Patient's question:
Is there a way to prevent and treat congenital pseudochondroplasia in children?Doctor's answer:
Congenital Chondrodysplasia (hereinafter referred to as ACH) is the most common form of human dwarfism characterized by short limbs, relatively normal trunk, and macrocephaly, and is an autosomal dominant genetic disorder. Currently, the only way to reduce the incidence of this disease is to terminate pregnancy after a clear prenatal diagnosis is made.1. Etiological Research
① Genetic Mechanism: The onset of ACH is closely related to genetics, being an autosomal dominant inheritance.
② High-Risk Factors: ACH is usually sporadic, and clinical observations have shown that the probability of fathers of advanced age giving birth to children with chondrodysplasia is significantly increased.
2. Prenatal Imaging Diagnosis
① Ultrasound: Under ultrasound, the fetus appears macrocephalic, with short femurs, tibias, and fibulas, a trident shape and a "gong-shaped" thorax. The fetal abdomen is distended, with increased abdominal circumference. The limbs are short and stubby, with shortened and curved long bones and enlarged epiphyses. Amniotic fluid volume is increased.
② Three-Dimensional Ultrasound Imaging Technology
③ X-ray Diagnosis: The X-ray manifestations of this disease are relatively typical:
(1) Short and wide long bones of the limbs, irregular epiphyseal lines, and fragmented epiphyses;
(2) Short and stubby phalanges resembling dumbbells, with slightly equal finger lengths;
(3) Gradually decreasing interspinous distance of the lumbar vertebrae, the opposite of normal;
(4) Small pelvis, flattened upper and lateral edges of the iliac crests, lowered position of the sacroiliac joint, and a sharp angle of the greater sciatic notch;
(5) Widened and flattened acetabular top, with a flat and absent lower margin.
3. Prenatal Genetic Diagnosis
① Fetal DNA Collection: Methods include ultrasound-guided percutaneous umbilical vein puncture and chorionic villus sampling.
② Preimplantation Genetic Diagnosis: This typically involves testing the polar bodies from retrieved oocytes or cells from fertilized embryos to transfer confirmed non-hereditary embryos into the uterus, thereby preventing the inheritance of genetic diseases across generations. It is recommended that pregnant women with parental disease or ultrasound-suspected fetal chondrodysplasia undergo immediate genetic diagnosis of the fetus under routine ultrasound screening. Preimplantation genetic diagnosis for chondrodysplasia will be the hope for chondrodysplasia couples to have healthy offspring.