In utero fetal muscle biopsy for the diagnosis of Duchenne muscular dystrophy

Article Abstract:

Duchenne muscular dystrophy is a progressive muscle-wasting disease that affects boys; most die by the age of 20. The disease is caused by deficiency of dystrophin, a minor muscle protein that is important in maintaining normal muscle structure. The gene for dystrophin is contained on the X chromosome, of which boys have only one, obtained from their mothers. In about 70 percent of cases, mothers are carriers, and typical alterations in the gene can be detected in both the mother and close female relatives. However, in the other 30 percent, the cases arise spontaneously, and the mother's dystrophin DNA is normal. For a family in which one boy already has Duchenne muscular dystrophy, the risk to a second male fetus is assessed on the basis of which of the two maternal X chromosomes are present and whether the mother has an abnormal dystrophin gene. However, in families where the second fetus has the same X chromosome, and no alteration can be identified in the mother's dystrophin gene, this test is inconclusive. A case is described of such a family. Because the mother wished to have more information and wanted to avoid termination of a normal pregnancy, a new technique was performed; fetal muscle was removed for study to determine whether the dystrophin protein was present. An initial specimen was obtained at 17 weeks of gestation, but there was an inadequate amount of tissue. When the procedure was repeated at 19 weeks, the fetus was found to have normal levels of dystrophin. The 19-year-old son with the disease died soon thereafter. The fetus was born at term, at normal birth weight, and had a small scar on the buttocks, where the muscle was sampled. Although riskier than amniocentesis or chorionic villus sampling, fetal muscle biopsy, like other invasive fetal testing techniques, allows better evaluation and diagnosis of congenital disorders. (Consumer Summary produced by Reliance Medical Information, Inc.)

Usage, Prenatal diagnosis, Biopsy, Duchenne muscular dystrophy

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Percutaneous fetal cystoscopy and endoscopic fulguration of posterior urethral valves

Article Abstract:

A surgical procedure opened the blocked urethra in a fetus by electrically burning away the blocking tissue. Ultrasound scans and analysis of urine from fetal bladder puncture showed prognosis to be too poor for the insertion of a shunt through the fetal wall into the abdomen. The experimental procedure was carried out at the mother's request for any treatment that might help. With the mother under general anesthesia, a sharp, pointed tube was used to pierce the maternal abdomen, uterus, and fetal bladder. An endoscope was inserted and the tissue blocking the urethra was burned away electrically. Ultrasound scans showed that the urethra remained open. At 31 weeks gestation, the mother went into labor, the baby was born and died four days later of the complications of renal failure in utero. The technical difficulties of the operation and the complications that may result are described. It is suggested that the procedure could be done under regional anesthesia, which would require immobilizing the unanesthetized fetus.

Fetus, Surgery, Fetal surgery, Urethra, Urologic surgery, Endoscopic surgery

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Second-trimester maternal serum marker screening: maternal serum alpha-fetoprotein, beta-human chorionic gonadotropin, estriol, and their various combinations as predictors of pregnancy outcome

Article Abstract:

The same blood tests that are used to detect Down syndrome can detect other complications of pregnancy such as preeclampsia, miscarriage, premature labor, fetal growth restriction, fetal death, and placental abruption. The test measures alpha fetoprotein, unconjugated estriol, and human chorionic gonadotropin.

Pregnancy, Complications of, Pregnancy complications, Chorionic gonadotropin, Chorionic gonadotropins, Alpha fetoproteins

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