Prenatal diagnosis of megacystis microcolon intestinal hypoperistalsis syndrome by biochemical analysis of fetal urine

Prenatal Diagnosis
Jonathan RosenblattFrancoise Muller

Abstract

The objective of the study is to determine a model of fetal urine biochemical markers to differentiate megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) from other megacystis. This is a retrospective study of biochemical analysis of fetal urine in patients who presented prenatally with megacystis. We studied β2-microglobulin, sodium, calcium, and phosphorus. Twenty-six patients subsequently diagnosed with MMIHS were compared with 2 control groups: one of end-stage renal failure (64 fetuses) and the second of "good" postnatal renal function (control group, 64 fetuses). Mean fetal urine β2-microglobulin was significantly higher (P < .001) in end-stage renal failure (15.7 mg/L) than in MMIHS (2.2 mg/L) and the control group (3.2 mg/L). Fetal urine profiles differed significantly (P < .001) between MMIHS and the control group: median sodium 46.5 and 51 mmol/L, median calcium 1.12 and 0.73 mmol/L, and median phosphorus 0.03 and 0.15 mmol/L respectively. Fetal urinary ionic index [ratio: calcium / (phosphorus × sodium)] gave an area under the ROC curve of 0.86, at 54% sensitivity and 97% specificity, with correct classification in 84% of cases. We defined a nomogram to obtain a probability for MMIHS. Fetal urinalysis ...Continue Reading

References

Oct 1, 1979·AJR. American Journal of Roentgenology·W C VezinaF Winsberg
Jan 17, 2002·Pediatric Surgery International·Udo RollePrem Puri
Mar 17, 2005·Seminars in Pediatric Surgery·Prem Puri, Masato Shinkai
Mar 26, 2005·Prenatal Diagnosis·Françoise MullerUNKNOWN Study Group of the French Fetal Medicine Society
Aug 5, 2006·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·C GarelF Muller
Oct 3, 2007·American Journal of Perinatology·Everett F MagannJohn C Morrison
Jan 23, 2009·Journal of the American Society of Nephrology : JASN·George J SchwartzSusan L Furth
Jul 31, 2009·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·L S BernardesA Benachi
Jul 28, 2011·Pediatric Surgery International·Jan-Hendrik Gosemann, Prem Puri
May 9, 2012·Prenatal Diagnosis·Edouard LecarpentierFrançoise Muller
Aug 21, 2013·Pediatric Surgery International·Danielle Mc Laughlin, Prem Puri
Nov 20, 2014·European Journal of Human Genetics : EJHG·Julie GauthierJean-François Soucy
Mar 16, 2017·Proceedings of the National Academy of Sciences of the United States of America·Danny HalimJoseph M Miano
Jun 13, 2017·American Journal of Human Genetics·Danny HalimMaria M Alves

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