I. Program Overview Polycystic kidney disease (PKD) is a group of common monogenic genetic disorders that are inherited in autosomal dominant or recessive form. Autosomal dominant polycystic kidney disease (ADPKD) is currently the most common hereditary kidney disease in chronic renal failure, characterized by the occurrence of multiple cysts in both kidneys with progressive enlargement, structural and functional disorders of the kidneys, and eventually leading to renal failure. The incidence of the disease is between 1 in 500 and 1 in 1000, and it was previously thought to start in adulthood, so it is also known as adult polycystic kidney disease (APKD). In addition to renal manifestations, ADPKD can also involve several other organs, such as cyst formation in the liver, pancreas, and spleen, as well as intracranial aneurysms and mitral valve prolapse. There are two types of PKD: PKD1 and PKD2. Although the clinical manifestations of both types are similar, the prognosis of both types is significantly different. The average age of progression to end-stage renal failure is 53 years for PKD1 mutation patients and 69 years for PKD2 mutation patients. 95% of PKD1 mutation patients progress to end-stage renal failure before the age of 70, while many PKD2 mutation patients maintain good renal function until late in life. Unlike ADPKD, ARPKD has a poor prognosis, with 30% to 50% of fetuses dying of severe pulmonary dysplasia shortly after birth, but the 15-year survival rate for children who survive 1 month can be 80%. The clinical manifestations of late ARPKD include hypertension, renal insufficiency, portal hypertension, etc. The necessity of genetic diagnosis: At present, there are millions of polycystic kidney patients in China. This brings great mental pressure and economic burden to patients’ families, and the disease becomes a lingering shadow in the family. Since there is no effective treatment for polycystic kidney, timely pre-symptomatic genetic diagnosis for members of polycystic kidney family at risk, especially prenatal diagnosis and pre-implantation genetic diagnosis for high-risk fetuses or embryos, is the key to control its occurrence and development. Couples who have already undergone genetic confirmation in their family lines and are considering having children can consult through genetic counseling clinics and make the necessary preparations for prenatal diagnosis, which can clarify whether the fetus is suffering from polycystic kidney disease, thus enabling the couple to gain the possibility of choice. Testing and reporting time 1. The patient must sign the Informed Consent Form at the Molecular Genetics Center before testing; 2. The report will be given within 40 working days from the date of specimen acceptance. IV. Specimen collection and storage 8ml of venous blood in EDTA potassium anticoagulation tube (purple-tipped tube), gently inverted and mixed, sealed, stored at 4℃, and sent for testing within 72 hours.