Journal of Clinical Neonatology

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

Trisomy 14 with diaphragmatic hernia

Anwar Krishna Jones, Azif Safarulla 
 Department of Pediatrics, Division of Neonatology, Medical College of Georgia, Augusta University, Augusta, Georgia

Correspondence Address:
Dr. Azif Safarulla
1120, 15th Street, BIW 6033, Augusta GA 30912


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.

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 2021 Dec 2 ];5:199-201
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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

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}

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}


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.


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