Prenatal diagnosis of renal anomalies

American Journal of Medical Genetics
S KaffeK Hirschhorn

Abstract

Within the past 24 months, we have performed prenatal diagnostic studies in 4 pregnancies known to be at risk for well-described genetic syndrome involving renal abnormalities, ie, Meckel syndrome, Roberts syndrome, and bilateral renal agenesis. The diagnostic techniques utilized were ultrasonographic scanning (B-mode and grey scale), biochemical assays, and radiographic evaluation. The ultrasound finding common to the 3 affected cases was extreme oligohydramnios, which we considered indirect evidence that renal anomalies were present. The ultrasound scans of the fetuses affected with Meckel and Roberts syndrome demonstrated anechoic cystic spaces in the abdomen, representing the enlarged dysplastic cystic kidneys. An encephalocele was well demonstrated by B-mode scan in the fetus with Meckel syndrome. The absence of normal limbs in the Roberts syndrome was evident on serial grey scale scans of the fetus. Biochemical and radiographic studies provided results consistent with the suspected diagnoses. The importance of providing genetic counseling and prenatal diagnosis to families at risk is emphasized.

References

Mar 1, 1975·Journal of Medical Genetics·M J Seller
May 10, 1975·Lancet·S CampbellJ D Singer
Jun 1, 1975·Archives of Disease in Childhood·M Seller MJadinolfi
Dec 1, 1975·The British Journal of Radiology·B J LovedayJ Aitken
Mar 1, 1974·Ultrasound in Medicine & Biology·P N WellsR A Mountford
Aug 1, 1973·The Journal of Obstetrics and Gynaecology of the British Commonwealth·S CampbellC J Dewhurst
Dec 1, 1973·The Journal of Obstetrics and Gynaecology of the British Commonwealth·R C Michell, P J Bradley-Watson
Sep 23, 1972·British Medical Journal·M F Reed
Feb 1, 1970·The Australian & New Zealand Journal of Obstetrics & Gynaecology·W J GarrettD E Robinson
Jun 7, 1958·Lancet·I DONALDT G BROWN

❮ Previous
Next ❯

Citations

Aug 1, 1981·International Ophthalmology·M Warburg
Jun 1, 1993·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·T L SlovisA Gruskin
Mar 1, 1987·Indian Journal of Pediatrics·S Suresh, I Suresh
May 1, 1979·Acta paediatrica Scandinavica·M Uhari, R Herva
Jul 1, 2008·Indian Journal of Plastic Surgery : Official Publication of the Association of Plastic Surgeons of India·Jyotsna MurthyAltaf Hussain
Oct 1, 1984·American Journal of Obstetrics and Gynecology·R RomeroJ C Hobbins
Jan 1, 1988·Urology·B H BroeckerR E Petres
Jan 1, 1981·Clinical and Experimental Dialysis and Apheresis·M R Kaplan
Dec 7, 2017·Frontiers in Pediatrics·Verity HartillColin A Johnson
Jan 1, 1979·American Journal of Medical Genetics·D TomkinsM Roberts
Aug 1, 1984·American Journal of Medical Genetics·V P Johnson, D R Holzwarth
Mar 1, 1985·American Journal of Medical Genetics·D A Luthy, J H Hirsch
Nov 15, 1993·American Journal of Medical Genetics·D J Van Den Berg, U Francke
Mar 1, 1989·American Journal of Medical Genetics·D B RobinsE H Zackai
Sep 1, 1980·International Journal of Gynaecology and Obstetrics : the Official Organ of the International Federation of Gynaecology and Obstetrics·H E Fadel, S Martin
May 26, 1978·Science·G S Omenn

❮ Previous
Next ❯

Related Concepts

Related Feeds

Birth Defects

Birth defects encompass structural and functional alterations that occur during embryonic or fetal development and are present since birth. The cause may be genetic, environmental or unknown and can result in physical and/or mental impairment. Here is the latest research on birth defects.