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Year : 2016  |  Volume : 5  |  Issue : 3  |  Page : 199-201

Trisomy 14 with diaphragmatic hernia

Department of Pediatrics, Division of Neonatology, Medical College of Georgia, Augusta University, Augusta, Georgia

Date of Web Publication28-Sep-2016

Correspondence Address:
Dr. Azif Safarulla
1120, 15th Street, BIW 6033, Augusta GA 30912
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/2249-4847.191266

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The patient was a 38 week female infant who was prenatally detected to have left sided diaphragmatic hernia which has not been previously described in literature. Diaphragmatic hernia is associated with chromosomal disorders. Multiple case reports have described Mosaic Trisomy 14 with distinctive characteristics. The patient shared few of the reported clinical features and had some novel phenotypic features. The patient was a term female infant who was prenatally detected to have left-sided diaphragmatic hernia at 34 weeks along with polyhydramnios, clover-shaped skull, and shortening of long bones. On delivery, the patient was noted to have multiple distinct features. The patient received maximal cardiorespiratory support but succumbed to the disease process after 6 days. Amniocentesis was performed on mother, and fluorescence in situ hybridization revealed duplication 14q24.2.2q32.33 and deletion 14q32.33. Karyotype on peripheral blood of the patient revealed partial Trisomy 14, by virtue of extra 14q32 region.

Keywords: Amniocentesis, diaphragmatic hernia, karyotype, Trisomy 14

How to cite this article:
Jones AK, Safarulla A. Trisomy 14 with diaphragmatic hernia. J Clin Neonatol 2016;5:199-201

How to cite this URL:
Jones AK, Safarulla A. Trisomy 14 with diaphragmatic hernia. J Clin Neonatol [serial online] 2016 [cited 2022 May 19];5:199-201. Available from: https://www.jcnonweb.com/text.asp?2016/5/3/199/191266

  Introduction Top

Complete Trisomy 14 is incompatible with life. Most case reports since the 1970s describe Mosaic Trisomy 14. Characteristic features include growth and psychomotor retardation, dysmorphic craniofacial features such as abnormal or low-set ears, micrognathia, cleft or highly arched palate, short neck, and congenital heart and genitourinary abnormalities. In this report, we describe a partial Trisomy 14 with a left-sided diaphragmatic hernia who was delivered at term and survived for 6 days. This has not been previously described in literature.

  Case Report Top

This term female infant was delivered at 38 completed weeks of gestation to a 26-year-old gravida 2 para 1 mother with an unremarkable serology who presented with rupture of membranes and contractions. The mother had good prenatal care. Diaphragmatic hernia was detected around 34 weeks of gestation by fetal ultrasound. In addition, the fetus was also noted to have a clover-shaped skull, shortened long bones, and polyhydramnios (amniotic fluid index = 38). Amniocentesis was performed, and fluorescence in situ hybridization (FISH) revealed duplication 14q24.2.2q32.33 and deletion 14q32.33.

Given the prenatal diagnosis of diaphragmatic hernia, the patient was intubated at delivery along with routine resuscitative measures. APGAR scores were 2, 7, and 9 at 1, 5, and 10 min, respectively. In the ICU, the infant was placed on a high-frequency oscillator for ventilation and received one dose of surfactant to aid in compliance. She was small for gestational age (<10th percentile for weight). Physical examination revealed corneal clouding, epicanthal folds, cloverleaf-shaped calvarium, anteverted nose, low-set ears, and depressed chest wall along with blanching of lower 2/3 of left calf. Radiographic examination confirmed left sided diaphragmatic hernia [Figure 1]. Neurological examination was grossly normal.
Figure 1: X-ray representing the left-sided diaphragmatic hernia with cardiac silhouette pushed to the right side. Also seen - umbilical catheters, endotracheal tube, orogastric tube

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The infant required maximal pressor support (dopamine, dobutamine, and hydrocortisone), on 100% FiO2 , high settings on the oscillator, and inhaled nitric oxide. Echocardiogram revealed structurally normal heart with elevated right-sided pressures.

Bilateral Grade 1-2 hydronephrosis was noted (right greater than left). Imaging of extremities revealed a nonocclusive thrombus in the left superficial femoral artery which spontaneously resolved. Head ultrasound was normal. Given poor long-term outcome for Trisomy 14 or partial Monosomy 14, the family agreed to continue current care but declined placing the infant on extracorporeal membrane oxygenation given the significant risks involved. By day 6, the patient noted to have worsening oxygenation and ventilation despite optimizing cardiopulmonary support. Given that the patient was not responding to current therapy, the family opted to hold the patient and agreed to withdraw technological support. They declined autopsy.

Cytogenetic and molecular studies

Amniocentesis was performed on the mother, and FISH revealed duplication 14q24.2.2q32.33 and deletion 14q32.33.

Karyotype on peripheral blood of the patient revealed partial Trisomy 14, by virtue of extra 14q32 region. Twenty metaphases were analyzed and all consistently revealed extra copy of 14q32 [Figure 2].
Figure 2: Karyotype of the patient with (red star) representing the extra copy of 14q32

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  Discussion Top

Complete Trisomy 14 is incompatible with life. Multiple case reports of Mosaic Trisomy 14 have been reported. Commonly reported features include growth and psychomotor retardation, microcephaly, broad nose, low-set ears, micrognathia, short neck, congenital heart disease (Tetralogy of Fallot, Atrial septal defect), body asymmetry, abnormal skin pigmentation, micropenis, and cryptorchidism.[1],[2],[3] It has a slight female predilection. There is short-life expectancy, most within few months to few years. There are only 2 case reports of patients who have survived to adulthood.[2],[4]

These features are nonspecific and should prompt a cytogenetic analysis. Our patient had a few of the above-mentioned features. Literature search revealed one patient with Mosaic Trisomy 14 with multiple congenital anomalies and diaphragmatic hernia.[5] Diaphragmatic hernia has been previously described in association with Trisomy 18, Trisomy 21, and Tetrasomy 12p.[6],[7],[8],[9],[10],[11],[12],[13] Trisomy 14 by extra 14q with diaphragmatic hernia has not been previously described in literature. This information is important from the perspective of counseling. In cases where chromosome analysis is done and Trisomy 14 is detected, it is important to look for diaphragmatic hernia as part of the detailed anomaly scan. This information would be a key in counseling parents as well as for the involved physicians in planning postnatal management.


We would like to thank Dr. Jatinder Bhatia for giving us the opportunity and mentorship.

Financial support and sponsorship


Conflicts of interest

There are no conflicts of interest.

  References Top

Johnson VP, Aceto T Jr., Likness C. Trisomy 14 mosaicism: Case report and review. Am J Med Genet 1979;3:331-9.  Back to cited text no. 1
Fujimoto A, Allanson J, Crowe CA, Lipson MH, Johnson VP. Natural history of mosaic trisomy 14 syndrome. Am J Med Genet 1992;44:189-96.  Back to cited text no. 2
Lynch MF, Fernandes CJ, Shaffer LG, Potocki L. Trisomy 14 mosaicism: A case report and review of the literature. J Perinatol 2004;24:121-3.  Back to cited text no. 3
Fagerberg CR, Eriksen FB, Thormann J, Østergaard JR. Trisomy 14 mosaicism: Clinical and cytogenetic findings in an adult. Clin Dysmorphol 2012;21:45-7.  Back to cited text no. 4
Shinawi M, Shao L, Jeng LJ, Shaw CA, Patel A, Bacino C, et al. Low-level mosaicism of trisomy 14: Phenotypic and molecular characterization. Am J Med Genet A 2008;146A: 1395-405.  Back to cited text no. 5
Faivre L, Morichon-Delvallez N, Viot G, Narcy F, Loison S, Mandelbrot L, et al. Prenatal diagnosis of an 8p23.1 deletion in a fetus with a diaphragmatic hernia and review of the literature. Prenat Diagn 1998;18:1055-60.  Back to cited text no. 6
Howe DT, Kilby MD, Sirry H, Barker GM, Roberts E, Davison EV, et al. Structural chromosome anomalies in congenital diaphragmatic hernia. Prenat Diagn 1996;16:1003-9.  Back to cited text no. 7
Tonks A, Wyldes M, Somerset DA, Dent K, Abhyankar A, Bagchi I, et al. Congenital malformations of the diaphragm: Findings of the West Midlands congenital anomaly register 1995 to 2000. Prenat Diagn 2004;24:596-604.  Back to cited text no. 8
Borys D, Taxy JB. Congenital diaphragmatic hernia and chromosomal anomalies: Autopsy study. Pediatr Dev Pathol 2004;7:35-8.  Back to cited text no. 9
Lurie IW. Where to look for the genes related to diaphragmatic hernia? Genet Couns 2003;14:75-93.  Back to cited text no. 10
Pecile V, Petroni MG, Fertz MC, Filippi G. Deficiency of distal 8p - Report of two cases and review of the literature. Clin Genet 1990;37:271-8.  Back to cited text no. 11
van Dooren MF, Brooks AS, Hoogeboom AJ, van den Hoonaard TL, de Klein JE, Wouters CH, et al. Early diagnosis of Wolf-Hirschhorn syndrome triggered by a life-threatening event: Congenital diaphragmatic hernia. Am J Med Genet A 2004;127A: 194-6.  Back to cited text no. 12
Holder AM, Klaassens M, Tibboel D, de Klein A, Lee B, Scott DA. Genetic factors in congenital diaphragmatic hernia. Am J Hum Genet 2007;80:825-45.  Back to cited text no. 13


  [Figure 1], [Figure 2]


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