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More information about genetic counselling can be found at: Information on Genetic Services The National and State Services pages underneath the 'Genetic Counselling' sections listed Diagnosis There are no published consensus clinical diagnostic criteria for 17q12 microdeletion syndrome.

Most families received standardized genetic counselling covering recurrence risk, reproductive choices, and prenatal diagnosis.

Droplet digital PCR further uncovered low-level mosaicism in the asymptomatic father, indicating a potential germline transmission pathway relevant to familial recurrence risk.

As time for non-directional genetic counselling may be limited in general practice and adult nephrological care, referral to a geneticist or specialized ADPKD clinic may be required.

If discussion with the child is deferred until the formal age of majority, families may benefit from the help of a genetic counselling service or a similarly trained professional 22 .

We have provided detailed guidance on the prenatal and postnatal imaging of single and multiple kidney cysts and their differential diagnosis in separate statements 29 , 30 .

1 2 Wan S, Zheng Y, Dang Y, Song T, Chen B, Zhang J (17 May 2019). "Prenatal diagnosis of 17q12 microdeletion and microduplication syndrome in fetuses with congenital renal abnormalities" .

1872-6232 202 2025 Mar Early human development Early Hum Dev Fetal bilateral hyperechogenic kidneys: Prenatal progression and long-term postnatal outcome.

1872-7654 311 2025 Jul European journal of obstetrics, gynecology, and reproductive biology Eur J Obstet Gynecol Reprod Biol Prenatal diagnosis and molecular cytogenetic analyses of a rare 17q12 microdeletion and 17q11.2 microduplication family with normal phenotype.

Among the 10,536 prenatal cases, 198 cases with CDH were enrolled in this study.