultrasound prenatal diagnosis of a de novo 14q distal duplication associated with foetal anomalies: a case report
-
Anna Garofalo
,
Mariano Lanna
Abstract
Objectives
Partial trisomy 14q is a rare chromosomal abnormality with an extremely variable phenotype ranging from mild to severe forms of malformation. Most of the cases described in literature are postnatal clinical findings although few prenatal cases have been reported.
Case presentation
A 33-year-old woman at 21+6 weeks’ gestation was referred to our hospital for a detailed foetal ultrasound with suspected partial agenesis of corpus callosum and ureterocele. On examination, we found a short corpus callosum and ureterocele with a duplicated right renal collecting system. Moreover, there was an intrarotation of left foot with a prominent part departing from the ankle, both thighs appeared thicker, a thickening of the nuchal fold, a mild hypertelorism and a thick heterogeneous placenta. The patient underwent magnetic resonance imaging (MRI), which confirmed the foetal anomalies. The couple opted for a termination of pregnancy. Chromosome analysis and molecular karyotyping of amniocytes revealed a de novo rearrangement of chromosome 14 with an interstitial gain 14q31.1–14q32.22 and a terminal deletion 14q32.33.
Conclusions
The majority of partial trisomy 14q reporter are postnatal diagnoses. Improvement in the quality of foetal imaging and molecular techniques have made possible to identify many genetic syndromes prenatally. In our opinion, anomalies of the brain, urinary system and limbs may be the core findings of trisomy 14q. To our knowledge, no such case has ever been described previously.
Research funding: None declared.
Author contributions: All authors have accepted responsibility for the entire content of this manuscript and approved its submission.
Competing interests: Authors state no conflict of interest.
Informed consent: Informed consent was obtained from all individuals included in this study.
Ethical approval: Research involving human subjects complied with all relevant national regulations, institutional policies and is in accordance with the tenets of the Helsinki Declaration (as revised in 2013).
References
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Articles in the same Issue
- Case Reports – Obstetrics
- Fetal pulmonary choristoma: report of first case and literature review
- Ultrasound prenatal diagnosis of a de novo 14q distal duplication associated with foetal anomalies: a case report
- Prenatal diagnosis of Kleefstra syndrome
- Cardiac implant and the risk of infective endocarditis in pregnancy
- Iatrogenic fetal goiter. Conservative management and spontaneous resolution
- Management in cases of large uterine myomas in pregnancy
- Significantly enlarged varix in the free-loop of the umbilical cord during the second trimester
- A case report of co-infection with rhinovirus and SARS-CoV-2 in pregnancy
- Monoamniotic twins pregnancy complicated by a fetal congenital heart defect – a challenge for perinatal decisions
- Favorable outcome after nine minutes of shoulder dystocia preceded by a tight nuchal cord
- Circumvallate placenta and abnormal cord insertion as risk factors for intrauterine growth restriction and preterm birth: a case report
- A rare case of intra-uterine blood transfusion for fetal anemia caused by a giant placental chorioangioma
- Septated fetal bladder in a case of 2q13 deletion
- A case of prenatal diagnosis of single umbilical artery due to thrombosis diagnosed by the ultrasound finding of “wink-sign”
- Ultrasound diagnosis of myelomeningocele: the role of 3D ultrasonography in determining surficial status of the pathological lesion
- Pragmatic approach and variations in the management of pregnant women with type 1 diabetes mellitus on insulin pump: a case series
- A great pre-eclampsia masquerader. Hemophagocytic lymphohistiocytosis (HLH) presenting in pregnancy
- Survival of both twins in a pregnancy complicated by pre-viable cord prolapse at 21 weeks of gestation
- A case report of a pregnant woman diagnosed with intrahepatic cholangiocarcinoma (ICC) complicated by opioid tolerance
- Prenatal and postnatal imaging of an intrapericardial teratoma
- Case report of a ruptured uterine sacculation in the 19th week of pregnancy
- Is thromboelastography reliable in postpartum coagulopathies? Two case reports and a literature review
- Prenatal diagnosis of megacystis-microcolon-intestinal hypoperistalsis syndrome
- Fetal head entrapment within the lower uterine segment
- Case Reports – Fetus
- A case of diprosopus: a rare form of twinning radiology-pathology correlation
- Case Reports – Newborn
- Transmission of SARS-CoV-2 to premature twins from an asymptomatic mother
- Spinal dysraphism, club feet, and dextrocardia with situs inversus totalis in a neonate: a rare association and review
- Giant congenital vascular malformation: diagnostic approach and clinical course
- Transient neonatal myasthenia gravis following maternal myasthenia gravis presenting in pregnancy after treatment with Alemtuzumab
- Congenital pulmonary lymphangiectasia in an extremely low birth weight: a case report
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- Anhydramnios, but prenatally normal kidneys: renal tubular dysgenesis – patient with mutations in the renin-angiotensin system gene AGTR1
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