Variable levels of mosaicism for trisomy 21 in a non-immune hydropic infant with chylothorax

Puddy, V.; Lam, Bcc; Tang, Mary Hoi Yin; Lam, Yung Hang; Wong, K.; Yeung, Ching‐Hei

doi:10.1002/(sici)1097-0223(199908)19:8<764::aid-pd618>3.0.co;2-1

Cited by 8 publications

(2 citation statements)

References 14 publications

(11 reference statements)

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“…Other rare cases have been occasionally reported, including trisomy 13, partial 12q trisomy and 4‐p syndrome . To our knowledge, in the online literature available, just two cases have been reported so far in association with mosaicism, one with a 46,XY/46,XX and another one with 46,XX/47,XX+21. This latter case was characterized by variable levels of mosaicism and, eventually, a final genetic diagnosis of Down syndrome during infancy was made.…”

Section: Discussionmentioning

confidence: 92%

Rare case of massive congenital bilateral chylothorax in a hydropic fetus with true mosaicism 47,XXX/46,XX

Cremonini

Poggi

Capucci

et al. 2013

J of Obstet and Gynaecol

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Fetal congenital chylothorax is a rare condition that occurs sporadically or can be associated with abnormal karyotype or structural chromosomal anomalies. We report a unique case of fetal congenital bilateral chylothorax associated with mosaicism 47,XXX/46,XX. A female fetus affected by massive bilateral hydrothorax and ascites was diagnosed at 34(+1) weeks of gestation. Previous ultrasonographic exams were completely normal. Immune causes of hydrops were excluded. Elective cesarean section was performed soon after bilateral thoracocentesis. The analysis of drained pleural fluid revealed its lymphatic nature. The fetal karyotyping, performed on chorionic villi at the 11th week, had shown mosaicism 47,XXX/46,XX, later confirmed in the newborn's blood. We hypothesized that chylothorax may be part of the phenotypic spectrum of 47 XXX karyotype and we suggest an ultrasound follow-up of the fetus at closer intervals than the routine timing for this condition, even if it is not usually characterized by severe phenotypic features.

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Section: Discussionmentioning

confidence: 92%

Rare case of massive congenital bilateral chylothorax in a hydropic fetus with true mosaicism 47,XXX/46,XX

Cremonini

Poggi

Capucci

et al. 2013

J of Obstet and Gynaecol

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“…Since then, based on a Medline search, a total of 11 cases of congenital pleural eusion associated with trisomy 21 have been reported in the English literature, 9 of which are in the form of congenital chylothorax [1,2,3,4,5,6,7]. In this report we present a further case of congenital pleural eusion associated with trisomy 21 which was also caused by chylothorax as in the majority of the other cases.…”

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confidence: 99%

Chylothorax and respiratory distress in a newborn with trisomy 21

et al. 2001

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Trisomy 21 may present with congenital chylothorax giving rise to symptoms of respiratory distress.Trisomy 21 or Down syndrome is the most common chromosome aberration in the newborn. Its high incidence has led to the better understanding of congenital diseases seen in association with this syndrome which commonly involve the cardiovascular and gastrointestinal systems. However, one of the less,if not the least, known associated condition is the pleural eusion, mostly congenital chylothorax, which is a disease characterised by lymphatic¯uid collection in the thoracic cavity of the newborn due to the leakage from the thoracic duct. We report on a newborn with trisomy 21 referred to our hospital with signs and symptoms of respiratory distress.The patient,a male newborn weighing 3,500 g at birth, was born to a 33-year-old woman gravida 3 para 3 at 39 weeks gestation by normal spontaneous vaginal delivery. He had respiratory ®ndings such as tachypnoea and cyanosis after birth and was therefore followed up for the ®rst 3 days of life after which he was discharged due to the disappearance of these symptoms. He was referred to our hospital on the 4th day of life with the same respiratory ®ndings. On admission, his body temperature was 36.7°C, pulse rate 134/min and respiratory rate 102/min. He was hypotonic and had atypical facies with low-set ears, epicanthic folds, high-arched palate and short ®ngers. Peroral cyanosis and poor breath sounds and rales were noted on the right side of the chest, together with pansystolic murmur in the mesocardiac area. The liver was 4 cm below the right costal margin.Initial laboratory ®ndings were as follows: Hb 23 g/dl, haematocrit 71%, WBC 12800/mm 3 , platelets 55000/ mm 3 , dierential blood count 52% neutrophils, 48% lymphocytes. CRP was negative. AP chest X-ray revealed a right sided pleural eusion. Thorax CT showed signi®cant pleural eusion in the right and minimal pleural eusion in the left side of the chest. ECHO showed a patent foramen ovale. Chromosome analysis revealed a 47 XY+21 karyotype. The cranial and abdominal ultrasound, TORCH screen, and thyroid hormones were all normal. Thoracentesis yielded a yellowish¯uid of pH 7.0 and density of 1010 with 6300/mm 3 leucocytes (100% lymphocytes), 90 mg/dl triglyceride, 35 mg/dl cholesterol and 2.4 g/dl protein. There were no bacteria on the gram stain and the culture was negative.Polycythaemia was treated with partial exchange transfusion. Thrombocytopenia resolved thereafter. He required two thoracenteses to relieve respiratory distress. After starting milk feeds, the yellow transparent thoracentesis¯uid became opaque and chyliform associated with increased triglycerides; therefore breast feeding was stopped and medium-chain triglyceride formula was commenced. After 6 days, the pleural eusion on the chest ®lms resolved gradually and disappeared. Breast feeding was reinitiated and the patient was discharged 14 days after the admission. He is still on breast milk and in a healthy state.The pathogenesis of congenital chylothorax is s...

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Successful treatment of primary fetal hydrothorax with hydrops by pleuroamniotic shunt placement

Hamada

Yasuoka

Urushigawa

et al. 2001

Archives of Gynecology and Obstetrics

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Variable levels of mosaicism for trisomy 21 in a non-immune hydropic infant with chylothorax

Cited by 8 publications

References 14 publications

Rare case of massive congenital bilateral chylothorax in a hydropic fetus with true mosaicism 47,XXX/46,XX

Rare case of massive congenital bilateral chylothorax in a hydropic fetus with true mosaicism 47,XXX/46,XX

Chylothorax and respiratory distress in a newborn with trisomy 21

Successful treatment of primary fetal hydrothorax with hydrops by pleuroamniotic shunt placement

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