Fig. 7

The diagram of PCD diagnostic criteria. Patients with at least two of the following clinical manifestations are highly suspected to have PCD in Peking Union Medical Hospital: (1) Unexplained neonatal respiratory distress in term infant; (2) Year-round daily cough beginning before 6 months of age; (3) Year-round daily nasal congestion beginning before 6 months of age; (4) Organ laterality defect; (5) Family history of bronchiectasis or recurrent respiratory infection; (6) Early onset of disseminated bronchiectasis predominately located in right middle lobe or left lingual segment; (7) Infertile males/females or females having history of spontaneous abortion. High-resolution computed tomography scans (HRCT) were performed for all patients to evaluate bronchiectasis and KS. For those patients who were willing to have biopsy, TEM for respiratory epithelial cilia was performed for PCD diagnosis. For patients who decline endobronchial biopsy, WES and/or low-pass WGS are convenient and reliable ways to diagnose PCD