Related Experiment Video

Updated: Sep 14, 2025

High-speed Video Microscopy Analysis for First-line Diagnosis of Primary Ciliary Dyskinesia
05:32

High-speed Video Microscopy Analysis for First-line Diagnosis of Primary Ciliary Dyskinesia

Published on: January 19, 2022

4.5K

When Primary Ciliary Dyskinesia Is Diagnosed in Utero: Insights from Two Families

Israel Amirav1, Moria Beer2, Dorit Redlich Amirav3

  • 1Pediatric Pulmonology Unit, Dana-Dwek Children's Hospital, Tel Aviv Sourasky Medical Center, Gray Faculty of Medical and Health Sciences, Tel Aviv University, 6 WeizmanStreet, 6423906, Tel Aviv, Israel.

Advances in Therapy
|July 22, 2025
PubMed

Insights

Parental decisions after a prenatal diagnosis of primary ciliary dyskinesia (PCD) are influenced by trust in doctors, quality of life, and future implications. Healthcare providers should offer comprehensive guidance for informed choices.

Area of Science:

  • Medical Genetics
  • Reproductive Health
  • Bioethics

Background:

  • Primary ciliary dyskinesia (PCD) is a rare genetic disorder causing chronic respiratory illness.
  • Prenatal diagnosis of PCD is becoming more feasible, creating complex decisions for expectant parents.

Purpose of the Study:

  • To explore parental decision-making processes following a prenatal diagnosis of primary ciliary dyskinesia (PCD).
  • To identify key factors influencing these decisions and the role of healthcare providers.

Main Methods:

  • Qualitative study analyzing experiences of two families with prenatal PCD diagnosis.
  • Semi-structured interviews and thematic analysis using Braun & Clarke's framework.

Main Results:

  • Key themes: trust in medical professionals, child's quality of life, family impact, fertility concerns, imagined future, and spiritual beliefs.
  • Parental choices are significantly shaped by medical guidance and considerations of long-term well-being.

Conclusions:

  • Prenatal PCD diagnosis involves multifaceted medical, emotional, and ethical considerations for parents.
  • Healthcare providers must offer comprehensive, empathetic counseling to support informed parental decision-making.
Abstract

Keywords:
Ethical dilemmasGenetic counselingParental decision-makingPrenatal diagnosisPrimary ciliary dyskinesiaReproductive health

More Related Videos

Nasal Brushing Sampling and Processing Using Digital High Speed Ciliary Videomicroscopy – Adaptation for the COVID-19 Pandemic09:03

Nasal Brushing Sampling and Processing Using Digital High Speed Ciliary Videomicroscopy – Adaptation for the COVID-19 Pandemic

Published on: November 7, 2020

5.0K
Collection, Expansion, and Differentiation of Primary Human Nasal Epithelial Cell Models for Quantification of Cilia Beat Frequency11:13

Collection, Expansion, and Differentiation of Primary Human Nasal Epithelial Cell Models for Quantification of Cilia Beat Frequency

Published on: November 10, 2021

4.2K

Related Concept Videos

Cystic Fibrosis: Pathogenesis01:23

Cystic Fibrosis: Pathogenesis

Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
368
Mechanism of Ciliary Motion01:05

Mechanism of Ciliary Motion

The ciliary structures were first seen in 1647 by Antonie Leeuwenhoek while observing the protozoans. In lower organisms, these appendages are responsible for cell movement, while in higher organisms, these appendages help in the movement of the extracellular fluids within the body cavities.
The cilia are made up of microtubules in a 9+2 arrangement, with nine microtubule doublet ring bundles, surrounding a pair of central singlet microtubule bundles. The doublet microtubule bundles are...
3.9K
Cystic Fibrosis: Management01:24

Cystic Fibrosis: Management

Cystic fibrosis (CF) is an autosomal recessive disorder that predominantly affects individuals of Northern European descent, occurring at a rate of 1 in 3500. It is caused by a genetic mutation in a gene on chromosome 7, most commonly the ΔF508 mutation, that codes for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. This results in thicker mucus secretions and obstruction pathologies in multiple organs, including the lungs and sinuses.
Sinus disease and chronic...
225
Pedigree Analysis01:35

Pedigree Analysis

Overview
85.3K
Karyotyping01:17

Karyotyping

Overview
62.4K
Microtubules in Signaling01:22

Microtubules in Signaling

The primary cilium, made up of microtubules, acts as antennae on the cell surfaces for relaying external stimuli into the cells. These fine hair-like structures are present, generally one per cell. These are non-motile cilia in a 9+0 microtubules arrangement, where the central pair of microtubules are absent. The primary cilia arise from the basal body embedded in the cell membrane. Intraflagellar transport (IFT) carries requisite proteins from the cytoplasm to the cilium because the primary...
1.8K