Prenatal diagnosis and genetic analysis of two fetuses with paternally derived 17q12 microdeletions / 中华医学遗传学杂志

OBJECTIVE@#To reported on two fetuses diagnosed with 17q12 microdeletion syndrome.@*METHODS@#The two fetuses were respectively found to have renal abnormalities and polyhydramnios upon second and third trimester ultrasonography. Umbilical cord blood of the first fetus and amniotic fluid of the second fetus were subjected to single nucleotide polymorphism array (SNP-array) analysis. After 17q12 microdeletion was found in the first fetus, SNP-array was carried out on peripheral blood samples of the parents to determine its origin. With the medical history of the parents taken into consideration, the father underwent high-throughput sequencing for 565 urinary system-related genes to exclude pathogenic or likely pathogenic variants associated with congenital malformations of the urinary and reproductive systems.@*RESULTS@#In both fetuses, SNP-array has revealed a 1.42 Mb deletion at 17q12, or arr[hg19]17q12 (34 822 465-36 243 365) × 1. In both cases the microdeletion was inherited from the father, in whom no urinary disease-related pathogenic or likely pathogenic variants was identified.@*CONCLUSION@#Paternally derived 17q12 microdeletions probably underlay the genetic etiology of the two fetuses with renal ultrasound abnormalities and polyhydramnios. SNP-array can enable the diagnosis and facilitate genetic counseling and prenatal diagnosis for the families.

Indomethacin-induced colon perforation in Bartter's syndrome.

Bartter's syndrome (BS) is an inherited renal tubular disorder characterized by hypokalemia, hypochloremic metabolic alkalosis, and hyperaldosteronism with normal blood pressure. A 22-year-old woman was referred at 23 week of gestation. Polyhydramnios was detected and the chloride level of the amniotic fluid was high. The mother was treated with indomethacin from 26 to 31 week of gestation. The newborn was delivered at 34 week of gestation. At 8th day of life, indomethacin was also started for the baby. After three days, a colonic perforation developed. Indomethacin-induced colon perforation is uncommon in antenatal Bartter's syndrome. This patient indicates that administration of indomethacin in both antenatal and/or early postnatal period may be associated with colonic perforation.