Three consecutive neonatal death in a family

suspected with Potters Sequence

Muhammad Shofwan1, Farmaditya EP Mundhofir1, Sutyoso Suyono2, Maria Ulfah1,
Sultana MH Faradz1,*
1) Center for Biomedical Research, Faculty of Medicine Diponegoro University, 2nd
floor, Central Laboratory Building, Diponegoro National Hospital, Jl. Prof.
Soedharto No. 1 Tembalang, Semarang, Indonesia
2)

Presented at the: ASEA-UNINET International Workshop Bali, 15th-18th, February 2016,

Udayana University, Widya Sabha, Campus Bukit Jimbaran .

Key Area: Heatlh , Pharmacy,and Medicine

ABSTRACT

research objectives. Different etiologies with low penetrance of autosomal dominant

mode of inheritance can lead to Potters sequence (Hjort C, 1992). It is characterized by
renal abnormality (including megalo-renal), oligohydramnion and lung hypoplasia
(Himabindu A, 2011; Khatami F, 2004). Here, we report three consecutive early neonatal
deaths in a family. To the best of our knowledge, this is the first report of suspected of
Potters sequence in Indonesia.

methodologies. The non consanguineous couple referred by an obstetrician with

recurrent early neonatal death. All of their three children died in less than 24 hours of
life. History taking including pedigree construction, pre-ante-post natal histories,
medical record of these three children and parents were collected. Conventional
karyotyping of the father, mother, and the third child were performed. Genomic DNA of
these individuals was extracted from peripheral blood using the salting out method and
was reserved for further investigations. Possum and Oxford Medical Database (OMD)
software were used to find differential diagnosis of possible syndromes.
1

preliminary findings. Family history revealed no history of pregnancy loss. Three

children showed posteriorly rotated ear, cupid bow lip, and wide forehead. The second
and third child shared similar abnormalities such as lung hypoplasia, megalo-kidney, and
oligohydramnion, whereas the first child also has multiple congenital anomalies without
further information. Three of them were suffered from respiratory failure as cause of
death. Chromosome analysis of father, mother and third child showed no chromosomal
rearrangements. To identify whether there is inherited kidney abnormality, we examined
Parents abdominal ultrasonography ans showed fatty liver grade I (father) and left
nephrolithiasis (mother).
Normal result of conventional karyotyping does not exclude smaller (<4Mbp) gene
abnormality (North East Thames Regional Genetics Service,2011).. Therefore further
investigation such as DNA Microarray and exome sequencing are warranted. The result
of Possum and OMD were not conclusive due to wide spectrum of Potters sequence and
minimal investigation

potential contributions to the literature. As the diagnosis established, we expect to

find the gene abnormality that cause Potters sequence in Indonesia and is it different
mutation referred to the gene mutations that has been published. Thus, mode of
inheritance could be determined in order to do genetic counseling for next pregnancy for
this family and best laboratory workup for other family which have the same condition.

Keywords: Potters sequence, oligohydramnion, megalo-renal, consecutive

REFERENCES

Himabindu, A., Rao, B. N., 2011. A fatal Case of Potter's Syndrome-A Case Report.
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http://www.researchgate.net/publication/276417271 [Accessed 13 December 2015].
Hjort, C., Lauren, C. O., Nathan, E., 1992. Potter's sequence. Phenotype, pathogenesis,
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%27s_sequence_Phenotype_pathogenesis_etiology_and_hereditary_aspects [Accessed
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Khatami, F., 2004. Potter's Syndrome: A Study of 15 Patients. Archive of Iranian
Medicine, 7 (3), 186-9.

REGIONAL CYTOGENETICS LABORATORY

North East Thames Regional Genetics Service. 2011. Limitation of Cytogenetic Testing.
Available at http://www.labs.gosh.nhs.uk/media/384333/Limitations%20of
%20cytogenetic%20testing.pdf [Accessed 14 Desember 2015]