Screening of newborn babies for familial ureteric reflux

• Published in: The Lancet (British edition) 1997-08, Vol.350 (9075), p.396-400
• Main Authors: Scott, JES, Swallow, V, Coulthard, MG, Lambert, HJ, Lee, REJ
• Format: Article
• Language: English
• Subjects: Biological and medical sciences; Disease; Female; Fetuses; Genetic Linkage; Genetics; Humans; Infant, Newborn; Kidney - diagnostic imaging; Male; Medical sciences; Medical screening; Neonatal Screening; Nephrology. Urinary tract diseases; Pregnancy; Radiography; Sex Distribution; Sex ratio; Siblings; Trimethoprim - therapeutic use; Ultrasonography; Urinary Bladder - diagnostic imaging; Urinary system involvement in other diseases. Miscellaneous; Urinary tract. Prostate gland; Urology; Vesico-Ureteral Reflux - diagnosis; Vesico-Ureteral Reflux - drug therapy; Vesico-Ureteral Reflux - genetics
• ISSN: 0140-6736; 1474-547X
• DOI: 10.1016/S0140-6736(97)01515-8

Vesicoureteric reflux (VUR) is not usually diagnosed until it is complicated by urinary infection. Prevention probably requires diagnosis in a newborn baby before urinary infection occurs because the peak incidence for infection is in early infancy. VUR is a familial disorder. We sought to find out whether an at-risk group of newborn babies could be identified on the basis of the parents' family history. Over a 3-year period, pregnant women attending the antenatal clinics of three hospitals in the northeast of England were screened for evidence of urinary-tract disease in themselves or their families with a view to eliciting a history of VUR. When a woman, her partner, or a member of either family had a definite (by cystography records) or probable positive history, we recruited the mother to our study. Renal ultrasonography and cystography were done on the newborn babies soon after delivery, and a dimercaptosuccinic acid (DMSA) radioisotope scan at 3 months was done on those with VUR. The estimated number of deliveries during the study period was 34 555; 20 891 women were screened; and 211 were recruited and delivered. The index cases were identified from a wide range of family relationships, though over half consisted of mothers and siblings. 19 babies had more than one index case and in 21 families there was one index for more than one baby or a link between families. Cystography was carried out on 186 newborn babies; 38 (20·4%) had VUR. The proportion of newborn babies with VUR among linked index families was 31%. Mothers and siblings amounted to 71% of the index cases for newborn babies with VUR. The difference between confirmed and assumed index cases in VUR prediction was not significant. The female/male sex ratio among index cases was more than 4, but among newborn babies with VUR it was 1·5. Renal ultrasound showed no correlation with VUR, and all DMSA scans but one were normal. No newborn baby developed complications resulting from cystography. The screening of pregnant women for familial VUR is worthwhile because the frequency of VUR among the newborn babies of those with such a history is significantly higher than in the general population (frequency of VUR 1–2%), particularly if the family history involves more than one member, or more than one generation.