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Screening of newborn babies for familial ureteric reflux
J E Scott1, V Swallow, M G Coulthard
1Northern Maternity Survey Office, Royal Victoria Infirmary, Newcastle upon Tyne, UK.
Insights
Screening pregnant women for a family history of vesicoureteric reflux (VUR) can identify newborns at higher risk. This familial VUR screening is valuable for early detection before complications arise.
Area of Science:
- Pediatric Nephrology
- Urology
- Genetics
Background:
- Vesicoureteric reflux (VUR) is often diagnosed after urinary infections, but early detection in newborns is crucial for prevention.
- The peak incidence of urinary tract infections, often linked to VUR, occurs in early infancy.
- VUR demonstrates a familial inheritance pattern, suggesting genetic predisposition.
Purpose of the Study:
- To determine if newborn infants at risk for VUR can be identified through their parents' family medical history.
- To assess the efficacy of antenatal screening for familial VUR.
Main Methods:
- Pregnant women were screened for a history of urinary tract disease or VUR in themselves or their families.
- Newborns were recruited if a family history of VUR was identified.
- Infants underwent renal ultrasonography and cystography shortly after birth, with DMSA scans for those diagnosed with VUR.
Main Results:
- Of 211 recruited mothers, 186 newborns had cystography, revealing VUR in 38 (20.4%).
- The incidence of VUR was 31% in newborns from families with a positive VUR history.
- Mothers and siblings constituted 71% of index cases for newborns with VUR; renal ultrasound showed no correlation.
Conclusions:
- Antenatal screening for familial VUR is effective in identifying newborns with a significantly higher prevalence of the condition.
- This approach is particularly valuable when the family history involves multiple members or generations.
- Early identification through family history screening aids in the prevention of VUR complications.
Background:
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.
Methods:
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.
Findings:
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.
Interpretation:
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.